diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
index 64e04bfd..f5fffd45 100644
--- a/data/STRchive-citations.json
+++ b/data/STRchive-citations.json
@@ -518,28 +518,9 @@
},
{
"id": "pmid:24041967",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24041967",
- "title": "Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.",
- "type": "article-journal",
- "doi": "10.1016/j.neurobiolaging.2013.07.015",
- "authors": [
- ["Pietro", "Fratta"],
- ["Toby", "Collins"],
- ["Sally", "Pemble"],
- ["Suran", "Nethisinghe"],
- ["Anny", "Devoy"],
- ["Paola", "Giunti"],
- ["Mary G", "Sweeney"],
- ["Michael G", "Hanna"],
- ["Elizabeth M C", "Fisher"]
- ],
- "publisher": "Neurobiology of aging",
- "issn": "1558-1497",
- "date": "2013-09-13",
- "abstract": "Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and heritability. Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. Diagnostic testing and previous research have relied on fragment analysis polymerase chain reaction to determine the AR CAG repeat size, and have therefore not been able to assess the presence of interruptions. We here report a sequencing study of the AR CAG repeat in a cohort of SBMA patients and control subjects in the United Kingdom. We found no repeat interruptions to be present, and we describe differences between sequencing and traditional sizing methods.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24041967"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/24041967",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:24041967']' timed out after 3 seconds"
},
{
"id": "pmid:36797998",
@@ -1270,6 +1251,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24318420"
},
+{
+ "id": "pmid:41229449",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41229449",
+ "title": "Novel",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200316",
+ "authors": [
+ ["Kamilla", "Sedov"],
+ ["Carla", "Manrique-Enciso"],
+ ["Madison James", "Yang"],
+ ["Ismael", "Araujo-Aliaga"],
+ ["Egor", "Dolzhenko"],
+ ["Samantha", "Kalla"],
+ ["Sarah Bowman", "Kingan"],
+ ["Elison", "Sarapura-Castro"],
+ ["Andrea Rivera-", "Valdivia"],
+ ["Maryenela Zaida", "Illanes-Manrique"],
+ ["Mario", "Cornejo-Olivas"],
+ ["Birgitt", "Sch\u00fcle"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2025-11-10",
+ "abstract": "Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by intronic expansions of pentanucleotide repeats in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41229449"
+},
{
"id": "pmid:36092952",
"manubot_success": true,
@@ -1861,6 +1870,92 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8908515"
},
+{
+ "id": "pmid:40015980",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40015980",
+ "title": "A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.",
+ "type": "article-journal",
+ "doi": "10.1101/gr.279634.124",
+ "authors": [
+ ["Haloom", "Rafehi"],
+ ["Liam G", "Fearnley"],
+ ["Justin", "Read"],
+ ["Penny", "Snell"],
+ ["Kayli C", "Davies"],
+ ["Liam", "Scott"],
+ ["Greta", "Gillies"],
+ ["Genevieve C", "Thompson"],
+ ["Tess A", "Field"],
+ ["Aleena", "Eldo"],
+ ["Simon", "Bodek"],
+ ["Ernest", "Butler"],
+ ["Luke", "Chen"],
+ ["John", "Drago"],
+ ["Himanshu", "Goel"],
+ ["Anna", "Hackett"],
+ ["G Michael", "Halmagyi"],
+ ["Andrew", "Hannaford"],
+ ["Katya", "Kotschet"],
+ ["Kishore R", "Kumar"],
+ ["Smitha", "Kumble"],
+ ["Matthew", "Lee-Archer"],
+ ["Abhishek", "Malhotra"],
+ ["Mark", "Paine"],
+ ["Michael", "Poon"],
+ ["Kate", "Pope"],
+ ["Katrina", "Reardon"],
+ ["Steven", "Ring"],
+ ["Anne", "Ronan"],
+ ["Matthew", "Silsby"],
+ ["Renee", "Smyth"],
+ ["Chloe", "Stutterd"],
+ ["Mathew", "Wallis"],
+ ["John", "Waterston"],
+ ["Thomas", "Wellings"],
+ ["Kirsty", "West"],
+ ["Christine", "Wools"],
+ ["Kathy H C", "Wu"],
+ ["David J", "Szmulewicz"],
+ ["Martin B", "Delatycki"],
+ ["Melanie", "Bahlo"],
+ ["Paul J", "Lockhart"]
+ ],
+ "publisher": "Genome research",
+ "issn": "1549-5469",
+ "date": "2025-04-14",
+ "abstract": "The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnoses. Despite this, diagnostic testing is limited and inefficient, often utilizing single gene assays. This study evaluates the effectiveness of long- and short-read sequencing as diagnostic tools for CA. We recruited 110 individuals (48 females, 62 males) with a clinical diagnosis of CA. Short-read genome sequencing (SR-GS) was performed to identify pathogenic RE and also non-RE variants in 356 genes associated with CA. Independently, long-read sequencing with adaptive sampling (LR-AS) was performed to identify pathogenic RE. SR-GS provided a genetic diagnosis for 38% of the cohort (40/110) including seven non-RE pathogenic variants. RE causes disease in 33 individuals, with the most common condition being SCA27B (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40015980"
+},
+{
+ "id": "pmid:16804541",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/16804541",
+ "title": "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.",
+ "type": "article-journal",
+ "doi": "10.1038/ng1827",
+ "authors": [
+ ["Melinda L", "Moseley"],
+ ["Tao", "Zu"],
+ ["Yoshio", "Ikeda"],
+ ["Wangcai", "Gao"],
+ ["Anne K", "Mosemiller"],
+ ["Randy S", "Daughters"],
+ ["Gang", "Chen"],
+ ["Marcy R", "Weatherspoon"],
+ ["H Brent", "Clark"],
+ ["Timothy J", "Ebner"],
+ ["John W", "Day"],
+ ["Laura P W", "Ranum"]
+ ],
+ "publisher": "Nature genetics",
+ "issn": "1061-4036",
+ "date": "2006-06-25",
+ "abstract": "We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length human SCA8 mutation is transcribed using its endogenous promoter. (CTG)116 expansion, but not (CTG)11 control lines, develop a progressive neurological phenotype with in vivo imaging showing reduced cerebellar-cortical inhibition. 1C2-positive intranuclear inclusions in cerebellar Purkinje and brainstem neurons in SCA8 expansion mice and human SCA8 autopsy tissue result from translation of a polyglutamine protein, encoded on a previously unidentified antiparallel transcript (ataxin 8, ATXN8) spanning the repeat in the CAG direction. The neurological phenotype in SCA8 BAC expansion but not BAC control lines demonstrates the pathogenicity of the (CTG-CAG)n expansion. Moreover, the expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16804541"
+},
{
"id": "pmid:20373340",
"manubot_success": true,
@@ -2115,6 +2210,124 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39999167"
},
+{
+ "id": "pmid:42087256",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42087256",
+ "title": "Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-026-02301-2",
+ "authors": [
+ ["Nikki S", "Harper"],
+ ["Joanne L", "Sharpe"],
+ ["Jasmine", "Speranza"],
+ ["Ravinder", "Gulia"],
+ ["Jeffrey X", "Chen"],
+ ["Scott P", "Allen"],
+ ["Manpreet S", "Atwal"],
+ ["Stuart", "Pickering-Brown"],
+ ["Matthew R", "Livesey"],
+ ["Craig L", "Bennett"],
+ ["Andreas", "Prokop"],
+ ["Albert R", "La Spada"],
+ ["Ryan J H", "West"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2026-05-05",
+ "abstract": "Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal, early-onset neurodegenerative diseases. The most common genetic cause of FTD and ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation leads to the production of toxic dipeptide repeat proteins (DPRs), via repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease risk. The integrated stress response (ISR), a key driver of SG formation via eIF2\u03b1 phosphorylation, has been linked to C9orf72 expansions, but the role of individual DPRs in ISR activation remains unclear. Here, using Drosophila models expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a novel activator of the ISR, inducing early and sustained eIF2\u03b1 phosphorylation and SG accumulation prior to motor decline. Genetic inhibition of the ISR or knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary neurons. These findings position poly(GR) as a key driver of ISR activation and highlight ATXN2 and the ISR as promising therapeutic targets in C9orf72-associated FTD/ALS.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42087256"
+},
+{
+ "id": "pmid:42145639",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42145639",
+ "title": "The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.04.29.26350889",
+ "authors": [
+ ["Jack", "Humphrey"],
+ ["Ali", "Oku"],
+ ["Marta", "Byrska-Bishop"],
+ ["Anna O", "Basile"],
+ ["Uday S", "Evani"],
+ ["Andr\u00e9", "Corvelo"],
+ ["Alex", "Tokolyi"],
+ ["Kailash", "Bp"],
+ ["Aline", "R\u00e9al"],
+ ["Yebin", "Kim"],
+ ["Marielle L", "Bond"],
+ ["Wayne E", "Clarke"],
+ ["Rui", "Fu"],
+ ["Heather", "Geiger"],
+ ["Sei", "Chang"],
+ ["Tatsuhiko", "Naito"],
+ ["Beomjin", "Jang"],
+ ["Rajeeva", "Musunuri"],
+ ["Winston H", "Dredge"],
+ ["Rashid", "Al-Abri"],
+ ["Benjamin N", "Hoover"],
+ ["Dina", "Manaa"],
+ ["Jaime", "McClintock"],
+ ["Faith P", "Singh"],
+ ["Maria H", "Pedersen"],
+ ["Alexi", "Runnels"],
+ ["Nadia", "Propp"],
+ ["Samantha", "Fennessey"],
+ ["Hong-Hee", "Won"],
+ ["Michael C", "Zody"],
+ ["Giuseppe", "Narzisi"],
+ ["Nicolas", "Robine"],
+ ["Tuuli", "Lappalainen"],
+ ["Delphine", "Fagegaltier"],
+ ["Gamze", "G\u00fcrsoy"],
+ ["David A", "Knowles"],
+ ["Towfique", "Raj"],
+ ["Matthew B", "Harms"],
+ ["Hemali", "Phatnani"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2026-05-04",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with substantial genetic and clinical heterogeneity that impedes therapeutic development. Large-scale multi-tissue genomic resources have transformed the study of neuropsychiatric and neurodegenerative diseases, but no equivalent resource exists for ALS. Here we present the full NYGC ALS Consortium dataset, combining whole-genome sequencing from 4,746 donors and bulk RNA-seq from 2,574 samples across 8 brain and spinal cord regions from 695 donors across the ALS disease spectrum. Our catalogue of small variants, structural variants, and short tandem repeats identified likely pathogenic mutations in 15.6% of ALS cases. Gene expression and mRNA splicing analysis across 5 major tissues reveals shared and region-specific features, highlighting microglial and T-cell dysregulation in the spinal cord. Mapping the genetic regulation of expression and splicing across tissues identified associations with 6 ALS risk loci, whereas allele-specific rare variant analysis detected expression effects for",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42145639"
+},
+{
+ "id": "pmid:42135512",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42135512",
+ "title": "Integrated single-cell and spatial transcriptomic profiling in ALS uncovers peripheral-to-central immune infiltration and reprogramming.",
+ "type": "article-journal",
+ "doi": "10.1038/s41593-026-02300-5",
+ "authors": [
+ ["Ziyang", "Zhang"],
+ ["Lynn", "van Olst"],
+ ["Francesco", "Alessandrini"],
+ ["Matthew", "Wright"],
+ ["Alex J", "Edwards"],
+ ["Jake", "Boles"],
+ ["Anait", "Nalbandian"],
+ ["Anne V", "Forsyth"],
+ ["Nate", "Shepard"],
+ ["Thomas", "Watson"],
+ ["Evan", "Kaspi"],
+ ["Angeli", "Mittal"],
+ ["Joshua", "Kuruvilla"],
+ ["Natalie", "Piehl"],
+ ["Abhirami", "Ramakrishnan"],
+ ["Stanley", "Appel"],
+ ["Evangelos", "Kiskinis"],
+ ["David", "Gate"]
+ ],
+ "publisher": "Nature neuroscience",
+ "issn": "1546-1726",
+ "date": "2026-05-14",
+ "abstract": "Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive motor neuron (MN) degeneration in the brain and spinal cord. Although neuroinflammation is increasingly recognized as a hallmark of ALS, the precise molecular programs linking immune responses to MN pathology remain poorly defined. Using an integrated approach that combines single-cell and bulk RNA sequencing with spatial proteogenomics, we characterized both shared and distinct immune dynamics in peripheral blood and spinal cord tissues from patients with sporadic ALS and those carrying C9orf72 repeat expansions. Our analysis revealed broad immune remodeling in C9orf72 ALS, ALS subtype-specific and progression-associated differences in monocyte activation and antigen-experienced CD8 effector memory T cells with clonal features consistent with antigen-driven responses. Spatial mapping revealed complement activation and lipid-programmed myeloid states converging at sites of MN loss and TDP-43 pathology. Together, these findings connect peripheral and central immune alterations to ALS heterogeneity and highlight stratified immunomodulation as a potential therapeutic strategy.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42135512"
+},
{
"id": "pmid:37388914",
"manubot_success": true,
@@ -2500,6 +2713,38 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28522837"
},
+{
+ "id": "pmid:42222887",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42222887",
+ "title": "Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.",
+ "type": "article-journal",
+ "doi": "10.1172/jci191508",
+ "authors": [
+ ["Sebastian", "Michels"],
+ ["Chaorong", "Chen"],
+ ["Wolfgang P", "Ruf"],
+ ["M Madhy", "Garcia Garcia"],
+ ["Frederick J", "Arnold"],
+ ["Zhuoxing", "Wu"],
+ ["Craig L", "Bennett"],
+ ["Daniel", "Shams"],
+ ["Leslie M", "Thompson"],
+ ["Alyssa C", "Walker"],
+ ["Dennis W", "Dickson"],
+ ["Leonard", "Petrucelli"],
+ ["Johannes", "Dorst"],
+ ["Mercedes", "Prudencio"],
+ ["Wei", "Li"],
+ ["Albert R", "La Spada"]
+ ],
+ "publisher": "The Journal of clinical investigation",
+ "issn": "1558-8238",
+ "date": "2026-06-01",
+ "abstract": "The role of the epigenome in age-related neurodegenerative disorders remains understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis (ALS). Our study included 20 patients with sporadic ALS, 10 patients with C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion mutation, and 21 nondisease control individuals. Following targeted enzymatic methyl-sequencing (EM-seq) of approximately 4 million CpG sites, we detected numerous differentially methylated genes, including several implicated in ALS disease risk and pathogenesis. By integrating multiple epigenetic features, we delineated a distinct epigenetic signature, which achieved an average area under the curve (AUC) of 0.91 \u00b1 0.10 upon receiver operator characteristic (ROC) analysis, which enabled detection of approximately 70% of patients with ALS with close to 100% specificity. Furthermore, we also identified a set of genes whose methylation status significantly correlated with clinical disease progression and cerebrospinal fluid (CSF) neurofilament levels. Our results reveal the potential of cfDNA-based biomarkers to accurately diagnose ALS and potentially predict disease progression.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42222887"
+},
{
"id": "pmid:39226712",
"manubot_success": true,
@@ -2524,6 +2769,56 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39226712"
},
+{
+ "id": "pmid:42095061",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42095061",
+ "title": "Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in",
+ "type": "article-journal",
+ "doi": "10.3389/fnagi.2026.1792887",
+ "authors": [
+ ["Zhen", "Hu"],
+ ["Jing-Jin", "Wan"],
+ ["Qin-Qin", "Yan"],
+ ["Yu", "Fan"],
+ ["Jun", "Liu"]
+ ],
+ "publisher": "Frontiers in aging neuroscience",
+ "issn": "1663-4365",
+ "date": "2026-04-21",
+ "abstract": "The",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42095061"
+},
+{
+ "id": "pmid:42158267",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42158267",
+ "title": "Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200382",
+ "authors": [
+ ["Joan", "Groeneveld"],
+ ["Sterre C M", "de Boer"],
+ ["Welmoed", "Krudop"],
+ ["Georgii", "Ozhegov"],
+ ["Marc", "Hulsman"],
+ ["Annemieke", "Dols"],
+ ["Cora J", "Kerssens"],
+ ["Sigfried", "Schouws"],
+ ["Frederik", "Barkhof"],
+ ["Henne", "Holstege"],
+ ["Yolande A L", "Pijnenburg"],
+ ["Sven J", "Van Der Lee"],
+ ["Flora H", "Duits"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2026-05-14",
+ "abstract": "The diagnosis of behavioral variant frontotemporal dementia is often difficult because behavioral change has a broad differential diagnosis. Genetic testing may aid in the diagnostic process. We investigated the prevalence of pathogenic genetic variants (PGVs) in individuals referred to our memory clinic with late-onset behavioral change and identified clinical \"red flags\" for PGV carriership, specifically in diagnostically ambiguous cases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42158267"
+},
{
"id": "pmid:38149039",
"manubot_success": true,
@@ -2700,6 +2995,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41957010"
},
+{
+ "id": "pmid:39996131",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39996131",
+ "title": "Redefining the Pathogenic CAG Repeat Units Threshold in",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200245",
+ "authors": [
+ ["Yuya", "Hatano"],
+ ["Tomohiko", "Ishihara"],
+ ["Sachiko", "Hirokawa"],
+ ["Hidetoshi", "Date"],
+ ["Yuji", "Takahashi"],
+ ["Hidehiro", "Mizusawa"],
+ ["Osamu", "Onodera"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2025-02-21",
+ "abstract": "Spinocerebellar ataxia type 6 (SCA6) is caused by expansion of CAG repeat units (RUs) in",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39996131"
+},
{
"id": "pmid:8988170",
"manubot_success": true,
@@ -2851,6 +3169,168 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19760265"
},
+{
+ "id": "pmid:21784842",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/21784842",
+ "title": "Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.",
+ "type": "article-journal",
+ "doi": "10.1074/jbc.m111.222679",
+ "authors": [
+ ["Bente B", "Johansson"],
+ ["Janniche", "Torsvik"],
+ ["Lise", "Bj\u00f8rkhaug"],
+ ["Mette", "Vesterhus"],
+ ["Anja", "Ragvin"],
+ ["Erling", "Tjora"],
+ ["Karianne", "Fjeld"],
+ ["Dag", "Hoem"],
+ ["Stefan", "Johansson"],
+ ["Helge", "R\u00e6der"],
+ ["Susanne", "Lindquist"],
+ ["Olle", "Hernell"],
+ ["Miriam", "Cnop"],
+ ["Jaakko", "Saraste"],
+ ["Torgeir", "Flatmark"],
+ ["Anders", "Molven"],
+ ["P\u00e5l R", "Nj\u00f8lstad"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2011-07-22",
+ "abstract": "CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hypothesized that the disease mechanism might involve a negative effect of the mutant protein. In silico analysis showed that the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT) to 11.8 in mutant (MUT) human CEL. By stably overexpressing CEL-WT and CEL-MUT in HEK293 cells, we found similar glycosylation, ubiquitination, constitutive secretion, and quality control of the two proteins. The CEL-MUT protein demonstrated, however, a high propensity to form aggregates found intracellularly and extracellularly. Different physicochemical properties of the intrinsically disordered tandem repeat domains of WT and MUT proteins may contribute to different short and long range interactions with the globular core domain and other macromolecules, including cell membranes. Thus, we propose that CEL-MODY is a protein misfolding disease caused by a negative gain-of-function effect of the mutant proteins in pancreatic tissues.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21784842"
+},
+{
+ "id": "pmid:27650499",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27650499",
+ "title": "A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.",
+ "type": "article-journal",
+ "doi": "10.1074/jbc.m116.734384",
+ "authors": [
+ ["Xunjun", "Xiao"],
+ ["Gabrielle", "Jones"],
+ ["Wednesday A", "Sevilla"],
+ ["Donna B", "Stolz"],
+ ["Kelsey E", "Magee"],
+ ["Margaret", "Haughney"],
+ ["Amitava", "Mukherjee"],
+ ["Yan", "Wang"],
+ ["Mark E", "Lowe"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2016-09-20",
+ "abstract": "Patients with chronic pancreatitis (CP) frequently have genetic risk factors for disease. Many of the identified genes have been connected to trypsinogen activation or trypsin inactivation. The description of CP in patients with mutations in the variable number of tandem repeat (VNTR) domain of carboxyl ester lipase (CEL) presents an opportunity to study the pathogenesis of CP independently of trypsin pathways. We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes CP through proteotoxic gain-of-function activation of maladaptive cell signaling pathways including cell death pathways. HEK293 or AR42J cells were transfected with constructs expressing CEL with 14 repeats in the VNTR (CEL14R) or C563fsX673 CEL (CEL maturity onset diabetes of youth with a deletion mutation in the VNTR (MODY)). In both cell types, CEL MODY formed intracellular aggregates. Secretion of CEL MODY was decreased compared with that of CEL14R. Expression of CEL MODY increased endoplasmic reticulum stress, activated the unfolded protein response, and caused cell death by apoptosis. Our results demonstrate that disorders of protein homeostasis can lead to CP and suggest that novel therapies to decrease the intracellular accumulation of misfolded protein may be successful in some patients with CP.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27650499"
+},
+{
+ "id": "pmid:33862081",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33862081",
+ "title": "The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jbc.2021.100661",
+ "authors": [
+ ["Anny", "Gravdal"],
+ ["Xunjun", "Xiao"],
+ ["Miriam", "Cnop"],
+ ["Khadija", "El Jellas"],
+ ["Stefan", "Johansson"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Mark E", "Lowe"],
+ ["Bente B", "Johansson"],
+ ["Anders", "Molven"],
+ ["Karianne", "Fjeld"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2021-04-14",
+ "abstract": "Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause maturity-onset diabetes of the young, type 8 (MODY8), an inherited disorder characterized by exocrine pancreatic dysfunction and diabetes. Studies on the DEL1 variant have suggested that MODY8 is initiated by CEL protein misfolding and aggregation. However, it is unclear how the position of single-base deletions within the CEL VNTR affects pathogenic properties of the protein. Here, we investigated four naturally occurring CEL variants, arising from single-base deletions in different VNTR segments (DEL1, DEL4, DEL9, and DEL13). When the four variants were expressed in human embryonic kidney 293 cells, only DEL1 and DEL4 led to significantly reduced secretion, increased intracellular aggregation, and increased endoplasmic reticulum stress compared with normal CEL protein. The level of O-glycosylation was affected in all DEL variants. Moreover, all variants had enzymatic activity comparable with that of normal CEL. We conclude that the longest aberrant protein tails, resulting from single-base deletions in the proximal VNTR segments, have highest pathogenic potential, explaining why DEL1 and DEL4 but not DEL9 and DEL13 have been observed in patients with MODY8. These findings further support the view that CEL mutations cause pancreatic disease through protein misfolding and proteotoxicity, leading to endoplasmic reticulum stress and activation of the unfolded protein response.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33862081"
+},
+{
+ "id": "pmid:38483348",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38483348",
+ "title": "Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddae034",
+ "authors": [
+ ["Ranveig S", "Brekke"],
+ ["Anny", "Gravdal"],
+ ["Khadija", "El Jellas"],
+ ["Grace E", "Curry"],
+ ["Jianguo", "Lin"],
+ ["Steven J", "Wilhelm"],
+ ["Solrun J", "Steine"],
+ ["Eric", "Mas"],
+ ["Stefan", "Johansson"],
+ ["Mark E", "Lowe"],
+ ["Bente B", "Johansson"],
+ ["Xunjun", "Xiao"],
+ ["Karianne", "Fjeld"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2024-05-18",
+ "abstract": "The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9.5%), which always associated with a VNTR length of 13 repeats. The combined INS allele frequency (0.078) was similar to that observed in a control material of 416 subjects (0.075). We performed functional testing in HEK293T cells of a set of CEL-INS variants, in which the insertion site varied from the first to the 12th VNTR repeat. Lipase activity showed little difference among the variants. However, CEL-INS variants with insertions occurring in the most proximal repeats led to protein aggregation and endoplasmic reticulum stress, which upregulated the unfolded protein response. Moreover, by using a CEL-INS-specific antibody, we observed patchy signals in pancreatic tissue from humans without any CEL-INS variant in the germline. Similar pancreatic staining was seen in knock-in mice expressing the most common human CEL VNTR with 16 repeats. CEL-INS proteins may therefore be constantly produced from somatic events in the normal pancreatic parenchyma. This observation along with the high population frequency of CEL-INS alleles strongly suggests that these variants are benign, with a possible exception for insertions in VNTR repeats 1-4.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38483348"
+},
+{
+ "id": "pmid:34850019",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34850019",
+ "title": "Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.",
+ "type": "article-journal",
+ "doi": "10.1210/clinem/dgab864",
+ "authors": [
+ ["Khadija", "El Jellas"],
+ ["Petra", "Du\u0161\u00e1tkov\u00e1"],
+ ["Ingfrid S", "Haldorsen"],
+ ["Janne", "Molnes"],
+ ["Erling", "Tjora"],
+ ["Bente B", "Johansson"],
+ ["Karianne", "Fjeld"],
+ ["Stefan", "Johansson"],
+ ["\u0160t\u011bp\u00e1nka", "Pr\u016fhov\u00e1"],
+ ["Leif", "Groop"],
+ ["J Matthias", "L\u00f6hr"],
+ ["P\u00e5l R", "Nj\u00f8lstad"],
+ ["Anders", "Molven"]
+ ],
+ "publisher": "The Journal of clinical endocrinology and metabolism",
+ "issn": "1945-7197",
+ "date": "2022-03-24",
+ "abstract": "Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34850019"
+},
+{
+ "id": "pmid:39361122",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39361122",
+ "title": "Unraveling the genetic basis of MODY: insights from next-generation sequencing.",
+ "type": "article-journal",
+ "doi": "10.1007/s13353-024-00907-7",
+ "authors": [
+ ["Metin", "Eser"],
+ ["Gulam", "Hekimoglu"],
+ ["Fatma", "Dursun"]
+ ],
+ "publisher": "Journal of applied genetics",
+ "issn": "2190-3883",
+ "date": "2024-10-03",
+ "abstract": "Maturity-onset diabetes of the young (MODY) is an uncommon kind of monogenic diabetes. The major characteristics of MODY include not having insulin resistance and the absence of autoimmunity, early onset, and a family history suggesting autosomal-dominant inheritance. Nonetheless, genetic testing is necessary for diagnosis. The MODY-related genes CEL, ABCC8, PDX1, GCK, WFS1, HNF4A, HNF1A, and HNF1B were examined using Next Generation Sequencing (NGS) in this investigation. This study aimed to evaluate the genetic and clinical characteristics of patients referred with a preliminary diagnosis of MODY, retrospectively. A total of 30 patients (18 male and 12 female) participated, with ages ranging from 5 to 56. Eight distinct genetic variants were identified in 17 cases (57%). Pathogenic variants in the HNF1A gene have been identified. Likely pathogenic variants were found in CEL, ABCC8, GCK, and HNF4A. The genes APPL1, BLK, INS, KCNJ1, KLF11, NEUROD1, PAX4, RFX6, and ZFP57 were shown to be mutation-free. Four distinct pathogenic variants are found in this series. Unexpectedly high rates of pathogenic variants have been found in the HNF1A gene. In 27% of cases, there is a family history of vertically transmitted diabetes. The study highlights the importance of genetic testing for individuals with early-onset diabetes and a strong family history of the condition. Comprehensive genetic testing and increased public awareness are essential for MODY.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39361122"
+},
{
"id": "pmid:16369531",
"manubot_success": true,
@@ -2884,23 +3364,30 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16369531"
},
{
- "id": "pmid:39361122",
+ "id": "pmid:18544793",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39361122",
- "title": "Unraveling the genetic basis of MODY: insights from next-generation sequencing.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/18544793",
+ "title": "Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.",
"type": "article-journal",
- "doi": "10.1007/s13353-024-00907-7",
+ "doi": "10.2337/dc07-2217",
"authors": [
- ["Metin", "Eser"],
- ["Gulam", "Hekimoglu"],
- ["Fatma", "Dursun"]
+ ["Mette", "Vesterhus"],
+ ["Helge", "Raeder"],
+ ["Harald", "Aurlien"],
+ ["Clara G", "Gjesdal"],
+ ["Cecilie", "Bredrup"],
+ ["P\u00e5l I", "Holm"],
+ ["Anders", "Molven"],
+ ["Laurence", "Bindoff"],
+ ["Arnold", "Berstad"],
+ ["P\u00e5l R", "Nj\u00f8lstad"]
],
- "publisher": "Journal of applied genetics",
- "issn": "2190-3883",
- "date": "2024-10-03",
- "abstract": "Maturity-onset diabetes of the young (MODY) is an uncommon kind of monogenic diabetes. The major characteristics of MODY include not having insulin resistance and the absence of autoimmunity, early onset, and a family history suggesting autosomal-dominant inheritance. Nonetheless, genetic testing is necessary for diagnosis. The MODY-related genes CEL, ABCC8, PDX1, GCK, WFS1, HNF4A, HNF1A, and HNF1B were examined using Next Generation Sequencing (NGS) in this investigation. This study aimed to evaluate the genetic and clinical characteristics of patients referred with a preliminary diagnosis of MODY, retrospectively. A total of 30 patients (18 male and 12 female) participated, with ages ranging from 5 to 56. Eight distinct genetic variants were identified in 17 cases (57%). Pathogenic variants in the HNF1A gene have been identified. Likely pathogenic variants were found in CEL, ABCC8, GCK, and HNF4A. The genes APPL1, BLK, INS, KCNJ1, KLF11, NEUROD1, PAX4, RFX6, and ZFP57 were shown to be mutation-free. Four distinct pathogenic variants are found in this series. Unexpectedly high rates of pathogenic variants have been found in the HNF1A gene. In 27% of cases, there is a family history of vertically transmitted diabetes. The study highlights the importance of genetic testing for individuals with early-onset diabetes and a strong family history of the condition. Comprehensive genetic testing and increased public awareness are essential for MODY.",
+ "publisher": "Diabetes care",
+ "issn": "1935-5548",
+ "date": "2008-06-10",
+ "abstract": "To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39361122"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18544793"
},
{
"id": "pmid:29086017",
@@ -3000,28 +3487,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42003432"
},
-{
- "id": "pmid:39643839",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39643839",
- "title": "Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.",
- "type": "article-journal",
- "doi": "10.1007/s10072-024-07826-9",
- "authors": [
- ["Martina", "Rimoldi"],
- ["Sabrina", "Lucchiari"],
- ["Serena", "Pagliarani"],
- ["Giovanni", "Meola"],
- ["Giacomo Pietro", "Comi"],
- ["Elena", "Abati"]
- ],
- "publisher": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology",
- "issn": "1590-3478",
- "date": "2024-12-07",
- "abstract": "Myotonic dystrophies (DM) encompass a group of complex genetic disorders characterized by progressive muscle weakness with myotonia and multisystemic involvement. The aim of our paper is to synthesize key findings and advancements in the understanding of DM, and to underline the multidisciplinary approach to DM, emphasizing the importance of genetic counseling, comprehensive clinical care, and symptom management. We discuss the genetic basis of DM, emphasizing the role of repeat expansions in disease pathogenesis, as well as cellular and animal models utilized for studying DM mechanisms and testing potential therapies. Diagnostic challenges, such as determining the size of disease expansions and assessing mosaicism, are elucidated alongside emerging genetic testing methods. Therapeutic strategies, mainly for DM1, are also explored, encompassing small molecules, nucleic acid-based therapies (NATs), and genome/transcriptome engineering. The challenges of such a therapeutic delivery and immunogenic response and the importance of innovative strategies, including viral vectors and AAV serotypes, are highlighted within the text. While no curative treatments have been approved, supportive and palliative care remains essential, with a focus on addressing multisystemic complications and maintaining functional independence. Continued exploration of these therapeutic advancements offers hope for comprehensive disease management and potentially curative therapies for DM1 and related disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39643839"
-},
{
"id": "pmid:39703464",
"manubot_success": true,
@@ -3237,76 +3702,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39107278"
},
-{
- "id": "pmid: 39107278",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39107278",
- "title": "Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.",
- "type": "article-journal",
- "doi": "10.1038/s41467-024-50159-6",
- "authors": [
- ["Christy W", "LaFlamme"],
- ["Cassandra", "Rastin"],
- ["Soham", "Sengupta"],
- ["Helen E", "Pennington"],
- ["Sophie J", "Russ-Hall"],
- ["Amy L", "Schneider"],
- ["Emily S", "Bonkowski"],
- ["Edith P", "Almanza Fuerte"],
- ["Talia J", "Allan"],
- ["Miranda Perez-Galey", "Zalusky"],
- ["Joy", "Goffena"],
- ["Sophia B", "Gibson"],
- ["Denis M", "Nyaga"],
- ["Nico", "Lieffering"],
- ["Malavika", "Hebbar"],
- ["Emily V", "Walker"],
- ["Daniel", "Darnell"],
- ["Scott R", "Olsen"],
- ["Pandurang", "Kolekar"],
- ["Mohamed Nadhir", "Djekidel"],
- ["Wojciech", "Rosikiewicz"],
- ["Haley", "McConkey"],
- ["Jennifer", "Kerkhof"],
- ["Michael A", "Levy"],
- ["Raissa", "Relator"],
- ["Dorit", "Lev"],
- ["Tally", "Lerman-Sagie"],
- ["Kristen L", "Park"],
- ["Marielle", "Alders"],
- ["Gerarda", "Cappuccio"],
- ["Nicolas", "Chatron"],
- ["Leigh", "Demain"],
- ["David", "Genevieve"],
- ["Gaetan", "Lesca"],
- ["Tony", "Roscioli"],
- ["Damien", "Sanlaville"],
- ["Matthew L", "Tedder"],
- ["Sachin", "Gupta"],
- ["Elizabeth A", "Jones"],
- ["Monika", "Weisz-Hubshman"],
- ["Shamika", "Ketkar"],
- ["Hongzheng", "Dai"],
- ["Kim C", "Worley"],
- ["Jill A", "Rosenfeld"],
- ["Hsiao-Tuan", "Chao"],
- ["Geoffrey", "Neale"],
- ["Gemma L", "Carvill"],
- ["Zhaoming", "Wang"],
- ["Samuel F", "Berkovic"],
- ["Lynette G", "Sadleir"],
- ["Danny E", "Miller"],
- ["Ingrid E", "Scheffer"],
- ["Bekim", "Sadikovic"],
- ["Heather C", "Mefford"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2024-08-06",
- "abstract": "Sequence-based genetic testing identifies causative variants in ~\u200950% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain unstudied in DEEs. We interrogate the diagnostic utility of genome-wide DNA methylation array analysis on peripheral blood samples from 582 individuals with genetically unsolved DEEs. We identify rare differentially methylated regions (DMRs) and explanatory episignatures to uncover causative and candidate genetic etiologies in 12 individuals. Using long-read sequencing, we identify DNA variants underlying rare DMRs, including one balanced translocation, three CG-rich repeat expansions, and four copy number variants. We also identify pathogenic variants associated with episignatures. Finally, we refine the CHD2 episignature using an 850\u2009K methylation array and bisulfite sequencing to investigate potential insights into CHD2 pathophysiology. Our study demonstrates the diagnostic yield of genome-wide DNA methylation analysis to identify causal and candidate variants as 2% (12/582) for unsolved DEE cases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed: 39107278"
-},
{
"id": "pmid:18325013",
"manubot_success": true,
@@ -3727,6 +4122,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38454488"
},
+{
+ "id": "pmid:42182465",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42182465",
+ "title": "A chemoinformatics-guided platform for efficient discovery of RNA-binding small molecules: Proof-of-concept for myotonic dystrophy type 1.",
+ "type": "article-journal",
+ "doi": "10.64898/2026.05.08.723748",
+ "authors": [
+ ["Amirhossein", "Taghavi"],
+ ["Jingsong", "Shan"],
+ ["Xiyuan", "Yao"],
+ ["Patrick R A", "Zanon"],
+ ["Kisu", "Sung"],
+ ["\u00c1lvaro", "Simba-Lahuasi"],
+ ["Sylwia", "Gorlach"],
+ ["Henning", "Labuhn"],
+ ["David", "Salthouse"],
+ ["Zhen", "Wang"],
+ ["Adeline", "Feri"],
+ ["Matthew D", "Disney"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2026-05-11",
+ "abstract": "Structured RNAs cause human diseases but remain challenging to target selectively with small molecules. Here, we report a chemoinformatics-guided discovery framework that integrates fingerprint-based molecular design, experimental validation, and mechanistic profiling to identify small molecules that bind highly structured, disease-associated RNAs. Using an RNA-binder fingerprint derived from known ligands, a Tversky similarity screen of >8 million compounds yielded a 150-member library enriched in chemical space for RNA-active scaffolds. Target engagement and cell-based assays identified multiple selective ligands for the pathogenic expanded triplet repeat, r(CUG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42182465"
+},
{
"id": "pmid:39932794",
"manubot_success": true,
@@ -3829,6 +4252,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32851192"
},
+{
+ "id": "pmid:39710066",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710066",
+ "title": "Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.",
+ "type": "article-journal",
+ "doi": "10.1016/j.mcp.2024.102005",
+ "authors": [
+ ["Ingrid", "Lojova"],
+ ["Marcel", "Kucharik"],
+ ["Zuzana", "P\u00f6s"],
+ ["Andrej", "Balaz"],
+ ["Andrea", "Zatkova"],
+ ["Eva", "Tothova Tarova"],
+ ["Jaroslav", "Budis"],
+ ["Ludevit", "Kadasi"],
+ ["Tomas", "Szemes"],
+ ["Jan", "Radvanszky"]
+ ],
+ "publisher": "Molecular and cellular probes",
+ "issn": "1096-1194",
+ "date": "2024-12-29",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic challenges exist. Firstly, because of overlapping symptomatology with other conditions, conventional DNA-testing methods focusing on DM1 expansion detection ensure diagnostic results only in a small subset of patients, and frequently, further DNA-testing in remaining cases is necessary. Secondly, because of variable symptomatology and age of onset, not all DM1 patients are referred for DM1 genetic testing, leading to unrecognized but at-risk cases. When using conventional methods, the main technical problems are expanded-allele sizing and sensitivity to the presence of sequence interruptions. On a set of 50 individual genomes, including ten DM1 patients, we tested the performance of short-read whole-genome sequencing (WGS), one of the most up-to-date molecular testing methods. We identified all expansion-range DM1 alleles and characterized sequence interruptions in seven expansion-range/premutation-range alleles. Although neither the tested conventional methods, nor WGS allowed expanded-allele sizing, conventional methods provided higher sizing limits for normal-range alleles. Genotyping concordance rate was found to be 95-99\u00a0%. WGS was found to be superior in elucidating the sequence structure of the motifs, even if they fall outside the sizing limit (from partial reads). In addition, WGS enables the identification of genetic modifiers in other genes and the detection of alternative diagnoses in DM1-negative patients by extension of the bioinformatic evaluation of the generated data.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710066"
+},
{
"id": "pmid:35741732",
"manubot_success": true,
@@ -3851,6 +4300,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35741732"
},
+{
+ "id": "pmid:39679849",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39679849",
+ "title": "Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddae186",
+ "authors": [
+ ["Masayoshi", "Kamon"],
+ ["Shuji", "Wakatsuki"],
+ ["Masayuki", "Nakamori"],
+ ["Masanori P", "Takahashi"],
+ ["Madoka", "Mori-Yoshimura"],
+ ["Hirofumi", "Komaki"],
+ ["Toshiyuki", "Araki"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2025-02-08",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability. It has been demonstrated that DM1 patient-derived induced pluripotent stem cells (DM1-iPSCs) show repeat instability, in which involvement of mismatch repair proteins has been suggested. Here we identified ZNF850 as a novel CTG repeat expansion-related molecule in DM1-iPSCs. ZNF850 was downregulated in a DM1-iPSC clone whose CTG repeat is exceptionally stable. We found that RNAi-mediated ZNF850 downregulation in DM1-iPSCs significantly reduced the repeat expansion and resulting instability. In adult skeletal muscle tissue of DM1 patients, ZNF850 expression levels were positively correlated with the repeat size. Furthermore, we found that ZNF850 protein can bind to the expanded CTG repeat sequence, and is located in proximity to MutS\u03b2 components. These results suggest that ZNF850 might play a role in repeat instability in DM1 by recruiting MutS\u03b2 to the repeat sequence.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39679849"
+},
{
"id": "pmid:1310900",
"manubot_success": true,
@@ -4632,6 +5104,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41277530"
},
+{
+ "id": "pmid:42204984",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42204984",
+ "title": "GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.",
+ "type": "article-journal",
+ "doi": "10.1111/cge.70184",
+ "authors": [
+ ["Eva-Maria", "Kraus"],
+ ["Johannes", "Lenz"],
+ ["Pauline", "Ploettner"],
+ ["Patricia", "Duffek"],
+ ["Jost-Julian", "Rumpf"],
+ ["Rami Abou", "Jamra"],
+ ["John", "Wiedenhoeft"],
+ ["Denny", "Popp"]
+ ],
+ "publisher": "Clinical genetics",
+ "issn": "1399-0004",
+ "date": "2026-05-28",
+ "abstract": "GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long-range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom bioinformatics pipeline based on a modified cyclic Smith-Waterman algorithm. This approach provided streamlined detection and enabled precise genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an intermediate repeat expansion. Diagnostic yield varied substantially by clinical presentation: 50% in cases with typical GAA-FGF14-ataxia features, 13% in patients with compatible but less characteristic features and 5% in atypical presentations. In conclusion, this study further corroborates existing evidence that GAA-FGF14 ataxia is a frequent cause of both sporadic and familial cerebellar ataxia. Given its high diagnostic yield and the limited detectability by standard short-read genome sequencing, targeted testing should be more widely implemented.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42204984"
+},
{
"id": "pmid:38886208",
"manubot_success": true,
@@ -4742,6 +5238,53 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37267898"
},
+{
+ "id": "pmid:42096001",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42096001",
+ "title": "Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02003-4",
+ "authors": [
+ ["Marta", "Matlawska"],
+ ["Karolina", "Ziora-Jakutowicz"],
+ ["Marie-Josee", "Dicaire"],
+ ["Joanna", "Pera"],
+ ["David", "Pellerin"],
+ ["Bernard", "Brais"],
+ ["Pablo", "Iruzubieta"],
+ ["Ewelina", "Elert-Dobkowska"],
+ ["Anna", "Sulek"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-07",
+ "abstract": "Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat expansion in the FGF14 gene, has recently emerged as a major cause of late-onset cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and Eastern Europe remain largely unknown. To determine the frequency and phenotypic characteristics of FGF14 GAA\u00b7TTC repeat expansions, a large cohort of Polish patients with undiagnosed adult-onset cerebellar ataxia was investigated. We retrospectively analyzed 701 patients (age of onset\u2009\u2265\u200925 years) with adult-onset cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2, SCA3, SCA8, and RFC1 expansions. GAA\u00b7TTC repeat lengths were assessed using long-range and repeat-primed PCR. Expansions\u2009\u2265\u2009250 repeats were classified as pathogenic. Clinical and MRI data were evaluated where available. A control group of 66 neurologically healthy individuals was also screened. Pathogenic FGF14 expansions (\u2265\u2009250 repeats) were identified in 4.4% (31/701) of patients, including 23 with fully penetrant (\u2265\u2009300) and 8 with incompletely penetrant (250-299) alleles. No pathogenic expansions were found in controls. The mean age of onset was 49.8 years. Common symptoms included balance and gait disturbances, cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy was present in 45% of patients with available MRI. No significant correlation between repeat length and age of onset was observed. Our findings confirm that FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and support their inclusion in standard genetic testing for adult-onset ataxias. Further studies are warranted to better define penetrance and genotype-phenotype correlations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42096001"
+},
+{
+ "id": "pmid:42090775",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42090775",
+ "title": "Challenges in the diagnosis of spinocerebellar ATAXIA 27B.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jns.2026.125969",
+ "authors": [
+ ["N\u00faria Caballol", "Pons"],
+ ["Alejandro Peral", "Quir\u00f3s"],
+ ["Anna", "Planas-Ballv\u00e9"],
+ ["Paula Lombardo", "Del Toro"],
+ ["Imma Hernan", "Sendra"],
+ ["Asunci\u00f3n \u00c1vila", "Rivera"]
+ ],
+ "publisher": "Journal of the neurological sciences",
+ "issn": "1878-5883",
+ "date": "2026-04-30",
+ "abstract": "To characterize the clinical, radiologic, and genetic spectrum of patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic challenges associated with spinocerebellar ataxia type 27B (SCA27B).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42090775"
+},
{
"id": "pmid:36493768",
"manubot_success": true,
@@ -4815,6 +5358,49 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42044943"
},
+{
+ "id": "pmid:39996128",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39996128",
+ "title": "Involvement of the Superior Cerebellar Peduncles in GAA-",
+ "type": "article-journal",
+ "doi": "10.1212/nxg.0000000000200253",
+ "authors": [
+ ["Shihan", "Chen"],
+ ["Catherine", "Ashton"],
+ ["Rawan", "Sakalla"],
+ ["Guillemette", "Clement"],
+ ["Sophie", "Planel"],
+ ["C\u00e9line", "Bonnet"],
+ ["Phillipa J", "Lamont"],
+ ["Karthik", "Kulanthaivelu"],
+ ["Atchayaram", "Nalini"],
+ ["Henry", "Houlden"],
+ ["Antoine", "Duquette"],
+ ["Marie-Jos\u00e9e", "Dicaire"],
+ ["Pablo", "Iruzubieta Agudo"],
+ ["Javier", "Ruiz-Martinez"],
+ ["Enrique", "Marco De Lucas"],
+ ["Rodrigo", "Sutil Berjon"],
+ ["Jon", "Infante Ceberio"],
+ ["Elisabetta", "Indelicato"],
+ ["Sylvia M", "Boesch"],
+ ["Matthis", "Synofzik"],
+ ["Benjamin", "Bender"],
+ ["Matt C", "Danzi"],
+ ["Stephan", "Zuchner"],
+ ["David", "Pellerin"],
+ ["Bernard", "Brais"],
+ ["Mathilde", "Renaud"],
+ ["Roberta", "La Piana"]
+ ],
+ "publisher": "Neurology. Genetics",
+ "issn": "2376-7839",
+ "date": "2025-02-21",
+ "abstract": "GAA-",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39996128"
+},
{
"id": "pmid:17427188",
"manubot_success": true,
@@ -4984,7 +5570,7 @@
],
"publisher": "Human reproduction (Oxford, England)",
"issn": "1460-2350",
- "date": "2026-04-19",
+ "date": "2026-06-01",
"abstract": "Does FMR1 repeat length confer clinically meaningful predictive value for premature ovarian insufficiency (POI)?",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001465"
@@ -6353,36 +6939,42 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31664039"
},
{
- "id": "pmid: 40788430",
+ "id": "pmid:41268177",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40788430",
- "title": "First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41268177",
+ "title": "Novel, complex configurations of the",
"type": "article-journal",
- "doi": "10.1007/s10048-025-00835-6",
+ "doi": "10.1093/braincomms/fcaf433",
"authors": [
- ["B Lakshitha A", "Perera"],
- ["Russell", "Stewart"],
- ["Yutaka", "Furuta"],
- ["Kimberly M", "Ezell"],
- ["Lynette", "Rives"],
- ["Bethany", "Nunley"],
- ["Ashley", "McMinn"],
- ["Alyson", "Krokosky"],
- ["Serena", "Neumann"],
- ["Mary E", "Koziura"],
- ["Rizwan", "Hamid"],
- ["Joy D", "Cogan"],
- ["Thomas A", "Cassini"],
- ["Eric R", "Gamazon"],
- ["John A", "Phillips Iii"],
- ["Rory J", "Tinker"]
+ ["Mark F", "Bennett"],
+ ["Mark A", "Corbett"],
+ ["Thessa", "Kroes"],
+ ["Laura", "Canafoglia"],
+ ["Karen L", "Oliver"],
+ ["Jillian M", "Cameron"],
+ ["Neblina", "Sikta"],
+ ["Jacob", "Munro"],
+ ["Liam G", "Fearnley"],
+ ["Kristina", "Iba\u00f1ez"],
+ ["Arianna", "Tucci"],
+ ["Sanjay M", "Sisodiya"],
+ ["Michael S", "Hildebrand"],
+ ["Ingrid E", "Scheffer"],
+ ["Carolina", "Courage"],
+ ["Anna-Elina", "Lehesjoki"],
+ ["Loretta", "Giuliano"],
+ ["Giuseppe", "Didato"],
+ ["Silvana", "Franceschetti"],
+ ["Jozef", "Gecz"],
+ ["Samuel F", "Berkovic"],
+ ["Melanie", "Bahlo"]
],
- "publisher": "Neurogenetics",
- "issn": "1364-6753",
- "date": "2025-08-11",
- "abstract": "Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)",
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2025-11-03",
+ "abstract": "Repeat expansions are a known cause of progressive myoclonic epilepsy (PME) and familial adult myoclonic epilepsy (FAME). We hypothesized that PME and FAME may have an overlapping phenotypic spectrum and searched for pathogenic repeat expansions in 18 individuals from 15 families with later-onset PME or FAME. We generated whole genome sequencing data by short-read sequencing and searched for known and novel repeat expansions. No known, pathogenic repeat expansions were identified. Instead, we discovered a novel TTGTA expansion in the gene",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed: 40788430"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41268177"
},
{
"id": "pmid:38714868",
@@ -6583,33 +7175,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23396133"
},
-{
- "id": "pmid:39781475",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39781475",
- "title": "",
- "type": "article-journal",
- "doi": "10.1093/ckj/sfae355",
- "authors": [
- ["Jeff", "Granh\u00f8j"],
- ["Dorte L", "Lildballe"],
- ["Katja V", "Pedersen"],
- ["Birgitte G", "Tougaard"],
- ["Martin", "Sokol"],
- ["Mads M", "Aagaard"],
- ["Annabeth H", "Petersen"],
- ["Tilde", "Kristensen"],
- ["Malene", "Djursby"],
- ["Henrik", "Birn"],
- ["Maria", "Rasmussen"]
- ],
- "publisher": "Clinical kidney journal",
- "issn": "2048-8505",
- "date": "2024-11-18",
- "abstract": "Frameshift variants in the variable number tandem repeat region of",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39781475"
-},
{
"id": "pmid:39455596",
"manubot_success": true,
@@ -6837,6 +7402,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34179866"
},
+{
+ "id": "pmid:25101480",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:37810464",
"manubot_success": true,
@@ -7076,6 +7647,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42058219"
},
+{
+ "id": "pmid:39920690",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39920690",
+ "title": "uN2CpolyG-mediated p65 nuclear sequestration suppresses the NF-\u03baB-NLRP3 pathway in neuronal intranuclear inclusion disease.",
+ "type": "article-journal",
+ "doi": "10.1186/s12964-025-02079-1",
+ "authors": [
+ ["Yu", "Shen"],
+ ["Kaiyan", "Jiang"],
+ ["Dandan", "Tan"],
+ ["Min", "Zhu"],
+ ["Yusen", "Qiu"],
+ ["Pencheng", "Huang"],
+ ["Wenquan", "Zou"],
+ ["Jianwen", "Deng"],
+ ["Zhaoxia", "Wang"],
+ ["Ying", "Xiong"],
+ ["Daojun", "Hong"]
+ ],
+ "publisher": "Cell communication and signaling : CCS",
+ "issn": "1478-811X",
+ "date": "2025-02-07",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is genetically linked to CGG repeat expansion in the 5'-untranslated region of the NOTCH2NLC gene, with nascent polyglycine-containing protein (uN2CpolyG) identified as a primary pathogenic factor. Emerging clinical evidence suggests that inflammation contributes to NIID pathogenesis, yet the underlying molecular mechanisms remain elusive. This study aimed to elucidate the molecular interaction between uN2CpolyG and the NF-\u03baB-NLRP3 pathway.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39920690"
+},
{
"id": "pmid:41539185",
"manubot_success": true,
@@ -7374,6 +7972,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42005169"
},
+{
+ "id": "pmid:42001002",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42001002",
+ "title": "Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions.",
+ "type": "article-journal",
+ "doi": "10.1186/s12883-026-04898-2",
+ "authors": [
+ ["Hang", "Zhang"],
+ ["Taiqi", "Zhao"],
+ ["Honglin", "Zheng"],
+ ["Suying", "Duan"],
+ ["Chenyang", "Liu"],
+ ["Yaochong", "Zhang"],
+ ["Qiang", "Li"],
+ ["Han", "Liu"],
+ ["Haiyang", "Luo"],
+ ["Yuming", "Xu"]
+ ],
+ "publisher": "BMC neurology",
+ "issn": "1471-2377",
+ "date": "2026-04-18",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder caused by abnormal GGC repeat expansions in the NOTCH2NLC gene, leading to multisystem involvement. Electrophysiological abnormalities in NIID have gained increasing attention in recent years. However, subclinical peripheral neuropathy preceding the onset of typical NIID manifestations has not been reported. In this study, we systematically evaluated the clinical characteristics of a family carrying pathogenic NOTCH2NLC expansions. Electrophysiological assessments revealed demyelinating changes in some family members, with or without the classic clinical features of NIID. Notably, one individual with biallelic NOTCH2NLC GGC repeat expansions exhibited subclinical peripheral neuropathy in the absence of overt NIID symptoms. As NIID is typically inherited in an autosomal dominant manner, cases with biallelic GGC repeat expansions are exceedingly rare. To explore the genotype\u2013phenotype relationship, we employed long-read whole-genome sequencing using Oxford Nanopore and Pacific Biosciences (PacBio) technologies. Our results suggest that biallelic repeat expansions do not necessarily exacerbate the severity or progression of NIID. Although larger studies are warranted to confirm these findings, this investigation broadens the clinical and genetic spectrum of NIID and provides new insights into its underlying pathogenesis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001002"
+},
{
"id": "pmid:38159879",
"manubot_success": true,
@@ -7545,6 +8169,35 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9462747"
},
+{
+ "id": "pmid:42157275",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42157275",
+ "title": "The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.",
+ "type": "article-journal",
+ "doi": "10.1186/s13023-026-04313-6",
+ "authors": [
+ ["Merav", "Ben-David"],
+ ["Lior", "Greenbaum"],
+ ["Vera", "Nikitn"],
+ ["Alex", "Zvulunov"],
+ ["Hagit", "Charas"],
+ ["Naama", "Divon"],
+ ["Tali", "Barkan"],
+ ["Odelia", "Chorin"],
+ ["Haike", "Reznik-Wolf"],
+ ["Ofira", "Zloto"],
+ ["Limor", "Benyamini"],
+ ["Shahar", "Shelly"],
+ ["Amir", "Dori"]
+ ],
+ "publisher": "Orphanet journal of rare diseases",
+ "issn": "1750-1172",
+ "date": "2026-05-19",
+ "abstract": "BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1 gene. In Israel, OPMD is particularly prevalent among individuals of Jewish Bukharian descent due to a (GCN)13 repeat expansion. In this retrospective study, we collected genetic and clinical data of OPMD patients who visited the Israeli reference clinic from its opening in 2022 through September 2025 and were enrolled in the Israeli OPMD registry (IsrO-PMD). RESULTS: A total of 102 Jewish individuals with OPMD symptoms and a confirmed molecular diagnosis were identified (52 males, 51.0%). The heterozygous (GCN)13 repeat allele (10/13 genotype) was found in 95 patients (93.1%), of whom 89 (93.7%) were of Bukharian descent, five (5.6%) were of Bulgarian origin, and a single patient was from Georgia. In this 10/13 genotype group (n\u2009=\u200995), initial symptoms were dysphagia and ptosis, which occurred at a similar mean age of 53.0\u2009\u00b1\u20098.3 and 53.9\u2009\u00b1\u20097.2 years, respectively. Symptoms of limb muscle weakness occurred significantly later, at a mean age of 57.9\u2009\u00b1\u200910.2\u2009years. Overall, the onset of symptoms occurred approximately 4\u2009years earlier in females (48.9\u2009\u00b1\u20097.9, n\u2009=\u200948) than in males (52.6\u2009\u00b1\u20097.1, n\u2009=\u200947), and this difference was statistically significant (p\u2009=\u20090.02). However, the difference did not reach significance when calculated for each of the three symptoms separately. On evaluation, at a mean age of 61.6\u2009\u00b1\u200910.7\u2009years, dysphagia was present in 92/95 (96.8%) of patients, ptosis in 85/95 (89.5%), and limb muscle weakness in 56/95 (58.9%) of cases, most notably of hip flexion and abduction. Different genotypes were detected in seven patients: Three of Bukharian descent were homozygous for (GCN)13 repeats, three of Karaite descent were homozygous for (GCN)11 repeats, and one of Tunisian origion was heterozygous for (GCN)15 repeats (10/15 genotype). DISCUSSION: While most OPMD patients in Israel are of Jewish Bukharian descent, patients from other origins were also identified. Dysphagia and ptosis are the common initial symptoms, and overall, the onset of symptoms was reportedly earlier in females. Proximal muscle weakness becomes common with disease progression. Further studies are required to delineate genotype-phenotype correlations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42157275"
+},
{
"id": "pmid:15121777",
"manubot_success": true,
@@ -7969,6 +8622,32 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19043662"
},
+{
+ "id": "pmid:42105155",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42105155",
+ "title": "Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar Ataxia Type 12.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02015-0",
+ "authors": [
+ ["Rebecca", "Banerjee"],
+ ["Swarnava", "Sengupta"],
+ ["Jyoti", "Rungta"],
+ ["Sabbir", "Ansari"],
+ ["Sattwika", "Banerjee"],
+ ["Bishmita", "Biswas"],
+ ["Rakhi", "Pal"],
+ ["Sumantra", "Chattarji"],
+ ["Supriyo", "Choudhury"],
+ ["Hrishikesh", "Kumar"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-09",
+ "abstract": "Spinocerebellar ataxia type 12 (SCA12), a progressive neurological disorder, is the second-most common autosomal dominant ataxia in India. The disease is clinically heterogeneous with a variable age-of-onset. A CAG repeat expansion mutation upstream of PPP2R2B gene is causal to SCA12 motor and non-motor symptoms but its pathophysiological significance remains unknown. PPP2R2B encodes for the regulatory subunit B of the protein phosphatase 2\u00a0A (PP2A), a major regulator of amyloid beta (A\u03b2) and tau proteins. We aimed to determine whether PPP2R2B mutation leads to A\u03b2 and tau dysregulation in SCA12. Plasma A\u03b242/A\u03b240 ratio, a core biomarker for A\u03b2 toxicity and cognitive impairment was further investigated. This cross-sectional study included 27 genetically confirmed SCA12 patients and 24 healthy controls. The patients were subjected to ICARS and MoCA clinical scales for disease severity and cognition respectively. Plasma levels for A\u03b242, A\u03b240, total tau (t-tau) and phosphorylated tau (p-tau) levels were estimated spectrophotometrically using validated ELISA kits. A significant decrease in the plasma A\u03b240 level (p\u2009=\u20090.014) and an increase in the A\u03b242/A\u03b240 ratio (p\u2009=\u20090.007) was observed in SCA12. Total tau and p-tau levels were unchanged. No significant correlation of the plasma A\u03b2 and tau proteins with clinical parameters was obtained. In SCA12, we identified an altered plasma A\u03b2 profile indicative of abnormal peripheral amyloidogenesis. Plasma A\u03b2 and tau concentrations were not correlated with the patients' cognitive status. The dynamic ratiometric A\u03b242/A\u03b240 shift in plasma is a forerunner of A\u03b2 neurotoxicity and opens novel avenues for A\u03b2-targeted therapy in SCA12.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42105155"
+},
{
"id": "pmid:11198281",
"manubot_success": true,
@@ -8175,6 +8854,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36977684"
},
+{
+ "id": "pmid:29939637",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:1683708",
"manubot_success": true,
@@ -9771,6 +10456,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39651830"
},
+{
+ "id": "pmid:40589716",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40589716",
+ "title": "Intronic hexanucleotide repeat expansion in",
+ "type": "article-journal",
+ "doi": "10.3892/br.2025.2016",
+ "authors": [
+ ["Sunisa", "Kanchanasutthiyakorn"],
+ ["Sakchai", "Chaiyamahapurk"],
+ ["Siraprapa", "Tongkobpetch"],
+ ["Kanokwan", "Santawong"],
+ ["Chalurmpon", "Srichomthong"],
+ ["Tippayakarn", "Klomchan"],
+ ["Chaiyaporn", "Virochsangaroon"],
+ ["Monnat", "Pongpanich"],
+ ["Prateep", "Warnnissorn"],
+ ["Sutatip", "Pongcharoen"],
+ ["Vorasuk", "Shotelersuk"]
+ ],
+ "publisher": "Biomedical reports",
+ "issn": "2049-9442",
+ "date": "2025-06-12",
+ "abstract": "Hyperpigmentation presents a diverse clinical spectrum, largely influenced by genetic factors that remain incompletely understood. The present study describes a case of monozygotic twin girls aged 15 years with congenital progressive universal melanosis (CPUM) born to non-consanguineous unaffected parents. CPUM represents a novel clinical entity characterized by progressive widespread hyperpigmentation beginning at birth, without other accompanying symptoms. Skin biopsy and histopathological analysis were performed, followed by long-read whole-genome sequencing and short tandem repeat analysis. Gene expression was evaluated using reverse transcription-PCR, and protein levels were assessed by western blotting in cultured skin fibroblasts from the twins and unaffected controls. Long-read genome sequencing revealed a biallelic GATGGT repeat expansion of 210-259 repeat units within the third intron of the thymidylate synthase (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40589716"
+},
{
"id": "pmid:33559681",
"manubot_success": true,
@@ -9958,6 +10670,12 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31539032"
},
+{
+ "id": "pmid:39666847",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
{
"id": "pmid:38973251",
"manubot_success": true,
@@ -11086,6 +11804,40 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37205357"
},
+{
+ "id": "pmid:42239750",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42239750",
+ "title": "A Novel Patient-Derived Xenograft Model of Inflammatory Breast Cancer.",
+ "type": "article-journal",
+ "doi": "10.21203/rs.3.rs-9372889/v1",
+ "authors": [
+ ["Princess", "Ekpo"],
+ ["Monica", "Khattak"],
+ ["Tiffany", "Cheung"],
+ ["Yun Yun", "Su"],
+ ["Pushpinder K", "Bains"],
+ ["Ivan", "Juric"],
+ ["Vladimir", "Makarov"],
+ ["Daniel", "Campo"],
+ ["Patrick", "McIntire"],
+ ["Alexander", "Ring"],
+ ["Gregor", "Krings"],
+ ["Karin", "List"],
+ ["James", "Hicks"],
+ ["Michael F", "Press"],
+ ["Ruth", "Keri"],
+ ["Michael", "Stanczyk"],
+ ["Gigi", "Sengupta"],
+ ["Julie E", "Lang"]
+ ],
+ "publisher": "Research square",
+ "issn": "2693-5015",
+ "date": "2026-05-18",
+ "abstract": "Few models exist for studying experimental therapeutics in inflammatory breast cancer (IBC). Our study objective was to characterize a novel patient-derived xenograft (PDX) from a HER2 positive IBC patient refractory to neoadjuvant chemotherapy.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42239750"
+},
{
"id": "pmid:42196324",
"manubot_success": true,
@@ -11327,7 +12079,7 @@
"publisher": "BMC neurology",
"issn": "1471-2377",
"date": "2025-12-08",
- "abstract": "Hemorrhage expansion (HE) is associated with morbidity and mortality in acute ischemic stroke hemorrhagic transformation (HT) patients. To address the research gap in HE related to large-artery atherosclerosis acute ischemic stroke with hemorrhagic transformation (LAA-AIS-HT) patients, this study focused on examining the correlation between IBI and HE.",
+ "abstract": "BACKGROUND: Hemorrhage expansion (HE) is associated with morbidity and mortality in acute ischemic stroke hemorrhagic transformation (HT) patients. To address the research gap in HE related to large-artery atherosclerosis acute ischemic stroke with hemorrhagic transformation (LAA-AIS-HT) patients, this study focused on examining the correlation between IBI and HE. METHODS: We enrolled 357 LAA-AIS-HT patients and categorized into two groups depending on the presence of HE. Information on general demographics, laboratory data, and medical imaging examinations were obtained. The area under the receiver operating characteristic (ROC) curve was used to determine the predictive value. Logistic regression analysis was performed to assess comparison. RESULTS: A total of 357 LAA-AIS-HT patients enrolled in the study, 258 patients (72.3%) were male and the mean age (65.8\u2009\u00b1\u200911.7) years old. HE occurred in 54 patients (15.1%). After adjusting for confounders, IBI (odds ratio [OR] 1.034, 95% Confidence Interval [CI] 1.019\u20131.050, p\u2009<\u20090.001) was independently associated with HE in LAA-AIS-HT patients. When analyzing LAA subtypes individually, IBI was found to have a significantly predictive association with HE in AIS-HT patients across artery-to-artery embolization (OR 1.029, 95% CI 1.009\u20131.48, P\u2009=\u20090.003), in-situ thrombosis (OR 1.026, 95% CI 1.006\u20131.046, P\u2009=\u20090.010), hypoperfusion (OR 1.115, 95% CI 1.009\u20131.231, P\u2009=\u20090.033) and branch atheromatous disease (OR 1.051, 95% CI 1.007\u20131.097, P\u2009=\u20090.024). CONCLUSION: Among patients with LAA-AIS-HT, an increase in IBI was correlated with a greater risk of HE, with the association being prominent in the artery-to-artery embolization, in-situ thrombosis, and branch atheromatous disease subtypes of LAA.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41361869"
},
@@ -12647,28 +13399,9 @@
},
{
"id": "pmid:34372915",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34372915",
- "title": "Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.",
- "type": "article-journal",
- "doi": "10.1186/s13073-021-00932-9",
- "authors": [
- ["Indhu-Shree", "Rajan-Babu"],
- ["Junran J", "Peng"],
- ["Readman", "Chiu"],
- ["Chenkai", "Li"],
- ["Arezoo", "Mohajeri"],
- ["Egor", "Dolzhenko"],
- ["Michael A", "Eberle"],
- ["Inanc", "Birol"],
- ["Jan M", "Friedman"]
- ],
- "publisher": "Genome medicine",
- "issn": "1756-994X",
- "date": "2021-08-09",
- "abstract": "Screening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counseling of patients with repeat expansion disorders. We aimed to develop an efficient computational workflow for reliable detection of STR expansions in next-generation sequencing data and demonstrate its clinical utility.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34372915"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/34372915",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34372915']' timed out after 3 seconds"
},
{
"id": "pmid:34006154",
@@ -13222,33 +13955,9 @@
},
{
"id": "pmid:30940675",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30940675",
- "title": "DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5.",
- "type": "article-journal",
- "doi": "10.15252/emmm.201708547",
- "authors": [
- ["Naohide", "Kondo"],
- ["Genki", "Tohnai"],
- ["Kentaro", "Sahashi"],
- ["Madoka", "Iida"],
- ["Mayumi", "Kataoka"],
- ["Hideaki", "Nakatsuji"],
- ["Yutaka", "Tsutsumi"],
- ["Atsushi", "Hashizume"],
- ["Hiroaki", "Adachi"],
- ["Haruki", "Koike"],
- ["Keiko", "Shinjo"],
- ["Yutaka", "Kondo"],
- ["Gen", "Sobue"],
- ["Masahisa", "Katsuno"]
- ],
- "publisher": "EMBO molecular medicine",
- "issn": "1757-4684",
- "date": "2019-05-01",
- "abstract": "Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine-mediated neuromuscular disease caused by a CAG repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30940675"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/30940675",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:30940675']' timed out after 3 seconds"
},
{
"id": "pmid:30886222",
@@ -22174,6 +22883,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15533998"
},
+{
+ "id": "pmid:42359808",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42359808",
+ "title": "Clinical features of dentatorubral-pallidoluysian atrophy: A survey of Chinese patients.",
+ "type": "article-journal",
+ "doi": "10.1177/03000605261463715",
+ "authors": [
+ ["Na", "Zheng"],
+ ["Miao", "Li"],
+ ["Yun-Xia", "Wang"],
+ ["Guo-En", "Yao"]
+ ],
+ "publisher": "The Journal of international medical research",
+ "issn": "1473-2300",
+ "date": "2026-06-26",
+ "abstract": "ObjectiveWe aimed to characterize the clinical, magnetic resonance imaging, and genetic features of Chinese patients with dentatorubral-pallidoluysian atrophy.MethodsIn this retrospective case-series and literature-review study, we analyzed three affected members belonging to the same family diagnosed at our institution. We also reviewed genetically confirmed Chinese dentatorubral-pallidoluysian atrophy cases reported in the China National Knowledge Infrastructure, Wanfang, and PubMed databases up to 31 May 2025 and included additional 42 patients from separate families. Cases with available age at onset, initial symptoms, and CAG repeat size were included; cases without magnetic resonance imaging data were excluded only from imaging-specific analyses. Thus, the final cohort included 45 Chinese dentatorubral-pallidoluysian atrophy patients.ResultsForty-five patients were analyzed. The median",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42359808"
+},
{
"id": "pmid:41624332",
"manubot_success": true,
@@ -26668,32 +27397,25 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15300851"
},
{
- "id": "pmid:41229449",
+ "id": "pmid:42320256",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41229449",
- "title": "Novel",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42320256",
+ "title": "Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and preliminary evaluation of neurofilament light chain as a biomarker.",
"type": "article-journal",
- "doi": "10.1212/nxg.0000000000200316",
+ "doi": "10.1016/j.parkreldis.2026.108396",
"authors": [
- ["Kamilla", "Sedov"],
- ["Carla", "Manrique-Enciso"],
- ["Madison James", "Yang"],
- ["Ismael", "Araujo-Aliaga"],
- ["Egor", "Dolzhenko"],
- ["Samantha", "Kalla"],
- ["Sarah Bowman", "Kingan"],
- ["Elison", "Sarapura-Castro"],
- ["Andrea Rivera-", "Valdivia"],
- ["Maryenela Zaida", "Illanes-Manrique"],
- ["Mario", "Cornejo-Olivas"],
- ["Birgitt", "Sch\u00fcle"]
+ ["Tomasz", "Chmiela"],
+ ["Ignacio", "Pozo Cabanell"],
+ ["Leonard", "Petrucelli"],
+ ["Mercedes", "Prudencio"],
+ ["Zbigniew K", "Wszolek"]
],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2025-11-10",
- "abstract": "Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by intronic expansions of pentanucleotide repeats in the",
+ "publisher": "Parkinsonism & related disorders",
+ "issn": "1873-5126",
+ "date": "2026-06-18",
+ "abstract": "Spinocerebellar ataxia type 10 (SCA10) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and, frequently, seizures. While it is linked to Native American and East Asian ancestry, no cases have previously been reported in Guatemala.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41229449"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42320256"
},
{
"id": "pmid:40898875",
@@ -27719,58 +28441,30 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42204920"
},
{
- "id": "pmid:42096001",
+ "id": "pmid:42060068",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42096001",
- "title": "Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42060068",
+ "title": "Behavioral and Personality Changes as the First Manifestation of Spinocerebellar Ataxia Type 2.",
"type": "article-journal",
- "doi": "10.1007/s12311-026-02003-4",
+ "doi": "10.1007/s12311-026-02007-0",
"authors": [
- ["Marta", "Matlawska"],
- ["Karolina", "Ziora-Jakutowicz"],
- ["Marie-Josee", "Dicaire"],
- ["Joanna", "Pera"],
- ["David", "Pellerin"],
- ["Bernard", "Brais"],
- ["Pablo", "Iruzubieta"],
- ["Ewelina", "Elert-Dobkowska"],
- ["Anna", "Sulek"]
+ ["Davide", "Vilella"],
+ ["Daniele", "Urso"],
+ ["Agnese", "Valguarnera"],
+ ["Giuseppe", "Volpe"],
+ ["Maria", "Accadia"],
+ ["Chiara", "Zecca"],
+ ["Alessandra", "Vitulli"],
+ ["Roberto", "De Blasi"],
+ ["Alessandro", "Bertolino"],
+ ["Giancarlo", "Logroscino"]
],
"publisher": "Cerebellum (London, England)",
"issn": "1473-4230",
- "date": "2026-05-07",
- "abstract": "Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat expansion in the FGF14 gene, has recently emerged as a major cause of late-onset cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and Eastern Europe remain largely unknown. To determine the frequency and phenotypic characteristics of FGF14 GAA\u00b7TTC repeat expansions, a large cohort of Polish patients with undiagnosed adult-onset cerebellar ataxia was investigated. We retrospectively analyzed 701 patients (age of onset\u2009\u2265\u200925 years) with adult-onset cerebellar ataxia of unknown etiology, previously tested negative for SCA1, SCA2, SCA3, SCA8, and RFC1 expansions. GAA\u00b7TTC repeat lengths were assessed using long-range and repeat-primed PCR. Expansions\u2009\u2265\u2009250 repeats were classified as pathogenic. Clinical and MRI data were evaluated where available. A control group of 66 neurologically healthy individuals was also screened. Pathogenic FGF14 expansions (\u2265\u2009250 repeats) were identified in 4.4% (31/701) of patients, including 23 with fully penetrant (\u2265\u2009300) and 8 with incompletely penetrant (250-299) alleles. No pathogenic expansions were found in controls. The mean age of onset was 49.8 years. Common symptoms included balance and gait disturbances, cerebellar syndrome, and episodic features such as diplopia. Cerebellar atrophy was present in 45% of patients with available MRI. No significant correlation between repeat length and age of onset was observed. Our findings confirm that FGF14 repeat expansions are an underrecognized cause of LOCA in Poland and support their inclusion in standard genetic testing for adult-onset ataxias. Further studies are warranted to better define penetrance and genotype-phenotype correlations.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42096001"
-},
-{
- "id": "pmid:42087256",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42087256",
- "title": "Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1186/s40478-026-02301-2",
- "authors": [
- ["Nikki S", "Harper"],
- ["Joanne L", "Sharpe"],
- ["Jasmine", "Speranza"],
- ["Ravinder", "Gulia"],
- ["Jeffrey X", "Chen"],
- ["Scott P", "Allen"],
- ["Manpreet S", "Atwal"],
- ["Stuart", "Pickering-Brown"],
- ["Matthew R", "Livesey"],
- ["Craig L", "Bennett"],
- ["Andreas", "Prokop"],
- ["Albert R", "La Spada"],
- ["Ryan J H", "West"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2026-05-05",
- "abstract": "Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal, early-onset neurodegenerative diseases. The most common genetic cause of FTD and ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation leads to the production of toxic dipeptide repeat proteins (DPRs), via repeat-associated non-AUG (RAN) translation. These DPRs disrupt stress granule (SG) dynamics, with SG regulators such as Ataxin-2 (ATXN2) implicated in disease risk. The integrated stress response (ISR), a key driver of SG formation via eIF2\u03b1 phosphorylation, has been linked to C9orf72 expansions, but the role of individual DPRs in ISR activation remains unclear. Here, using Drosophila models expressing physiologically relevant repeat length DPRs, we identify poly(GR) as a novel activator of the ISR, inducing early and sustained eIF2\u03b1 phosphorylation and SG accumulation prior to motor decline. Genetic inhibition of the ISR or knockdown of ATX2, the Drosophila orthologue of ATXN2, rescues motor deficits in these models. ATXN2 knockdown also reduces poly(GR) toxicity in mouse primary neurons. These findings position poly(GR) as a key driver of ISR activation and highlight ATXN2 and the ISR as promising therapeutic targets in C9orf72-associated FTD/ALS.",
+ "date": "2026-04-30",
+ "abstract": "Background. Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the ATXN2 gene. Although classically characterized by progressive cerebellar ataxia and oculomotor abnormalities, increasing evidence indicates that SCA2 is a multisystem disorder with prominent cognitive, behavioral, and psychiatric manifestations. These non-motor symptoms may precede overt motor signs, leading to diagnostic challenges and misdiagnosis as primary psychiatric conditions. Case Presentation. We report the case of a 59-year-old man with a several-year history of progressive behavioral and emotional dysregulation, initially diagnosed as a personality disorder. Prominent features included irritability, impulsivity, disinhibition, hypersexuality, altered eating behavior, and recurrent self-endangering suicidal gestures, with relatively preserved functional autonomy. Neurological examination revealed subtle cerebellar signs. Neuropsychological assessment showed impaired verbal memory with preserved recognition and borderline attentional\u2013executive deficits, consistent with cerebello\u2013frontal dysfunction. Brain magnetic resonance imaging (MRI) demonstrated moderate-to-severe cerebellar and brainstem atrophy, while dopamine transporter SPECT revealed severe bilateral presynaptic dopaminergic denervation. Cerebrospinal fluid biomarkers excluded Alzheimer\u2019s disease. Genetic testing confirmed SCA2 with 38 CAG repeats in ATXN2. Conclusions. This case illustrates an atypical presentation of SCA2 in which behavioral and psychiatric symptoms preceded motor manifestations by several years. Recognition of such presentations is crucial to avoid misdiagnosis, reduce diagnostic delay, and enable timely genetic counselling and multidisciplinary management, reinforcing the concept of SCA2 as a multisystem neurodegenerative disorder.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42087256"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42060068"
},
{
"id": "pmid:42019185",
@@ -34812,6 +35506,74 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7762567"
},
+{
+ "id": "pmid:42337487",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42337487",
+ "title": "Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort of spinocerebellar ataxia type 3.",
+ "type": "article-journal",
+ "doi": "10.1186/s12883-026-05101-2",
+ "authors": [
+ ["Ekaterina", "Nadbitova"],
+ ["Nobuyuki", "Takei"],
+ ["Sachiko", "Hirokawa"],
+ ["Yuya", "Hatano"],
+ ["Tomohiko", "Ishihara"],
+ ["Osamu", "Onodera"],
+ ["Yuka Mitsuhashi", "Koike"]
+ ],
+ "publisher": "BMC neurology",
+ "issn": "1471-2377",
+ "date": "2026-06-23",
+ "abstract": "Spinocerebellar ataxia type 3 (SCA3) is caused by CAG repeat expansion in ATXN3, which inversely correlates with age at onset but does not fully account for interindividual variability. A recent study in a mixed European/South and North\u00a0American cohort suggested that the PRKN V380L variant (rs1801582), particularly in C/C homozygotes, was associated with earlier disease onset. We therefore performed a replication analysis to evaluate the frequency and potential clinical relevance of rs1801582 in a Japanese SCA3 cohort.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42337487"
+},
+{
+ "id": "pmid:42251968",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42251968",
+ "title": "The fT3/fT4 ratio as a candidate marker of motor progression in SCA3.",
+ "type": "article-journal",
+ "doi": "10.1016/j.nbd.2026.107474",
+ "authors": [
+ ["Mengyuan", "Dong"],
+ ["Ziyan", "Ding"],
+ ["Zhao", "Chen"],
+ ["Na", "Wan"],
+ ["Linliu", "Peng"],
+ ["Qinlin", "Huang"],
+ ["Jian", "Hu"],
+ ["Ziting", "Cui"],
+ ["Rongfan", "Peng"],
+ ["Daren", "Zeng"],
+ ["Ying", "Zou"],
+ ["Yiqing", "Gong"],
+ ["Yan", "Tan"],
+ ["Daji", "Chen"],
+ ["Qian", "Jiang"],
+ ["Jiawei", "He"],
+ ["Zhuan", "Pei"],
+ ["Siyu", "Ding"],
+ ["Xiaokai", "Shen"],
+ ["Qi", "Wu"],
+ ["Qi", "Deng"],
+ ["Hongyu", "Yuan"],
+ ["Chunrong", "Wang"],
+ ["Linlin", "Wan"],
+ ["Lang", "He"],
+ ["Huirong", "Peng"],
+ ["Yuting", "Shi"],
+ ["Rong", "Qiu"],
+ ["Hong", "Jiang"]
+ ],
+ "publisher": "Neurobiology of disease",
+ "issn": "1095-953X",
+ "date": "2026-06-06",
+ "abstract": "Motor severity and progression in spinocerebellar ataxia type 3 (SCA3) vary across individuals, yet physiological factors contributing to this heterogeneity remain incompletely understood. Thyroid hormones are central regulators of systemic metabolism and are associated with motor function and frailty in physiological conditions and neurodegenerative diseases, but their relevance to SCA3 is unclear.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42251968"
+},
{
"id": "pmid:42191105",
"manubot_success": true,
@@ -35053,29 +35815,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41613623"
},
-{
- "id": "pmid:41612618",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41612618",
- "title": "Non-Huntington's disease chorea: an expanding universe with acquired causes.",
- "type": "article-journal",
- "doi": "10.1093/brain/awag038",
- "authors": [
- ["Francisco", "Cardoso"],
- ["D\u00e9bora", "Maia"],
- ["Ricardo", "Maciel"],
- ["Jonathan", "Carr"],
- ["Taku", "Hatano"],
- ["Alexandra", "Durr"],
- ["Werner", "Poewe"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2026-01-30",
- "abstract": "Huntington disease (HD) phenocopies are conditions characterized by a phenotype similar to HD but without a pathogenic repeat expansion in the HTT gene. The percentage of patients who have an HD phenotype but subsequently are shown not to carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and the geographic location of the population studied, as well as the resources available for investigation of the underlying causes. In descending order of frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been established that a growing list of acquired causes may also mimic HD, including autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology, clinical and laboratory findings of the wide range of conditions associated with HD phenocopies, and proceed to suggest a practical diagnostic approach to the investigation of HD phenocopies taking into account the age at onset, ethnicity, and geographic location of individuals.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41612618"
-},
{
"id": "pmid:41058593",
"manubot_success": true,
@@ -37445,31 +38184,9 @@
},
{
"id": "pmid:29444500",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29444500",
- "title": "Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3.",
- "type": "article-journal",
- "doi": "10.1016/j.scr.2018.01.027",
- "authors": [
- ["Yanlin", "Wang"],
- ["Changhe", "Shi"],
- ["Zhilei", "Wang"],
- ["Huifang", "Sun"],
- ["Zhihua", "Yang"],
- ["Fan", "Zhang"],
- ["Yutao", "Liu"],
- ["Han", "Liu"],
- ["Chenyang", "Jiang"],
- ["Shoutao", "Zhang"],
- ["Yuming", "Xu"],
- ["Xuejun", "Wen"]
- ],
- "publisher": "Stem cell research",
- "issn": "1876-7753",
- "date": "2018-01-31",
- "abstract": "Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29444500"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/29444500",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29444500']' timed out after 3 seconds"
},
{
"id": "pmid:28854700",
@@ -40513,6 +41230,60 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7633439"
},
+{
+ "id": "pmid:42340810",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42340810",
+ "title": "Discovery of a mutation-containing circRNA in polyglutamine disease through systematic analysis of RNAs with CAG repeats.",
+ "type": "article-journal",
+ "doi": "10.1080/15476286.2026.2684791",
+ "authors": [
+ ["Weronika", "Pawlik"],
+ ["Magdalena", "Wo\u017ana-Wysocka"],
+ ["Magdalena", "Jazurek-Ciesio\u0142ka"],
+ ["Jaros\u0142aw", "Dulski"],
+ ["Tomasz M", "Witko\u015b"],
+ ["Agata", "Cio\u0142ak"],
+ ["Emilia", "Koz\u0142owska"],
+ ["Edyta", "Ko\u015bcia\u0144ska"],
+ ["Luke C", "Bartelt"],
+ ["Julien", "Philippe"],
+ ["Jaros\u0142aw", "S\u0142awek"],
+ ["Pawe\u0142 M", "\u015awito\u0144ski"],
+ ["Albert R", "La Spada"],
+ ["Agnieszka", "Fiszer"]
+ ],
+ "publisher": "RNA biology",
+ "issn": "1555-8584",
+ "date": "2026-06-24",
+ "abstract": "CAG repeat tracts occur in both non-coding and translated RNAs, have tended to lengthen throughout evolution, and are thought to enhance neuronal function. We identified over 600\u00a0human RNAs (including mRNAs, lncRNAs, and circRNAs) with at least 10 CAG repeats, originating from 58 genomic",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42340810"
+},
+{
+ "id": "pmid:42264098",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42264098",
+ "title": "Loss of astrocytic markers and impaired metabolic function in spinocerebellar ataxia type 7 patient-derived neural cultures.",
+ "type": "article-journal",
+ "doi": "10.1016/j.nbd.2026.107477",
+ "authors": [
+ ["Linde F", "Bouwman"],
+ ["Ronald A M", "Buijsen"],
+ ["Linda M", "van der Graaf"],
+ ["Barry A", "Pepers"],
+ ["Bas J B", "Voesenek"],
+ ["Hailiang", "Mei"],
+ ["Bart P C", "van de Warrenburg"],
+ ["Willeke M C", "van Roon-Mom"]
+ ],
+ "publisher": "Neurobiology of disease",
+ "issn": "1095-953X",
+ "date": "2026-06-09",
+ "abstract": "Spinocerebellar ataxia type 7 (SCA7) is a rare neurodegenerative disorder caused by a CAG repeat expansion in the ATXN7 gene. This repeat expansion results in an abnormally long polyglutamine (PolyQ) tract in the Ataxin-7 protein. This ultimately leads to the degeneration of most notably Purkinje cells and retinal cells. Because no treatment exist that can halt or slow disease progression, there is a critical need for patient-specific disease models to uncover new pathogenic mechanisms and enable therapeutic testing. In this study, induced human pluripotent stem cells (hiPSCs) derived from healthy controls and individuals with SCA7 were differentiated into a mixed neural cell population consisting of neurons and astrocytes. Although control and SCA7 neurons appeared morphologically similar, SCA7-derived astrocytes exhibited a pronounced loss of the astrocyte-specific markers GFAP and S100B. Transcriptome analysis revealed substantial alterations in genes related to glial differentiation, cellular metabolism and oxygen handling, protein homeostasis, and neuronal differentiation and neuronal signalling. Mitochondrial stress assays further confirmed a mitochondrial phenotype in SCA7 neural cells. Together, these findings demonstrate that hiPSC-derived neural cells provide a robust platform that can be used for studying disease mechanisms and testing potential therapies for SCA7.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42264098"
+},
{
"id": "pmid:39649105",
"manubot_success": true,
@@ -42289,6 +43060,52 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9288099"
},
+{
+ "id": "pmid:42371259",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42371259",
+ "title": "Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02041-y",
+ "authors": [
+ ["Ronak", "Rashedi"],
+ ["Franca", "Peem\u00f6ller"],
+ ["Hannes", "Erdmann"],
+ ["Mathias", "Gelderblom"],
+ ["Ute", "Hidding"],
+ ["Christos", "Ganos"],
+ ["Robert", "Chen"],
+ ["Angela", "Abicht"],
+ ["Simone", "Zittel"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-06-29",
+ "abstract": "Spinocerebellar ataxia type 27B is a recently described autosomal dominant, late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent adult-onset ataxia, its full clinical spectrum remains incompletely understood.\u00a0To characterize the neurological, cognitive, and paraclinical phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand the currently known motor and non-motor features, as well as to assess the co-occurrence of other repeat expansions.\u00a0In this cross-sectional single-center study, patients with heterozygous FGF14 repeat expansions underwent standardized neurological examination and cognitive screening. Paraclinical data were reviewed when available.\u00a018 patients were included in the study (mean age at onset: 64 [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most commonly a lateral veering gait with corrective sidesteps. In addition to the core known cerebellar phenotype, we identified other movement-disorder manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with nigrostriatal degeneration confirmed in one patient. Cognitive impairment was common, with two-thirds of patients fulfilling criteria for cerebellar cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]). Worse CCAS and MoCA performance was associated with increasing ataxia severity. FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three patients. Earlier diagnostic misclassification as transient ischemic attack was reported in 33%. These findings expand the known phenotype of spinocerebellar ataxia type 27B, emphasizing it as a multisystem movement disorder.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42371259"
+},
+{
+ "id": "pmid:42105044",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42105044",
+ "title": "Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-026-02019-w",
+ "authors": [
+ ["Yongkang", "Fang"],
+ ["Yuanbing", "Lu"],
+ ["Suiqiang", "Zhu"],
+ ["Weiwei", "Chen"],
+ ["Shanshan", "Huang"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2026-05-09",
+ "abstract": "Spinal Cerebellar Ataxia Type 8 (SCA8) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar dysfunction. It is caused by pathogenic expansions of a CTG/CAG trinucleotide repeat sequence within the ATXN8OS/ATXN8 gene locus on chromosome 13q21. Although cerebellar atrophy is widely recognized as a cardinal neuroimaging feature of SCA8, the phenotypic spectrum remains incompletely characterized. This study identified two cases of SCA8 through genetic analysis. Pedigree information was gathered and analyzed for all available family members. A systematic literature review was conducted to identify all published SCA8 cases with available neuroimaging data. The distinctive clinical and radiological features of SCA8 were analyzed through detailed case characterization integrated with a comprehensive review of existing literature. We report two genetically confirmed SCA8 cases exhibiting a previously undescribed neuroimaging phenotype. Case 1: A 36-year-old woman presented with a one-year history of progressive gait ataxia. Brain MRI revealed confluent, symmetric white matter signal abnormalities without cerebellar atrophy. Repeat expansion analysis detected a pathogenic CTG/CAG expansion of 9/77 in the ATXN8 gene. Case 2: A 64-year-old man (father of case 1) exhibited significant gait abnormalities, cognitive impairment and dysarthria. Brain MRI showed symmetric white matter lesions similar to case 1, with a CTG/CAG repeat length of 17/73. Notably, our systematic review revealed no prior reports of SCA8 presenting with isolated, symmetric white matter abnormalities in the absence of cerebellar atrophy. These findings delineate a novel neuroimaging phenotype of SCA8, characterized by symmetric white matter alterations without cerebellar volume loss. This atypical presentation expands the radiological spectrum of SCA8 and underscores the importance of considering repeat expansion disorders in the differential diagnosis of leukoencephalopathies, even in the absence of classic neurodegenerative imaging signatures.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42105044"
+},
{
"id": "pmid:42094143",
"manubot_success": true,
@@ -42458,6 +43275,88 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40765612"
},
+{
+ "id": "pmid:36703300",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36703300",
+ "title": "Neuropathology of spinocerebellar ataxia type 8: Common features and unique tauopathy.",
+ "type": "article-journal",
+ "doi": "10.1111/neup.12894",
+ "authors": [
+ ["Yuki", "Yonenobu"],
+ ["Goichi", "Beck"],
+ ["Kansuke", "Kido"],
+ ["Norihisa", "Maeda"],
+ ["Rika", "Yamashita"],
+ ["Kimiko", "Inoue"],
+ ["Yuko", "Saito"],
+ ["Masato", "Hasegawa"],
+ ["Hidefumi", "Ito"],
+ ["Kazuko", "Hasegawa"],
+ ["Eiichi", "Morii"],
+ ["Toru", "Iwaki"],
+ ["Shigeo", "Murayama"],
+ ["Hideki", "Mochizuki"]
+ ],
+ "publisher": "Neuropathology : official journal of the Japanese Society of Neuropathology",
+ "issn": "1440-1789",
+ "date": "2023-01-26",
+ "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ATXN8OS]). However, the pathological significance of this expansion remains unclear. Moreover, abnormal CTA/CTG repeat expansions in ATXN8OS have also been reported in other neurodegenerative diseases, including progressive supranuclear palsy. In this study, we analyzed all available autopsy cases in Japan to investigate common pathological features and profiles of tau pathology in each case. Severe neuronal loss in the substantia nigra and prominent loss of Purkinje cells, atrophy of the molecular layer, and proliferation of Bergmann glia in the cerebellum were common features. Regarding tauopathy, one case presented with progressive supranuclear palsy-like 4-repeat tauopathy in addition to mild Alzheimer-type 3- and 4-repeat tauopathy. Another case showed 3- and 4-repeat tauopathy accentuated in the brainstem. The other two cases lacked tauopathy after extensive immunohistochemical studies. The present study confirmed common pathological features of SCA8 as degeneration of the substantia nigra in addition to the cerebellum. Our study also confirmed unique tauopathy in two of four cases, indicating the necessity to further collect autopsy cases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36703300"
+},
+{
+ "id": "pmid:33526774",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33526774",
+ "title": "Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.",
+ "type": "article-journal",
+ "doi": "10.1038/s41398-021-01211-2",
+ "authors": [
+ ["Bahareh A", "Mojarad"],
+ ["Yue", "Yin"],
+ ["Roozbeh", "Manshaei"],
+ ["Ian", "Backstrom"],
+ ["Gregory", "Costain"],
+ ["Tracy", "Heung"],
+ ["Daniele", "Merico"],
+ ["Christian R", "Marshall"],
+ ["Anne S", "Bassett"],
+ ["Ryan K C", "Yuen"]
+ ],
+ "publisher": "Translational psychiatry",
+ "issn": "2158-3188",
+ "date": "2021-02-01",
+ "abstract": "The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults with schizophrenia from a well-characterized community-based cohort previously examined with chromosomal microarray for CNVs (none with 22q11.2 deletions). We analyzed these genomes for rare high-impact variants considered causal for neurodevelopmental disorders, including single-nucleotide variants (SNVs) and small insertions/deletions (indels), for potential clinical relevance based on findings for neurodevelopmental disorders. Also, we investigated a novel variant type, tandem repeat expansions (TREs), in 45 loci known to be associated with monogenic neurological diseases. We found several of these variants in this schizophrenia population suggesting that these variants have a wider clinical spectrum than previously thought. In addition to known pathogenic CNVs, we identified 11 (4.3%) individuals with clinically relevant SNVs/indels in genes converging on schizophrenia-relevant pathways. Clinical yield was significantly enriched in females and in those with broadly defined learning/intellectual disabilities. Genome analyses also identified variants with potential clinical implications, including TREs (one in DMPK; two in ATXN8OS) and ultra-rare loss-of-function SNVs in ZMYM2 (a novel candidate gene for schizophrenia). Of the 233 individuals with no pathogenic CNVs, we identified rare high-impact variants (i.e., clinically relevant or with potential clinical implications) for 14 individuals (6.0%); some had multiple rare high-impact variants. Mean schizophrenia polygenic risk score was similar between individuals with and without clinically relevant rare genetic variation; common variants were not sufficient for clinical application. These findings broaden the individual and global picture of clinically relevant genetic risk in schizophrenia, and suggest the potential translational value of genome sequencing as a single genetic technology for schizophrenia.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33526774"
+},
+{
+ "id": "pmid:31471687",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/31471687",
+ "title": "Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-019-09519-2",
+ "authors": [
+ ["Yao", "Zhou"],
+ ["Yanchun", "Yuan"],
+ ["Zhen", "Liu"],
+ ["Sheng", "Zeng"],
+ ["Zhao", "Chen"],
+ ["Lu", "Shen"],
+ ["Hong", "Jiang"],
+ ["Kun", "Xia"],
+ ["Beisha", "Tang"],
+ ["Junling", "Wang"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2019-08-30",
+ "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31471687"
+},
{
"id": "pmid:30109267",
"manubot_success": true,
@@ -43412,36 +44311,160 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23607545"
},
{
- "id": "pmid:42222887",
+ "id": "pmid:42367691",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42222887",
- "title": "Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42367691",
+ "title": "Chronic Inflammatory Demyelinating Polyradiculoneuropathy-Like Neuropathy in Heterozygous",
"type": "article-journal",
- "doi": "10.1172/jci191508",
+ "doi": "10.1159/000552143",
"authors": [
- ["Sebastian", "Michels"],
- ["Chaorong", "Chen"],
- ["Wolfgang P", "Ruf"],
- ["M Madhy", "Garcia Garcia"],
- ["Frederick J", "Arnold"],
- ["Zhuoxing", "Wu"],
- ["Craig L", "Bennett"],
- ["Daniel", "Shams"],
- ["Leslie M", "Thompson"],
- ["Alyssa C", "Walker"],
- ["Dennis W", "Dickson"],
- ["Leonard", "Petrucelli"],
+ ["Valentin", "Loser"],
+ ["Vadim", "Afanasiev"],
+ ["Alex", "Vicino"],
+ ["Marie", "Th\u00e9audin"]
+ ],
+ "publisher": "Case reports in neurology",
+ "issn": "1662-680X",
+ "date": "2026-04-28",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42367691"
+},
+{
+ "id": "pmid:42331066",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42331066",
+ "title": "Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from iNPH patients show changes in energy metabolism but no cell pathologies.",
+ "type": "article-journal",
+ "doi": "10.1016/j.bbamcr.2026.120177",
+ "authors": [
+ ["Dorit", "Hoffmann"],
+ ["Ville", "Korhonen"],
+ ["Hannah", "Rostalski"],
+ ["Nadine", "Huber"],
+ ["Sami", "Heikkinen"],
+ ["Tomi", "Hietanen"],
+ ["Rebekka", "Wittrahm"],
+ ["Stina", "Leskel\u00e4"],
+ ["P\u00e4ivi", "Hartikainen"],
+ ["Tuomas", "Rauramaa"],
+ ["Eino", "Solje"],
+ ["Anne M", "Portaankorva"],
+ ["Mikko", "Hiltunen"],
+ ["Ville", "Leinonen"],
+ ["Annakaisa", "Haapasalo"]
+ ],
+ "publisher": "Biochimica et biophysica acta. Molecular cell research",
+ "issn": "1879-2596",
+ "date": "2026-06-22",
+ "abstract": "Long C9orf72 hexanucleotide repeat expansions (C9-HRE) are the most common genetic cause of frontotemporal dementia (FTD), a group of neurodegenerative syndromes leading to cognitive dysfunction and frontal and temporal atrophy. FTD is a potential comorbidity of idiopathic normal pressure hydrocephalus (iNPH) and carrying the C9-HRE can modify the age-of-onset in iNPH patients. While intermediate-length C9-HRE (<30 repeats) are often considered non-pathogenic, the exact pathological cutoff is unclear. In this study, we assessed whether skin fibroblasts from iNPH patients carrying intermediate C9-HRE display C9-HRE-associated pathological hallmarks and changes in cellular function. C9-HRE-associated RNA foci, present in the long (>60 repeats) C9-HRE carrier fibroblasts, were not detected in those of the intermediate carriers. The number of p62-positive puncta was significantly increased in long but not intermediate C9-HRE carrier fibroblasts, in line with p62-positive intracellular inclusions observed in a brain biopsy from the patient. Induction of autophagy did not suggest any defects in the intermediate carrier fibroblasts. Fibroblasts from the intermediate C9-HRE carriers showed upregulated glycolytic activity, possibly to counteract the slightly reduced mitochondrial respiration. This could not be observed in the long C9-HRE carrier fibroblasts. In conclusion, these data suggest that while the long C9-HRE leads to more severe cellular pathologies than intermediate C9-HRE, the latter might predispose cells to deficits in specific cellular functions, such as energy metabolism.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42331066"
+},
+{
+ "id": "pmid:42316301",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42316301",
+ "title": "Intrathecal (G",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-026-02341-8",
+ "authors": [
+ ["Katelyn A", "Russell"],
+ ["Amelia A", "Shahrabi"],
+ ["Suleyman C", "Akerman"],
+ ["Matthew D", "Byrne"],
+ ["Jeffrey D", "Rothstein"],
+ ["Davide", "Trotti"],
+ ["Brigid K", "Jensen"],
+ ["Aaron R", "Haeusler"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2026-06-18",
+ "abstract": "A repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet existing mouse models incompletely engage spinal regions implicated in disease. Here, an adeno-associated virus encoding (G",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42316301"
+},
+{
+ "id": "pmid:42314891",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42314891",
+ "title": "Folding pathways and force-induced unfolding of neurodegeneration associated GGGGCC microsatellite repeat RNA revealed by molecular simulations.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ijbiomac.2026.153101",
+ "authors": [
+ ["Priyanka", "Yadav"],
+ ["Indranil", "Malik"],
+ ["Himanshu", "Joshi"]
+ ],
+ "publisher": "International journal of biological macromolecules",
+ "issn": "1879-0003",
+ "date": "2026-06-18",
+ "abstract": "An intronic G4C2 hexanucleotide repeat expansion in the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). G4C2 RNA itself directly contributes to disease mechanisms and has emerged as a potential target for small molecules, anti-sense oligonucleotides (ASOs), and CRISPR-based therapeutics. Hence, understanding the folding/unfolding and structural polymorphism is essential for G4C2 RNA-targeting therapies. Here, using equilibrium all-atom molecular dynamics (MD) simulations, we explored potential intermediate metastable conformations of the G4C2 RNA repeats and investigated the effect of repeat length on folding. G4C2 RNA undergoes an ensemble of intermediate metastable states resembling hairpin, knot, and a G-quadruplex (GQ) like structures. Enhanced torsional flexibility and conformational heterogeneity were observed with increasing repeat length. Next, using a crystallized G4C2 RNA structure in GQ conformation, we performed equilibrium MD simulations to reveal its thermodynamic stability. Steered molecular dynamics (SMD) simulations with a reduced model of G4C2 GQ uncover two distinct unfolding mechanisms along the chosen reaction coordinates: strand slippage and unzipping. Overall, our findings provide molecular-level insights into the folding and force-induced unfolding dynamics of G4C2 repeat RNA GQ and set a platform for future studies on small-molecule targeting of ALS/FTD-associated G4C2 RNA.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42314891"
+},
+{
+ "id": "pmid:42302493",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42302493",
+ "title": "Orbitofrontal atrophy on MRI appears to be an indicator of C9orf72 repeat expansion status in FTD.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neurad.2026.101575",
+ "authors": [
+ ["Niko", "Yli-Anttila"],
+ ["Eino", "Solje"],
+ ["Kalle", "Aho"],
+ ["Kasper", "Katisko"],
+ ["Ave", "Kivisild"],
+ ["Helmi", "Soppela"],
+ ["Johanna", "Kr\u00fcger"],
+ ["P\u00e4ivi", "Hartikainen"],
+ ["Jyrki", "L\u00f6tj\u00f6nen"],
+ ["Juhana", "Hakum\u00e4ki"]
+ ],
+ "publisher": "Journal of neuroradiology = Journal de neuroradiologie",
+ "issn": "0150-9861",
+ "date": "2026-06-16",
+ "abstract": "Frontotemporal dementia (FTD) is an important group of neurodegenerative diseases causing early onset dementia. While FTD is mostly sporadic, a common cause of genetic FTD is the C9orf72 hexanucleotide repeat expansion (C9exp). To date, no imaging biomarkers have been identified for differentiating between sporadic and hereditary cases. In this study, we focused on MRI-based neuroanatomical comparisons between FTD subtypes bvFTD and nfvPPA, as well as the C9exp status, to identify potential imaging biomarkers. Fifty-six patients with FTD (43 bvFTD and 13 nfvPPA) underwent clinical evaluation and magnetic resonance imaging (MRI) at 1,5T and 3,0T The genetically analysed subgroup consisted of 13 C9exp -positive and 22 C9exp -negative cases. cNeuro\u00ae cMRI software was used for comprehensive voxel-based morphometry (VBM) analyses of the MRI images for multiple brain regions, structures and their volumes. Our results show that orbitofrontal volumes, particularly of the right anterior and posterior orbital gyri, demonstrate high sensitivity (90,9-100%) and specificity (76,9%) in differentiating C9exp cases from sporadic FTD. Furthermore, we elucidated and corroborated several statistically significant volumetric differences in multiple brain regions between the FTD subtypes of bvFTD and nfvPPA, such as asymmetrical, right-sided atrophy in the former. This is the first demonstration that C9exp-positive FTD cases can be reliably differentiated from sporadic cases based solely on MRI atrophy patterns. Furthermore, we corroborate several diagnostically significant volumetric differences in brain regions between bvFTD and nfvPPA variants, providing evidence that advanced brain morphometry techniques constitute a valuable tool for identifying even more FTD subtypes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42302493"
+},
+{
+ "id": "pmid:42296226",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42296226",
+ "title": "Innate immune signaling as a potential pathomechanistic biomarker for distinct subtypes in amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1080/21678421.2026.2663910",
+ "authors": [
+ ["Marcel", "Naumann"],
+ ["Stefanie", "Kretschmer"],
["Johannes", "Dorst"],
- ["Mercedes", "Prudencio"],
- ["Wei", "Li"],
- ["Albert R", "La Spada"]
+ ["Hanna", "Lapp"],
+ ["Kevin", "Peikert"],
+ ["Susanne", "Petri"],
+ ["Burkhard", "Gess"],
+ ["Christine", "Wolf"],
+ ["Annekathrin", "R\u00f6diger"],
+ ["Uta", "Smesny"],
+ ["Francisco", "Pan-Montojo"],
+ ["Philippe", "Kerschen"],
+ ["Torsten", "Grehl"],
+ ["Johannes", "Prudlo"],
+ ["Martin", "Regensburger"],
+ ["Albert", "Ludolph"],
+ ["Ren\u00e9", "G\u00fcnther"],
+ ["David", "Brenner"],
+ ["Min Ae", "Lee-Kirsch"],
+ ["Andreas", "Hermann"]
],
- "publisher": "The Journal of clinical investigation",
- "issn": "1558-8238",
- "date": "2026-06-01",
- "abstract": "The role of the epigenome in age-related neurodegenerative disorders remains understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis (ALS). Our study included 20 patients with sporadic ALS, 10 patients with C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion mutation, and 21 nondisease control individuals. Following targeted enzymatic methyl-sequencing (EM-seq) of approximately 4 million CpG sites, we detected numerous differentially methylated genes, including several implicated in ALS disease risk and pathogenesis. By integrating multiple epigenetic features, we delineated a distinct epigenetic signature, which achieved an average area under the curve (AUC) of 0.91 \u00b1 0.10 upon receiver operator characteristic (ROC) analysis, which enabled detection of approximately 70% of patients with ALS with close to 100% specificity. Furthermore, we also identified a set of genes whose methylation status significantly correlated with clinical disease progression and cerebrospinal fluid (CSF) neurofilament levels. Our results reveal the potential of cfDNA-based biomarkers to accurately diagnose ALS and potentially predict disease progression.",
+ "publisher": "Amyotrophic lateral sclerosis & frontotemporal degeneration",
+ "issn": "2167-9223",
+ "date": "2026-06-15",
+ "abstract": "Stimulation of the innate immune system has been implicated in ALS and particularly in distinct monogenic forms of ALS. To address whether this is of diagnostic value, we performed a proof-of concept study using qPCR to assess the Interferon score in blood samples of genetic ALS. 56.5% of genetic ALS patients showed significant IFN activation, highest in C9orf72HRE patients (77.3%). About half of FUS-ALS (52.2%), but none of SOD1-ALS patients demonstrated pathological IFN scores. The IFN score significantly correlated with the ALSFRS-R slope and inversely with the time to severe event as a survival surrogate in this genetic ALS cohort. IFN\u2009+\u2009patients were more likely to be male, showed more rapid disease progression and higher neurofilament levels. The IFN score might have the potential as a stratification and readout tool for biomarker-guided individualized therapy in ALS.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42222887"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42296226"
},
{
"id": "pmid:42221822",
@@ -43487,58 +44510,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42211284"
},
-{
- "id": "pmid:42160515",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42160515",
- "title": "Immunotherapeutic landscape of amyotrophic lateral sclerosis: A bibliometric analysis of research trends, translational priorities, and collaboration networks (2006-2025).",
- "type": "article-journal",
- "doi": "10.1080/21645515.2026.2664985",
- "authors": [
- ["Ming", "Zhang"],
- ["Wenshuo", "Yang"],
- ["Junxin", "Wang"],
- ["Biqi", "Zou"],
- ["Jialin C", "Zheng"],
- ["Qihui", "Wu"],
- ["Ge", "Gao"]
- ],
- "publisher": "Human vaccines & immunotherapeutics",
- "issn": "2164-554X",
- "date": "2026-05-20",
- "abstract": "Amyotrophic lateral sclerosis (ALS) remains a major therapeutic challenge, with immune dysregulation increasingly recognized as a critical driver of disease progression. Despite extensive mechanistic research, no immunotherapeutic approach has achieved consistent disease-modifying effects, raising questions about whether this translational gap reflects biological complexity or structural misalignment within the research ecosystem. To characterize the intellectual evolution of ALS immunotherapeutics research, identify immune targets with translational potential, and evaluate collaboration patterns that may influence translational efficiency, we performed a bibliometric analysis of 2,256 publications indexed in Web of Science and Scopus using network-based approaches including co-citation clustering, keyword co-occurrence, and citation burst detection implemented in CiteSpace, VOSviewer, and R-Bibliometrix. Publication output increased 8.4-fold over the study period, delineating three developmental phases. Thematic analyses revealed a shift from early emphasis on microglial biology and SOD1-based models toward recent focus areas including the gut-brain axis, C9orf72-associated immune dysregulation, and advanced immunomodulatory strategies. Collaboration networks remain predominantly regional despite strong contributions from the United States, Europe, and Asia, with limited integration between mechanistic research groups and clinical trial consortia. Among immune-directed therapeutic strategies, regulatory T cell modulation and microglial-targeted approaches exhibit the highest translational readiness. These findings suggest that the lack of effective ALS immunotherapeutics reflects not only biological complexity but also structural and strategic misalignment within the research ecosystem. This bibliometric analysis provides a systems-level framework to guide more integrated translational strategies in ALS immunotherapeutics development.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42160515"
-},
-{
- "id": "pmid:42158267",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42158267",
- "title": "Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200382",
- "authors": [
- ["Joan", "Groeneveld"],
- ["Sterre C M", "de Boer"],
- ["Welmoed", "Krudop"],
- ["Georgii", "Ozhegov"],
- ["Marc", "Hulsman"],
- ["Annemieke", "Dols"],
- ["Cora J", "Kerssens"],
- ["Sigfried", "Schouws"],
- ["Frederik", "Barkhof"],
- ["Henne", "Holstege"],
- ["Yolande A L", "Pijnenburg"],
- ["Sven J", "Van Der Lee"],
- ["Flora H", "Duits"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2026-05-14",
- "abstract": "The diagnosis of behavioral variant frontotemporal dementia is often difficult because behavioral change has a broad differential diagnosis. Genetic testing may aid in the diagnostic process. We investigated the prevalence of pathogenic genetic variants (PGVs) in individuals referred to our memory clinic with late-onset behavioral change and identified clinical \"red flags\" for PGV carriership, specifically in diagnostically ambiguous cases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42158267"
-},
{
"id": "pmid:42147445",
"manubot_success": true,
@@ -43572,116 +44543,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42147445"
},
-{
- "id": "pmid:42145639",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42145639",
- "title": "The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.",
- "type": "article-journal",
- "doi": "10.64898/2026.04.29.26350889",
- "authors": [
- ["Jack", "Humphrey"],
- ["Ali", "Oku"],
- ["Marta", "Byrska-Bishop"],
- ["Anna O", "Basile"],
- ["Uday S", "Evani"],
- ["Andr\u00e9", "Corvelo"],
- ["Alex", "Tokolyi"],
- ["Kailash", "Bp"],
- ["Aline", "R\u00e9al"],
- ["Yebin", "Kim"],
- ["Marielle L", "Bond"],
- ["Wayne E", "Clarke"],
- ["Rui", "Fu"],
- ["Heather", "Geiger"],
- ["Sei", "Chang"],
- ["Tatsuhiko", "Naito"],
- ["Beomjin", "Jang"],
- ["Rajeeva", "Musunuri"],
- ["Winston H", "Dredge"],
- ["Rashid", "Al-Abri"],
- ["Benjamin N", "Hoover"],
- ["Dina", "Manaa"],
- ["Jaime", "McClintock"],
- ["Faith P", "Singh"],
- ["Maria H", "Pedersen"],
- ["Alexi", "Runnels"],
- ["Nadia", "Propp"],
- ["Samantha", "Fennessey"],
- ["Hong-Hee", "Won"],
- ["Michael C", "Zody"],
- ["Giuseppe", "Narzisi"],
- ["Nicolas", "Robine"],
- ["Tuuli", "Lappalainen"],
- ["Delphine", "Fagegaltier"],
- ["Gamze", "G\u00fcrsoy"],
- ["David A", "Knowles"],
- ["Towfique", "Raj"],
- ["Matthew B", "Harms"],
- ["Hemali", "Phatnani"]
- ],
- "publisher": "medRxiv : the preprint server for health sciences",
- "issn": "",
- "date": "2026-05-04",
- "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with substantial genetic and clinical heterogeneity that impedes therapeutic development. Large-scale multi-tissue genomic resources have transformed the study of neuropsychiatric and neurodegenerative diseases, but no equivalent resource exists for ALS. Here we present the full NYGC ALS Consortium dataset, combining whole-genome sequencing from 4,746 donors and bulk RNA-seq from 2,574 samples across 8 brain and spinal cord regions from 695 donors across the ALS disease spectrum. Our catalogue of small variants, structural variants, and short tandem repeats identified likely pathogenic mutations in 15.6% of ALS cases. Gene expression and mRNA splicing analysis across 5 major tissues reveals shared and region-specific features, highlighting microglial and T-cell dysregulation in the spinal cord. Mapping the genetic regulation of expression and splicing across tissues identified associations with 6 ALS risk loci, whereas allele-specific rare variant analysis detected expression effects for",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42145639"
-},
-{
- "id": "pmid:42135512",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42135512",
- "title": "Integrated single-cell and spatial transcriptomic profiling in ALS uncovers peripheral-to-central immune infiltration and reprogramming.",
- "type": "article-journal",
- "doi": "10.1038/s41593-026-02300-5",
- "authors": [
- ["Ziyang", "Zhang"],
- ["Lynn", "van Olst"],
- ["Francesco", "Alessandrini"],
- ["Matthew", "Wright"],
- ["Alex J", "Edwards"],
- ["Jake", "Boles"],
- ["Anait", "Nalbandian"],
- ["Anne V", "Forsyth"],
- ["Nate", "Shepard"],
- ["Thomas", "Watson"],
- ["Evan", "Kaspi"],
- ["Angeli", "Mittal"],
- ["Joshua", "Kuruvilla"],
- ["Natalie", "Piehl"],
- ["Abhirami", "Ramakrishnan"],
- ["Stanley", "Appel"],
- ["Evangelos", "Kiskinis"],
- ["David", "Gate"]
- ],
- "publisher": "Nature neuroscience",
- "issn": "1546-1726",
- "date": "2026-05-14",
- "abstract": "Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive motor neuron (MN) degeneration in the brain and spinal cord. Although neuroinflammation is increasingly recognized as a hallmark of ALS, the precise molecular programs linking immune responses to MN pathology remain poorly defined. Using an integrated approach that combines single-cell and bulk RNA sequencing with spatial proteogenomics, we characterized both shared and distinct immune dynamics in peripheral blood and spinal cord tissues from patients with sporadic ALS and those carrying C9orf72 repeat expansions. Our analysis revealed broad immune remodeling in C9orf72 ALS, ALS subtype-specific and progression-associated differences in monocyte activation and antigen-experienced CD8 effector memory T cells with clonal features consistent with antigen-driven responses. Spatial mapping revealed complement activation and lipid-programmed myeloid states converging at sites of MN loss and TDP-43 pathology. Together, these findings connect peripheral and central immune alterations to ALS heterogeneity and highlight stratified immunomodulation as a potential therapeutic strategy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42135512"
-},
-{
- "id": "pmid:42095061",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42095061",
- "title": "Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in",
- "type": "article-journal",
- "doi": "10.3389/fnagi.2026.1792887",
- "authors": [
- ["Zhen", "Hu"],
- ["Jing-Jin", "Wan"],
- ["Qin-Qin", "Yan"],
- ["Yu", "Fan"],
- ["Jun", "Liu"]
- ],
- "publisher": "Frontiers in aging neuroscience",
- "issn": "1663-4365",
- "date": "2026-04-21",
- "abstract": "The",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42095061"
-},
{
"id": "pmid:42033225",
"manubot_success": true,
@@ -44051,30 +44912,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41763422"
},
-{
- "id": "pmid:41760955",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41760955",
- "title": "KIF5A and ALS: a clinical and genetic description of a case series and review of literature.",
- "type": "article-journal",
- "doi": "10.1007/s10072-026-08885-w",
- "authors": [
- ["Anna", "D'Amico"],
- ["Roberta", "Cucunato"],
- ["Giuseppe", "Schir\u00f2"],
- ["Giuseppe", "Salemi"],
- ["Paolo", "Ragonese"],
- ["Vincenzo", "La Bella"],
- ["Paolo", "Aridon"],
- ["Marco", "D'Amelio"]
- ],
- "publisher": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology",
- "issn": "1590-3478",
- "date": "2026-02-28",
- "abstract": "Approximately 10% of ALS (amyotrophic lateral sclerosis) cases show a family history, and the remaining 90% are sporadic. In 2018, through genome sequencing using two independent approaches, KIF5A was described as a novel ALS-associated gene. To describe clinical and genetic characteristics of a series of patients with motor neuron disease (MND), diagnosed at University Hospital of Palermo, carrying KIF5A variants. During 2019\u20132023, two hundred twenty-four patients with MND and healthy subjects with familial history of MND, underwent next-generation sequencing (NGS) for molecular analysis, including genetic testing for C9orf72 hexanucleotide-repeat expansion. The most mutated ALS genes, including KIF5A, were included in a NGS panel. Of the entire tested population, eight patients (including a brother and a sister) were found to carry KIF5A variants. Four patients had familial ALS, the other four were sporadic. Six patients were females (75%). Mean age at ALS onset was 59 years (33\u201375). Patients were evaluated according to the ALSFRS-revisited during follow-up visits. According to disease progression rate, five patients were defined as \u2206FS\u2009\u2264\u20090.5 (slow-progressors), the remaining three patients showed a \u2206FS\u2009>\u20091 (fast-progressors). Of the seven KIF5A variants, three are not already described in literature (respectively c.170\u00a0C\u2009>\u2009T, p.Thr57Met; c.2920T\u2009>\u2009G, p.Ser974Ala and c.2732\u00a0A\u2009>\u2009C, p.Lys911Thr). Two patients showed the association of variations in KIF5A with variations or mutations in other ALS genes, one of them carried a pathogenic variant of FUS (P525L). This study demonstrates phenotypic variability related to mutations in different regions of the same gene resulting in a susceptibility for the disease spectrum with different characteristics.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41760955"
-},
{
"id": "pmid:41757350",
"manubot_success": true,
@@ -48900,37 +49737,9 @@
},
{
"id": "pmid:38606777",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38606777",
- "title": "Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.",
- "type": "article-journal",
- "doi": "10.1093/brain/awae109",
- "authors": [
- ["Suma", "Babu"],
- ["Katharine A", "Nicholson"],
- ["Jeffrey D", "Rothstein"],
- ["Andrea", "Swenson"],
- ["Paul J", "Sampognaro"],
- ["Pravin", "Pant"],
- ["Eric A", "Macklin"],
- ["Susan", "Spruill"],
- ["Sabrina", "Paganoni"],
- ["Tania F", "Gendron"],
- ["Mercedes", "Prudencio"],
- ["Leonard", "Petrucelli"],
- ["Darrell", "Nix"],
- ["Sean", "Landrette"],
- ["Esther", "Nkrumah"],
- ["Keith", "Fandrick"],
- ["Joan", "Edwards"],
- ["Peter R", "Young"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2024-09-03",
- "abstract": "Apilimod dimesylate is a first-in-class phosphoinositide kinase, FYVE-type zinc finger-containing (PIKfyve) inhibitor with a favourable clinical safety profile and has demonstrated activity in preclinical C9orf72 and TDP-43 amyotrophic lateral sclerosis (ALS) models. In this ALS clinical trial, the safety, tolerability, CNS penetrance and modulation of pharmacodynamic target engagement biomarkers were evaluated. This phase 2a, randomized, double-blind, placebo-controlled, biomarker-end-point clinical trial was conducted in four US centres (ClinicalTrials.gov NCT05163886). Participants with C9orf72 repeat expansions were randomly assigned (2:1) to receive twice-daily oral treatment with 125 mg apilimod dimesylate capsules or matching placebo for 12 weeks, followed by a 12-week open-label extension. Safety was measured as the occurrence of treatment-emergent or serious adverse events attributable to the study drug and tolerability at trial completion or treatment over 12 weeks. Changes from baseline in plasma and CSF and concentrations of apilimod dimesylate and its active metabolites and of pharmacodynamic biomarkers of PIKfyve inhibition [soluble glycoprotein nonmetastatic melanoma protein B (sGPNMB) upregulation] and disease-specific CNS target engagement [poly(GP)] were measured. Between 16 December 2021 and 7 July 2022, 15 eligible participants were enrolled. There were no drug-related serious adverse events reported in the trial. Fourteen (93%) participants completed the double-blind period with 99% dose compliance [n = 9 (90%) apilimod dimesylate; n = 5 (100%) placebo]. At Week 12, apilimod dimesylate was measurable in CSF at 1.63 ng/ml [standard deviation (SD): 0.937]. At Week 12, apilimod dimesylate increased plasma sGPNMB by >2.5-fold (P < 0.001), indicating PIKfyve inhibition, and lowered CSF poly(GP) protein levels by 73% (P < 0.001), indicating CNS tissue-level proof of mechanism. Apilimod dimesylate met prespecified key safety and biomarker end-points in this phase 2a trial and demonstrated CNS penetrance and pharmacodynamic target engagement. Apilimod dimesylate was observed to result in the greatest reduction in CSF poly(GP) levels observed to date in C9orf72 clinical trials.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38606777"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/38606777",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:38606777']' timed out after 3 seconds"
},
{
"id": "pmid:38585915",
@@ -60483,6 +61292,35 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30090657"
},
+{
+ "id": "pmid:30075745",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30075745",
+ "title": "Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-018-0579-0",
+ "authors": [
+ ["Petra", "Frick"],
+ ["Chantal", "Sellier"],
+ ["Ian R A", "Mackenzie"],
+ ["Chieh-Yu", "Cheng"],
+ ["Julie", "Tahraoui-Bories"],
+ ["Cecile", "Martinat"],
+ ["R Jeroen", "Pasterkamp"],
+ ["Johannes", "Prudlo"],
+ ["Dieter", "Edbauer"],
+ ["Mustapha", "Oulad-Abdelghani"],
+ ["Regina", "Feederle"],
+ ["Nicolas", "Charlet-Berguerand"],
+ ["Manuela", "Neumann"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2018-08-03",
+ "abstract": "Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. Haploinsufficiency has been proposed as one potential mechanism. However, insights if and how reduced C9orf72 proteins levels might contribute to disease pathogenesis are still limited because C9orf72 expression, localization and functions in the central nervous system (CNS) are uncertain, in part due to the poor specificity of currently available C9orf72 antibodies.Here, we generated and characterized novel knock-out validated monoclonal rat and mouse antibodies against C9orf72. We found that C9orf72 is a low abundant, cytoplasmic, highly soluble protein with the long 481 amino acid isoform being the predominant, if not exclusively, expressed protein isoform in mouse tissues and human brain. As consequence of the C9orf72 repeat expansion, C9orf72 protein levels in the cerebellum were reduced to 80% in our series of C9orf72 mutation carriers (n\u2009=\u200917) compared to controls (n\u2009=\u200926). However, no associations between cerebellar protein levels and clinical phenotypes were seen. Finally, by utilizing complementary immunohistochemical and biochemical approaches including analysis of human iPSC derived motor neurons, we identified C9orf72, in addition to its association to lysosomes, to be localized to the presynapses and able to interact with all members of the RAB3 protein family, suggestive of a role for C9orf72 in regulating synaptic vesicle functions by potentially acting as guanine nucleotide exchange factor for RAB3 proteins.In conclusion, our findings provide further evidence for haploinsufficiency as potential mechanism in C9orf72 pathogenesis by demonstrating reduced protein levels in C9orf72 mutation carriers and important novel insights into the physiological role of C9orf72 in the CNS. Moreover, the described novel monoclonal C9orf72 antibodies will be useful tools to further dissect the cellular and molecular functions of C9orf72.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30075745"
+},
{
"id": "pmid:30023173",
"manubot_success": true,
@@ -68722,35 +69560,9 @@
},
{
"id": "pmid:24387985",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/24387985",
- "title": "Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.",
- "type": "article-journal",
- "doi": "10.1016/j.neurobiolaging.2013.11.033",
- "authors": [
- ["Eun-Joo", "Kim"],
- ["Jay C", "Kwon"],
- ["Kee Hyung", "Park"],
- ["Kyung-Won", "Park"],
- ["Jae-Hong", "Lee"],
- ["Seong Hye", "Choi"],
- ["Jee H", "Jeong"],
- ["Byeong C", "Kim"],
- ["Soo Jin", "Yoon"],
- ["Young Chul", "Yoon"],
- ["Sangyun", "Kim"],
- ["Key-Chung", "Park"],
- ["Byung-Ok", "Choi"],
- ["Duk L", "Na"],
- ["Chang-Seok", "Ki"],
- ["Seung Hyun", "Kim"]
- ],
- "publisher": "Neurobiology of aging",
- "issn": "1558-1497",
- "date": "2013-12-04",
- "abstract": "The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24387985"
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/24387985",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:24387985']' timed out after 3 seconds"
},
{
"id": "pmid:24385136",
@@ -75313,36 +76125,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710966"
},
-{
- "id": "pmid:38483348",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38483348",
- "title": "Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddae034",
- "authors": [
- ["Ranveig S", "Brekke"],
- ["Anny", "Gravdal"],
- ["Khadija", "El Jellas"],
- ["Grace E", "Curry"],
- ["Jianguo", "Lin"],
- ["Steven J", "Wilhelm"],
- ["Solrun J", "Steine"],
- ["Eric", "Mas"],
- ["Stefan", "Johansson"],
- ["Mark E", "Lowe"],
- ["Bente B", "Johansson"],
- ["Xunjun", "Xiao"],
- ["Karianne", "Fjeld"],
- ["Anders", "Molven"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2024-05-18",
- "abstract": "The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9.5%), which always associated with a VNTR length of 13 repeats. The combined INS allele frequency (0.078) was similar to that observed in a control material of 416 subjects (0.075). We performed functional testing in HEK293T cells of a set of CEL-INS variants, in which the insertion site varied from the first to the 12th VNTR repeat. Lipase activity showed little difference among the variants. However, CEL-INS variants with insertions occurring in the most proximal repeats led to protein aggregation and endoplasmic reticulum stress, which upregulated the unfolded protein response. Moreover, by using a CEL-INS-specific antibody, we observed patchy signals in pancreatic tissue from humans without any CEL-INS variant in the germline. Similar pancreatic staining was seen in knock-in mice expressing the most common human CEL VNTR with 16 repeats. CEL-INS proteins may therefore be constantly produced from somatic events in the normal pancreatic parenchyma. This observation along with the high population frequency of CEL-INS alleles strongly suggests that these variants are benign, with a possible exception for insertions in VNTR repeats 1-4.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38483348"
-},
{
"id": "pmid:38473919",
"manubot_success": true,
@@ -75531,35 +76313,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35082198"
},
-{
- "id": "pmid:34850019",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34850019",
- "title": "Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.",
- "type": "article-journal",
- "doi": "10.1210/clinem/dgab864",
- "authors": [
- ["Khadija", "El Jellas"],
- ["Petra", "Du\u0161\u00e1tkov\u00e1"],
- ["Ingfrid S", "Haldorsen"],
- ["Janne", "Molnes"],
- ["Erling", "Tjora"],
- ["Bente B", "Johansson"],
- ["Karianne", "Fjeld"],
- ["Stefan", "Johansson"],
- ["\u0160t\u011bp\u00e1nka", "Pr\u016fhov\u00e1"],
- ["Leif", "Groop"],
- ["J Matthias", "L\u00f6hr"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Anders", "Molven"]
- ],
- "publisher": "The Journal of clinical endocrinology and metabolism",
- "issn": "1945-7197",
- "date": "2022-03-24",
- "abstract": "Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34850019"
-},
{
"id": "pmid:34507899",
"manubot_success": true,
@@ -75612,32 +76365,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34100900"
},
-{
- "id": "pmid:33862081",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33862081",
- "title": "The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.",
- "type": "article-journal",
- "doi": "10.1016/j.jbc.2021.100661",
- "authors": [
- ["Anny", "Gravdal"],
- ["Xunjun", "Xiao"],
- ["Miriam", "Cnop"],
- ["Khadija", "El Jellas"],
- ["Stefan", "Johansson"],
- ["P\u00e5l R", "Nj\u00f8lstad"],
- ["Mark E", "Lowe"],
- ["Bente B", "Johansson"],
- ["Anders", "Molven"],
- ["Karianne", "Fjeld"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2021-04-14",
- "abstract": "Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause maturity-onset diabetes of the young, type 8 (MODY8), an inherited disorder characterized by exocrine pancreatic dysfunction and diabetes. Studies on the DEL1 variant have suggested that MODY8 is initiated by CEL protein misfolding and aggregation. However, it is unclear how the position of single-base deletions within the CEL VNTR affects pathogenic properties of the protein. Here, we investigated four naturally occurring CEL variants, arising from single-base deletions in different VNTR segments (DEL1, DEL4, DEL9, and DEL13). When the four variants were expressed in human embryonic kidney 293 cells, only DEL1 and DEL4 led to significantly reduced secretion, increased intracellular aggregation, and increased endoplasmic reticulum stress compared with normal CEL protein. The level of O-glycosylation was affected in all DEL variants. Moreover, all variants had enzymatic activity comparable with that of normal CEL. We conclude that the longest aberrant protein tails, resulting from single-base deletions in the proximal VNTR segments, have highest pathogenic potential, explaining why DEL1 and DEL4 but not DEL9 and DEL13 have been observed in patients with MODY8. These findings further support the view that CEL mutations cause pancreatic disease through protein misfolding and proteotoxicity, leading to endoplasmic reticulum stress and activation of the unfolded protein response.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33862081"
-},
{
"id": "pmid:27802312",
"manubot_success": true,
@@ -75680,31 +76407,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27802312"
},
-{
- "id": "pmid:27650499",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27650499",
- "title": "A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m116.734384",
- "authors": [
- ["Xunjun", "Xiao"],
- ["Gabrielle", "Jones"],
- ["Wednesday A", "Sevilla"],
- ["Donna B", "Stolz"],
- ["Kelsey E", "Magee"],
- ["Margaret", "Haughney"],
- ["Amitava", "Mukherjee"],
- ["Yan", "Wang"],
- ["Mark E", "Lowe"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2016-09-20",
- "abstract": "Patients with chronic pancreatitis (CP) frequently have genetic risk factors for disease. Many of the identified genes have been connected to trypsinogen activation or trypsin inactivation. The description of CP in patients with mutations in the variable number of tandem repeat (VNTR) domain of carboxyl ester lipase (CEL) presents an opportunity to study the pathogenesis of CP independently of trypsin pathways. We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes CP through proteotoxic gain-of-function activation of maladaptive cell signaling pathways including cell death pathways. HEK293 or AR42J cells were transfected with constructs expressing CEL with 14 repeats in the VNTR (CEL14R) or C563fsX673 CEL (CEL maturity onset diabetes of youth with a deletion mutation in the VNTR (MODY)). In both cell types, CEL MODY formed intracellular aggregates. Secretion of CEL MODY was decreased compared with that of CEL14R. Expression of CEL MODY increased endoplasmic reticulum stress, activated the unfolded protein response, and caused cell death by apoptosis. Our results demonstrate that disorders of protein homeostasis can lead to CP and suggest that novel therapies to decrease the intracellular accumulation of misfolded protein may be successful in some patients with CP.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27650499"
-},
{
"id": "pmid:27773618",
"manubot_success": true,
@@ -75764,39 +76466,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23395566"
},
-{
- "id": "pmid:21784842",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/21784842",
- "title": "Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.",
- "type": "article-journal",
- "doi": "10.1074/jbc.m111.222679",
- "authors": [
- ["Bente B", "Johansson"],
- ["Janniche", "Torsvik"],
- ["Lise", "Bj\u00f8rkhaug"],
- ["Mette", "Vesterhus"],
- ["Anja", "Ragvin"],
- ["Erling", "Tjora"],
- ["Karianne", "Fjeld"],
- ["Dag", "Hoem"],
- ["Stefan", "Johansson"],
- ["Helge", "R\u00e6der"],
- ["Susanne", "Lindquist"],
- ["Olle", "Hernell"],
- ["Miriam", "Cnop"],
- ["Jaakko", "Saraste"],
- ["Torgeir", "Flatmark"],
- ["Anders", "Molven"],
- ["P\u00e5l R", "Nj\u00f8lstad"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2011-07-22",
- "abstract": "CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hypothesized that the disease mechanism might involve a negative effect of the mutant protein. In silico analysis showed that the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT) to 11.8 in mutant (MUT) human CEL. By stably overexpressing CEL-WT and CEL-MUT in HEK293 cells, we found similar glycosylation, ubiquitination, constitutive secretion, and quality control of the two proteins. The CEL-MUT protein demonstrated, however, a high propensity to form aggregates found intracellularly and extracellularly. Different physicochemical properties of the intrinsically disordered tandem repeat domains of WT and MUT proteins may contribute to different short and long range interactions with the globular core domain and other macromolecules, including cell membranes. Thus, we propose that CEL-MODY is a protein misfolding disease caused by a negative gain-of-function effect of the mutant proteins in pancreatic tissues.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21784842"
-},
{
"id": "pmid:15841033",
"manubot_success": true,
@@ -75855,7 +76524,7 @@
"publisher": "Human genomics",
"issn": "1479-7364",
"date": "2026-04-05",
- "abstract": "Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by (CCTG)",
+ "abstract": "Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by (CCTG)n repeat expansions in intron 1 of the CNBP gene. Recent evidence from long-read sequencing suggests these expansions may be more complex than previously recognized. Aim. To comprehensively characterize the composition, intergenerational dynamics, and clinical impact of novel (TCTG)n motifs within the CNBP expanded alleles in a large DM2 cohort. Methods. We analyzed 100 genetically confirmed DM2 individuals (45 sporadic, 55 familial). The presence of (TCTG)n blocks was detected using an optimized quadruplet-repeat primed PCR (QP-PCR) assay coupled with Sanger sequencing. In a subset of nine patients, Cas9-mediated enrichment followed by Nanopore Long-Read Sequencing (LRS) provided nucleotide-level resolution of the expanded alleles. Haplotype analysis was performed using STR markers. Results. We identified (TCTG)n blocks at the 3\u2032 end of the expansion in 88% of patients. This refined assay corrected nine initial false-negative diagnoses from standard testing. LRS analysis confirmed the composition and revealed the dynamics of the (TCTG)n tract in familial transmission, showing a tendency for contraction and, in one case, complete loss. Genotype\u2013phenotype correlation analysis indicated that the presence of the (TCTG)n motif acts as a disease modifier, significantly influencing the age of onset. Conclusion. The detailed characterization of the CNBP expansion reveals the novel (TCTG)n component that is integral to the DM2 genotype. Understanding its composition and dynamics enhances diagnostic accuracy and provides a new framework for genetic counselling, prognostic stratification and future personalized therapies. .",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41937177"
},
@@ -77482,44 +78151,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12483437"
},
-{
- "id": "pmid:41268177",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41268177",
- "title": "Novel, complex configurations of the",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcaf433",
- "authors": [
- ["Mark F", "Bennett"],
- ["Mark A", "Corbett"],
- ["Thessa", "Kroes"],
- ["Laura", "Canafoglia"],
- ["Karen L", "Oliver"],
- ["Jillian M", "Cameron"],
- ["Neblina", "Sikta"],
- ["Jacob", "Munro"],
- ["Liam G", "Fearnley"],
- ["Kristina", "Iba\u00f1ez"],
- ["Arianna", "Tucci"],
- ["Sanjay M", "Sisodiya"],
- ["Michael S", "Hildebrand"],
- ["Ingrid E", "Scheffer"],
- ["Carolina", "Courage"],
- ["Anna-Elina", "Lehesjoki"],
- ["Loretta", "Giuliano"],
- ["Giuseppe", "Didato"],
- ["Silvana", "Franceschetti"],
- ["Jozef", "Gecz"],
- ["Samuel F", "Berkovic"],
- ["Melanie", "Bahlo"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2025-11-03",
- "abstract": "Repeat expansions are a known cause of progressive myoclonic epilepsy (PME) and familial adult myoclonic epilepsy (FAME). We hypothesized that PME and FAME may have an overlapping phenotypic spectrum and searched for pathogenic repeat expansions in 18 individuals from 15 families with later-onset PME or FAME. We generated whole genome sequencing data by short-read sequencing and searched for known and novel repeat expansions. No known, pathogenic repeat expansions were identified. Instead, we discovered a novel TTGTA expansion in the gene",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41268177"
-},
{
"id": "pmid:40442775",
"manubot_success": true,
@@ -78511,7 +79142,7 @@
"publisher": "BMC medical genomics",
"issn": "1755-8794",
"date": "2026-03-29",
- "abstract": "Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by mutations in the",
+ "abstract": "BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene. Reports of DMD resulting from complex structural variants involving the DMD gene are rare, partly because such variants are often undetectable by standard diagnostic approaches such as multiplex ligation-dependent probe amplification (MLPA) and short-read whole-exome sequencing (WES). CASE PRESENTATION: Using long-read sequencing, we identified two unrelated pedigrees with complex structural rearrangements affecting the DMD locus. Case 1 carried an inversion encompassing exon 2 of DMD. Case 2 harbored a large-scale inversion of the DMD gene accompanied by two segmental duplications arising as a direct consequence of the inversion; the entire complex allele was maternally inherited. In both instances, simple tandem repeats were present at most of the breakpoints. CONCLUSIONS: Our findings demonstrate that long-read sequencing is a powerful tool for resolving complex structural variants. The simple tandem repeats identified at the inversion breakpoints in DMD patients enhance our understanding of the mutational mechanisms underlying structural variation, which in turn aids in developing potential therapeutic strategies.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41906116"
},
@@ -79730,6 +80361,53 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7705851"
},
+{
+ "id": "pmid:42273033",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42273033",
+ "title": "Neurofilament light chain reflects motor impairment in myotonic dystrophy type 1.",
+ "type": "article-journal",
+ "doi": "10.3389/fneur.2026.1820238",
+ "authors": [
+ ["Chul Hwi", "Shin"],
+ ["Incheol", "Seo"],
+ ["Ye-Ri", "Kim"],
+ ["Jin-Mo", "Park"],
+ ["Jin-Sung", "Park"]
+ ],
+ "publisher": "Frontiers in neurology",
+ "issn": "1664-2295",
+ "date": "2026-05-26",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG trinucleotide repeat expansion in the dystrophia myotonica-protein kinase (DMPK) gene and is characterized by progressive muscle weakness with multisystemic involvement, including the central nervous system (CNS). Neurofilament light chain (NfL) has emerged as a biomarker of neuroaxonal damage in various neurological conditions. This study aimed to evaluate plasma NfL as a biomarker of disease severity by examining its association with motor function in ambulatory patients with DM1.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42273033"
+},
+{
+ "id": "pmid:42261605",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42261605",
+ "title": "Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.",
+ "type": "article-journal",
+ "doi": "10.1002/path.70084",
+ "authors": [
+ ["Md Mehedi", "Hasan"],
+ ["Jenna", "Craddock"],
+ ["Tingting", "Gong"],
+ ["Ruth J", "Lyons"],
+ ["Igor", "Stevanovski"],
+ ["Sanjog R", "Chintalaphani"],
+ ["Ira W", "Deveson"],
+ ["Weerachai", "Jaratlerdsiri"],
+ ["Kishore R", "Kumar"],
+ ["Vanessa M", "Hayes"]
+ ],
+ "publisher": "The Journal of pathology",
+ "issn": "1096-9896",
+ "date": "2026-06-09",
+ "abstract": "Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine-thymine-guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications. While somatic mosaicism and meiotic instability are well established, to the best of our knowledge, no study has performed a genome-wide interrogation for global inherited instability. Performing whole-genome optical mapping, with sequence base-resolved structural variant verification, we examine global inherited genomic instability in an atypical paternally transmitted DM1 family presenting with a range of neurological manifestations, including early-onset Parkinson's disease (PD). While the juvenile-onset DM1 proband presented with a 10-fold repeat expansion with associated hypermethylation, her partially hypermethylated asymptomatic protomutation father transmitted a 1.8-fold contracted allele in the younger premutation sibling. Adult-onset symptomatic DM1 and PD phenotypic paternal aunts showed significant genome-wide copy number alteration, including PD-associated chr19 aneuploidy loss, with additional losses on chr16, 17, and 22. In the absence of potentially pathogenic de novo or maternally inherited structural variants, the proband presented with large paternally inherited aberrations impacting gene candidates CASC15, CBFA2T3, GPHN, H3F3A, SDK1, and SPAG16, with advanced global hypomethylation. Here we suggest that inherited genomic instability may contribute to phenotypic variability, including multi-neurological presentations and single-generation repeat expansion or contraction. By providing a landscape of inherited large structural variants, this single-family study expands knowledge of this broad and growing class of diseases. \u00a9 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42261605"
+},
{
"id": "pmid:42133999",
"manubot_success": true,
@@ -79752,26 +80430,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42133999"
},
-{
- "id": "pmid:41996006",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41996006",
- "title": "Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy Type 1: Current Status and Future Directions.",
- "type": "article-journal",
- "doi": "10.1007/s40291-026-00848-3",
- "authors": [
- ["Mohamed", "Chahine"],
- ["Vamsi Krishna Murthy", "Ginjupalli"],
- ["Dominic", "Jauvin"],
- ["Mohamed", "Boutjdir"]
- ],
- "publisher": "Molecular diagnosis & therapy",
- "issn": "1179-2000",
- "date": "2026-04-17",
- "abstract": "Myotonic dystrophy type 1 is the most prevalent adult-onset muscular dystrophy and is characterized by progressive muscle weakness, myotonia, cardiac conduction defects, endocrine dysfunction, and central nervous system involvement. Myotonic dystrophy type 1\u00a0is caused by an unstable CTG repeat expansion in the 3' untranslated region of the DMPK gene, which produces toxic CUG-expanded transcripts that sequester RNA-binding proteins such as Muscleblind-like, induce widespread alternative splicing defects, and drive an RNA gain-of-function mechanism rather than simple DMPK haploinsufficiency. Despite major advances in understanding the molecular pathogenesis of myotonic dystrophy type 1, there is still no approved cure or disease-modifying therapy. This review summarizes the molecular basis of myotonic dystrophy type 1 and provides an in-depth overview of emerging therapeutic strategies that directly target the underlying pathogenic cascade at the DNA and RNA levels. Gene therapy-based approaches, including CRISPR-mediated genome editing, aim to reduce or eliminate the expanded CTG repeats or expanded DMPK allele and its toxic transcripts. In parallel, a broad spectrum of RNA-directed interventions is being developed, encompassing antisense oligonucleotides, antibody-penetrating and cell-penetrating peptide-conjugated antisense oligonucleotides to enhance skeletal and cardiac muscle delivery, small interfering RNAs, and microRNA-based tools such as antagomiRs. Additional strategies exploit engineered RNA-binding proteins and peptide decoys to disrupt toxic ribonuclear aggregates, polyadenylation signal-driven premature transcriptional termination to selectively silence mutant DMPK, and small molecules that modulate RNA metabolism, dissolve CUG RNA foci, or correct downstream mis-splicing. By integrating data from preclinical models and ongoing clinical trials, including recent advances with muscle\u2011targeted antisense oligonucleotide conjugates and gene therapy, this review outlines the current status, strengths, and limitations of these mechanism-based therapies for myotonic dystrophy type 1. The discussion highlights key translational challenges such as efficient delivery to skeletal muscle, the heart, and brain, long-term safety, and robust pharmacodynamic biomarkers as well as opportunities for combination and next-generation approaches aimed at converting molecular correction into durable clinical benefit for patients with myotonic dystrophy type 1.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41996006"
-},
{
"id": "pmid:41974889",
"manubot_success": true,
@@ -80395,55 +81053,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40092662"
},
-{
- "id": "pmid:39710066",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39710066",
- "title": "Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.",
- "type": "article-journal",
- "doi": "10.1016/j.mcp.2024.102005",
- "authors": [
- ["Ingrid", "Lojova"],
- ["Marcel", "Kucharik"],
- ["Zuzana", "P\u00f6s"],
- ["Andrej", "Balaz"],
- ["Andrea", "Zatkova"],
- ["Eva", "Tothova Tarova"],
- ["Jaroslav", "Budis"],
- ["Ludevit", "Kadasi"],
- ["Tomas", "Szemes"],
- ["Jan", "Radvanszky"]
- ],
- "publisher": "Molecular and cellular probes",
- "issn": "1096-1194",
- "date": "2024-12-29",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a serious multisystem disorder caused by GCA repeat expansions in the DMPK gene. Early and accurate diagnosis, often requiring reliable DNA-diagnostic techniques, is critical for preventing life-threatening cardiac complications. Clinically, two main diagnostic challenges exist. Firstly, because of overlapping symptomatology with other conditions, conventional DNA-testing methods focusing on DM1 expansion detection ensure diagnostic results only in a small subset of patients, and frequently, further DNA-testing in remaining cases is necessary. Secondly, because of variable symptomatology and age of onset, not all DM1 patients are referred for DM1 genetic testing, leading to unrecognized but at-risk cases. When using conventional methods, the main technical problems are expanded-allele sizing and sensitivity to the presence of sequence interruptions. On a set of 50 individual genomes, including ten DM1 patients, we tested the performance of short-read whole-genome sequencing (WGS), one of the most up-to-date molecular testing methods. We identified all expansion-range DM1 alleles and characterized sequence interruptions in seven expansion-range/premutation-range alleles. Although neither the tested conventional methods, nor WGS allowed expanded-allele sizing, conventional methods provided higher sizing limits for normal-range alleles. Genotyping concordance rate was found to be 95-99\u00a0%. WGS was found to be superior in elucidating the sequence structure of the motifs, even if they fall outside the sizing limit (from partial reads). In addition, WGS enables the identification of genetic modifiers in other genes and the detection of alternative diagnoses in DM1-negative patients by extension of the bioinformatic evaluation of the generated data.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39710066"
-},
-{
- "id": "pmid:39679849",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39679849",
- "title": "Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddae186",
- "authors": [
- ["Masayoshi", "Kamon"],
- ["Shuji", "Wakatsuki"],
- ["Masayuki", "Nakamori"],
- ["Masanori P", "Takahashi"],
- ["Madoka", "Mori-Yoshimura"],
- ["Hirofumi", "Komaki"],
- ["Toshiyuki", "Araki"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2025-02-08",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability. It has been demonstrated that DM1 patient-derived induced pluripotent stem cells (DM1-iPSCs) show repeat instability, in which involvement of mismatch repair proteins has been suggested. Here we identified ZNF850 as a novel CTG repeat expansion-related molecule in DM1-iPSCs. ZNF850 was downregulated in a DM1-iPSC clone whose CTG repeat is exceptionally stable. We found that RNAi-mediated ZNF850 downregulation in DM1-iPSCs significantly reduced the repeat expansion and resulting instability. In adult skeletal muscle tissue of DM1 patients, ZNF850 expression levels were positively correlated with the repeat size. Furthermore, we found that ZNF850 protein can bind to the expanded CTG repeat sequence, and is located in proximity to MutS\u03b2 components. These results suggest that ZNF850 might play a role in repeat instability in DM1 by recruiting MutS\u03b2 to the repeat sequence.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39679849"
-},
{
"id": "pmid:39492694",
"manubot_success": true,
@@ -86040,28 +86649,10 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8288237"
},
{
- "id": "pmid:42204984",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42204984",
- "title": "GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.",
- "type": "article-journal",
- "doi": "10.1111/cge.70184",
- "authors": [
- ["Eva-Maria", "Kraus"],
- ["Johannes", "Lenz"],
- ["Pauline", "Ploettner"],
- ["Patricia", "Duffek"],
- ["Jost-Julian", "Rumpf"],
- ["Rami Abou", "Jamra"],
- ["John", "Wiedenhoeft"],
- ["Denny", "Popp"]
- ],
- "publisher": "Clinical genetics",
- "issn": "1399-0004",
- "date": "2026-05-28",
- "abstract": "GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long-range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom bioinformatics pipeline based on a modified cyclic Smith-Waterman algorithm. This approach provided streamlined detection and enabled precise genotyping. Among sporadic cases, 10% had a pathogenic and 6% an intermediate repeat expansion. Across the entire cohort, 13% carried a pathogenic and 5% an intermediate repeat expansion. Diagnostic yield varied substantially by clinical presentation: 50% in cases with typical GAA-FGF14-ataxia features, 13% in patients with compatible but less characteristic features and 5% in atypical presentations. In conclusion, this study further corroborates existing evidence that GAA-FGF14 ataxia is a frequent cause of both sporadic and familial cerebellar ataxia. Given its high diagnostic yield and the limited detectability by standard short-read genome sequencing, targeted testing should be more widely implemented.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42204984"
+ "id": "pmid:",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/",
+ "note": "WARNING: Couldn't parse Manubot response: list index out of range"
},
{
"id": "pmid:42178418",
@@ -86118,28 +86709,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42168446"
},
-{
- "id": "pmid:42090775",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42090775",
- "title": "Challenges in the diagnosis of spinocerebellar ATAXIA 27B.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2026.125969",
- "authors": [
- ["N\u00faria Caballol", "Pons"],
- ["Alejandro Peral", "Quir\u00f3s"],
- ["Anna", "Planas-Ballv\u00e9"],
- ["Paula Lombardo", "Del Toro"],
- ["Imma Hernan", "Sendra"],
- ["Asunci\u00f3n \u00c1vila", "Rivera"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2026-04-30",
- "abstract": "To characterize the clinical, radiologic, and genetic spectrum of patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic challenges associated with spinocerebellar ataxia type 27B (SCA27B).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42090775"
-},
{
"id": "pmid:42055934",
"manubot_success": true,
@@ -86832,49 +87401,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40017559"
},
-{
- "id": "pmid:39996128",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39996128",
- "title": "Involvement of the Superior Cerebellar Peduncles in GAA-",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200253",
- "authors": [
- ["Shihan", "Chen"],
- ["Catherine", "Ashton"],
- ["Rawan", "Sakalla"],
- ["Guillemette", "Clement"],
- ["Sophie", "Planel"],
- ["C\u00e9line", "Bonnet"],
- ["Phillipa J", "Lamont"],
- ["Karthik", "Kulanthaivelu"],
- ["Atchayaram", "Nalini"],
- ["Henry", "Houlden"],
- ["Antoine", "Duquette"],
- ["Marie-Jos\u00e9e", "Dicaire"],
- ["Pablo", "Iruzubieta Agudo"],
- ["Javier", "Ruiz-Martinez"],
- ["Enrique", "Marco De Lucas"],
- ["Rodrigo", "Sutil Berjon"],
- ["Jon", "Infante Ceberio"],
- ["Elisabetta", "Indelicato"],
- ["Sylvia M", "Boesch"],
- ["Matthis", "Synofzik"],
- ["Benjamin", "Bender"],
- ["Matt C", "Danzi"],
- ["Stephan", "Zuchner"],
- ["David", "Pellerin"],
- ["Bernard", "Brais"],
- ["Mathilde", "Renaud"],
- ["Roberta", "La Piana"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2025-02-21",
- "abstract": "GAA-",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39996128"
-},
{
"id": "pmid:39821862",
"manubot_success": true,
@@ -87862,6 +88388,138 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:15470364"
},
+{
+ "id": "pmid:42353815",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42353815",
+ "title": "Establishment of a New-Generation National Reference Material System for Fragile X Syndrome Using Targeted Long-Read Sequencing.",
+ "type": "article-journal",
+ "doi": "10.3390/genes17060656",
+ "authors": [
+ ["Mi", "Zhang"],
+ ["Wenxin", "Zhang"],
+ ["Fei", "Gao"],
+ ["Huiying", "Fang"],
+ ["Li", "Zhang"],
+ ["Yaning", "Qi"],
+ ["Wei", "Zhang"],
+ ["Peiwen", "Xu"],
+ ["Jie", "Li"],
+ ["Shoufang", "Qu"]
+ ],
+ "publisher": "Genes",
+ "issn": "2073-4425",
+ "date": "2026-06-02",
+ "abstract": "Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual disability and is primarily caused by CGG repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42353815"
+},
+{
+ "id": "pmid:42330760",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42330760",
+ "title": "Intermediate FMR1 cytosine\u2012guanine\u2012guanine repeats do not impair assisted reproductive technology outcomes in a large real-world cohort.",
+ "type": "article-journal",
+ "doi": "10.1016/j.rbmo.2026.105783",
+ "authors": [
+ ["Adi", "Dayan-Schwartz"],
+ ["Nitzan Dana", "Sela"],
+ ["Ido", "Izhaki"],
+ ["Morad", "Khayat"],
+ ["Shira", "Baram"],
+ ["Ronit", "Beck-Fruchter"]
+ ],
+ "publisher": "Reproductive biomedicine online",
+ "issn": "1472-6491",
+ "date": "2026-05-20",
+ "abstract": "Does the presence of moderately elevated FMR1 cytosine\u2012guanine\u2012guanine (CGG) repeat numbers (40-70 repeats), identified through routine pre-pregnancy screening, adversely affect assisted reproductive technology (ART) outcomes in a real-world population?",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42330760"
+},
+{
+ "id": "pmid:42325958",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42325958",
+ "title": "Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis.",
+ "type": "article-journal",
+ "doi": "10.3389/fnmol.2026.1856101",
+ "authors": [
+ ["Andrea", "Elias-Mas"],
+ ["Esther Granell", "Moreno"],
+ ["C\u00e8lia Painous", "Mart\u00ed"],
+ ["Marta", "Rubio-Roy"],
+ ["Jorge", "Aguado-Gracia"],
+ ["Emma", "Mu\u00f1oz-Moreno"],
+ ["Alejandro", "Hinojosa"],
+ ["I\u00f1igo", "Herrero"],
+ ["Maria Isabel", "Alvarez-Mora"],
+ ["Randi", "Hagerman"],
+ ["Jun Yi", "Wang"],
+ ["Idoia", "Zaro"],
+ ["Sofia Gonz\u00e1lez", "Ortiz"],
+ ["Jerzy", "Krupinski"],
+ ["Laia", "Rodriguez-Revenga"]
+ ],
+ "publisher": "Frontiers in molecular neuroscience",
+ "issn": "1662-5099",
+ "date": "2026-05-28",
+ "abstract": "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects carriers of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42325958"
+},
+{
+ "id": "pmid:42301916",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42301916",
+ "title": "The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkag569",
+ "authors": [
+ ["Daria", "Niewiadomska"],
+ ["Agnieszka", "Piasecka"],
+ ["Anna", "Baud"],
+ ["Izabela", "Broniarek"],
+ ["Krzysztof", "Sobczak"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2026-06-08",
+ "abstract": "Repeat-associated non-AUG (RAN) translation of mutant FMR1 messenger RNA (mRNA) containing CGG repeat expansions results in the production of a toxic polyglycine protein (FMRpolyG), which contributes to fragile X premutation-associated conditions (FXPAC), including fragile X-associated tremor/ataxia syndrome (FXTAS). The 5' untranslated region of FMR1 mRNA folds into a thermodynamically stable secondary structure at the region of excessively expanded CGG repeats and constitutes a template for RAN translation initiated from near-cognate start codons located upstream of the CGGs. Cis-regulatory elements, including sequence context and stable secondary structures within mRNA, can affect translation initiation and elongation. Here, we show that different nucleotide sequence contexts close to the near-cognate start codon affect FMRpolyG synthesis. Moreover, the distance between the near-cognate start codon and downstream stable RNA structure considerably affects the efficiency of RAN translation initiation, which is positively correlated with the number of CGG repeats. In contrast, translation elongation is impaired as CGG repeats expand. We show that native FMRpolyG containing a short polyglycine tract is synthesized efficiently but rapidly degraded by the proteasome. Our results provide insight into the structural dependencies that regulate the translation of CGGs and can be used in other repeat expansion disorders. We also show that the RNA structure is a potential therapeutic target in FXPAC.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42301916"
+},
+{
+ "id": "pmid:42293335",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42293335",
+ "title": "Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.",
+ "type": "article-journal",
+ "doi": "10.1155/humu/3130383",
+ "authors": [
+ ["Mehmet Burak", "Mutlu"],
+ ["\u00d6zge Beyza G\u00fcndo\u011fdu", "\u00d6\u011f\u00fctl\u00fc"],
+ ["\u00d6zlem", "\u00d6z"],
+ ["Fahrettin", "Duymu\u015f"],
+ ["Serhat", "Seyhan"],
+ ["Ay\u015fe G\u00fcl Bayrak", "Toka\u00e7"],
+ ["Esad", "Tezcan"],
+ ["Hakan", "\u00d6\u011f\u00fctl\u00fc"],
+ ["Fatma", "Demiry\u0131lmaz"],
+ ["Nurcan", "Silahtarl\u0131o\u011flu"],
+ ["Kader", "Bilgil"],
+ ["S\u00fcmeyye", "Elma"],
+ ["Murat", "Erdo\u011fan"],
+ ["Hakan", "G\u00fcm\u00fc\u015f"],
+ ["Sefer", "Kumanda\u015f"],
+ ["Fethiye", "K\u0131l\u0131\u00e7aslan"]
+ ],
+ "publisher": "Human mutation",
+ "issn": "1098-1004",
+ "date": "2026-06-11",
+ "abstract": "Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single-nucleotide variants (SNVs) and structural variants (SVs), including copy-number variants (CNVs), have been reported as important contributors to the genetic basis of ASD. In this study, we evaluated the diagnostic contribution of optical genome mapping (OGM) as a complementary cytogenomic approach in a selected ASD cohort enriched for complex ASD with developmental delay/intellectual disability (DD/ID) and/or additional neurodevelopmental or syndromic features. We retrospectively evaluated 34 individuals with ASD who underwent OGM analysis, most of whom had concomitant DD/ID and/or additional neurological, congenital, or syndromic features. Confirmed pathogenic (P) or likely pathogenic (LP) findings were identified in 7/34 individuals (20.6%), and one additional unconfirmed OGM-only duplication was provisionally interpreted as pathogenic. Overall, confirmed or provisional P/LP findings were observed in 8/34 individuals (23.5%), all of whom had complex ASD with DD/ID and/or additional neurodevelopmental or syndromic features. OGM-detected findings were confirmed by orthogonal methods whenever clinically and technically feasible, and segregation analyses were performed when samples were available. These results suggest that OGM may add value to integrated genetic testing workflows for selected individuals with complex ASD, particularly when SVs, complex chromosomal rearrangements, or",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42293335"
+},
{
"id": "pmid:42041789",
"manubot_success": true,
@@ -101233,6 +101891,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8698331"
},
+{
+ "id": "pmid:8826482",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/8826482",
+ "title": "Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.",
+ "type": "article-journal",
+ "doi": "10.1002/(sici)1096-8628(19960712)64:1<234::aid-ajmg42>3.0.co;2-l",
+ "authors": [
+ ["M", "Syrrou"],
+ ["P C", "Patsalis"],
+ ["I", "Georgiou"],
+ ["M I", "Hadjimarcou"],
+ ["C D", "Constantinou-Deltas"],
+ ["G", "Pagoulatos"]
+ ],
+ "publisher": "American journal of medical genetics",
+ "issn": "0148-7299",
+ "date": "1996-07-12",
+ "abstract": "The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of \"founder\" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8826482"
+},
{
"id": "pmid:8826479",
"manubot_success": true,
@@ -102061,6 +102741,118 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7633459"
},
+{
+ "id": "pmid:42383006",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42383006",
+ "title": "Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia:",
+ "type": "article-journal",
+ "doi": "10.1016/j.isci.2026.116479",
+ "authors": [
+ ["Zenouska", "Ramchunder"],
+ ["Ester", "Kalef-Ezra"],
+ ["Saqlain", "Suleman"],
+ ["Fred Jonathan", "Edzeamey"],
+ ["Sandor", "Szunyogh"],
+ ["Owen", "Gittins"],
+ ["Natalia", "Castro Mena"],
+ ["Richard", "Wade-Martins"],
+ ["Adamo", "Valle"],
+ ["Charareh", "Pourzand"],
+ ["Sara", "Anjomani Virmouni"]
+ ],
+ "publisher": "iScience",
+ "issn": "2589-0042",
+ "date": "2026-06-22",
+ "abstract": "Friedreich's ataxia (FRDA) is an inherited neurodegenerative disorder caused by a GAA repeat expansion within the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42383006"
+},
+{
+ "id": "pmid:42331777",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42331777",
+ "title": "Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model.",
+ "type": "article-journal",
+ "doi": "10.1038/s41419-026-09030-3",
+ "authors": [
+ ["Jarmon G", "Lees"],
+ ["Haoxiang", "Zhang"],
+ ["Lebei", "Jiao"],
+ ["Anne M", "Kong"],
+ ["Ren Jie", "Phang"],
+ ["Li", "Li"],
+ ["Nan", "Su"],
+ ["Sebastian", "Bass-Stringer"],
+ ["Hei-Yi H", "Woo"],
+ ["Anthony S", "Mukhtar"],
+ ["Alice", "P\u00e9bay"],
+ ["Mirella", "Dottori"],
+ ["Louise", "Corben"],
+ ["Martin", "Delatycki"],
+ ["Roger", "Peverill"],
+ ["Stephen", "Wilcox"],
+ ["Jarny", "Choi"],
+ ["Jeffrey M", "Pullin"],
+ ["Davis", "McCarthy"],
+ ["Jill S", "Napierala"],
+ ["Marek", "Napierala"],
+ ["Shiang Y", "Lim"]
+ ],
+ "publisher": "Cell death & disease",
+ "issn": "2041-4889",
+ "date": "2026-06-23",
+ "abstract": "Friedreich ataxia (FRDA) is a progressive neuromuscular degenerative disorder caused by GAA repeat expansions in the FXN gene, leading to frataxin deficiency and multisystem pathology. Cardiomyopathy is the leading cause of mortality in individuals with FRDA. To investigate the cellular and molecular mechanisms underlying FRDA-associated cardiac dysfunction, we employed induced pluripotent stem cell (iPSC) lines derived from three individuals with FRDA, each paired with an isogenic control line generated through CRISPR/Cas9-mediated excision of the pathogenic GAA repeat expansion. Correction of the mutation restored FXN expression to levels comparable to healthy donor iPSCs, and all lines differentiated efficiently into cardiomyocytes. Functional analysis revealed significant contractile abnormalities in FRDA cardiomyocytes and multicellular cardiac microtissues, including prolonged contraction and relaxation times and faster beating rates, consistent with clinical observations of cardiac contractile dysfunction. FRDA cardiomyocytes also exhibited pathological features such as increased cell size, irregular calcium transients, elevated mitochondrial reactive oxygen species levels, increased mitochondrial fission and increased cell death. These phenotypes were exacerbated by pathological levels of iron supplementation in culture media, highlighting the heightened sensitivity of frataxin-deficient cardiomyocytes to iron-induced metabolic stress. RNA sequencing revealed a distinct transcriptional profile associated with frataxin deficiency. MEG3 and PCDHGA10 were consistently dysregulated across all three FRDA-iPSC lines and may represent early molecular markers of FRDA cardiomyopathy. Functional interrogation of these candidates demonstrated that targeted silencing of MEG3 or PCDHGA10 in FRDA cardiomyocytes significantly reduced disease\u2011associated cell death without affecting FXN expression. Notably, PCDHGA10 silencing also normalized elevated mitochondrial reactive oxygen species, whereas MEG3 silencing did not, highlighting gene\u2011specific contributions to FRDA cardiomyocyte survival. Collectively, these findings identify MEG3 and PCDHGA10 as functionally relevant regulators of FRDA cardiomyocyte pathology.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42331777"
+},
+{
+ "id": "pmid:42253100",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42253100",
+ "title": "Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.",
+ "type": "article-journal",
+ "doi": "10.1177/22143602261452334",
+ "authors": [
+ ["Barbara K", "Smith"],
+ ["Mackenzi A", "Coker"],
+ ["Cristina", "Liberati"],
+ ["Blake P", "Meyer"],
+ ["Samantha", "Norman"],
+ ["Jessica", "Ehrbar"],
+ ["Carmen", "Leon-Astudillo"],
+ ["Sub", "Subramony"],
+ ["Manuela", "Corti"]
+ ],
+ "publisher": "Journal of neuromuscular diseases",
+ "issn": "2214-3602",
+ "date": "2026-06-08",
+ "abstract": "BackgroundFriedreich's ataxia (FRDA), a common hereditary ataxia with multisystem involvement, is caused by a biallelic GAA trinucleotide repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42253100"
+},
+{
+ "id": "pmid:42227166",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42227166",
+ "title": "Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions.",
+ "type": "article-journal",
+ "doi": "10.1002/acn3.70408",
+ "authors": [
+ ["Michael P", "Lazaropoulos"],
+ ["Morgan C", "Devore"],
+ ["Christina", "Lam"],
+ ["Courtney", "Park"],
+ ["Sanjay", "Bidichandani"],
+ ["David R", "Lynch"]
+ ],
+ "publisher": "Annals of clinical and translational neurology",
+ "issn": "2328-9503",
+ "date": "2026-06-02",
+ "abstract": "We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion counterparts, including increased frequency of cardiomyopathy, diabetes, and optic neuropathy. Their phenotypes were like those of individuals with distal deletions and null pathogenic variants in the frataxin gene. Covert proximal frataxin gene deletions should be suspected when genetic testing fails to demonstrate two distinct expanded alleles in patients with severe phenotypes.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42227166"
+},
{
"id": "pmid:42134333",
"manubot_success": true,
@@ -108502,7 +109294,7 @@
"publisher": "Genome medicine",
"issn": "1756-994X",
"date": "2026-03-27",
- "abstract": "Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are often similar, such as ptosis, dysphagia, and distal muscle weakness, the age at onset vary widely, and the mechanisms underlying this variation remain unclear. In particular, the contributions of repeat size, flanking sequence variation, and DNA methylation to phenotype have not been systematically explored using single-molecule resolution.",
+ "abstract": "BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are often similar, such as ptosis, dysphagia, and distal muscle weakness, the age at onset vary widely, and the mechanisms underlying this variation remain unclear. In particular, the contributions of repeat size, flanking sequence variation, and DNA methylation to phenotype have not been systematically explored using single-molecule resolution. METHODS: We applied CRISPR/Cas9-targeted nanopore sequencing (nCATS) to genomic DNA from 91 individuals carrying expanded CGG repeats in three OPDM-related genes (LRP12, GIPC1, and NOTCH2NLC). This approach enabled the simultaneous analysis of CGG repeat length, flanking sequence architecture, single nucleotide variant haplotypes, structural variation, and CpG methylation profiles. Genotype\u2013phenotype correlations were evaluated by integrating molecular and clinical data. RESULTS: Expanded LRP12 and GIPC1 alleles in the patients showed respective single nucleotide variant patterns around repeat regions, suggesting founder haplotypes.\u3000Repeat regions essentially comprised pure CGG expansions, but exhibited size variability, even within patients. Additionally, LRP12-expanded repeats lacked flanking nucleotide sequences present in non-expanded repeats, whereas GIPC1 expanded repeats contained specific discontinued CGG patterns in their 5'-regions. Structural variations were also identified in some patients. A significant inverse correlation was observed between repeat length and age at onset in patients with GIPC1 or NOTCH2NLC expansions, while this was disturbed by higher methylation of upstream regions in patients with LRP12 expansions, leading to delayed onset. CONCLUSIONS: This study highlights gene-specific differences in CGG repeat architecture and epigenetic regulation in OPDM. Founder haplotypes, expanded allele-specific flanking sequences, and the combined effects of repeat size and methylation contribute to patient regional frequency, repeat stability, and clinical variability, respectively, offering insight into disease pathomechanism and potential therapeutic targets.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41888971"
},
@@ -108524,7 +109316,7 @@
"publisher": "BMC public health",
"issn": "1471-2458",
"date": "2026-01-19",
- "abstract": "Low- and Middle-Income Countries (LMICs), burdened with a high incidence of cervical cancer, often face challenges in implementing National Immunization Programs (NIP) or Provincial Immunization Programs (PIP) of Human Papillomavirus (HPV) vaccines. In the context of limited resources, the economic evidence provided by Budget Impact Analysis (BIA) becomes crucial for the inclusion of vaccines in the NIP and PIP.",
+ "abstract": "INTRODUCTION: Low- and Middle-Income Countries (LMICs), burdened with a high incidence of cervical cancer, often face challenges in implementing National Immunization Programs (NIP) or Provincial Immunization Programs (PIP) of Human Papillomavirus (HPV) vaccines. In the context of limited resources, the economic evidence provided by Budget Impact Analysis (BIA) becomes crucial for the inclusion of vaccines in the NIP and PIP. METHODS: This study adopted the perspective of the Basic Medical Insurance System (BMIS) payer, took the imported and domestic bivalent HPV vaccines as the target vaccines. We estimated the effect of HPV vaccines on burden of cervical cancer in China from 2019 to 2110, assuming that there were different reimbursement rates and market substitution rates for the vaccines. This study aimed to establish a comprehensive and standardized BIA framework that can be referenced to promote HPV vaccination in LMICs. Input parameters included vaccine efficacy vs. HPV 16/18, target age group, cancer treatment cost (per episode, over lifetime), discount rate, cohort size at 9 years old and etc., which were mainly derived from public sources, published literature, and a database of field surveys on treatment costs for patients of cervical cancer in China. Main outcomes encompassed incidence and treatment costs of cervical cancer, vaccination costs. RESULTS: The proposed BIA framework included the target population, BIA, and uncertainty analysis across three scenarios based on origin. In the case of China, without immunization program, the average yearly spent on cervical cancer treatment throughout the country amounts to $6,736,507.32. Upon the execution of the immunization program (2019\u20132025), this expenditure reduced to $6,645,564.95 each year. Under Scenario 1\u20133, the vaccine reimbursement costs were $62,513,268.73, $44,927,307.37, and $58,916,163.27, respectively. During the period of immunization program, annual vaccination costs constituted a range of 0.05 to 1.08 parts per million relative to the current expenditure of BMIS fund and 2.68 and 14.12 parts per million relative to current balance of BMIS fund. CONCLUSION: The BIA framework provided a valuable reference for policy formulation in other LMICs with a high burden of cervical cancer that have not yet included the vaccine in their NIPs.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41555317"
},
@@ -109410,6 +110202,251 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12116248"
},
+{
+ "id": "pmid:42385197",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42385197",
+ "title": "CD11c",
+ "type": "article-journal",
+ "doi": "10.1111/liv.70761",
+ "authors": [
+ ["Silvia", "D'Orso"],
+ ["Francesca", "La Gualana"],
+ ["Anthony", "Vignone"],
+ ["Silvia", "Acati"],
+ ["Francesca", "Oliva"],
+ ["Annalisa", "Villa"],
+ ["Francesca", "Maiorca"],
+ ["Milvia", "Casato"],
+ ["Lucia", "Stefanini"],
+ ["Silvia", "Piconese"],
+ ["Marcelo", "Teocchi"],
+ ["Giovanna", "Borsellino"],
+ ["Stefania", "Basili"],
+ ["Domenico", "Alvaro"],
+ ["Marcella", "Visentini"],
+ ["Vincenzo", "Cardinale"]
+ ],
+ "publisher": "Liver international : official journal of the International Association for the Study of the Liver",
+ "issn": "1478-3231",
+ "date": "2026-08-01",
+ "abstract": "Autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) are distinct autoimmune liver diseases (AILDs) that differ in pathogenesis and response to therapy. Moreover, some patients exhibit features of both, known as AIH/PBC overlap. Although AILDs are traditionally considered T cell-driven, B cells have emerged as key contributors to disease progression. In this study, we investigated CD11c",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42385197"
+},
+{
+ "id": "pmid:42362792",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42362792",
+ "title": "Anle138b ameliorates pathological phenotypes in mouse and cellular models of Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1038/s44321-026-00459-9",
+ "authors": [
+ ["Miguel", "da Silva Padilha"],
+ ["Seda", "Koyuncu"],
+ ["Evangeline", "Chabanis"],
+ ["Sergey", "Ryazanov"],
+ ["Andrei", "Leonov"],
+ ["David", "Vilchez"],
+ ["R\u00fcdiger", "Klein"],
+ ["Armin", "Giese"],
+ ["Christian", "Griesinger"],
+ ["Irina", "Dudanova"]
+ ],
+ "publisher": "EMBO molecular medicine",
+ "issn": "1757-4684",
+ "date": "2026-06-26",
+ "abstract": "Huntington's disease (HD) is a hereditary movement disorder caused by a CAG repeat expansion in the huntingtin gene. HD is characterized by deposition of mutant huntingtin (mHTT) aggregates, and by severe neurodegeneration of the basal ganglia and neocortex. No cure is currently available, and new treatment options are urgently needed. Here, we show that the oligomer modifying molecule anle138b (INN: emrusolmin) improves multiple disease phenotypes in cell culture and in two mouse models of HD. Application of anle138b reduced mHTT aggregate formation and ameliorated neurotoxicity in primary neurons. Oral administration of anle138b delayed deposition of mHTT inclusions, reduced brain atrophy, mitigated neuroinflammation and transcriptional alterations, improved motor function and extended life span in HD mice. Downregulation of striatal markers and synapse loss in striatal spiny projection neurons were also partially rescued. No adverse effects of anle138b were observed in wildtype animals. Moreover, anle138b markedly decreased mHTT aggregation in human neural precursor cells differentiated from HD patient-derived induced pluripotent stem cells (iPSCs). Altogether these results illustrate the potential of anle138b as a disease-modifying treatment for HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42362792"
+},
+{
+ "id": "pmid:42327018",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42327018",
+ "title": "Somatic CRISPR editing of",
+ "type": "article-journal",
+ "doi": "10.64898/2026.06.08.730940",
+ "authors": [
+ ["Esaria", "Oliver"],
+ ["Marina", "Kovalenko"],
+ ["Mathilde", "Lou\u00e7\u00e3"],
+ ["Andrew", "Jiang"],
+ ["Jordan", "Westerdahl"],
+ ["Kevin", "Correia"],
+ ["Benjamin", "Jones"],
+ ["Faaiza", "Saif"],
+ ["Nicole", "Romano"],
+ ["Ashna", "Sidhu"],
+ ["Tammy", "Gillis"],
+ ["Emanuela", "Elezi"],
+ ["Ryan", "Murtha"],
+ ["Ricardo Mouro", "Pinto"],
+ ["Vanessa C", "Wheeler"]
+ ],
+ "publisher": "bioRxiv : the preprint server for biology",
+ "issn": "2692-8205",
+ "date": "2026-06-10",
+ "abstract": "Huntington's disease (HD) is a fatal, dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in Huntingtin (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42327018"
+},
+{
+ "id": "pmid:42317610",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42317610",
+ "title": "Genetic or pharmacological disruption of the MSH3 Y245/K246 IDL binding pocket slows CAG repeat expansion.",
+ "type": "article-journal",
+ "doi": "10.1093/narmme/ugag031",
+ "authors": [
+ ["Rob", "Goold"],
+ ["Jasmine", "Donaldson"],
+ ["Florence", "Gidney"],
+ ["Philip", "Goff"],
+ ["Joseph", "Hamilton"],
+ ["Marwa", "Elmasri"],
+ ["Lucy", "Coupland"],
+ ["Michael", "Flower"],
+ ["Sarah J", "Tabrizi"]
+ ],
+ "publisher": "NAR molecular medicine",
+ "issn": "2976-856X",
+ "date": "2026-06-05",
+ "abstract": "Recent genetic studies have shown somatic expansion of the CAG repeat is the key process driving Huntington's disease (HD) pathogenesis. Recognition of insertion-deletion loops (IDLs), lesions prone to form within the CAG repeat, by Muts\u03b2 (MSH3/MSH2) is thought to be the primary event in the expansion process. This starts a cascade that leads to error-prone repair and incorporation of additional CAG units into the repeat.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42317610"
+},
+{
+ "id": "pmid:42308683",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42308683",
+ "title": "The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ejpn.2026.06.003",
+ "authors": [
+ ["Sanem", "Yilmaz"],
+ ["Esra", "Serdaroglu"],
+ ["Erdem", "Simsek"],
+ ["Bulent", "Kara"],
+ ["Dilsad", "Turkdogan"],
+ ["Uluc", "Yis"],
+ ["Ilknur", "Erol"],
+ ["Deniz", "Yuksel"],
+ ["Seda", "Kanmaz"],
+ ["Arzu", "Eroglu"],
+ ["Mehmet", "Canpolat"],
+ ["Mustafa", "Komur"],
+ ["Nese", "C\u0131tak Kurt"],
+ ["Ayfer", "Sakarya Gunes"],
+ ["Didem", "Soydemir"],
+ ["Seyda", "Besen"],
+ ["Omer", "Bektas"],
+ ["Serkan", "Kirik"],
+ ["Hale", "Atalay Celik"],
+ ["Didem", "Ardicli"],
+ ["Ayse", "Aksoy"],
+ ["Coskun", "Yarar"],
+ ["Cisil", "Cerci Kubur"],
+ ["Nihal", "Olgac Dundar"],
+ ["Olcay", "Gungor"],
+ ["Tulay", "Kamasak"],
+ ["Cemile Busra", "Olculu"],
+ ["Hakan", "Gumus"],
+ ["Mirac", "Yildirim"],
+ ["Esra", "Isik"],
+ ["Tahir", "Atik"],
+ ["Ozgur", "Cogulu"],
+ ["Ayse Nazli", "Basak"],
+ ["Deniz", "Sunnetci Akkoyunlu"],
+ ["Derya Hazal", "\u00d6zbak\u0131r"],
+ ["G\u00fcls\u00fcm", "Kayhan"],
+ ["Hamide Betul", "Gerik \u00c7elebi"],
+ ["Kadri", "Karaer"],
+ ["Munis", "Dundar"],
+ ["Rauan", "Kaiyrzhanov"],
+ ["Serdar", "Ceylaner"],
+ ["Huseyin", "Per"],
+ ["Ayse Semra", "Hiz"],
+ ["Ali", "Cansu"],
+ ["Cetin", "Okuyaz"],
+ ["Banu", "Anlar"],
+ ["Hasan", "Tekgul"]
+ ],
+ "publisher": "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society",
+ "issn": "1532-2130",
+ "date": "2026-06-16",
+ "abstract": "Childhood-onset dystonia (COD) encompasses a clinically and etiologically heterogeneous group of disorders, often with overlapping features. Genetic testing plays a pivotal role in uncovering underlying causes, identifying treatable subtypes, and informing individualized management strategies.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42308683"
+},
+{
+ "id": "pmid:42238417",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42238417",
+ "title": "Defective B cell tolerance in SLE lymph nodes underpins VH",
+ "type": "article-journal",
+ "doi": "10.64898/2026.05.18.26353148",
+ "authors": [
+ ["Caterina E", "Faliti"],
+ ["Midushi", "Ghimire"],
+ ["Melissa", "Garcia-Vega"],
+ ["Rachel C", "Watermeier"],
+ ["Amanda", "Callahan"],
+ ["Julia", "Burke"],
+ ["Olivia", "Posadas"],
+ ["Ashish K", "Mishra"],
+ ["Surender", "Khurana"],
+ ["Victor", "Greiff"],
+ ["Chris D", "Scharer"],
+ ["John M", "Lindner"],
+ ["R Glenn", "King"],
+ ["Mary", "Newell"],
+ ["Arezou", "Khosroshahi"],
+ ["F Eun-Hyung", "Lee"],
+ ["I\u00f1aki", "Sanz"]
+ ],
+ "publisher": "medRxiv : the preprint server for health sciences",
+ "issn": "",
+ "date": "2026-05-18",
+ "abstract": "Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease driven by uncensored B and T cell autoreactivity. Understanding this pathogenic process has been hampered by lack of studies of secondary lymphoid organs in human SLE. Using minimally invasive lymph node fine needle aspirates (LN-FNAs), we profiled tissue-resident immune cells from 59 SLE patients and 34 healthy controls through high-dimensional 43-color flow cytometry, antigen-specific tetramer probing, and sc-RNA sequencing with paired VH/VL repertoire analysis. Our findings reveal hyperactive lymph node immunity in SLE characterized by spontaneous germinal center (GC) activation, plasma cell accumulation enriched in mature CD19",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42238417"
+},
+{
+ "id": "pmid:42231151",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42231151",
+ "title": "Phosphoproteomic profiling reveals post-translational dysregulation in Huntington's disease patient-derived neurons.",
+ "type": "article-journal",
+ "doi": "10.1186/s11658-026-00948-2",
+ "authors": [
+ ["Lea", "Danics"],
+ ["Chandramouli", "Muralidharan"],
+ ["\u00c1gnes", "Varga"],
+ ["Melinda", "Rezeli"],
+ ["Jeovanis", "Gil"],
+ ["Anna A", "Abbas"],
+ ["\u00c1d\u00e1m", "Pap"],
+ ["Andrew S", "Park"],
+ ["Marcell", "Cserhalmi"],
+ ["Emilie M", "Legault"],
+ ["\u00c1rmin", "S\u0151th"],
+ ["Dorina", "Jamniczky"],
+ ["Roland", "Zsoldos"],
+ ["Roger A", "Barker"],
+ ["Gergely", "R\u00f3na"],
+ ["Janelle", "Drouin-Ouellet"],
+ ["Gy\u00f6rgy", "Mark\u00f3-Varga"],
+ ["Zsuzsanna", "Darula"],
+ ["Karolina", "Pircs"]
+ ],
+ "publisher": "Cellular & molecular biology letters",
+ "issn": "1689-1392",
+ "date": "2026-06-02",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the Huntingtin gene. Although transcriptomic and proteomic changes have been characterized in patient-derived neurons, the contribution of post-translational modifications, such as phosphorylation, remains poorly understood. Here, we present the first phosphoproteomic analysis by mass spectrometry (P-MS) of human induced neurons (iNs) directly reprogrammed from HD patient fibroblasts. We identified 177 phosphopeptides with significantly altered abundance in HD-iNs, mapping to phosphoproteins associated with key signaling pathways known to be affected in HD, such as splicing and autophagy. By integrating P-MS data with previously published proteomic and transcriptomic data from the same donors, we identified distinct subsets of ON-OFF phosphopeptides that exhibited a complete loss of phosphorylation in either HD- or control-iNs, without corresponding changes at the RNA or protein level. An exception was MXRA8, previously described in glial cells as a mediator of blood-brain barrier integrity and astrocyte-mediated neuroinflammation. This protein showed increased protein abundance despite the absence of phosphorylation in HD-iNs, suggesting a compensatory mechanism. In addition, MXRA8 showed altered protein-protein interactions with lysosomal and metabolic regulators in HD-iNs, highlighting its potential role in autophagy impairment as well as in neurovascular dysfunction. These findings uncover a distinct layer of post-translational dysregulation in HD, suggesting that phospho-switch proteins such as MXRA8 may be candidate effectors of pathology, and thus, site-specific phosphorylation loss may contribute to impaired signaling and proteostasis in human HD neurons.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42231151"
+},
{
"id": "pmid:42210302",
"manubot_success": true,
@@ -109763,6 +110800,203 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41850723"
},
+{
+ "id": "pmid:41849610",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849610",
+ "title": "Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.",
+ "type": "article-journal",
+ "doi": "10.1126/sciadv.aea8052",
+ "authors": [
+ ["Yuanyi", "Dai"],
+ ["Zuliayeti", "Abudujielili"],
+ ["Yunyi", "Ding"],
+ ["Wanping", "Huang"],
+ ["Jianhang", "Yin"],
+ ["Liqiong", "Ou"],
+ ["Jiazhi", "Hu"],
+ ["Sushuang", "Zheng"],
+ ["Chenjian", "Li"]
+ ],
+ "publisher": "Science advances",
+ "issn": "2375-2548",
+ "date": "2026-03-18",
+ "abstract": "Huntington's disease (HD) is a monogenic autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849610"
+},
+{
+ "id": "pmid:41849583",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849583",
+ "title": "Lowering the",
+ "type": "article-journal",
+ "doi": "10.1126/scitranslmed.adw2495",
+ "authors": [
+ ["Aikaterini Smaragdi", "Papadopoulou"],
+ ["Julia", "Alterman"],
+ ["Christian", "Landles"],
+ ["Edward J", "Smith"],
+ ["Faith", "Conroy"],
+ ["Jemima", "Phillips"],
+ ["Maria", "Canibano-Pico"],
+ ["Iulia M", "Nita"],
+ ["Georgina F", "Osborne"],
+ ["Arzo", "Iqbal"],
+ ["Sarah G", "Aldous"],
+ ["Marie K", "Bondulich"],
+ ["Casandra", "Gomez-Paredes"],
+ ["Kirupa", "Sathasivam"],
+ ["Daniel", "O'Reilly"],
+ ["Dimas", "Echeverria"],
+ ["Konstantin", "Bobkov"],
+ ["Jonathan R", "Greene"],
+ ["Neil", "Aronin"],
+ ["Anastasia", "Khvorova"],
+ ["Gillian P", "Bates"]
+ ],
+ "publisher": "Science translational medicine",
+ "issn": "1946-6242",
+ "date": "2026-03-18",
+ "abstract": "Lowering",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849583"
+},
+{
+ "id": "pmid:41841355",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41841355",
+ "title": "Discovery and Optimization of Thienopyrazine RNA-Splicing Modulators for the Treatment of Huntington's Disease.",
+ "type": "article-journal",
+ "doi": "10.1021/acs.jmedchem.6c00224",
+ "authors": [
+ ["Chaofan", "Xu"],
+ ["Neeta", "Abraham"],
+ ["Nupur", "Bansal"],
+ ["Philippe N", "Bolduc"],
+ ["Patrick", "Cullen"],
+ ["Thomas M", "Carlile"],
+ ["Yirui", "Chen"],
+ ["Colin K", "Choi"],
+ ["Rachelle", "Driscoll"],
+ ["Eric", "Stefan"],
+ ["Christina M", "Gallo"],
+ ["Zhen", "Gao"],
+ ["Catherine L", "Guardado"],
+ ["Guilherme", "Guimaraes"],
+ ["James", "Harvey"],
+ ["Sarah", "Huff"],
+ ["Dann", "Huh"],
+ ["Jessica", "Hurt"],
+ ["Melissa M", "Kemp"],
+ ["Kwang Soo", "Lee"],
+ ["Joon", "Lee"],
+ ["Mukesh", "Lulla"],
+ ["Soumya", "Negi"],
+ ["Marta", "Nevalainen"],
+ ["Emily A", "Peterson"],
+ ["Thomas J", "Purgett"],
+ ["Joseph C", "Santoro"],
+ ["Daniel R", "Smith"],
+ ["Andreas", "Weihofen"],
+ ["Zain", "Yousaf"],
+ ["Magnus", "Pfaffenbach"]
+ ],
+ "publisher": "Journal of medicinal chemistry",
+ "issn": "1520-4804",
+ "date": "2026-03-17",
+ "abstract": "Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG-repeat expansion in the Huntington gene (HTT). Herein, we describe the discovery of a series of HTT pre-mRNA-splicing modulators that promote the inclusion of a cryptic stop codon that in turn lowers levels of mutant Huntington protein (mHTT). Optimization of the starting thienopyridine amide core resulted in the discovery of the potent, CNS-penetrant, selective, and orally bioavailable HTT-splicing modulator BIO-6553. This lead compound is structurally distinct from existing splicing modulators, demonstrated significant HTT-lowering in both human cells and mouse YAC128 models, and has an attractive off-target profile from RASL- and RNA-seq analysis.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41841355"
+},
+{
+ "id": "pmid:41838909",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41838909",
+ "title": "High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.",
+ "type": "article-journal",
+ "doi": "10.1073/pnas.2520462123",
+ "authors": [
+ ["Rebeka", "Fanti"],
+ ["Esther", "Wolf"],
+ ["Tatsuya", "Ikenoue"],
+ ["Justin C", "Deme"],
+ ["Swati", "Balakrishnan"],
+ ["Brandon A", "Keith"],
+ ["Matthew G", "Alteen"],
+ ["Renu", "Chandrasekaran"],
+ ["Manisha", "Yadav"],
+ ["Ritika", "Bhajiawala"],
+ ["Suzanne", "Ackloo"],
+ ["Jia", "Feng"],
+ ["Mahmoud A", "Pouladi"],
+ ["Aled M", "Edwards"],
+ ["Derek J", "Wilson"],
+ ["Susan M", "Lea"],
+ ["Hiroaki", "Suga"],
+ ["Rachel J", "Harding"]
+ ],
+ "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
+ "issn": "1091-6490",
+ "date": "2026-03-16",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a Cytosine-Adenosine-Guanine (CAG) repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41838909"
+},
+{
+ "id": "pmid:41828602",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41828602",
+ "title": "A Two-Track Model of Huntington's Disease Pathology: Striatal Atrophy Mediates Maladaptive Immune Dysregulation.",
+ "type": "article-journal",
+ "doi": "10.3390/ijms27052384",
+ "authors": [
+ ["H Jeremy", "Bockholt"],
+ ["Jordan D", "Clemsen"],
+ ["Bradley T", "Baker"],
+ ["Vince D", "Calhoun"],
+ ["Jane S", "Paulsen"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2026-03-04",
+ "abstract": "Huntington's disease (HD) is characterized by progressive striatal atrophy and complex proteomic changes in the central nervous system. Using the ultrasensitive Next-Gen Ultra-Sensitive Immunoassay (NULISA) proteomic platform, we analyzed cerebrospinal fluid (CSF) from 88 persons with HD to dissect the biological correlates of gray matter loss. Our findings reveal a distinct \"Two-Track\" model of pathology. The first track, marked by the axonal damage protein neurofilament light chain (NEFL), showed a strong inverse correlation with putamen volume (Pearson",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41828602"
+},
+{
+ "id": "pmid:41786746",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41786746",
+ "title": "USP7 deubiquitinase stabilizes FAN1 to support DNA crosslink repair and suppress CAG repeat expansion.",
+ "type": "article-journal",
+ "doi": "10.1038/s41467-026-70051-9",
+ "authors": [
+ ["Giulio", "Collotta"],
+ ["Marco", "Gatti"],
+ ["Irina-Maria", "Ungureanu"],
+ ["Vanessa", "van Ackeren"],
+ ["Emilie", "Rannou"],
+ ["Francesca", "Vivalda"],
+ ["Diego", "Gomez Vieito"],
+ ["Keri M", "Fishwick"],
+ ["Christine", "von Aesch"],
+ ["Antonio", "Porro"],
+ ["Kyra", "Ungerleider"],
+ ["Ailin", "Heidari"],
+ ["Rapha\u00ebl", "Gu\u00e9rois"],
+ ["Rachel J", "Harding"],
+ ["Sylvain", "Bischof"],
+ ["Gabriel", "Balmus"],
+ ["Alessandro A", "Sartori"]
+ ],
+ "publisher": "Nature communications",
+ "issn": "2041-1723",
+ "date": "2026-03-06",
+ "abstract": "Human FAN1 is a structure-specific endonuclease implicated in the repair of DNA interstrand crosslinks (ICLs) and the excision of extrahelical CAG repeats-whose pathological expansion underlies Huntington's disease (HD), a progressive and currently incurable neurodegenerative disorder. However, mechanisms of post-translational regulation of FAN1 are still largely unknown. Here, we identify the ubiquitin-specific protease 7 (USP7) as an interactor of FAN1. USP7 stabilizes FAN1 protein levels in a deubiquitination-dependent manner, preventing FAN1 from proteasomal degradation. Consequently, we demonstrate that USP7 depletion leads to reduced chromatin association of FAN1 and increased cellular hypersensitivity following ICL damage. Moreover, loss of USP7 accelerates CAG repeat expansion in an RPE-1 cell model stably expressing mutant huntingtin (mHTT) exon 1 containing 129 CAG repeats (RPE-1",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41786746"
+},
{
"id": "pmid:41770933",
"manubot_success": true,
@@ -109802,6 +111036,61 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41770933"
},
+{
+ "id": "pmid:41741274",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41741274",
+ "title": "Silmitasertib, an FDA-designated orphan CK2 inhibitor, ameliorates neuropathology and motor dysfunction in a Huntington's disease mouse model.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neurot.2026.e00859",
+ "authors": [
+ ["Ross J", "Pelzel"],
+ ["Miaya", "Herbst"],
+ ["Nicholas B", "Rozema"],
+ ["Melissa A", "Solem"],
+ ["Rocio", "Gomez-Pastor"]
+ ],
+ "publisher": "Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics",
+ "issn": "1878-7479",
+ "date": "2026-02-24",
+ "abstract": "Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease that manifests with progressive motor, cognitive, and psychological impairments. HD is caused by a CAG (glutamine) repeat expansion in the huntingtin (HTT) gene, leading to the misfolding and aggregation of mutant HTT protein (mHTT) and the preferential degeneration of the striatum. Previously in our lab, we identified Protein Kinase CK2 as an important kinase involved in the pathophysiology of HD. Specifically, the levels of the alpha prime catalytic subunit of CK2 (CK2\u03b1') are increased in HD, and genetic depletion of CK2\u03b1' in HD mice results in improved motor behavior, decreased mutant Htt aggregation, and improved neuronal function. Silmitasertib (CX-4945) is an FDA designated orphan drug that inhibits CK2. This study aims to investigate whether CX-4945 treatment ameliorates HD pathology. We treated prodromal and late symptomatic HD mice, and used a variety of immunohistochemical, biochemical, physiological and behavioral approaches. We found that CX-4945 presented benefits in the amelioration of HD pathophysiology in both treated groups. Importantly, we found CX-4945 decreased mHtt aggregation, increased DARPP-32 protein levels and excitatory synapse density, restored homeostatic astrocyte phenotypes and ameliorated neuroinflammation and microgliosis, altogether resulting in improved motor behavior. These results support CX-4945 as a strong candidate for a targeted therapy to treat HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41741274"
+},
+{
+ "id": "pmid:41736445",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/41736445",
+ "title": "The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.1111/bpa.70088",
+ "authors": [
+ ["Sanaz", "Gabery"],
+ ["Sofia", "Bergh"],
+ ["Chrisovalantou", "Huridou"],
+ ["Rachel Y", "Cheong"],
+ ["Barbara", "Baldo"],
+ ["Paul G\u00fcnther", "Scheunemann"],
+ ["Marie-Louisa", "Schoebel"],
+ ["Linda Holmquist", "Mengelbier"],
+ ["Elisabet", "Englund"],
+ ["Catriona", "McLean"],
+ ["Carsten", "Saft"],
+ ["Deniz", "Kirik"],
+ ["Maria", "Bj\u00f6rkqvist"],
+ ["Glenda", "Halliday"],
+ ["Elisabeth", "Petrasch-Parwez"],
+ ["Huu Phuc", "Nguyen"],
+ ["Jonasz Jeremiasz", "Weber"],
+ ["\u00c5sa", "Peters\u00e9n"]
+ ],
+ "publisher": "Brain pathology (Zurich, Switzerland)",
+ "issn": "1750-3639",
+ "date": "2026-02-24",
+ "abstract": "The pathogenic mechanisms leading to neurodegeneration in Huntington disease (HD) are not fully understood but involve accumulation of toxic mRNA and protein products in the brain. Recent studies described an unconventional autophagic pathway involving DNA and RNA degradation through DNautophagy and RNautophagy that is regulated by the lysosomal protein SID1 transmembrane family member 2 (SIDT2). Interestingly, SIDT2 has been shown to bind to the expanded CAG repeat in the mutant huntingtin (mHTT) transcript and lower mHTT in vitro. The aim of the present study was to determine whether SIDT2 levels are altered in HD and whether manipulation of SIDT2-mediated RNautophagy can alter HD pathology. We demonstrate a significant reduction of SIDT2 protein levels in the striatum and in the lateral hypothalamic area in postmortem HD brains compared to control cases without effects on SIDT2 mRNA levels. In frontal cortical postmortem HD tissue, we show a CAG-repeat-length-dependent increase in the frequency of SIDT2-immunoreactive intranuclear inclusions. In postmortem tissue of an HD case with Vonsattel grade 0, we demonstrate SIDT2- and mHTT-immunoreactive inclusions not only in the frontal cortex, but also in the striatum and the lateral hypothalamic area. In the R6/2 mouse model of HD, we show that SIDT2 inclusions form at later stages than mHTT inclusions. Overexpression of SIDT2 using adeno-associated viral vectors injected into the hypothalamus of R6/2 mice led to a reduction of mHTT inclusions in the lateral hypothalamic area. Similarly, in a neuronal cell model, overexpression of SIDT2 reduced soluble and insoluble mHTT exon 1 protein levels. Taken together, our results reveal novel pathology in clinical HD cases and in experimental models, characterized by the accumulation of SIDT2-immunoreactive inclusions, while demonstrating the efficacy of overexpressing SIDT2 for lowering detrimental mHTT species. Targeting SIDT2-mediated RNautophagy may offer a potential strategy to ameliorate the molecular pathology in HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41736445"
+},
{
"id": "pmid:41697960",
"manubot_success": true,
@@ -109977,7 +111266,7 @@
"publisher": "Scientific reports",
"issn": "2045-2322",
"date": "2026-01-16",
- "abstract": "Previous studies have found a markedly reduced risk of cancer among Huntington\u2019s disease (HD) patients with CAG\u2009\u2265\u200940, but data on cancer risk at shorter repeat numbers are lacking. The study includes 8149 subjects from Northern Sweden Health and Disease Study. Genotyping yielded a large number of intermediate allele carriers (IA, CAG",
+ "abstract": "Previous studies have found a markedly reduced risk of cancer among Huntington\u2019s disease (HD) patients with CAG\u2009\u2265\u200940, but data on cancer risk at shorter repeat numbers are lacking. The study includes 8149 subjects from Northern Sweden Health and Disease Study. Genotyping yielded a large number of intermediate allele carriers (IA, CAGn 27\u201335, (n\u2009=\u2009497), normal alleles (CAGn 17\u201326,n\u2009=\u20096584), short alleles (CAG\u2009\u2264\u200916, n\u2009=\u2009169) and 31 subjects with >\u200935 repeats, including reduced penetrance alleles (36\u201339; not guaranteed to suffer HD symptoms during a normal lifespan) and HD alleles\u2009>\u200939. Cancer diagnoses were retrieved from the Swedish Cancer Registry and the Hospital Discharge Registry and death certificates. We used Kaplan-Meier curves and Cox proportional hazard models to estimate the time to cancer, on strata of the population created by CAG repeat number intervals. Smoking status, BMI, as well as alcohol consumption were included in the models. 2735 participants (33.6%) had\u2009\u2265\u20091 cancer type. The Hazard-Ratio (HR) for IA carriers compared with normal alleles was similar, 0.97 CI 0.82\u20131.15). The reduced penetrance allele group (CAGn 36\u201339, n\u2009=\u200929) had HR of 0.54 CI 0.22\u20131.30 similar to what has been reported with a full penetrance allele. Intermediate allele carriers as a group did not have a reduced risk of cancer. It remains possible that reduced penetrance alleles confer lower risk of cancer, with signs of a dose-dependent protective effect of CAG repeat length. The latter finding needs to be confirmed in even larger cohorts as these repeat numbers are relatively rare.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41545439"
},
@@ -110005,7 +111294,7 @@
"publisher": "Orphanet journal of rare diseases",
"issn": "1750-1172",
"date": "2026-01-10",
- "abstract": "Huntington\u2019s disease (HD) is a progressive neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) trinucleotide repeat on chromosome 4. Exploring sex-related differences in disease manifestation may improve understanding and guide more tailored therapeutic and supportive interventions.",
+ "abstract": "INTRODUCTION: Huntington\u2019s disease (HD) is a progressive neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) trinucleotide repeat on chromosome 4. Exploring sex-related differences in disease manifestation may improve understanding and guide more tailored therapeutic and supportive interventions. OBJECTIVE: To investigate sex differences in the clinical presentation and functional outcomes in a single-center HD cohort, including employment status and use of supportive therapies. METHODS: We retrospectively analyzed 102 patients with HD who were regularly seen at the Department of Neurology, Medical University of Innsbruck. Exact CAG repeat length was available for 101 participants. Multinomial logistic regression was applied to assess symptom distribution, access to neurorehabilitation, and the impact on employment status. RESULTS: We included 44 men and 58 women with genetically confirmed Huntington\u2019s Disease. Among participants with available CAG data (n\u2009=\u2009101), there was no difference in CAG-Repeat length between male and female patients as well as no differences in the onset of motor or non-motor symptoms (all p-values\u2009>\u20090.05). We found that irritability was significantly more prevalent in female patients (p\u2009=\u20090.033). Moreover, women were significantly less likely to be employed than men (p\u2009<\u20090.001). No sex differences were observed in the utilization of non-pharmacological therapies such as physiotherapy, occupational therapy, speech therapy, or psychotherapy (p\u2009>\u20090.05). CONCLUSION: Female patients with HD showed higher rates of irritability and lower workforce participation, suggesting clinically relevant sex-related differences. These findings highlight the importance of considering sex as a factor in both clinical management and social support strategies.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41520110"
},
@@ -110357,12 +111646,12 @@
["Jangampalli Adi", "Pradeepkiran"],
["Amardev Rajesh", "Vatapatri"],
["Philip Irwin", "Motakatla"],
- ["Bhragavi", "Pasupuleti"],
+ ["Bhargavi", "Pasupuleti"],
["Manne", "Munikumar"]
],
"publisher": "Current drug targets",
"issn": "1873-5592",
- "date": "2025-10-21",
+ "date": "2026-01-01",
"abstract": "Huntington's disease (HD) is a progressive neurodegenerative disorder caused by the accumulation of mutant huntingtin protein (mHTT) with expanded polyglutamine (polyQ) tracts. These aggregates contribute to neuronal toxicity and disease progression. Targeting aggregation, especially at the N-terminal domain (N17), may offer a therapeutic strategy. This study aims to identify potential small-molecule inhibitors that can bind to aggregation-prone regions of mHTT using computational methods.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41126427"
@@ -114395,6 +115684,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37315918"
},
+{
+ "id": "pmid:37315450",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37315450",
+ "title": "Plasma NfL as a prognostic biomarker for enriching HD-ISS stage 1 categorisation: a cross-sectional study.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ebiom.2023.104646",
+ "authors": [
+ ["Georgia M", "Parkin"],
+ ["Elizabeth A", "Thomas"],
+ ["Jody", "Corey-Bloom"]
+ ],
+ "publisher": "EBioMedicine",
+ "issn": "2352-3964",
+ "date": "2023-06-12",
+ "abstract": "The recently proposed Huntington's Disease Integrated Staging System (HD-ISS) categorises individuals with the Huntintin genetic mutation into disease progression cohorts based on quantitative neuroimaging, cognitive, and functional markers for research purposes. Unfortunately, many research studies do not collect quantitative neuroimaging data, and so the authors of the HD-ISS have subsequently provided approximated cohort thresholds based on disease and clinical data alone. However, these are rough proxies that aim to maximise stage separation, and should not be considered as 1:1 substitutes for the HD-ISS. Notably, no wet biomarker met the stringent criteria required to be considered a landmark for HD-ISS categorisation. We have previously shown that levels of plasma neurofilament light (NfL), a neuronal marker associated with axonal injury, are associated with predicted years to clinical motor diagnosis (CMD). Our objective in the current study was to determine whether HD-ISS categorisation, particularly for stages prior to CMD, could be improved with consideration of plasma NfL levels.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37315450"
+},
{
"id": "pmid:37306313",
"manubot_success": true,
@@ -114525,6 +115833,43 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37199581"
},
+{
+ "id": "pmid:37177784",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/37177784",
+ "title": "Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ymthe.2023.05.006",
+ "authors": [
+ ["Daniel", "O'Reilly"],
+ ["Jillian", "Belgrad"],
+ ["Chantal", "Ferguson"],
+ ["Ashley", "Summers"],
+ ["Ellen", "Sapp"],
+ ["Cassandra", "McHugh"],
+ ["Ella", "Mathews"],
+ ["Adel", "Boudi"],
+ ["Julianna", "Buchwald"],
+ ["Socheata", "Ly"],
+ ["Dimas", "Moreno"],
+ ["Raymond", "Furgal"],
+ ["Eric", "Luu"],
+ ["Zachary", "Kennedy"],
+ ["Vignesh", "Hariharan"],
+ ["Kathryn", "Monopoli"],
+ ["X William", "Yang"],
+ ["Jeffery", "Carroll"],
+ ["Marian", "DiFiglia"],
+ ["Neil", "Aronin"],
+ ["Anastasia", "Khvorova"]
+ ],
+ "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
+ "issn": "1525-0024",
+ "date": "2023-05-12",
+ "abstract": "Huntington's disease (HD) is a severe neurodegenerative disorder caused by the expansion of the CAG trinucleotide repeat tract in the huntingtin gene. Inheritance of expanded CAG repeats is needed for HD manifestation, but further somatic expansion of the repeat tract in non-dividing cells, particularly striatal neurons, hastens disease onset. Called somatic repeat expansion, this process is mediated by the mismatch repair (MMR) pathway. Among MMR components identified as modifiers of HD onset, MutS homolog 3 (MSH3) has emerged as a potentially safe and effective target for therapeutic intervention. Here, we identify a fully chemically modified short interfering RNA (siRNA) that robustly silences Msh3 in\u00a0vitro and in\u00a0vivo. When synthesized in a di-valent scaffold, siRNA-mediated silencing of Msh3 effectively blocked CAG-repeat expansion in the striatum of two HD mouse models without affecting tumor-associated microsatellite instability or mRNA expression of other MMR genes. Our findings establish a promising treatment approach for patients with HD and other repeat expansion diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37177784"
+},
{
"id": "pmid:37162872",
"manubot_success": true,
@@ -114648,6 +115993,40 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36994811"
},
+{
+ "id": "pmid:36958627",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36958627",
+ "title": "Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.",
+ "type": "article-journal",
+ "doi": "10.1016/j.mcpro.2023.100534",
+ "authors": [
+ ["Kizito-Tshitoko", "Tshilenge"],
+ ["Carlos Galicia", "Aguirre"],
+ ["Joanna", "Bons"],
+ ["Akos A", "Gerencser"],
+ ["Nathan", "Basisty"],
+ ["Sicheng", "Song"],
+ ["Jacob", "Rose"],
+ ["Alejandro", "Lopez-Ramirez"],
+ ["Swati", "Naphade"],
+ ["Ashley", "Loureiro"],
+ ["Elena", "Battistoni"],
+ ["Mateus", "Milani"],
+ ["Cameron", "Wehrfritz"],
+ ["Anja", "Holtz"],
+ ["Claudio", "Hetz"],
+ ["Sean D", "Mooney"],
+ ["Birgit", "Schilling"],
+ ["Lisa M", "Ellerby"]
+ ],
+ "publisher": "Molecular & cellular proteomics : MCP",
+ "issn": "1535-9484",
+ "date": "2023-03-22",
+ "abstract": "Huntington's disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion in the Huntingtin (HTT) gene. The resulting polyglutamine (polyQ) tract alters the function of the HTT protein. Although HTT is expressed in different tissues, the medium-spiny projection neurons (MSNs) in the striatum are particularly vulnerable in HD. Thus, we sought to define the proteome of human HD patient-derived MSNs. We differentiated HD72-induced pluripotent stem cells and isogenic controls into MSNs and carried out quantitative proteomic analysis. Using data-dependent acquisitions with FAIMS for label-free quantification on the Orbitrap Lumos mass spectrometer, we identified 6323 proteins with at least two unique peptides. Of these, 901 proteins were altered significantly more in the HD72-MSNs than in isogenic controls. Functional enrichment analysis of upregulated proteins demonstrated extracellular matrix and DNA signaling (DNA replication pathway, double-strand break repair, G1/S transition) with the highest significance. Conversely, processes associated with the downregulated proteins included neurogenesis-axogenesis, the brain-derived neurotrophic factor-signaling pathway, Ephrin-A:EphA pathway, regulation of synaptic plasticity, triglyceride homeostasis cholesterol, plasmid lipoprotein particle immune response, interferon-\u03b3 signaling, immune system major histocompatibility complex, lipid metabolism, and cellular response to stimulus. Moreover, proteins involved in the formation and maintenance of axons, dendrites, and synapses (e.g., septin protein members) were dysregulated in HD72-MSNs. Importantly, lipid metabolism pathways were altered, and using quantitative image analysis, we found that lipid droplets accumulated in the HD72-MSN, suggesting a deficit in the turnover of lipids possibly through lipophagy. Our proteomics analysis of HD72-MSNs identified relevant pathways that are altered in MSNs and confirm current and new therapeutic targets for HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36958627"
+},
{
"id": "pmid:36902304",
"manubot_success": true,
@@ -114769,6 +116148,27 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36793800"
},
+{
+ "id": "pmid:36711022",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36711022",
+ "title": "Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage.",
+ "type": "article-journal",
+ "doi": "10.3389/fphys.2023.1086112",
+ "authors": [
+ ["Fanny L", "Lemari\u00e9"],
+ ["Shaun S", "Sanders"],
+ ["Yen", "Nguyen"],
+ ["Dale D O", "Martin"],
+ ["Michael R", "Hayden"]
+ ],
+ "publisher": "Frontiers in physiology",
+ "issn": "1664-042X",
+ "date": "2023-01-13",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36711022"
+},
{
"id": "pmid:36691277",
"manubot_success": true,
@@ -114842,6 +116242,96 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36599142"
},
+{
+ "id": "pmid:36550260",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36550260",
+ "title": "CRISPR-Cas9 mediated genome editing of Huntington's disease neurospheres.",
+ "type": "article-journal",
+ "doi": "10.1007/s11033-022-08175-6",
+ "authors": [
+ ["Ji Yun", "Han"],
+ ["Jaewoo", "Seo"],
+ ["Yoori", "Choi"],
+ ["Wooseok", "Im"],
+ ["Jae-Jun", "Ban"],
+ ["Jung-Joon", "Sung"]
+ ],
+ "publisher": "Molecular biology reports",
+ "issn": "1573-4978",
+ "date": "2022-12-23",
+ "abstract": "Huntington's disease (HD) is a fatal genetic disease caused by polyglutamine aggregation encoded by an expanded CAG repeat in the huntingtin gene (HTT). In this study, we cultured neurospheres derived from R6/2 mice, a representative animal model of HD, as an in vitro model. GuideRNAs were designed to induce large deletion or frameshift indel mutation of CAG expansion. These gRNAs and Cas9 were delivered to the R6/2 neurospheres and disease-related phenotypes were observed.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36550260"
+},
+{
+ "id": "pmid:36458209",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36458209",
+ "title": "Mutant huntingtin messenger RNA forms neuronal nuclear clusters in rodent and human brains.",
+ "type": "article-journal",
+ "doi": "10.1093/braincomms/fcac248",
+ "authors": [
+ ["Socheata", "Ly"],
+ ["Marie-C\u00e9cile", "Didiot"],
+ ["Chantal M", "Ferguson"],
+ ["Andrew H", "Coles"],
+ ["Rachael", "Miller"],
+ ["Kathryn", "Chase"],
+ ["Dimas", "Echeverria"],
+ ["Feng", "Wang"],
+ ["Ghazaleh", "Sadri-Vakili"],
+ ["Neil", "Aronin"],
+ ["Anastasia", "Khvorova"]
+ ],
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2022-10-13",
+ "abstract": "Mutant messenger RNA (mRNA) and protein contribute to the clinical manifestation of many repeat-associated neurological disorders, with the presence of nuclear RNA clusters being a common pathological feature. Yet, investigations into Huntington's disease-caused by a CAG repeat expansion in exon 1 of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36458209"
+},
+{
+ "id": "pmid:36427954",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36427954",
+ "title": "The microbiota-gut-brain axis in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/bs.irn.2022.06.005",
+ "authors": [
+ ["Chloe J", "Love"],
+ ["Bethany A", "Masson"],
+ ["Carolina", "Gubert"],
+ ["Anthony J", "Hannan"]
+ ],
+ "publisher": "International review of neurobiology",
+ "issn": "2162-5514",
+ "date": "2022-10-28",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36427954"
+},
+{
+ "id": "pmid:36352624",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36352624",
+ "title": "Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.",
+ "type": "article-journal",
+ "doi": "10.4103/0028-3886.359184",
+ "authors": [
+ ["Nikhil", "Ratna"],
+ ["Swathi Lakshmi", "Pasupulati"],
+ ["Ravi K", "Nadella"],
+ ["Meera", "Purushottam"],
+ ["Sanjeev", "Jain"]
+ ],
+ "publisher": "Neurology India",
+ "issn": "1998-4022",
+ "date": "2022-01-01",
+ "abstract": "Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36352624"
+},
{
"id": "pmid:36344508",
"manubot_success": true,
@@ -114866,6 +116356,69 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36344508"
},
+{
+ "id": "pmid:36335527",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335527",
+ "title": "More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.",
+ "type": "article-journal",
+ "doi": "10.1007/s00401-022-02517-1",
+ "authors": [
+ ["Hannah S", "Bakels"],
+ ["Stephanie", "Feleus"],
+ ["Vera", "van Dis"],
+ ["Susanne T", "de Bot"]
+ ],
+ "publisher": "Acta neuropathologica",
+ "issn": "1432-0533",
+ "date": "2022-11-06",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335527"
+},
+{
+ "id": "pmid:36335491",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335491",
+ "title": "Full-Length Transcript Phasing with Third-Generation Sequencing.",
+ "type": "article-journal",
+ "doi": "10.1007/978-1-0716-2819-5_3",
+ "authors": [
+ ["Nenad", "Svrzikapa"],
+ ["Ramakrishna", "Boyanapalli"]
+ ],
+ "publisher": "Methods in molecular biology (Clifton, N.J.)",
+ "issn": "1940-6029",
+ "date": "2023-01-01",
+ "abstract": "Haplotyping individual full-length transcripts can be important in diagnosis and treatment of certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat sequences are the cause of over 40 neurological disorders. In many of these conditions, expanding a polymorphic repeat beyond a given threshold has been strongly associated with disease onset and severity. Given that most repeat expansions are inherited in an autosomal dominant pattern, repeat expansion disorders are typically characterized by a heterozygous expansion locus associated with a single haplotype. Precision genetic medicines can be used to selectively target expansion-containing sequences in a haplotype-specific manner.However, repeat expansion lengths often exceed the capacity of next-generation sequencing (NGS) reads. Therefore, the accurate length and haplotype determination of repeat expansions requires special considerations and requires the development of custom methods. Here we highlight a method for targeted haplotype phasing of the HTT gene, which can be adopted for use with other full-length transcripts and in other repeat expansion disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335491"
+},
+{
+ "id": "pmid:36285345",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36285345",
+ "title": "Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.",
+ "type": "article-journal",
+ "doi": "10.1002/acn3.51673",
+ "authors": [
+ ["Arianna", "Manini"],
+ ["Delia", "Gagliardi"],
+ ["Megi", "Meneri"],
+ ["Sara", "Antognozzi"],
+ ["Roberto", "Del Bo"],
+ ["Cesa", "Scaglione"],
+ ["Giacomo Pietro", "Comi"],
+ ["Stefania", "Corti"],
+ ["Dario", "Ronchi"]
+ ],
+ "publisher": "Annals of clinical and translational neurology",
+ "issn": "2328-9503",
+ "date": "2022-10-25",
+ "abstract": "HTT full-penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian cohort of ALS patients (n\u2009=\u2009467) by repeat-primed polymerase chain reaction. One patient harbored two expanded alleles in the HTT gene (42 and 37 CAG repeats). The absence of HD typical symptoms and the clinical picture consistent with ALS, corroborated by the diagnostic assessment, apparently excluded a misdiagnosis of HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36285345"
+},
{
"id": "pmid:36262216",
"manubot_success": true,
@@ -114947,6 +116500,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36179426"
},
+{
+ "id": "pmid:36130218",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36130218",
+ "title": "Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddac224",
+ "authors": [
+ ["Ainara", "Ruiz de Sabando"],
+ ["Edurne", "Urrutia Lafuente"],
+ ["Arkaitz", "Galbete"],
+ ["Marc", "Ciosi"],
+ ["Ferm\u00edn", "Garc\u00eda Amigot"],
+ ["Virginia", "Garc\u00eda Solaesa"],
+ ["Darren G", "Monckton"],
+ ["Maria A", "Ramos-Arroyo"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2023-03-06",
+ "abstract": "We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of population-based controls (n\u2009=\u2009520) and families with symptomatic individuals referred for HD genetic testing. This group included 331 HD cases and 140 carriers of intermediate alleles. Clinical and family history data were obtained when available. Spanish normal alleles are enriched in C haplotypes (40.1%), whereas A1 (39.8%) and A2 (31.6%) prevail among intermediate and expanded alleles, respectively. Alleles\u2009\u2265\u200950 CAG repeats are primarily associated with haplotypes A2 (38.9%) and C (32%), which are also present in 50% and 21.4%, respectively, of HD families with large intergenerational expansions. Non-canonical variants of exon one sequence are less frequent, but much more diverse, in alleles of \u226527 CAG repeats. The deletion of CAACAG, one of the six rare variants not observed among smaller normal alleles, is associated with haplotype C and appears to correlate with larger intergenerational expansions and early onset of symptoms. Spanish HD haplotypes are characterized by a high genetic diversity, potentially admixed with other non-Caucasian populations, with a higher representation of A2 and C haplotypes than most European populations. Differences in haplotype distributions across the CAG length range support differential germline expansion dynamics, with A2 and C showing the largest intergenerational expansions. This haplotype-dependent germline instability may be driven by specific cis-elements, such as the CAACAG deletion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36130218"
+},
{
"id": "pmid:36099320",
"manubot_success": true,
@@ -114965,6 +116542,47 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36099320"
},
+{
+ "id": "pmid:36098485",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36098485",
+ "title": "Developing HDAC4-Selective Protein Degraders To Investigate the Role of HDAC4 in Huntington's Disease Pathology.",
+ "type": "article-journal",
+ "doi": "10.1021/acs.jmedchem.2c01149",
+ "authors": [
+ ["Natsuko", "Macabuag"],
+ ["William", "Esmieu"],
+ ["Perla", "Breccia"],
+ ["Rebecca", "Jarvis"],
+ ["Wesley", "Blackaby"],
+ ["Ovadia", "Lazari"],
+ ["Liudvikas", "Urbonas"],
+ ["Maria", "Eznarriaga"],
+ ["Rachel", "Williams"],
+ ["Annelieke", "Strijbosch"],
+ ["Rhea", "Van de Bospoort"],
+ ["Kim", "Matthews"],
+ ["Cole", "Clissold"],
+ ["Tammy", "Ladduwahetty"],
+ ["Huw", "Vater"],
+ ["Patrick", "Heaphy"],
+ ["Douglas G", "Stafford"],
+ ["Hong-Jun", "Wang"],
+ ["John E", "Mangette"],
+ ["George", "McAllister"],
+ ["Vahri", "Beaumont"],
+ ["Thomas F", "Vogt"],
+ ["Hilary A", "Wilkinson"],
+ ["Elizabeth M", "Doherty"],
+ ["Celia", "Dominguez"]
+ ],
+ "publisher": "Journal of medicinal chemistry",
+ "issn": "1520-4804",
+ "date": "2022-09-13",
+ "abstract": "Huntington's disease (HD) is a lethal autosomal dominant neurodegenerative disorder resulting from a CAG repeat expansion in the huntingtin (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36098485"
+},
{
"id": "pmid:36087538",
"manubot_success": true,
@@ -115009,6 +116627,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36075537"
},
+{
+ "id": "pmid:36066723",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/36066723",
+ "title": "Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1007/s10815-022-02594-x",
+ "authors": [
+ ["In K", "Cho"],
+ ["Charles A", "Easley"],
+ ["Anthony W S", "Chan"]
+ ],
+ "publisher": "Journal of assisted reproduction and genetics",
+ "issn": "1573-7330",
+ "date": "2022-09-06",
+ "abstract": "Trinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington's disease (HD). A larger TNR instability is predominantly observed in the paternal germ cells in some TNR disorders. Suppressing the expansion during spermatogenesis can provide a unique opportunity to end the vicious cycle of genetic anticipation. Here, using an in vitro differentiation method to derive advanced spermatogenic cells, we investigated the efficacy of two therapeutic agents, araC (cytarabine) and aspirin, on stabilizing TNRs in spermatogenic cells. Two WT patient-derived induced pluripotent stem cell (iPSC) lines and two HD hiPSC lines, with 44 Q and 180 Q, were differentiated into spermatogonial stem cell-like cells (SSCLCs). Both HD cell lines showed CAG tract expansion in SSCLC. When treated with araC and aspirin, HD1 showed moderate but not statistically significant stabilization of TNR. In HD2, 10\u00a0nM of aspirin and araC showed significant stabilization of TNR. All cell lines showed increased DNA damage response (DDR) gene expression in SSCLCs while more genes were significantly induced in HD SSCLC. In HD1, araC and aspirin treatment showed general suppression of DNA damage response genes. In HD2, only FAN1, OGG1, and PCNA showed significant suppression. When the methylation profile of HD cells was analyzed, FAN1 and OGG1 showed significant hypermethylation after the aspirin and araC treatment in SSCLC compared to the control. This study underscores the utility of our in vitro spermatogenesis model to study and develop therapies for TNR disorders such as HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36066723"
+},
{
"id": "pmid:36064847",
"manubot_success": true,
@@ -115412,6 +117049,116 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35580427"
},
+{
+ "id": "pmid:35440014",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35440014",
+ "title": "The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-022-01364-1",
+ "authors": [
+ ["Richard A", "Hickman"],
+ ["Phyllis L", "Faust"],
+ ["Karen", "Marder"],
+ ["Ai", "Yamamoto"],
+ ["Jean-Paul", "Vonsattel"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2022-04-19",
+ "abstract": "Huntington disease is characterized by progressive neurodegeneration, especially of the striatum, and the presence of polyglutamine huntingtin (HTT) inclusions. Although HTT inclusions are most abundant in the neocortex, their neocortical distribution and density in relation to the extent of CAG repeat expansion in the HTT gene and striatal pathologic grade have yet to be formally established. We immunohistochemically studied 65 brains with a pathologic diagnosis of Huntington disease to investigate the cortical distributions and densities of HTT inclusions within the calcarine (BA17), precuneus (BA7), motor (BA4) and prefrontal (BA9) cortices; in 39 of these brains, a p62 immunostain was used for comparison. HTT inclusions predominate in the infragranular cortical layers (layers V-VI) and layer III, however, the densities of HTT inclusions across the human cerebral cortex are not uniform but are instead regionally contingent. The density of HTT and p62 inclusions (intranuclear and extranuclear) in layers V-VI increases caudally to rostrally (BA17\u2009<\u2009BA7\u2009<\u2009BA4\u2009<\u2009BA9) with the median burden of HTT inclusions being 38-fold greater in the prefrontal cortex (BA9) than in the calcarine cortex (BA17). Conversely, intranuclear HTT inclusions prevail in the calcarine cortex irrespective of HTT CAG length. Neocortical HTT inclusion density correlates with CAG repeat expansion, but not with the neuropathologic grade of striatal degeneration (Vonsattel grade) or with the duration of clinical disease since motor onset. Extrapolation of these findings suggest that HTT inclusions are at a regionally-contingent, CAG-dependent, density during the advanced stages of HD. The distribution and density of HTT inclusions in HD therefore does not provide a measure of pathologic disease stage but rather infers the degree of pathogenic HTT expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35440014"
+},
+{
+ "id": "pmid:35395816",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35395816",
+ "title": "Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-022-01349-0",
+ "authors": [
+ ["Lindsey N", "Campion"],
+ ["Alan", "Mejia Maza"],
+ ["Rachita", "Yadav"],
+ ["Ellen B", "Penney"],
+ ["Micaela G", "Murcar"],
+ ["Kevin", "Correia"],
+ ["Tammy", "Gillis"],
+ ["Cara", "Fernandez-Cerado"],
+ ["M Salvie", "Velasco-Andrada"],
+ ["G Paul", "Legarda"],
+ ["Niecy G", "Ganza-Bautista"],
+ ["J Benedict B", "Lagarde"],
+ ["Patrick J", "Acu\u00f1a"],
+ ["Trisha", "Multhaupt-Buell"],
+ ["Gabrielle", "Aldykiewicz"],
+ ["Melanie L", "Supnet"],
+ ["Jan K", "De Guzman"],
+ ["Criscely", "Go"],
+ ["Nutan", "Sharma"],
+ ["Edwin L", "Munoz"],
+ ["Mark C", "Ang"],
+ ["Cid Czarina E", "Diesta"],
+ ["D Cristopher", "Bragg"],
+ ["Laurie J", "Ozelius"],
+ ["Vanessa C", "Wheeler"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2022-04-08",
+ "abstract": "X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. This places XDP in a broader class of repeat expansion diseases, characterized by the instability of their causative repeat mutations. Here, we observe similar inverse correlations between CCCTCT repeat length with age at onset and age at death and no obvious correlation with disease duration. To gain insight into repeat instability in XDP we performed comprehensive quantitative analyses of somatic instability of the XDP CCCTCT repeat in blood and in seventeen brain regions from affected males. Our findings reveal repeat length-dependent and expansion-based instability of the XDP CCCTCT repeat, with greater levels of expansion in brain than in blood. The brain exhibits regional-specific patterns of instability that are broadly similar across individuals, with cerebellum exhibiting low instability and cortical regions exhibiting relatively high instability. The spectrum of somatic instability in the brain includes a high proportion of moderate repeat length changes of up to 5 repeats, as well as expansions of\u2009~\u200920-\u2009>\u2009100 repeats and contractions of\u2009~\u200920-40 repeats at lower frequencies. Comparison with HTT CAG repeat instability in postmortem Huntington's disease brains reveals similar brain region-specific profiles, indicating common trans-acting factors that contribute to the instability of both repeats. Analyses in XDP brains of expansion of a different SVA-associated CCCTCT located in the LIPG gene, and not known to be disease-associated, reveals repeat length-dependent expansion at overall lower levels relative to the XDP CCCTCT repeat, suggesting that expansion propensity may be modified by local chromatin structure. Together, the data support a role for repeat length-dependent somatic expansion in the process(es) driving the onset of XDP and prompt further investigation into repeat dynamics and the relationship to disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35395816"
+},
+{
+ "id": "pmid:35379994",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35379994",
+ "title": "Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.",
+ "type": "article-journal",
+ "doi": "10.1038/s41593-022-01033-5",
+ "authors": [
+ ["Branduff", "McAllister"],
+ ["Jasmine", "Donaldson"],
+ ["Caroline S", "Binda"],
+ ["Sophie", "Powell"],
+ ["Uroosa", "Chughtai"],
+ ["Gareth", "Edwards"],
+ ["Joseph", "Stone"],
+ ["Sergey", "Lobanov"],
+ ["Linda", "Elliston"],
+ ["Laura-Nadine", "Schuhmacher"],
+ ["Elliott", "Rees"],
+ ["Georgina", "Menzies"],
+ ["Marc", "Ciosi"],
+ ["Alastair", "Maxwell"],
+ ["Michael J", "Chao"],
+ ["Eun Pyo", "Hong"],
+ ["Diane", "Lucente"],
+ ["Vanessa", "Wheeler"],
+ ["Jong-Min", "Lee"],
+ ["Marcy E", "MacDonald"],
+ ["Jeffrey D", "Long"],
+ ["Elizabeth H", "Aylward"],
+ ["G Bernhard", "Landwehrmeyer"],
+ ["Anne E", "Rosser"],
+ ["Jane S", "Paulsen"],
+ ["Nigel M", "Williams"],
+ ["James F", "Gusella"],
+ ["Darren G", "Monckton"],
+ ["Nicholas D", "Allen"],
+ ["Peter", "Holmans"],
+ ["Lesley", "Jones"],
+ ["Thomas H", "Massey"]
+ ],
+ "publisher": "Nature neuroscience",
+ "issn": "1546-1726",
+ "date": "2022-04-04",
+ "abstract": "The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity. Variants in FAN1 clustered in its DNA-binding and nuclease domains and were associated predominantly with earlier-onset HD. Nuclease activities of purified variants in vitro correlated with residual age at motor onset of HD. Mutating endogenous FAN1 to a nuclease-inactive form in an induced pluripotent stem cell model of HD led to rates of CAG expansion similar to those observed with complete FAN1 knockout. Together, these data implicate FAN1 nuclease activity in slowing somatic repeat expansion and hence onset of HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35379994"
+},
{
"id": "pmid:35370826",
"manubot_success": true,
@@ -115442,6 +117189,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35370826"
},
+{
+ "id": "pmid:35357736",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35357736",
+ "title": "Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort.",
+ "type": "article-journal",
+ "doi": "10.1111/ene.15340",
+ "authors": [
+ ["Martina", "Petracca"],
+ ["Sonia", "Di Tella"],
+ ["Marcella", "Solito"],
+ ["Paola", "Zinzi"],
+ ["Maria Rita", "Lo Monaco"],
+ ["Giulia", "Di Lazzaro"],
+ ["Paolo", "Calabresi"],
+ ["Maria Caterina", "Silveri"],
+ ["Anna Rita", "Bentivoglio"]
+ ],
+ "publisher": "European journal of neurology",
+ "issn": "1468-1331",
+ "date": "2022-04-17",
+ "abstract": "Huntington's disease (HD) is an autosomal dominant condition caused by CAG-triplet repeat expansions. CAG-triplet repeat expansion is inversely correlated with age of onset in HD and largely determines the clinical features. The aim of this study was to examine the phenotypic and genotypic correlates of late-onset HD (LoHD) and to determine whether LoHD is a more benign expression of HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35357736"
+},
{
"id": "pmid:35275350",
"manubot_success": true,
@@ -115520,6 +117292,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35224162"
},
+{
+ "id": "pmid:35146388",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35146388",
+ "title": "IKK\u03b2 signaling mediates metabolic changes in the hypothalamus of a Huntington disease mouse model.",
+ "type": "article-journal",
+ "doi": "10.1016/j.isci.2022.103771",
+ "authors": [
+ ["Rana", "Soylu-Kucharz"],
+ ["Ali", "Khoshnan"],
+ ["\u00c5sa", "Peters\u00e9n"]
+ ],
+ "publisher": "iScience",
+ "issn": "2589-0042",
+ "date": "2022-01-19",
+ "abstract": "Huntington disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35146388"
+},
{
"id": "pmid:35143966",
"manubot_success": true,
@@ -115548,6 +117339,43 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35143966"
},
+{
+ "id": "pmid:35114102",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35114102",
+ "title": "Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neuron.2022.01.006",
+ "authors": [
+ ["Xiaofeng", "Gu"],
+ ["Jeffrey", "Richman"],
+ ["Peter", "Langfelder"],
+ ["Nan", "Wang"],
+ ["Shasha", "Zhang"],
+ ["Monica", "Ba\u00f1ez-Coronel"],
+ ["Huei-Bin", "Wang"],
+ ["Lucia", "Yang"],
+ ["Lalini", "Ramanathan"],
+ ["Linna", "Deng"],
+ ["Chang Sin", "Park"],
+ ["Christopher R", "Choi"],
+ ["Jeffrey P", "Cantle"],
+ ["Fuying", "Gao"],
+ ["Michelle", "Gray"],
+ ["Giovanni", "Coppola"],
+ ["Gillian P", "Bates"],
+ ["Laura P W", "Ranum"],
+ ["Steve", "Horvath"],
+ ["Christopher S", "Colwell"],
+ ["X William", "Yang"]
+ ],
+ "publisher": "Neuron",
+ "issn": "1097-4199",
+ "date": "2022-02-02",
+ "abstract": "In Huntington's disease (HD), the uninterrupted CAG repeat length, but not the polyglutamine length, predicts disease onset. However, the underlying pathobiology remains unclear. Here, we developed bacterial artificial chromosome (BAC) transgenic mice expressing human mutant huntingtin (mHTT) with uninterrupted, and somatically unstable, CAG repeats that exhibit progressive disease-related phenotypes. Unlike prior mHTT transgenic models with stable, CAA-interrupted, polyglutamine-encoding repeats, BAC-CAG mice show robust striatum-selective nuclear inclusions and transcriptional dysregulation resembling those in murine huntingtin knockin models and HD patients. Importantly, the striatal transcriptionopathy in HD models is significantly correlated with their uninterrupted CAG repeat length but not polyglutamine length. Finally, among the pathogenic entities originating from mHTT genomic transgenes and only present or enriched in the uninterrupted CAG repeat model, somatic CAG repeat instability and nuclear mHTT aggregation are best correlated with early-onset striatum-selective molecular pathogenesis and locomotor and sleep deficits, while repeat RNA-associated pathologies and repeat-associated non-AUG (RAN) translation may play less selective or late pathogenic roles, respectively.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35114102"
+},
{
"id": "pmid:35099257",
"manubot_success": true,
@@ -115568,6 +117396,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35099257"
},
+{
+ "id": "pmid:35095420",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35095420",
+ "title": "Analysis of LINE1 Retrotransposons in Huntington's Disease.",
+ "type": "article-journal",
+ "doi": "10.3389/fncel.2021.743797",
+ "authors": [
+ ["Lavinia", "Floreani"],
+ ["Federico", "Ansaloni"],
+ ["Damiano", "Mangoni"],
+ ["Elena", "Agostoni"],
+ ["Remo", "Sanges"],
+ ["Francesca", "Persichetti"],
+ ["Stefano", "Gustincich"]
+ ],
+ "publisher": "Frontiers in cellular neuroscience",
+ "issn": "1662-5102",
+ "date": "2022-01-14",
+ "abstract": "Transposable elements (TEs) are mobile genetic elements that made up about half the human genome. Among them, the autonomous non-LTR retrotransposon long interspersed nuclear element-1 (L1) is the only currently active TE in mammals and covers about 17% of the mammalian genome. L1s exert their function as structural elements in the genome, as transcribed RNAs to influence chromatin structure and as retrotransposed elements to shape genomic variation in somatic cells. L1s activity has been shown altered in several diseases of the nervous system. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of a CAG repeat in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35095420"
+},
{
"id": "pmid:35058188",
"manubot_success": true,
@@ -115650,6 +117501,229 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35046408"
},
+{
+ "id": "pmid:35036881",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35036881",
+ "title": "Transposable element activation promotes neurodegeneration in a",
+ "type": "article-journal",
+ "doi": "10.1016/j.isci.2021.103702",
+ "authors": [
+ ["Assunta Maria", "Casale"],
+ ["Francesco", "Liguori"],
+ ["Federico", "Ansaloni"],
+ ["Ugo", "Cappucci"],
+ ["Sara", "Finaurini"],
+ ["Giovanni", "Spirito"],
+ ["Francesca", "Persichetti"],
+ ["Remo", "Sanges"],
+ ["Stefano", "Gustincich"],
+ ["Lucia", "Piacentini"]
+ ],
+ "publisher": "iScience",
+ "issn": "2589-0042",
+ "date": "2021-12-28",
+ "abstract": "Huntington's disease (HD) is an autosomal dominant disorder with progressive motor dysfunction and cognitive decline. The disease is caused by a CAG repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35036881"
+},
+{
+ "id": "pmid:38835439",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38835439",
+ "title": "Huntington disease update: new insights into the role of repeat instability in disease pathogenesis.",
+ "type": "article-journal",
+ "doi": "10.1515/medgen-2021-2101",
+ "authors": [
+ ["Larissa", "Arning"],
+ ["Huu Phuc", "Nguyen"]
+ ],
+ "publisher": "Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V",
+ "issn": "1863-5490",
+ "date": "2022-01-12",
+ "abstract": "The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38835439"
+},
+{
+ "id": "pmid:34948242",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34948242",
+ "title": "Identification of Novel Therapeutic Targets for Polyglutamine Diseases That Target Mitochondrial Fragmentation.",
+ "type": "article-journal",
+ "doi": "10.3390/ijms222413447",
+ "authors": [
+ ["Annika", "Traa"],
+ ["Emily", "Machiela"],
+ ["Paige D", "Rudich"],
+ ["Sonja K", "Soo"],
+ ["Megan M", "Senchuk"],
+ ["Jeremy M", "Van Raamsdonk"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2021-12-14",
+ "abstract": "Huntington's disease (HD) is one of at least nine polyglutamine diseases caused by a trinucleotide CAG repeat expansion, all of which lead to age-onset neurodegeneration. Mitochondrial dynamics and function are disrupted in HD and other polyglutamine diseases. While multiple studies have found beneficial effects from decreasing mitochondrial fragmentation in HD models by disrupting the mitochondrial fission protein DRP1, disrupting DRP1 can also have detrimental consequences in wild-type animals and HD models. In this work, we examine the effect of decreasing mitochondrial fragmentation in a neuronal",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34948242"
+},
+{
+ "id": "pmid:34942093",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34942093",
+ "title": "Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ajhg.2021.12.002",
+ "authors": [
+ ["Douglas R", "Langbehn"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "1537-6605",
+ "date": "2021-12-22",
+ "abstract": "It is well known that the length of the CAG trinucleotide expansion of the huntingtin gene is associated with many aspects of Huntington disease progression. These include age of clinical onset and rate of initial progression of disease severity. The relationship between CAG length and survival in Huntington disease is less studied. To address this, we obtained the complete Registry HD database from the European Huntington Disease Network and reanalyzed the time from reported age of disease onset until death. We conducted semiparametric proportional hazards modeling of 8,422 participants who had experienced onset of clinical Huntington disease, either retrospectively or prospectively. Of these, 826 had a recorded age of death. To avoid biased model estimates, retrospective onset ages were represented by left truncation at study entry. After controlling for onset age, which tends to be younger in those with longer CAG repeat lengths, we found that CAG length had a substantial and highly significant influence upon survival time after disease onset. For a fixed age of onset, longer CAG expansions were predictive of shorter survival. This is consistent with other known relationships between CAG length and disease severity. We also show that older onset age predicts shorter lifespan after controlling for CAG length and that the influence of CAG on survival length is substantially greater in women. We demonstrate that apparent contradictions between these and previous analyses of the same data are primarily due to the question of whether to control for clinical onset age in the analysis of time until death.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34942093"
+},
+{
+ "id": "pmid:34884469",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34884469",
+ "title": "C57BL/6 Background Attenuates mHTT Toxicity in the Striatum of YAC128 Mice.",
+ "type": "article-journal",
+ "doi": "10.3390/ijms222312664",
+ "authors": [
+ ["Michaela K", "Back"],
+ ["Johanna", "Kurzawa"],
+ ["Sonia", "Ruggieri"],
+ ["Jakob", "von Engelhardt"]
+ ],
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2021-11-23",
+ "abstract": "Mouse models are frequently used to study Huntington's disease (HD). The onset and severity of neuronal and behavioral pathologies vary greatly between HD mouse models, which results from different huntingtin expression levels and different CAG repeat length. HD pathology appears to depend also on the strain background of mouse models. Thus, behavioral deficits of HD mice are more severe in the FVB than in the C57BL/6 background. Alterations in medium spiny neuron (MSN) morphology and function have been well documented in young YAC128 mice in the FVB background. Here, we tested the relevance of strain background for mutant huntingtin (mHTT) toxicity on the cellular level by investigating HD pathologies in YAC128 mice in the C57BL/6 background (YAC128/BL6). Morphology, spine density, synapse function and membrane properties were not or only subtly altered in MSNs of 12-month-old YAC128/BL6 mice. Despite the mild cellular phenotype, YAC128/BL6 mice showed deficits in motor performance. More pronounced alterations in MSN function were found in the HdhQ150 mouse model in the C57BL/6 background (HdhQ150/BL6). Consistent with the differences in HD pathology, the number of inclusion bodies was considerably lower in YAC128/BL6 mice than HdhQ150/BL6 mice. This study highlights the relevance of strain background for mHTT toxicity in HD mouse models.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34884469"
+},
+{
+ "id": "pmid:34880419",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34880419",
+ "title": "Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1.",
+ "type": "article-journal",
+ "doi": "10.1038/s42003-021-02895-4",
+ "authors": [
+ ["Rachel J", "Harding"],
+ ["Justin C", "Deme"],
+ ["Johannes F", "Hevler"],
+ ["Sem", "Tamara"],
+ ["Alexander", "Lemak"],
+ ["Jeffrey P", "Cantle"],
+ ["Magdalena M", "Szewczyk"],
+ ["Nola", "Begeja"],
+ ["Siobhan", "Goss"],
+ ["Xiaobing", "Zuo"],
+ ["Peter", "Loppnau"],
+ ["Alma", "Seitova"],
+ ["Ashley", "Hutchinson"],
+ ["Lixin", "Fan"],
+ ["Ray", "Truant"],
+ ["Matthieu", "Schapira"],
+ ["Jeffrey B", "Carroll"],
+ ["Albert J R", "Heck"],
+ ["Susan M", "Lea"],
+ ["Cheryl H", "Arrowsmith"]
+ ],
+ "publisher": "Communications biology",
+ "issn": "2399-3642",
+ "date": "2021-12-08",
+ "abstract": "Huntington's disease results from expansion of a glutamine-coding CAG tract in the huntingtin (HTT) gene, producing an aberrantly functioning form of HTT. Both wildtype and disease-state HTT form a hetero-dimer with HAP40 of unknown functional relevance. We demonstrate in vivo and in cell models that HTT and HAP40 cellular abundance are coupled. Integrating data from a 2.6\u2009\u00c5 cryo-electron microscopy structure, cross-linking mass spectrometry, small-angle X-ray scattering, and modeling, we provide a near-atomic-level view of HTT, its molecular interaction surfaces and compacted domain architecture, orchestrated by HAP40. Native mass\u00a0spectrometry reveals a remarkably stable hetero-dimer, potentially explaining the cellular inter-dependence of HTT and HAP40. The exon 1 region of HTT is dynamic but shows greater conformational variety in the polyglutamine expanded mutant than wildtype exon 1. Our data provide a foundation for future functional and drug discovery studies targeting Huntington's disease and illuminate the structural consequences of HTT polyglutamine expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34880419"
+},
+{
+ "id": "pmid:34851867",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34851867",
+ "title": "Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers.",
+ "type": "article-journal",
+ "doi": "10.1097/wnn.0000000000000286",
+ "authors": [
+ ["Rebecca K", "Hendel"],
+ ["Marie N N", "Hellem"],
+ ["Lena E", "Hjermind"],
+ ["J\u00f8rgen E", "Nielsen"],
+ ["Asmus", "Vogel"]
+ ],
+ "publisher": "Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology",
+ "issn": "1543-3641",
+ "date": "2021-12-02",
+ "abstract": "Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial caregiver distress. Research-based evidence of apathy is characterized by methodological differences, and there is a deficiency in the evidence concerning the subtypes of apathy.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34851867"
+},
+{
+ "id": "pmid:34829752",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34829752",
+ "title": "Bone Marrow Microenvironment in Light-Chain Amyloidosis: In Vitro Expansion and Characterization of Mesenchymal Stromal Cells.",
+ "type": "article-journal",
+ "doi": "10.3390/biomedicines9111523",
+ "authors": [
+ ["Chiara", "Valsecchi"],
+ ["Stefania", "Croce"],
+ ["Alice", "Maltese"],
+ ["Lorenza", "Montagna"],
+ ["Elisa", "Lenta"],
+ ["Alice", "Nevone"],
+ ["Maria", "Girelli"],
+ ["Paolo", "Milani"],
+ ["Tiziana", "Bosoni"],
+ ["Margherita", "Massa"],
+ ["Carlotta", "Abb\u00e0"],
+ ["Rita", "Campanelli"],
+ ["Jessica", "Ripepi"],
+ ["Annalisa", "De Silvestri"],
+ ["Adriana", "Carolei"],
+ ["Giovanni", "Palladini"],
+ ["Marco", "Zecca"],
+ ["Mario", "Nuvolone"],
+ ["Maria Antonietta", "Avanzini"]
+ ],
+ "publisher": "Biomedicines",
+ "issn": "2227-9059",
+ "date": "2021-10-22",
+ "abstract": "Immunoglobulin light-chain amyloidosis (AL) is caused by misfolded light chains produced by a small B cell clone. Mesenchymal stromal cells (MSCs) have been reported to affect plasma cell behavior. We aimed to characterize bone marrow (BM)-MSCs from AL patients, considering functional aspects, such as proliferation, differentiation, and immunomodulatory capacities. MSCs were in vitro expanded from the BM of 57 AL patients and 14 healthy donors (HDs). MSC surface markers were analyzed by flow cytometry, osteogenic and adipogenic differentiation capacities were in vitro evaluated, and co-culture experiments were performed in order to investigate MSC immunomodulatory properties towards the ALMC-2 cell line and HD peripheral blood mononuclear cells (PBMCs). AL-MSCs were comparable to HD-MSCs for morphology, immune-phenotype, and differentiation capacities. AL-MSCs showed a reduced proliferation rate, entering senescence at earlier passages than HD-MSCs. The AL-MSC modulatory effect on the plasma-cell line or circulating plasma cells was comparable to that of HD-MSCs. To our knowledge, this is the first study providing a comprehensive characterization of AL-MSCs. It remains to be defined if the observed abnormalities are the consequence of or are involved in the disease pathogenesis. BM microenvironment components in AL may represent the targets for the prevention/treatment of the disease in personalized therapies.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34829752"
+},
+{
+ "id": "pmid:34806402",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34806402",
+ "title": "Efficient and Precise Processing of the Optimized Primary Artificial MicroRNA in a Huntingtin-Lowering Adeno-Associated Viral Gene Therapy",
+ "type": "article-journal",
+ "doi": "10.1089/hum.2021.221",
+ "authors": [
+ ["Wei", "Wang"],
+ ["Pengcheng", "Zhou"],
+ ["Xin", "Wang"],
+ ["Fen", "Chen"],
+ ["Emily", "Christensen"],
+ ["Jeffrey", "Thompson"],
+ ["Xiaoqin", "Ren"],
+ ["Adrian", "Kells"],
+ ["Lisa", "Stanek"],
+ ["Todd", "Carter"],
+ ["Jay", "Hou"],
+ ["Dinah W Y", "Sah"]
+ ],
+ "publisher": "Human gene therapy",
+ "issn": "1557-7422",
+ "date": "2022-01-10",
+ "abstract": "Huntington's disease is a fatal neurodegenerative disorder caused by an inherited mutation in the huntingtin (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34806402"
+},
{
"id": "pmid:34800149",
"manubot_success": true,
@@ -115703,6 +117777,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34747792"
},
+{
+ "id": "pmid:34718701",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34718701",
+ "title": "FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkab899",
+ "authors": [
+ ["Xiaonan", "Zhao"],
+ ["Huiyan", "Lu"],
+ ["Karen", "Usdin"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2021-11-18",
+ "abstract": "The Repeat Expansion Diseases, a large group of human diseases that includes the fragile X-related disorders (FXDs) and Huntington's disease (HD), all result from expansion of a disease-specific microsatellite via a mechanism that is not fully understood. We have previously shown that mismatch repair (MMR) proteins are required for expansion in a mouse model of the FXDs, but that the FANCD2 and FANCI associated nuclease 1 (FAN1), a component of the Fanconi anemia (FA) DNA repair pathway, is protective. FAN1's nuclease activity has been reported to be dispensable for protection against expansion in an HD cell model. However, we show here that in a FXD mouse model a point mutation in the nuclease domain of FAN1 has the same effect on expansion as a null mutation. Furthermore, we show that FAN1 and another nuclease, EXO1, have an additive effect in protecting against MSH3-dependent expansions. Lastly, we show that the loss of FANCD2, a vital component of the Fanconi anemia DNA repair pathway, has no effect on expansions. Thus, FAN1 protects against MSH3-dependent expansions without diverting the expansion intermediates into the canonical FA pathway and this protection depends on FAN1 having an intact nuclease domain.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34718701"
+},
{
"id": "pmid:34681268",
"manubot_success": true,
@@ -115766,6 +117859,109 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34659371"
},
+{
+ "id": "pmid:34658796",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34658796",
+ "title": "Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington's Disease PSC-Derived Striatal Neurons.",
+ "type": "article-journal",
+ "doi": "10.3389/fncel.2021.742763",
+ "authors": [
+ ["Jenny", "Lange"],
+ ["Alison", "Wood-Kaczmar"],
+ ["Aneesa", "Ali"],
+ ["Sahar", "Farag"],
+ ["Rhia", "Ghosh"],
+ ["Jennifer", "Parker"],
+ ["Caroline", "Casey"],
+ ["Yumiko", "Uno"],
+ ["Akiyoshi", "Kunugi"],
+ ["Patrizia", "Ferretti"],
+ ["Ralph", "Andre"],
+ ["Sarah J", "Tabrizi"]
+ ],
+ "publisher": "Frontiers in cellular neuroscience",
+ "issn": "1662-5102",
+ "date": "2021-09-29",
+ "abstract": "Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34658796"
+},
+{
+ "id": "pmid:34631219",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34631219",
+ "title": "Targeting Mitochondrial Network Disorganization is Protective in",
+ "type": "article-journal",
+ "doi": "10.14336/ad.2021.0404",
+ "authors": [
+ ["Emily", "Machiela"],
+ ["Paige D", "Rudich"],
+ ["Annika", "Traa"],
+ ["Ulrich", "Anglas"],
+ ["Sonja K", "Soo"],
+ ["Megan M", "Senchuk"],
+ ["Jeremy M", "Van Raamsdonk"]
+ ],
+ "publisher": "Aging and disease",
+ "issn": "2152-5250",
+ "date": "2021-10-01",
+ "abstract": "Huntington's disease (HD) is an adult-onset neurodegenerative disease caused by a trinucleotide CAG repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34631219"
+},
+{
+ "id": "pmid:34608934",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34608934",
+ "title": "Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects.",
+ "type": "article-journal",
+ "doi": "10.1242/dev.199513",
+ "authors": [
+ ["Szilvia", "Galgoczi"],
+ ["Albert", "Ruzo"],
+ ["Christian", "Markopoulos"],
+ ["Anna", "Yoney"],
+ ["Tien", "Phan-Everson"],
+ ["Shu", "Li"],
+ ["Tomomi", "Haremaki"],
+ ["Jakob J", "Metzger"],
+ ["Fred", "Etoc"],
+ ["Ali H", "Brivanlou"]
+ ],
+ "publisher": "Development (Cambridge, England)",
+ "issn": "1477-9129",
+ "date": "2021-10-05",
+ "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG repeats in the huntingtin gene (HTT). Although HD has been shown to have a developmental component, how early during human embryogenesis the HTT-CAG expansion can cause embryonic defects remains unknown. Here, we demonstrate a specific and highly reproducible CAG length-dependent phenotypic signature in a synthetic model for human gastrulation derived from human embryonic stem cells (hESCs). Specifically, we observed a reduction in the extension of the ectodermal compartment that is associated with enhanced activin signaling. Surprisingly, rather than a cell-autonomous effect, tracking the dynamics of TGF\u03b2 signaling demonstrated that HTT-CAG expansion perturbs the spatial restriction of activin response. This is due to defects in the apicobasal polarization in the context of the polarized epithelium of the 2D gastruloid, leading to ectopic subcellular localization of TGF\u03b2 receptors. This work refines the earliest developmental window for the prodromal phase of HD to the first 2 weeks of human development, as modeled by our 2D gastruloids.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34608934"
+},
+{
+ "id": "pmid:34539331",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34539331",
+ "title": "Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients.",
+ "type": "article-journal",
+ "doi": "10.3389/fnins.2021.695049",
+ "authors": [
+ ["Assunta", "Ingannato"],
+ ["Silvia", "Bagnoli"],
+ ["Salvatore", "Mazzeo"],
+ ["Valentina", "Bessi"],
+ ["Sabrina", "Mat\u00e0"],
+ ["Monica", "Del Mastio"],
+ ["Gemma", "Lombardi"],
+ ["Camilla", "Ferrari"],
+ ["Sandro", "Sorbi"],
+ ["Benedetta", "Nacmias"]
+ ],
+ "publisher": "Frontiers in neuroscience",
+ "issn": "1662-4548",
+ "date": "2021-09-03",
+ "abstract": "To study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34539331"
+},
{
"id": "pmid:34536046",
"manubot_success": true,
@@ -115786,6 +117982,79 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34536046"
},
+{
+ "id": "pmid:34520257",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34520257",
+ "title": "Oligonucleotides Targeting DNA Repeats Downregulate",
+ "type": "article-journal",
+ "doi": "10.1089/nat.2021.0021",
+ "authors": [
+ ["Tea", "Umek"],
+ ["Thomas", "Olsson"],
+ ["Olof", "Gissberg"],
+ ["Osama", "Saher"],
+ ["Eman M", "Zaghloul"],
+ ["Karin E", "Lundin"],
+ ["Jesper", "Wengel"],
+ ["Eric", "Hanse"],
+ ["Henrik", "Zetterberg"],
+ ["Dzeneta", "Vizlin-Hodzic"],
+ ["C I Edvard", "Smith"],
+ ["Rula", "Zain"]
+ ],
+ "publisher": "Nucleic acid therapeutics",
+ "issn": "2159-3345",
+ "date": "2021-09-13",
+ "abstract": "Huntington's disease (HD) is one of the most common, dominantly inherited neurodegenerative disorders. It affects the striatum, cerebral cortex, and other subcortical structures leading to involuntary movement abnormalities, emotional disturbances, and cognitive impairments. HD is caused by a CAG\u2022CTG trinucleotide-repeat expansion in exon 1 of the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34520257"
+},
+{
+ "id": "pmid:34504195",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34504195",
+ "title": "Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates.",
+ "type": "article-journal",
+ "doi": "10.1038/s41598-021-97334-z",
+ "authors": [
+ ["Frank", "Herrmann"],
+ ["Manuela", "Hessmann"],
+ ["Sabine", "Schaertl"],
+ ["Karola", "Berg-Rosseburg"],
+ ["Christopher J", "Brown"],
+ ["Galina", "Bursow"],
+ ["Anass", "Chiki"],
+ ["Andreas", "Ebneth"],
+ ["Miriam", "Gehrmann"],
+ ["Nicole", "Hoeschen"],
+ ["Madlen", "Hotze"],
+ ["Stefanie", "Jahn"],
+ ["Peter D", "Johnson"],
+ ["Vinod", "Khetarpal"],
+ ["Alex", "Kiselyov"],
+ ["Karsten", "Kottig"],
+ ["Stefanie", "Ladewig"],
+ ["Hilal", "Lashuel"],
+ ["Sven", "Letschert"],
+ ["Matthew R", "Mills"],
+ ["Kathrin", "Petersen"],
+ ["Michael E", "Prime"],
+ ["Christoph", "Scheich"],
+ ["Gerhard", "Schmiedel"],
+ ["John", "Wityak"],
+ ["Longbin", "Liu"],
+ ["Celia", "Dominguez"],
+ ["Ignacio", "Mu\u00f1oz-Sanju\u00e1n"],
+ ["Jonathan A", "Bard"]
+ ],
+ "publisher": "Scientific reports",
+ "issn": "2045-2322",
+ "date": "2021-09-09",
+ "abstract": "Huntington's disease (HD) is caused by a CAG trinucleotide repeat expansion in the first exon of the huntingtin (HTT) gene coding for the huntingtin (HTT) protein. The misfolding and consequential aggregation of CAG-expanded mutant HTT (mHTT) underpin HD pathology. Our interest in the life cycle of HTT led us to consider the development of high-affinity small-molecule binders of HTT oligomerized/amyloid-containing species that could serve as either cellular and in vivo imaging tools or potential therapeutic agents. We recently reported the development of PET tracers CHDI-180 and CHDI-626 as suitable for imaging mHTT aggregates, and here we present an in-depth pharmacological investigation of their binding characteristics. We have implemented an array of in vitro and ex vivo radiometric binding assays using recombinant HTT, brain homogenate-derived HTT aggregates, and brain sections from mouse HD models and humans post-mortem to investigate binding affinities and selectivity against other pathological proteins from indications such as Alzheimer's disease and spinocerebellar ataxia 1. Radioligand binding assays and autoradiography studies using brain homogenates and tissue sections from HD mouse models showed that CHDI-180 and CHDI-626 specifically bind mHTT aggregates that accumulate with age and disease progression. Finally, we characterized CHDI-180 and CHDI-626 regarding their off-target selectivity and binding affinity to beta amyloid plaques in brain sections and homogenates from Alzheimer's disease patients.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34504195"
+},
{
"id": "pmid:34492254",
"manubot_success": true,
@@ -115811,6 +118080,135 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34492254"
},
+{
+ "id": "pmid:34473992",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34473992",
+ "title": "DNA polymerase \u03b8 promotes CAG\u2022CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jbc.2021.101144",
+ "authors": [
+ ["Kara Y", "Chan"],
+ ["Xueying", "Li"],
+ ["Janice", "Ortega"],
+ ["Liya", "Gu"],
+ ["Guo-Min", "Li"]
+ ],
+ "publisher": "The Journal of biological chemistry",
+ "issn": "1083-351X",
+ "date": "2021-08-30",
+ "abstract": "Huntington's disease (HD), a neurodegenerative disease characterized by progressive dementia, psychiatric problems, and chorea, is known to be caused by CAG repeat expansions in the HD gene HTT. However, the mechanism of this pathology is not fully understood. The translesion DNA polymerase \u03b8\u00a0(Pol\u03b8) carries a large insertion sequence in its catalytic domain, which has been shown to allow DNA loop-outs in the primer strand. As a result of high levels of oxidative DNA damage in neural cells and Pol\u03b8's subsequent involvement in base excision repair of oxidative DNA damage, we hypothesized that Pol\u03b8 contributes to CAG repeat expansion while repairing oxidative damage within HTT. Here, we performed Pol\u03b8-catalyzed in\u00a0vitro DNA synthesis using various CAG\u2022CTG repeat DNA substrates that are similar to base excision repair intermediates. We show that Pol\u03b8 efficiently extends (CAG)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34473992"
+},
+{
+ "id": "pmid:34469738",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34469738",
+ "title": "FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.celrep.2021.109649",
+ "authors": [
+ ["Robert", "Goold"],
+ ["Joseph", "Hamilton"],
+ ["Thomas", "Menneteau"],
+ ["Michael", "Flower"],
+ ["Emma L", "Bunting"],
+ ["Sarah G", "Aldous"],
+ ["Antonio", "Porro"],
+ ["Jos\u00e9 R", "Vicente"],
+ ["Nicholas D", "Allen"],
+ ["Hilary", "Wilkinson"],
+ ["Gillian P", "Bates"],
+ ["Alessandro A", "Sartori"],
+ ["Konstantinos", "Thalassinos"],
+ ["Gabriel", "Balmus"],
+ ["Sarah J", "Tabrizi"]
+ ],
+ "publisher": "Cell reports",
+ "issn": "2211-1247",
+ "date": "2021-08-31",
+ "abstract": "CAG repeat expansion in the HTT gene drives Huntington's disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of the DNA mismatch repair pathway (MMR), is not defined. Here, we identify a highly conserved SPYF motif at the N terminus of FAN1 that binds to MLH1. Our data support a model where FAN1 has two distinct functions to stabilize CAG repeats. On one hand, it binds MLH1 to restrict its recruitment by MSH3, thus inhibiting the assembly of a functional MMR complex that would otherwise promote CAG repeat expansion. On the other hand, it promotes accurate repair via its nuclease activity. These data highlight a potential avenue for HD therapeutics in attenuating somatic expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34469738"
+},
+{
+ "id": "pmid:34423286",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423286",
+ "title": "A Multi-Study Model-Based Evaluation of the Sequence of Imaging and Clinical Biomarker Changes in Huntington's Disease.",
+ "type": "article-journal",
+ "doi": "10.3389/fdata.2021.662200",
+ "authors": [
+ ["Peter A", "Wijeratne"],
+ ["Eileanoir B", "Johnson"],
+ ["Sarah", "Gregory"],
+ ["Nellie", "Georgiou-Karistianis"],
+ ["Jane S", "Paulsen"],
+ ["Rachael I", "Scahill"],
+ ["Sarah J", "Tabrizi"],
+ ["Daniel C", "Alexander"]
+ ],
+ "publisher": "Frontiers in big data",
+ "issn": "2624-909X",
+ "date": "2021-08-05",
+ "abstract": "Understanding the order and progression of change in biomarkers of neurodegeneration is essential to detect the effects of pharmacological interventions on these biomarkers. In Huntington's disease (HD), motor, cognitive and MRI biomarkers are currently used in clinical trials of drug efficacy. Here for the first time we use directly compare data from three large observational studies of HD (total",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423286"
+},
+{
+ "id": "pmid:34423068",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423068",
+ "title": "Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.",
+ "type": "article-journal",
+ "doi": "10.1177/2329048x211036137",
+ "authors": [
+ ["Ashley A", "Moeller"],
+ ["Marcia V", "Felker"],
+ ["Jennifer A", "Brault"],
+ ["Laura C", "Duncan"],
+ ["Rizwan", "Hamid"],
+ ["Meredith R", "Golomb"]
+ ],
+ "publisher": "Child neurology open",
+ "issn": "2329-048X",
+ "date": "2021-08-05",
+ "abstract": "Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423068"
+},
+{
+ "id": "pmid:34376056",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34376056",
+ "title": "Allele-Specific Knockdown of Mutant Huntingtin Protein via Editing at Coding Region Single Nucleotide Polymorphism Heterozygosities.",
+ "type": "article-journal",
+ "doi": "10.1089/hum.2020.323",
+ "authors": [
+ ["Sarah R", "Oikemus"],
+ ["Edith L", "Pfister"],
+ ["Ellen", "Sapp"],
+ ["Kathryn O", "Chase"],
+ ["Lori A", "Kennington"],
+ ["Edward", "Hudgens"],
+ ["Rachael", "Miller"],
+ ["Lihua Julie", "Zhu"],
+ ["Akanksh", "Chaudhary"],
+ ["Eric O", "Mick"],
+ ["Miguel", "Sena-Esteves"],
+ ["Scot A", "Wolfe"],
+ ["Marian", "DiFiglia"],
+ ["Neil", "Aronin"],
+ ["Michael H", "Brodsky"]
+ ],
+ "publisher": "Human gene therapy",
+ "issn": "1557-7422",
+ "date": "2022-01-01",
+ "abstract": "Huntington's disease (HD) is a devastating, autosomal dominant neurodegenerative disease caused by a trinucleotide repeat expansion in the huntingtin (HTT) gene. Inactivation of the mutant allele by clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 based gene editing offers a possible therapeutic approach for this disease, but permanent disruption of normal HTT function might compromise adult neuronal function. Here, we use a novel HD mouse model to examine allele-specific editing of mutant HTT (mHTT), with a BAC97 transgene expressing mHTT and a YAC18 transgene expressing normal HTT. We achieve allele-specific inactivation of HTT by targeting a protein coding sequence containing a common, heterozygous single nucleotide polymorphism (SNP). The outcome is a marked and allele-selective reduction of mHTT protein in a mouse model of HD. Expression of a single CRISPR-Cas9 nuclease in neurons generated a high frequency of mutations in the targeted HD allele that included both small insertion/deletion (InDel) mutations and viral vector insertions. Thus, allele-specific targeting of InDel and insertion mutations to heterozygous coding region SNPs provides a feasible approach to inactivate autosomal dominant mutations that cause genetic disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34376056"
+},
{
"id": "pmid:34366363",
"manubot_success": true,
@@ -115835,6 +118233,38 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34366363"
},
+{
+ "id": "pmid:34330701",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34330701",
+ "title": "FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.",
+ "type": "article-journal",
+ "doi": "10.1126/sciadv.abf7906",
+ "authors": [
+ ["Antonio", "Porro"],
+ ["Mohiuddin", "Mohiuddin"],
+ ["Christina", "Zurfluh"],
+ ["Vincent", "Spegg"],
+ ["Jingqi", "Dai"],
+ ["Florence", "Iehl"],
+ ["Virginie", "Ropars"],
+ ["Giulio", "Collotta"],
+ ["Keri M", "Fishwick"],
+ ["Nour L", "Mozaffari"],
+ ["Rapha\u00ebl", "Gu\u00e9rois"],
+ ["Josef", "Jiricny"],
+ ["Matthias", "Altmeyer"],
+ ["Jean-Baptiste", "Charbonnier"],
+ ["Christopher E", "Pearson"],
+ ["Alessandro A", "Sartori"]
+ ],
+ "publisher": "Science advances",
+ "issn": "2375-2548",
+ "date": "2021-07-30",
+ "abstract": "FAN1, a DNA structure-specific nuclease, interacts with MLH1, but the repair pathways in which this complex acts are unknown. FAN1 processes DNA interstrand crosslinks (ICLs) and FAN1 variants are modifiers of the neurodegenerative Huntington's disease (HD), presumably by regulating HD-causing CAG repeat expansions. Here, we identify specific amino acid residues in two adjacent FAN1 motifs that are critical for MLH1 binding. Disruption of the FAN1-MLH1 interaction confers cellular hypersensitivity to ICL damage and defective repair of CAG/CTG slip-outs, intermediates of repeat expansion mutations. FAN1-S126 phosphorylation, which hinders FAN1-MLH1 association, is cell cycle-regulated by cyclin-dependent kinase activity and attenuated upon ICL induction. Our data highlight the FAN1-MLH1 complex as a phosphorylation-regulated determinant of ICL response and repeat stability, opening novel paths to modify cancer and neurodegeneration.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34330701"
+},
{
"id": "pmid:34301881",
"manubot_success": true,
@@ -115856,6 +118286,39 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34301881"
},
+{
+ "id": "pmid:34296279",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/34296279",
+ "title": "Immortalized striatal precursor neurons from Huntington's disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddab200",
+ "authors": [
+ ["Sergey S", "Akimov"],
+ ["Mali", "Jiang"],
+ ["Amanda J", "Kedaigle"],
+ ["Nicolas", "Arbez"],
+ ["Leonard O", "Marque"],
+ ["Chelsy R", "Eddings"],
+ ["Paul T", "Ranum"],
+ ["Emma", "Whelan"],
+ ["Anthony", "Tang"],
+ ["Ronald", "Wang"],
+ ["Lauren R", "DeVine"],
+ ["Conover C", "Talbot"],
+ ["Robert N", "Cole"],
+ ["Tamara", "Ratovitski"],
+ ["Beverly L", "Davidson"],
+ ["Ernest", "Fraenkel"],
+ ["Christopher A", "Ross"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2021-11-30",
+ "abstract": "We have previously established induced pluripotent stem cell (iPSC) models of Huntington's disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersome and time consuming, making preparation of large quantities of cells for biochemical or screening assays difficult. Here, we report the generation of immortalized striatal precursor neurons (ISPNs) with normal (33) and expanded (180) CAG repeats from HD iPSCs, differentiated to a phenotype resembling medium spiny neurons (MSN), as a proof of principle for a more tractable patient-derived cell model. For immortalization, we used co-expression of the enzymatic component of telomerase hTERT and conditional expression of c-Myc. ISPNs can be propagated as stable adherent cell lines, and rapidly differentiated into highly homogeneous MSN-like cultures within 2 weeks, as demonstrated by immunocytochemical criteria. Differentiated ISPNs recapitulate major HD-related phenotypes of the parental iPSC model, including brain-derived neurotrophic factor (BDNF)-withdrawal-induced cell death that can be rescued by small molecules previously validated in the parental iPSC model. Proteome and RNA-seq analyses demonstrate separation of HD versus control samples by principal component analysis. We identified several networks, pathways, and upstream regulators, also found altered in HD iPSCs, other HD models, and HD patient samples. HD ISPN lines may be useful for studying HD-related cellular pathogenesis, and for use as a platform for HD target identification and screening experimental therapeutics. The described approach for generation of ISPNs from differentiated patient-derived iPSCs could be applied to a larger allelic series of HD cell lines, and to comparable modeling of other genetic disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34296279"
+},
{
"id": "pmid:34200421",
"manubot_success": true,
@@ -116087,30 +118550,54 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33989290"
},
+{
+ "id": "pmid:33983118",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33983118",
+ "title": "Propensity for somatic expansion increases over the course of life in Huntington disease.",
+ "type": "article-journal",
+ "doi": "10.7554/elife.64674",
+ "authors": [
+ ["Radhia", "Kacher"],
+ ["Fran\u00e7ois-Xavier", "Lejeune"],
+ ["Sandrine", "No\u00ebl"],
+ ["C\u00e9cile", "Cazeneuve"],
+ ["Alexis", "Brice"],
+ ["Sandrine", "Humbert"],
+ ["Alexandra", "Durr"]
+ ],
+ "publisher": "eLife",
+ "issn": "2050-084X",
+ "date": "2021-05-13",
+ "abstract": "Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD mutation carriers over a twenty-year period, along with post-mortem tissue from 15 adults and 7 fetal mutation carriers, to examine somatic expansions at different stages of life. Post-mortem brains, as previously reported, had the greatest expansions, but fetal cortex had virtually none. Somatic instability in blood increased with age, despite blood cells being short-lived compared to neurons, and was driven mostly by CAG repeat length, then by age at sampling and by interaction between these two variables. Expansion rates were higher in symptomatic subjects. These data lend support to a previously proposed computational model of somatic instability-driven disease.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33983118"
+},
{
"id": "pmid:33949657",
+ "manubot_success": false,
+ "link": "https://pubmed.ncbi.nlm.nih.gov/33949657",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33949657']' timed out after 3 seconds"
+},
+{
+ "id": "pmid:33918672",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33949657",
- "title": "Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in HD knock-in animal models.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33918672",
+ "title": "Genetic Screen in Adult Drosophila Reveals That dCBP Depletion in Glial Cells Mitigates Huntington Disease Pathology through a Foxo-Dependent Pathway.",
"type": "article-journal",
- "doi": "10.1093/hmg/ddab129",
+ "doi": "10.3390/ijms22083884",
"authors": [
- ["Dazhang", "Bai"],
- ["Peng", "Yin"],
- ["Yiran", "Zhang"],
- ["Fengwei", "Sun"],
- ["Laiqiang", "Chen"],
- ["Li", "Lin"],
- ["Sen", "Yan"],
- ["Shihua", "Li"],
- ["Xiao-Jiang", "Li"]
+ ["Elodie", "Martin"],
+ ["Raheleh", "Heidari"],
+ ["V\u00e9ronique", "Monnier"],
+ ["Herv\u00e9", "Tricoire"]
],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2021-07-28",
- "abstract": "Our previous work has established a huntingtin knock-in (KI) pig model that displays striatal neuronal loss, allowing us to examine if somatic CAG expansion in striatum accounts for the preferential neurodegeneration in Huntington disease (HD). We found that HD KI pigs do not display somatic CAG expansion in striatum as HD KI mice and that the majority of polyQ repeats in exon 1 HTT in the striatum of HD KI mice are fairly stable. We also found that striatal MSH2 and MLH3, which are involved in DNA repair, are more abundant in mouse brains than pig brains. Consistently inhibiting MSH2 and MLH3 reduced the somatic CAG expansion in HD KI mouse striatum with no influence on neuropathology. Our findings suggest that somatic CAG expansion is species-dependent, occurs in a small fraction of the HD gene in mice, and does not critically contribute to HD neuropathology.",
+ "publisher": "International journal of molecular sciences",
+ "issn": "1422-0067",
+ "date": "2021-04-09",
+ "abstract": "Huntington's disease (HD) is a progressive and fatal autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the first exon of the huntingtin gene (",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33949657"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33918672"
},
{
"id": "pmid:33909994",
@@ -116139,6 +118626,52 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33909994"
},
+{
+ "id": "pmid:33907289",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33907289",
+ "title": "The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction.",
+ "type": "article-journal",
+ "doi": "10.1038/s41598-021-88715-5",
+ "authors": [
+ ["Casandra", "Gomez-Paredes"],
+ ["Michael A", "Mason"],
+ ["Bridget A", "Taxy"],
+ ["Aikaterini S", "Papadopoulou"],
+ ["Paolo", "Paganetti"],
+ ["Gillian P", "Bates"]
+ ],
+ "publisher": "Scientific reports",
+ "issn": "2045-2322",
+ "date": "2021-04-27",
+ "abstract": "Huntington's disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains. We have previously shown that the heat shock response becomes impaired with disease progression in mouse models of HD. The disruption of this inducible arm of the proteostasis network is likely to exacerbate the pathogenesis of this protein-folding disease. To allow a rapid and more comprehensive analysis of the heat shock response, we have developed, and validated, a 16-plex QuantiGene assay that allows the expression of Hsf1 and nine heat shock genes, to be measured directly, and simultaneously, from mouse tissue. We used this QuantiGene assay to show that, following pharmacological activation in vivo, the heat shock response impairment in tibialis anterior, brain hemispheres and striatum was comparable between zQ175 and R6/2 mice. In contrast, although a heat shock impairment could be detected in R6/2 cortex, this was not apparent in the cortex from zQ175 mice. Whilst the mechanism underlying this impairment remains unknown, our data indicated that it is not caused by a reduction in HSF1 levels, as had been reported.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33907289"
+},
+{
+ "id": "pmid:33892278",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33892278",
+ "title": "A series of cases with Huntington-like phenotype and intermediate repeats in HTT.",
+ "type": "article-journal",
+ "doi": "10.1016/j.jns.2021.117452",
+ "authors": [
+ ["Ant\u00eda", "Reguera Acu\u00f1a"],
+ ["Esther", "Su\u00e1rez San Mart\u00edn"],
+ ["Ciara", "Garc\u00eda Fern\u00e1ndez"],
+ ["Santiago", "Fern\u00e1ndez Men\u00e9ndez"],
+ ["Marta", "Bl\u00e1zquez Estrada"],
+ ["Manuel", "Amor\u00edn D\u00edaz"],
+ ["Manuel", "Men\u00e9ndez Gonz\u00e1lez"],
+ ["Victoria", "\u00c1lvarez Mart\u00ednez"]
+ ],
+ "publisher": "Journal of the neurological sciences",
+ "issn": "1878-5883",
+ "date": "2021-04-16",
+ "abstract": "Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33892278"
+},
{
"id": "pmid:33824468",
"manubot_success": true,
@@ -116161,6 +118694,79 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33824468"
},
+{
+ "id": "pmid:33805940",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33805940",
+ "title": "Longitudinal Evaluation of the Effect of Tricyclic Antidepressants and Neuroleptics on the Course of Huntington's Disease-Data from a Real World Cohort.",
+ "type": "article-journal",
+ "doi": "10.3390/brainsci11040413",
+ "authors": [
+ ["Jannis", "Achenbach"],
+ ["Carsten", "Saft"],
+ ["Simon", "Faissner"]
+ ],
+ "publisher": "Brain sciences",
+ "issn": "2076-3425",
+ "date": "2021-03-25",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33805940"
+},
+{
+ "id": "pmid:33766994",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33766994",
+ "title": "Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.",
+ "type": "article-journal",
+ "doi": "10.1212/wnl.0000000000011893",
+ "authors": [
+ ["Branduff", "McAllister"],
+ ["James F", "Gusella"],
+ ["G Bernhard", "Landwehrmeyer"],
+ ["Jong-Min", "Lee"],
+ ["Marcy E", "MacDonald"],
+ ["Michael", "Orth"],
+ ["Anne E", "Rosser"],
+ ["Nigel M", "Williams"],
+ ["Peter", "Holmans"],
+ ["Lesley", "Jones"],
+ ["Thomas H", "Massey"]
+ ],
+ "publisher": "Neurology",
+ "issn": "1526-632X",
+ "date": "2021-03-25",
+ "abstract": "To assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33766994"
+},
+{
+ "id": "pmid:33751106",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33751106",
+ "title": "Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkab152",
+ "authors": [
+ ["Jennie C L", "Roy"],
+ ["Antonia", "Vitalo"],
+ ["Marissa A", "Andrew"],
+ ["Eduarda", "Mota-Silva"],
+ ["Marina", "Kovalenko"],
+ ["Zoe", "Burch"],
+ ["Anh M", "Nhu"],
+ ["Paula E", "Cohen"],
+ ["Ed", "Grabczyk"],
+ ["Vanessa C", "Wheeler"],
+ ["Ricardo", "Mouro Pinto"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2021-04-19",
+ "abstract": "Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are critical drivers of somatic expansion in HD mouse models. Here, we have tested, using genetic and pharmacological approaches, the role of the endonuclease domain of the mismatch repair protein MLH3 in somatic CAG expansion in HD mice and patient cells. A point mutation in the MLH3 endonuclease domain completely eliminated CAG expansion in the brain and peripheral tissues of a HD knock-in mouse model (HttQ111). To test whether the MLH3 endonuclease could be manipulated pharmacologically, we delivered splice switching oligonucleotides in mice to redirect Mlh3 splicing to exclude the endonuclease domain. Splice redirection to an isoform lacking the endonuclease domain was associated with reduced CAG expansion. Finally, CAG expansion in HD patient-derived primary fibroblasts was also significantly reduced by redirecting MLH3 splicing to the endogenous endonuclease domain-lacking isoform. These data indicate the potential of targeting the MLH3 endonuclease domain to slow somatic CAG repeat expansion in HD, a therapeutic strategy that may be applicable across multiple repeat expansion disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33751106"
+},
{
"id": "pmid:33731741",
"manubot_success": true,
@@ -116300,6 +118906,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33681777"
},
+{
+ "id": "pmid:33675499",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33675499",
+ "title": "Small Non-coding RNAs Are Dysregulated in Huntington's Disease Transgenic Mice Independently of the Therapeutic Effects of an Environmental Intervention.",
+ "type": "article-journal",
+ "doi": "10.1007/s12035-021-02342-9",
+ "authors": [
+ ["Celine", "Dubois"],
+ ["Geraldine", "Kong"],
+ ["Harvey", "Tran"],
+ ["Shanshan", "Li"],
+ ["Terence Y", "Pang"],
+ ["Anthony J", "Hannan"],
+ ["Thibault", "Renoir"]
+ ],
+ "publisher": "Molecular neurobiology",
+ "issn": "1559-1182",
+ "date": "2021-03-06",
+ "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin gene. Transcriptomic dysregulations are well-documented in HD and alterations in small non-coding RNAs (sncRNAs), particularly microRNAs (miRNAs), could underpin that phenomenon. Additionally, environmental enrichment (EE), which is used to model a stimulating lifestyle in pre-clinical research, has been shown to ameliorate HD-related symptoms. However, the mechanisms mediating the therapeutic effects of EE remain largely unknown. This study assessed the effect of EE on sncRNA expression in the striatum of female R6/1 transgenic HD mice at 12 weeks (prior to over motor deficits) and 20 weeks (fully symptomatic) of age. When comparing wild-type and R6/1 mice in the standard housing condition, we found 6 and 64 miRNAs that were differentially expressed at 12 and 20 weeks of age, respectively. The 6 miRNAs (miR-132, miR-212, miR-222, miR-1a, miR-467a, and miR-669c) were commonly dysregulated at both time points. Additionally, genotype had minor effects on the levels of other sncRNAs, in particular, 1 piRNA was dysregulated at 12 weeks of age, and at 20 weeks of age 11 piRNAs, 1 tRNA- and 2 snoRNA-derived fragments were altered in HD mice. No difference in the abundance of other sncRNA subtypes, including rRNA- and snRNA- derived fragments, were observed. While EE improved locomotor symptoms in HD, we found no effect of the housing condition on any of the sncRNA populations examined. Our findings show that HD mainly affects miRNAs and has a minor effect on other sncRNA populations. Furthermore, the therapeutic effects of EE are not associated with the rescue of these dysregulated sncRNAs and may therefore exert these experience-dependent effects via other molecular mechanisms.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33675499"
+},
{
"id": "pmid:33611676",
"manubot_success": true,
@@ -116322,6 +118951,27 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33611676"
},
+{
+ "id": "pmid:33606279",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33606279",
+ "title": "An imaging mass spectrometry atlas of lipids in the human neurologically normal and Huntington's disease caudate nucleus.",
+ "type": "article-journal",
+ "doi": "10.1111/jnc.15325",
+ "authors": [
+ ["Mandana", "Hunter"],
+ ["Nicholas J", "Demarais"],
+ ["Richard L M", "Faull"],
+ ["Angus C", "Grey"],
+ ["Maurice A", "Curtis"]
+ ],
+ "publisher": "Journal of neurochemistry",
+ "issn": "1471-4159",
+ "date": "2021-03-08",
+ "abstract": "Huntington's disease (HD) is a fatal disorder associated with germline trinucleotide repeat expansions in the HTT gene and characterised by striatal neurodegeneration. No efficacious interventions are available for HD, highlighting a major unmet medical need. The molecular mechanisms underlying HD are incompletely understood despite its monogenic aetiology. However, direct interactions between HTT and membrane lipids suggest that lipidomic perturbations may be implicated in the neuropathology of HD. In this study, we employed matrix-assisted laser desorption/ionisation imaging mass spectrometry (MALDI-IMS) to generate a comprehensive, unbiased and spatially resolved lipidomic atlas of the caudate nucleus (CN) in human post-mortem tissue from neurologically normal (n\u00a0=\u00a010) and HD (n\u00a0=\u00a013) subjects. Fourier transform-ion cyclotron resonance mass spectrometry and liquid chromatography-tandem mass spectrometry were used for lipid assignment. Lipidomic specialisation was observed in the grey and white matter constituents of the CN and these features were highly conserved between subjects. While the majority of lipid species were highly conserved in HD, compared to age-matched controls, CN specimens from HD cases in our cohort spanning a range of neuropathological grades showed a lower focal abundance of the neuroprotective docosahexaenoic and adrenic acids, several cardiolipins, the ganglioside GM1 and glycerophospholipids with long polyunsaturated fatty acyls. HD cases showed a higher focal abundance of several sphingomyelins and glycerophospholipids with shorter monosaturated fatty acyls. Moreover, we demonstrate that MALDI-IMS is tractable as a primary discovery modality comparing heterogeneous human brain tissue, provided that appropriate statistical approaches are adopted. Our findings support further investigation into the potential role of lipidomic aberrations in HD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33606279"
+},
{
"id": "pmid:33602179",
"manubot_success": true,
@@ -116349,6 +118999,57 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33602179"
},
+{
+ "id": "pmid:33581487",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33581487",
+ "title": "Traffic generated emissions alter the lung microbiota by promoting the expansion of Proteobacteria in C57Bl/6 mice placed on a high-fat diet.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ecoenv.2021.112035",
+ "authors": [
+ ["Sarah", "Daniel"],
+ ["Vaidehi", "Pusadkar"],
+ ["Jacob", "McDonald"],
+ ["Julie", "Mirpuri"],
+ ["Rajeev K", "Azad"],
+ ["Art", "Goven"],
+ ["Amie K", "Lund"]
+ ],
+ "publisher": "Ecotoxicology and environmental safety",
+ "issn": "1090-2414",
+ "date": "2021-02-11",
+ "abstract": "Air pollution has been documented to contribute to severe respiratory diseases like asthma and chronic obstructive pulmonary disorder (COPD). Although these diseases demonstrate a shift in the lung microbiota towards Proteobacteria, the effects of traffic generated emissions on lung microbiota profiles have not been well-characterized. Thus, we investigated the hypothesis that exposure to traffic-generated emissions can alter lung microbiota and immune defenses. Since a large population of the Western world consumes a diet rich in fats, we sought to investigate the synergistic effects of mixed vehicle emissions and high-fat diet consumption. We exposed 3-month-old male C57Bl/6 mice placed either on regular chow (LF) or a high-fat (HF: 45% kcal fat) diet to mixed emissions (ME: 30\u00a0\u00b5g PM/m",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33581487"
+},
+{
+ "id": "pmid:33579864",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/33579864",
+ "title": "Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.",
+ "type": "article-journal",
+ "doi": "10.3233/jhd-200433",
+ "authors": [
+ ["Marc", "Ciosi"],
+ ["Sarah A", "Cumming"],
+ ["Afroditi", "Chatzi"],
+ ["Eloise", "Larson"],
+ ["William", "Tottey"],
+ ["Vilija", "Lomeikaite"],
+ ["Graham", "Hamilton"],
+ ["Vanessa C", "Wheeler"],
+ ["Ricardo Mouro", "Pinto"],
+ ["Seung", "Kwak"],
+ ["A Jennifer", "Morton"],
+ ["Darren G", "Monckton"]
+ ],
+ "publisher": "Journal of Huntington's disease",
+ "issn": "1879-6400",
+ "date": "2021-01-01",
+ "abstract": "Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit \u226536 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is genetically unstable in the soma in a process that preferentially generates somatic expansions, the proportion of which is associated with disease onset, severity and progression. Somatic mosaicism of the HTT CAG repeat has traditionally been assessed by semi-quantitative PCR-electrophoresis approaches that have limitations (e.g., no information about sequence variants). Genotyping-by-sequencing could allow for some of these limitations to be overcome.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33579864"
+},
{
"id": "pmid:33576024",
"manubot_success": true,
@@ -121369,6 +124070,26 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28153533"
},
+{
+ "id": "pmid:28129107",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/28129107",
+ "title": "CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In\u00a0Vitro and In\u00a0Vivo.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ymthe.2016.11.010",
+ "authors": [
+ ["Alex Mas", "Monteys"],
+ ["Shauna A", "Ebanks"],
+ ["Megan S", "Keiser"],
+ ["Beverly L", "Davidson"]
+ ],
+ "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
+ "issn": "1525-0024",
+ "date": "2017-01-04",
+ "abstract": "Huntington disease (HD) is a fatal dominantly inherited neurodegenerative disorder caused by CAG repeat expansion (>36 repeats) within the first exon of the huntingtin gene. Although mutant huntingtin (mHTT) is ubiquitously expressed, the brain shows robust and early degeneration. Current RNA interference-based approaches for lowering mHTT expression have been efficacious in mouse models, but basal mutant protein levels are still detected. To fully mitigate expression from the mutant allele, we hypothesize that allele-specific genome editing can occur via prevalent promoter-resident SNPs in heterozygosity with the mutant allele. Here, we identified SNPs that either cause or destroy PAM motifs critical for CRISPR-selective editing of one allele versus the other in cells from HD patients and in a transgenic HD model harboring the human allele.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28129107"
+},
{
"id": "pmid:28096892",
"manubot_success": true,
@@ -121493,6 +124214,29 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27870408"
},
+{
+ "id": "pmid:27868347",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27868347",
+ "title": "Identification of extreme motor phenotypes in Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1002/ajmg.b.32514",
+ "authors": [
+ ["Ulrike", "Braisch"],
+ ["Birgit", "Hay"],
+ ["Rainer", "Muche"],
+ ["Dietrich", "Rothenbacher"],
+ ["G Bernhard", "Landwehrmeyer"],
+ ["Jeffrey D", "Long"],
+ ["Michael", "Orth"]
+ ],
+ "publisher": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics",
+ "issn": "1552-485X",
+ "date": "2016-11-21",
+ "abstract": "The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats \u226540, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. \u00a9 2016 Wiley Periodicals, Inc.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27868347"
+},
{
"id": "pmid:27818324",
"manubot_success": true,
@@ -121615,6 +124359,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27689620"
},
+{
+ "id": "pmid:27677791",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27677791",
+ "title": "CAG Expansions Are Genetically Stable and Form Nontoxic Aggregates in Cells Lacking Endogenous Polyglutamine Proteins.",
+ "type": "article-journal",
+ "doi": "10.1128/mbio.01367-16",
+ "authors": [
+ ["Ashley A", "Zurawel"],
+ ["Ruth", "Kabeche"],
+ ["Sonja E", "DiGregorio"],
+ ["Lin", "Deng"],
+ ["Kartikeya M", "Menon"],
+ ["Hannah", "Opalko"],
+ ["Martin L", "Duennwald"],
+ ["James B", "Moseley"],
+ ["Surachai", "Supattapone"]
+ ],
+ "publisher": "mBio",
+ "issn": "2150-7511",
+ "date": "2016-09-27",
+ "abstract": "Proteins containing polyglutamine (polyQ) regions are found in almost all eukaryotes, albeit with various frequencies. In humans, proteins such as huntingtin (Htt) with abnormally expanded polyQ regions cause neurodegenerative diseases such as Huntington's disease (HD). To study how the presence of endogenous polyQ aggregation modulates polyQ aggregation and toxicity, we expressed polyQ expanded Htt fragments (polyQ Htt) in Schizosaccharomyces pombe In stark contrast to other unicellular fungi, such as Saccharomyces cerevisiae, S.\u00a0pombe is uniquely devoid of proteins with more than 10 Q repeats. We found that polyQ Htt forms aggregates within S.\u00a0pombe cells only with exceedingly long polyQ expansions. Surprisingly, despite the presence of polyQ Htt aggregates in both the cytoplasm and nucleus, no significant growth defect was observed in S.\u00a0pombe cells. Further, PCR analysis showed that the repetitive polyQ-encoding DNA region remained constant following transformation and after multiple divisions in S.\u00a0pombe, in contrast to the genetic instability of polyQ DNA sequences in other organisms. These results demonstrate that cells with a low content of polyQ or other aggregation-prone proteins can show a striking resilience with respect to polyQ toxicity and that genetic instability of repetitive DNA sequences may have played an important role in the evolutionary emergence and exclusion of polyQ expansion proteins in different organisms.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27677791"
+},
{
"id": "pmid:27662335",
"manubot_success": true,
@@ -121659,6 +124428,28 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27658206"
},
+{
+ "id": "pmid:27639545",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/27639545",
+ "title": "In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.biopha.2016.09.007",
+ "authors": [
+ ["Jo\u00e3o", "Casaca-Carreira"],
+ ["Lodewijk J A", "Toonen"],
+ ["Melvin M", "Evers"],
+ ["Ali", "Jahanshahi"],
+ ["Willeke M C", "van-Roon-Mom"],
+ ["Yasin", "Temel"]
+ ],
+ "publisher": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie",
+ "issn": "1950-6007",
+ "date": "2016-09-16",
+ "abstract": "Huntington's disease (HD) is a progressive autosomal dominant disease, caused by a CAG repeat expansion in the HTT gene, resulting in an expanded polyglutamine stretch at the N-terminal of the huntingtin protein. An important event in HD pathogenesis appears to be the proteolysis of the mutant protein, which forms N-terminal huntingtin fragments. These fragments form insoluble aggregates and are found in nuclei and cytoplasm of affected neurons where they interfere with normal cell functioning. Important cleavage sites are encoded by exon 12 of HTT. A novel approach is Htt protein modification through exon skipping, which has recently been proven effective both in vitro and in vivo. Here we report proof-of-concept of AON 12.1 in vivo using the YAC128 mouse model of HD. Our results support and encourage future longitudinal studies exploring the therapeutic effects of sustained infusions in the YAC128 mouse model.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27639545"
+},
{
"id": "pmid:27611938",
"manubot_success": true,
@@ -122644,6 +125435,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26428929"
},
+{
+ "id": "pmid:26410751",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/26410751",
+ "title": "Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-015-7900-7",
+ "authors": [
+ ["Dawei", "Liu"],
+ ["Jeffrey D", "Long"],
+ ["Ying", "Zhang"],
+ ["Lynn A", "Raymond"],
+ ["Karen", "Marder"],
+ ["Anne", "Rosser"],
+ ["Elizabeth A", "McCusker"],
+ ["James A", "Mills"],
+ ["Jane S", "Paulsen"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "1432-1459",
+ "date": "2015-09-26",
+ "abstract": "Huntington disease (HD) is a neurodegenerative disorder characterized by motor dysfunction, cognitive deterioration, and psychiatric symptoms, with progressive motor impairments being a prominent feature. The primary objectives of this study are to delineate the disease course of motor function in HD, to provide estimates of the onset of motor impairments and motor diagnosis, and to examine the effects of genetic and demographic variables on the progression of motor impairments. Data from an international multisite, longitudinal observational study of 905 prodromal HD participants with cytosine-adenine-guanine (CAG) repeats of at least 36 and with at least two visits during the followup period from 2001 to 2012 was examined for changes in the diagnostic confidence level from the Unified Huntington's Disease Rating Scale. HD progression from unimpaired to impaired motor function, as well as the progression from motor impairment to diagnosis, was associated with the linear effect of age and CAG repeat length. Specifically, for every 1-year increase in age, the risk of transition in diagnostic confidence level increased by 11% (95% CI 7-15%) and for one repeat length increase in CAG, the risk of transition in diagnostic confidence level increased by 47% (95% CI 27-69%). Findings show that CAG repeat length and age increased the likelihood of the first onset of motor impairment as well as the age at diagnosis. Results suggest that more accurate estimates of HD onset age can be obtained by incorporating the current status of diagnostic confidence level into predictive models.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26410751"
+},
{
"id": "pmid:26397897",
"manubot_success": true,
@@ -138419,7 +141235,7 @@
"id": "pmid:41961547",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/41961547",
- "title": "Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.",
+ "title": "Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.",
"type": "article-journal",
"doi": "10.1681/asn.0000001103",
"authors": [
@@ -138428,7 +141244,7 @@
["Kendrah O", "Kidd"],
["V\u00e1clav", "Janou\u0161ek"],
["Martin", "Radina"],
- ["Petr", "Vyle\u0165al"],
+ ["Petr", "Vylet'al"],
["Ibrahim", "Bitar"],
["Viktor", "Str\u00e1neck\u00fd"],
["Lenka", "Steiner-Mr\u00e1zov\u00e1"],
@@ -138471,7 +141287,7 @@
"publisher": "Journal of the American Society of Nephrology : JASN",
"issn": "1533-3450",
"date": "2026-04-10",
- "abstract": "ADTKD-MUC1 is caused by frameshift mutations in the MUC1 gene, producing a frameshifted neoprotein (MUC1fs) toxic to kidney cells. The gene's variable number of tandem repeats (VNTR), with \u223c80% guanine/cytosine content, has made it largely inaccessible to standard short-read sequencing, leaving the reference sequence and natural variation poorly defined and complicating mutation detection.",
+ "abstract": "Single-molecule real-time sequencing with the PacMUC1 script resolved exact MUC1 variable tandem repeat structure and full allelic variation. In 300 individuals, the protocol identified 215 distinct MUC1 tandem repeat alleles with 80 repeat units and nine frameshift mutation types. Probe extension assay identified 90% of families with frameshift mutations, detection of frameshifted mucin-1 aided genetically unresolved cases.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41961547"
},
@@ -138521,7 +141337,7 @@
"publisher": "Scientific reports",
"issn": "2045-2322",
"date": "2025-12-04",
- "abstract": "Variable number tandem repeats (VNTRs) remain among the most challenging regions of the human genome to characterize, due to their repetitive structure and high sequence variability. Short-read sequencing lacks the resolution to span these regions, and even long-read variant callers often fail to resolve true allelic variation due to alignment ambiguity and motif heterogeneity. We present a novel bioinformatics workflow for the analysis of VNTRs from nanopore sequencing data. To our knowledge, it is the first to offer fully automated variant detection, classification of loss-of-function (LoF) variants, and integrated quality control using nanopore sequencing technology. The pipeline separates reads into alleles, constructs reference-free consensus sequences, and aligns motif structures for visualization. LoF variants are identified and reported at their exact position within the repeat. The method was validated using PCR amplicons from reference genomes HG001\u2013HG004 for two genes harboring VNTRs (",
+ "abstract": "Variable number tandem repeats (VNTRs) remain among the most challenging regions of the human genome to characterize, due to their repetitive structure and high sequence variability. Short-read sequencing lacks the resolution to span these regions, and even long-read variant callers often fail to resolve true allelic variation due to alignment ambiguity and motif heterogeneity. We present a novel bioinformatics workflow for the analysis of VNTRs from nanopore sequencing data. To our knowledge, it is the first to offer fully automated variant detection, classification of loss-of-function (LoF) variants, and integrated quality control using nanopore sequencing technology. The pipeline separates reads into alleles, constructs reference-free consensus sequences, and aligns motif structures for visualization. LoF variants are identified and reported at their exact position within the repeat. The method was validated using PCR amplicons from reference genomes HG001\u2013HG004 for two genes harboring VNTRs (ACAN and MUC1), as well as four clinical control samples containing known frameshift mutations in the MUC1 VNTR. We further demonstrate its applicability to whole-genome nanopore datasets. Using our pipeline, it is now possible to completely analyze and characterize VNTRs as well as detect disease-causing variants in a cost and time-efficient manner using amplicon-based nanopore sequencing.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41345522"
},
@@ -138587,6 +141403,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39848530"
},
+{
+ "id": "pmid:39781475",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39781475",
+ "title": "",
+ "type": "article-journal",
+ "doi": "10.1093/ckj/sfae355",
+ "authors": [
+ ["Jeff", "Granh\u00f8j"],
+ ["Dorte L", "Lildballe"],
+ ["Katja V", "Pedersen"],
+ ["Birgitte G", "Tougaard"],
+ ["Martin", "Sokol"],
+ ["Mads M", "Aagaard"],
+ ["Annabeth H", "Petersen"],
+ ["Tilde", "Kristensen"],
+ ["Malene", "Djursby"],
+ ["Henrik", "Birn"],
+ ["Maria", "Rasmussen"]
+ ],
+ "publisher": "Clinical kidney journal",
+ "issn": "2048-8505",
+ "date": "2024-11-18",
+ "abstract": "Frameshift variants in the variable number tandem repeat region of",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39781475"
+},
{
"id": "pmid:39576755",
"manubot_success": true,
@@ -141579,6 +144422,40 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9736780"
},
+{
+ "id": "pmid:42387149",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42387149",
+ "title": "Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.",
+ "type": "article-journal",
+ "doi": "10.1038/s10038-026-01489-4",
+ "authors": [
+ ["Katsuki", "Eguchi"],
+ ["Satoko", "Miyatake"],
+ ["Asako", "Takei"],
+ ["Hiroaki", "Yaguchi"],
+ ["Yuki", "Iida"],
+ ["Shinsuke", "Hamada"],
+ ["Yoshiko", "Ito"],
+ ["Sanae", "Honma"],
+ ["Fumio", "Moriwaka"],
+ ["Taishi", "Wada"],
+ ["Takashi", "Jono"],
+ ["Misako", "Kunii"],
+ ["Hiroyasu", "Komiya"],
+ ["Hitaru", "Kishida"],
+ ["Hiroshi", "Doi"],
+ ["Fumiaki", "Tanaka"],
+ ["Naomichi", "Matsumoto"],
+ ["Ichiro", "Yabe"]
+ ],
+ "publisher": "Journal of human genetics",
+ "issn": "1435-232X",
+ "date": "2026-07-01",
+ "abstract": "Spinocerebellar ataxia type 36 (SCA36)-caused by a GGCCTG hexanucleotide repeat expansion in the NOP56 gene-has traditionally been considered to originate from a founder effect in the Ashida River basin of southern Japan. However, its genetic background remains incompletely understood. In this study, we analyzed five Japanese patients with SCA36 from four unrelated families using long-read sequencing to determine repeat length and reconstruct detailed haplotypes around the NOP56 locus. We successfully resolved extended haplotypes ranging from approximately 90\u2009kb to 1.3\u2009Mb. All five individuals shared a 5.3-kb haplotype adjacent to the repeat expansion, while four patients from northern Japan shared a larger haplotype block of at least 95.2\u2009kb. Comparison with seven previously reported Korean SCA36 cases revealed a shared 4.2-kb haplotype, and available data from other populations were concordant within a\u2009~\u20092.1-kb core region. Notably, the shared 5.3-kb haplotype is relatively common in the general population, suggesting that the underlying core haplotype may represent a permissive haplotypic background rather than a unique founder haplotype. These findings indicate that SCA36 is unlikely to be explained solely by a regional founder in southern Japan. Instead, a shared permissive haplotypic background may underlie repeat expansion, with large pathogenic expansion arising independently in different populations. This pattern may be consistent with a stepwise process of repeat expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42387149"
+},
{
"id": "pmid:41337098",
"manubot_success": true,
@@ -141975,6 +144852,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22492559"
},
+{
+ "id": "pmid:42245955",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42245955",
+ "title": "Case Report: Neuronal intranuclear inclusion disease mimicking recurrent stroke in the setting of intracranial stenosis.",
+ "type": "article-journal",
+ "doi": "10.3389/fmed.2026.1838444",
+ "authors": [
+ ["Jingmin", "Zhao"],
+ ["Guangxun", "Shen"],
+ ["Lumei", "Chi"]
+ ],
+ "publisher": "Frontiers in medicine",
+ "issn": "2296-858X",
+ "date": "2026-05-20",
+ "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder that can present with stroke-like episodes, posing a significant diagnostic challenge. This difficulty is compounded when it coincides with intracranial atherosclerotic stenosis, a common cause of recurrent stroke.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42245955"
+},
{
"id": "pmid:42177789",
"manubot_success": true,
@@ -142060,32 +144956,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42015293"
},
-{
- "id": "pmid:42001002",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42001002",
- "title": "Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansions.",
- "type": "article-journal",
- "doi": "10.1186/s12883-026-04898-2",
- "authors": [
- ["Hang", "Zhang"],
- ["Taiqi", "Zhao"],
- ["Honglin", "Zheng"],
- ["Suying", "Duan"],
- ["Chenyang", "Liu"],
- ["Yaochong", "Zhang"],
- ["Qiang", "Li"],
- ["Han", "Liu"],
- ["Haiyang", "Luo"],
- ["Yuming", "Xu"]
- ],
- "publisher": "BMC neurology",
- "issn": "1471-2377",
- "date": "2026-04-18",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder caused by abnormal GGC repeat expansions in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42001002"
-},
{
"id": "pmid:41964975",
"manubot_success": true,
@@ -142137,29 +145007,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41882342"
},
-{
- "id": "pmid:41862851",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41862851",
- "title": "Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature review.",
- "type": "article-journal",
- "doi": "10.1186/s12883-026-04833-5",
- "authors": [
- ["Linsen", "Ye"],
- ["Yue", "Xu"],
- ["Shuqing", "Meng"],
- ["Genshan", "Gao"],
- ["Yao", "Liu"],
- ["Boyuan", "Ding"],
- ["Nannuan", "Liu"]
- ],
- "publisher": "BMC neurology",
- "issn": "1471-2377",
- "date": "2026-03-20",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challenging due to non-specific presentations, often leading to misdiagnosis. Key diagnostic features include characteristic diffusion-weighted imaging (DWI) abnormalities, eosinophilic intranuclear inclusions on skin biopsy, and GGC repeat expansions in the NOTCH2NLC gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41862851"
-},
{
"id": "pmid:41756172",
"manubot_success": true,
@@ -142226,7 +145073,7 @@
"publisher": "BMC neurology",
"issn": "1471-2377",
"date": "2026-02-13",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized by eosinophilic hyaluronan inclusions in the nervous system and internal organs. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is the most common neurological mitochondrial disease involving multiple organs. The complex and overlapping clinical manifestations of both diseases pose a significant risk for misdiagnosis.",
+ "abstract": "BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized by eosinophilic hyaluronan inclusions in the nervous system and internal organs. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is the most common neurological mitochondrial disease involving multiple organs. The complex and overlapping clinical manifestations of both diseases pose a significant risk for misdiagnosis. CASE PRESENTATION: We present a case of NIID that closely mimicked the phenotype of MELAS. A 60-year-old Chinese man presented with recurrent headaches and cognitive impairment. Upon the first clinical presentation, brain magnetic resonance imaging (MRI) revealed multiple lacunar infarction foci. During the second presentation, the cranial MRI indicated lesions in the left occipital and parietal cortex. Cerebrospinal fluid (CSF) analysis ruled out common infectious, autoimmune, and paraneoplastic etiologies. Screening for Alzheimer\u2019s disease (AD) biomarkers was also unremarkable. Muscle biopsy pathology revealed ragged-red fibers (RRFs), a finding consistent with MELAS. Based on the muscle biopsy findings, a provisional diagnosis of MELAS was made, and the patient received a course of intravenous arginine therapy. However, genetic testing for the NOTCH2NLC gene via capillary electrophoresis identified a heterozygous CGG repeat expansion (15 and 97 repeats), confirming the diagnosis of NIID. CONCLUSIONS: This case highlights the diagnostic challenge in distinguishing NIID from MELAS and underscores the necessity of genetic testing for NOTCH2NLC in patients with compatible phenotypes, even in the presence of MELAS-suggestive features like RRFs.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41688968"
},
@@ -142580,33 +145427,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40267536"
},
-{
- "id": "pmid:39920690",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39920690",
- "title": "uN2CpolyG-mediated p65 nuclear sequestration suppresses the NF-\u03baB-NLRP3 pathway in neuronal intranuclear inclusion disease.",
- "type": "article-journal",
- "doi": "10.1186/s12964-025-02079-1",
- "authors": [
- ["Yu", "Shen"],
- ["Kaiyan", "Jiang"],
- ["Dandan", "Tan"],
- ["Min", "Zhu"],
- ["Yusen", "Qiu"],
- ["Pencheng", "Huang"],
- ["Wenquan", "Zou"],
- ["Jianwen", "Deng"],
- ["Zhaoxia", "Wang"],
- ["Ying", "Xiong"],
- ["Daojun", "Hong"]
- ],
- "publisher": "Cell communication and signaling : CCS",
- "issn": "1478-811X",
- "date": "2025-02-07",
- "abstract": "Neuronal intranuclear inclusion disease (NIID) is genetically linked to CGG repeat expansion in the 5'-untranslated region of the NOTCH2NLC gene, with nascent polyglycine-containing protein (uN2CpolyG) identified as a primary pathogenic factor. Emerging clinical evidence suggests that inflammation contributes to NIID pathogenesis, yet the underlying molecular mechanisms remain elusive. This study aimed to elucidate the molecular interaction between uN2CpolyG and the NF-\u03baB-NLRP3 pathway.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39920690"
-},
{
"id": "pmid:39609868",
"manubot_success": true,
@@ -145483,33 +148303,25 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39176128"
},
{
- "id": "pmid:42157275",
+ "id": "pmid:42387033",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42157275",
- "title": "The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42387033",
+ "title": "Frontotemporal lobar degeneration in a patient carrying a pathogenic PABPN1 expansion.",
"type": "article-journal",
- "doi": "10.1186/s13023-026-04313-6",
+ "doi": "10.1007/s00234-026-04100-x",
"authors": [
- ["Merav", "Ben-David"],
- ["Lior", "Greenbaum"],
- ["Vera", "Nikitn"],
- ["Alex", "Zvulunov"],
- ["Hagit", "Charas"],
- ["Naama", "Divon"],
- ["Tali", "Barkan"],
- ["Odelia", "Chorin"],
- ["Haike", "Reznik-Wolf"],
- ["Ofira", "Zloto"],
- ["Limor", "Benyamini"],
- ["Shahar", "Shelly"],
- ["Amir", "Dori"]
+ ["Ehab Y", "Harahsheh"],
+ ["Bukola A", "Olarewaju"],
+ ["Misha B", "Asif"],
+ ["Bryan K", "Woodruff"],
+ ["Mayowa A", "Osundiji"]
],
- "publisher": "Orphanet journal of rare diseases",
- "issn": "1750-1172",
- "date": "2026-05-19",
- "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the",
+ "publisher": "Neuroradiology",
+ "issn": "1432-1920",
+ "date": "2026-07-02",
+ "abstract": "Expansions in PABPN1 cause oculopharyngeal muscular dystrophy (OPMD), a disorder classically characterized by ptosis, dysphagia, and proximal limb weakness. Cognitive impairment and frontotemporal dysfunction have been reported in selected patients with OPMD, but the relationship between heterozygous PABPN1 expansions and frontotemporal lobar degeneration (FTLD) remains uncertain.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42157275"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42387033"
},
{
"id": "pmid:41764774",
@@ -146674,6 +149486,25 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9084936"
},
+{
+ "id": "pmid:42344868",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42344868",
+ "title": "Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome: Improved Outcome through Early Multidisciplinary Intervention.",
+ "type": "article-journal",
+ "doi": "10.1055/a-2873-6868",
+ "authors": [
+ ["Michal M", "Shalamov"],
+ ["Linsey R", "Cromwell"],
+ ["Pallabi", "Guha"]
+ ],
+ "publisher": "AJP reports",
+ "issn": "2157-6998",
+ "date": "2026-06-02",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42344868"
+},
{
"id": "pmid:41420984",
"manubot_success": true,
@@ -148036,32 +150867,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12036482"
},
-{
- "id": "pmid:42105155",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42105155",
- "title": "Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar Ataxia Type 12.",
- "type": "article-journal",
- "doi": "10.1007/s12311-026-02015-0",
- "authors": [
- ["Rebecca", "Banerjee"],
- ["Swarnava", "Sengupta"],
- ["Jyoti", "Rungta"],
- ["Sabbir", "Ansari"],
- ["Sattwika", "Banerjee"],
- ["Bishmita", "Biswas"],
- ["Rakhi", "Pal"],
- ["Sumantra", "Chattarji"],
- ["Supriyo", "Choudhury"],
- ["Hrishikesh", "Kumar"]
- ],
- "publisher": "Cerebellum (London, England)",
- "issn": "1473-4230",
- "date": "2026-05-09",
- "abstract": "Spinocerebellar ataxia type 12 (SCA12), a progressive neurological disorder, is the second-most common autosomal dominant ataxia in India. The disease is clinically heterogeneous with a variable age-of-onset. A CAG repeat expansion mutation upstream of PPP2R2B gene is causal to SCA12 motor and non-motor symptoms but its pathophysiological significance remains unknown. PPP2R2B encodes for the regulatory subunit B of the protein phosphatase 2\u00a0A (PP2A), a major regulator of amyloid beta (A\u03b2) and tau proteins. We aimed to determine whether PPP2R2B mutation leads to A\u03b2 and tau dysregulation in SCA12. Plasma A\u03b242/A\u03b240 ratio, a core biomarker for A\u03b2 toxicity and cognitive impairment was further investigated. This cross-sectional study included 27 genetically confirmed SCA12 patients and 24 healthy controls. The patients were subjected to ICARS and MoCA clinical scales for disease severity and cognition respectively. Plasma levels for A\u03b242, A\u03b240, total tau (t-tau) and phosphorylated tau (p-tau) levels were estimated spectrophotometrically using validated ELISA kits. A significant decrease in the plasma A\u03b240 level (p\u2009=\u20090.014) and an increase in the A\u03b242/A\u03b240 ratio (p\u2009=\u20090.007) was observed in SCA12. Total tau and p-tau levels were unchanged. No significant correlation of the plasma A\u03b2 and tau proteins with clinical parameters was obtained. In SCA12, we identified an altered plasma A\u03b2 profile indicative of abnormal peripheral amyloidogenesis. Plasma A\u03b2 and tau concentrations were not correlated with the patients' cognitive status. The dynamic ratiometric A\u03b242/A\u03b240 shift in plasma is a forerunner of A\u03b2 neurotoxicity and opens novel avenues for A\u03b2-targeted therapy in SCA12.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42105155"
-},
{
"id": "pmid:41788301",
"manubot_success": true,
@@ -148521,6 +151326,34 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41630927"
},
+{
+ "id": "pmid:42021413",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42021413",
+ "title": "The octapeptide repeats of prion protein play critical roles in the pathogenesis of prion diseases.",
+ "type": "article-journal",
+ "doi": "10.1186/s40478-026-02300-3",
+ "authors": [
+ ["Xiangyi", "Zhang"],
+ ["Jingjing", "Zhang"],
+ ["Yan", "Zhang"],
+ ["Dan", "Wang"],
+ ["Gaixiu", "Liu"],
+ ["Mengfei", "Wang"],
+ ["Chaoyang", "Li"],
+ ["Qi", "Shi"],
+ ["Xiaoping", "Dong"],
+ ["Chonggang", "Yuan"],
+ ["Wenlong", "Li"],
+ ["Jiyan", "Ma"]
+ ],
+ "publisher": "Acta neuropathologica communications",
+ "issn": "2051-5960",
+ "date": "2026-04-22",
+ "abstract": "Prion protein (PrP) is essential for the pathogenicity of prion diseases, a group of fatal neurodegenerative disorders affecting both humans and animals. The octapeptide repeats (OR) of PrP is a highly conserved structural feature; however, conflicting observations\u2014that OR expansion causes inherited prion diseases while being dispensable for prion transmission\u2014obscure its role in these disorders. We developed \u0394OR mice by deleting the OR from the endogenous PrP-encoding gene, PRNP, which resulted in significantly prolonged survival times for mice inoculated with any of the five prion strains. Although disease characteristics were similar between terminally ill \u0394OR and wild-type mice, the aggregation and conversion of PrP to the misfolded PrPSc were substantially delayed in \u0394OR mice. This delay is attributable to reduced OR-OR self-association and diminished interactions between OR and the positively charged N-terminus of PrP. Additionally, the neurotoxic phase of the disease was both delayed and significantly prolonged in \u0394OR mice. Our findings demonstrate the critical roles of OR in both PrP misfolding and neurotoxicity in prion diseases, highlighting OR as a promising therapeutic target that can mitigate both essential pathogenic processes in prion diseases.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42021413"
+},
{
"id": "pmid:41890154",
"manubot_success": true,
@@ -152261,6 +155094,31 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39044557"
},
+{
+ "id": "pmid:42255595",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42255595",
+ "title": "DPHD from",
+ "type": "article-journal",
+ "doi": "10.1021/acsomega.5c08638",
+ "authors": [
+ ["Nittaya", "Boonmuen"],
+ ["Moe Moe", "Paing"],
+ ["Nareerat", "Sutjarit"],
+ ["Pakpoom", "Kheolamai"],
+ ["Sirikul", "Manochantr"],
+ ["Chairat", "Tantrawatpan"],
+ ["Waraluck", "Chaichompoo"],
+ ["Apichart", "Suksamrarn"],
+ ["Duangrat", "Tantikanlayaporn"]
+ ],
+ "publisher": "ACS omega",
+ "issn": "2470-1343",
+ "date": "2026-05-18",
+ "abstract": "Osteoporosis and other degenerative bone disorders are major health burdens, and current therapies are limited in restoring bone regeneration. Human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) offer promise for regenerative medicine, but their clinical potential is restricted by replicative senescence during ex vivo expansion. In this study, we examined the effects of (3",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42255595"
+},
{
"id": "pmid:41468806",
"manubot_success": true,
@@ -152434,6 +155292,30 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19264154"
},
+{
+ "id": "pmid:42276331",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42276331",
+ "title": "Enhanced calcium activity and transcriptomic alterations in iPSC-derived neurons from BAFME patients with repeat expansions.",
+ "type": "article-journal",
+ "doi": "10.1016/j.neures.2026.105080",
+ "authors": [
+ ["Yuki", "Nagasako"],
+ ["Mitsuru", "Ishikawa"],
+ ["Hiroyuki", "Ishiura"],
+ ["Sopak", "Supakul"],
+ ["Sumihiro", "Maeda"],
+ ["Tatsushi", "Toda"],
+ ["Shoji", "Tsuji"],
+ ["Hideyuki", "Okano"]
+ ],
+ "publisher": "Neuroscience research",
+ "issn": "1872-8111",
+ "date": "2026-06-11",
+ "abstract": "Benign adult familial myoclonus epilepsy (BAFME) is caused by intronic TTTCA and TTTTA repeat expansions in SAMD12 and other genes; the neuronal basis of cortical hyperexcitability, however, remains unclear. We generated induced pluripotent stem cell (iPSC)-derived glutamatergic and GABAergic neurons from three BAFME1 patients and examined functional and transcriptomic phenotypes. Patient-derived neurons retained the pathogenic repeat expansions and showed a tendency toward upstream intronic RNA accumulation. Calcium imaging revealed increased spontaneous Ca",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42276331"
+},
{
"id": "pmid:41850906",
"manubot_success": true,
@@ -156550,87 +159432,14 @@
"id": "pmid:42083296",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/42083296",
- "title": "Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project.",
+ "title": "Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project.",
"type": "article-journal",
"doi": "10.1016/j.xhgg.2026.100624",
- "authors": [
- ["Antonio Victor", "Campos Coelho"],
- ["Rafael", "Sales de Albuquerque"],
- ["Catarina Dos Santos", "Gomes"],
- ["Jos\u00e9", "Bandeira do Nascimento Junior"],
- ["Gustavo", "Santos de Oliveira"],
- ["Livia Maria", "Silva Moura"],
- ["Luciana Souto", "Mofatto"],
- ["Rafael Lucas", "Muniz Guedes"],
- ["Rodrigo Ara\u00fajo", "Sequeira Barreiro"],
- ["Marcel Pinheiro", "Caraciolo"],
- ["Ana", "Paula de Andrade Oliveira"],
- ["Anne Caroline", "Barbosa Teixeira"],
- ["Bruna Mascaro", "Cordeiro de Azevedo"],
- ["Carolina Dias", "Carlos"],
- ["Lucas", "Santos de Santana"],
- ["Marina", "Cadena da Matta"],
- ["Matheus Martinelli", "Lima"],
- ["Nuria Bengala", "Zurro"],
- ["Renata Yoshiko", "Yamada"],
- ["Vivian Pedigone", "Cintra"],
- ["Gabriela Pereira", "Campilongo"],
- ["Gabriela Borges", "Cherulli Colichio"],
- ["Renata Martins", "Ribeiro da Silva"],
- ["Caio Robledo", "D'Angioli Costa Quaio"],
- ["Carolina Araujo", "Moreno"],
- ["Eduardo", "Perrone"],
- ["J\u00e9ssica Grasiela", "Ara\u00fajo Espolaor"],
- ["Joana Rosa", "Marques Prota"],
- ["Jos\u00e9 Ricardo", "Magliocco Ceroni"],
- ["Kelin", "Chen"],
- ["Luiza do Amaral", "Virmond"],
- ["Marina", "de Fran\u00e7a Basto Silva"],
- ["Michele Patricia", "Migliavacca"],
- ["Renata Moldenhauer", "Minillo"],
- ["Thiago Yoshinaga", "Tonholo Silva"],
- ["Karla", "de Oliveira Pelegrino"],
- ["Ana Luiza", "Garcia Cunha"],
- ["Joziele", "de Souza Lima"],
- ["Anete Sevciovic", "Grumach"],
- ["Caio Parente", "Barbosa"],
- ["Angelina Xavier", "Acosta"],
- ["Paula Brito", "Corr\u00eaa"],
- ["Denise Pontes", "Cavalcanti"],
- ["Carlos Eduardo", "Steiner"],
- ["Erlane Marques", "Ribeiro"],
- ["Wallace", "William da Silva Meireles"],
- ["Giselle Maria", "Araujo Felix Adjuto"],
- ["Ida Vanessa", "Doederlein Schwartz"],
- ["T\u00eamis Maria", "Felix"],
- ["Irma Cecilia", "Douglas Paes Barreto"],
- ["Antonette", "Souto El Husny"],
- ["Jussara", "Melo de Cerqueira Maia"],
- ["Vera Maria", "Dantas"],
- ["L\u00facia", "Helena de Oliveira Cordeiro"],
- ["Luiza Zagne", "Braz"],
- ["Magda Maria", "Sales Carneiro Sampaio"],
- ["Mara Lucia", "Schmitz Ferreira Santos"],
- ["Marco Antonio", "Curiati"],
- ["Maria", "Teresinha de Oliveira Cardoso"],
- ["Maria Teresa", "Alves da Silva Rosa"],
- ["Mariana Paes", "Leme Ferriani"],
- ["Ester Silveira", "Ramos"],
- ["Paula Teixeira", "Lyra"],
- ["Raquel Tavares", "Boy da Silva"],
- ["Anna C\u00e2ndida", "Ximenes de Mendon\u00e7a Sobreira"],
- ["Tatiana Regia", "Suzana Amorim Boa Sorte"],
- ["Melissa Rossi", "Calv\u00e3o Dumas"],
- ["Tha\u00eds Bomfim", "Teixeira"],
- ["Vandr\u00e9 Cabral", "Gomes Carneiro"],
- ["Patr\u00edcia Silva", "Mota"],
- ["Tatiana", "Ferreira de Almeida"],
- ["Jo\u00e3o Bosco", "Oliveira"]
- ],
+ "authors": [],
"publisher": "HGG advances",
"issn": "2666-2477",
"date": "2026-05-04",
- "abstract": "Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thus facilitating the understanding of the underlying genomic basis of human disorders. We enrolled 10305 patients with suspected rare diseases or hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes were sequenced with short, paired-end reads, and diagnostic reports were provided for 9448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of all positive reports had GS-exclusive findings (e.g. short copy number variants overlapping fewer than three exons, deep intronic variants, short tandem repeats expansions, mitochondrial structural variants - usually not detected by other diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome sequencing (TS) or long-read GS combined with the GS interpretation provided a small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive reports, respectively). Almost 3200 variant/phenotype interpretations were submitted to ClinVar. GS is proving to be an invaluable resource for shortening the diagnostic odyssey of patients with rare diseases, providing crucial genomic diagnostics, and enriching genetic databases with variant interpretations from underrepresented populations. Therefore, GS has the potential to significantly enhance the precision of healthcare in genetically diverse populations.",
+ "abstract": "Genome sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thereby facilitating the understanding of the underlying genomic basis of human disorders. We enrolled 10,305 patients with suspected rare diseases or hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes were sequenced with short, paired-end reads, and diagnostic reports were provided for 9,448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of all positive reports had GS-exclusive findings (e.g., short copy-number variants overlapping fewer than three exons, deep intronic variants, short tandem repeat expansions, and mitochondrial structural variants-usually not detected by other diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome sequencing (TS) or long-read GS combined with GS interpretation provided a small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive reports, respectively). Almost 3,200 variant/phenotype interpretations were submitted to ClinVar. GS is proving to be an invaluable resource for shortening the diagnostic odyssey of patients with rare diseases, providing crucial genomic diagnostics, and enriching genetic databases with variant interpretations from underrepresented populations. Therefore, GS has the potential to significantly enhance the precision of healthcare in genetically diverse populations.",
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42083296"
},
@@ -156702,33 +159511,6 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41024012"
},
-{
- "id": "pmid:40589716",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40589716",
- "title": "Intronic hexanucleotide repeat expansion in",
- "type": "article-journal",
- "doi": "10.3892/br.2025.2016",
- "authors": [
- ["Sunisa", "Kanchanasutthiyakorn"],
- ["Sakchai", "Chaiyamahapurk"],
- ["Siraprapa", "Tongkobpetch"],
- ["Kanokwan", "Santawong"],
- ["Chalurmpon", "Srichomthong"],
- ["Tippayakarn", "Klomchan"],
- ["Chaiyaporn", "Virochsangaroon"],
- ["Monnat", "Pongpanich"],
- ["Prateep", "Warnnissorn"],
- ["Sutatip", "Pongcharoen"],
- ["Vorasuk", "Shotelersuk"]
- ],
- "publisher": "Biomedical reports",
- "issn": "2049-9442",
- "date": "2025-06-12",
- "abstract": "Hyperpigmentation presents a diverse clinical spectrum, largely influenced by genetic factors that remain incompletely understood. The present study describes a case of monozygotic twin girls aged 15 years with congenital progressive universal melanosis (CPUM) born to non-consanguineous unaffected parents. CPUM represents a novel clinical entity characterized by progressive widespread hyperpigmentation beginning at birth, without other accompanying symptoms. Skin biopsy and histopathological analysis were performed, followed by long-read whole-genome sequencing and short tandem repeat analysis. Gene expression was evaluated using reverse transcription-PCR, and protein levels were assessed by western blotting in cultured skin fibroblasts from the twins and unaffected controls. Long-read genome sequencing revealed a biallelic GATGGT repeat expansion of 210-259 repeat units within the third intron of the thymidylate synthase (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40589716"
-},
{
"id": "pmid:40195828",
"manubot_success": true,
@@ -160059,6 +162841,33 @@
"language": "en",
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38128822"
},
+{
+ "id": "pmid:42236257",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42236257",
+ "title": "Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.",
+ "type": "article-journal",
+ "doi": "10.1002/mds.70387",
+ "authors": [
+ ["Annie", "Chen"],
+ ["Udbhav", "Avadhani"],
+ ["Kathie", "Ngo"],
+ ["Rosario I", "Corona"],
+ ["George de V Carvalho", "Neto"],
+ ["Karla P", "Figueroa"],
+ ["Susan", "Perlman"],
+ ["Stefan M", "Pulst"],
+ ["Stanley F", "Nelson"],
+ ["Darice", "Wong"],
+ ["Brent L", "Fogel"]
+ ],
+ "publisher": "Movement disorders : official journal of the Movement Disorder Society",
+ "issn": "1531-8257",
+ "date": "2026-06-03",
+ "abstract": "Spinocerebellar ataxia 4 (SCA4) is a late-onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC-rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods. Development of a high-throughput relatively inexpensive detection method would benefit both clinical diagnostic testing and large-scale research applications.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42236257"
+},
{
"id": "pmid:40459184",
"manubot_success": true,
@@ -160234,4554 +163043,712 @@
"note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40033291"
},
{
- "id": "mondo:0025193",
+ "id": "pmid:19439424",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0025193",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/19439424",
+ "title": "Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.",
+ "type": "article-journal",
+ "doi": "10.1093/brain/awp107",
+ "authors": [
+ ["Eric", "Marsh"],
+ ["Carl", "Fulp"],
+ ["Ernest", "Gomez"],
+ ["Ilya", "Nasrallah"],
+ ["Jeremy", "Minarcik"],
+ ["Jyotsna", "Sudi"],
+ ["Susan L", "Christian"],
+ ["Grazia", "Mancini"],
+ ["Patricia", "Labosky"],
+ ["William", "Dobyns"],
+ ["Amy", "Brooks-Kayal"],
+ ["Jeffrey A", "Golden"]
+ ],
+ "publisher": "Brain : a journal of neurology",
+ "issn": "1460-2156",
+ "date": "2009-05-12",
+ "abstract": "Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice revealed several morphological anomalies, resembling those observed in patients and an interneuron migration defect but perinatal lethality precluded analyses of later phenotypes. Interestingly, many of the neurological phenotypes observed in patients with various ARX mutations can be attributed, in part, to interneuron dysfunction. To directly test this possibility, mice carrying a floxed Arx allele were generated and crossed to Dlx5/6(CRE-IRES-GFP)(Dlx5/6(CIG)) mice, conditionally deleting Arx from ganglionic eminence derived neurons including cortical interneurons. We now report that Arx(-/y);Dlx5/6(CIG) (male) mice exhibit a variety of seizure types beginning in early-life, including seizures that behaviourally and electroencephalographically resembles infantile spasms, and show evolution through development. Thus, this represents a new genetic model of a malignant form of paediatric epilepsy, with some characteristics resembling infantile spasms, caused by mutations in a known infantile spasms gene. Unexpectedly, approximately half of the female mice carrying a single mutant Arx allele (Arx(-/+);Dlx5/6(CIG)) also developed seizures. We also found that a subset of human female carriers have seizures and neurocognitive deficits. In summary, we have identified a previously unrecognized patient population with neurological deficits attributed to ARX mutations that are recapitulated in our mouse model. Furthermore, we show that perturbation of interneuron subpopulations is an important mechanism underling the pathogenesis of developmental epilepsy in both hemizygous males and carrier females. Given the frequency of ARX mutations in patients with infantile spasms and related disorders, our data unveil a new model for further understanding the pathogenesis of these disorders.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0025193"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19439424"
},
{
- "id": "mondo:0010659",
+ "id": "pmid:7778850",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010659",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/7778850",
+ "title": "Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.410370610",
+ "authors": [
+ ["T", "Ikeuchi"],
+ ["R", "Koide"],
+ ["H", "Tanaka"],
+ ["O", "Onodera"],
+ ["S", "Igarashi"],
+ ["H", "Takahashi"],
+ ["R", "Kondo"],
+ ["A", "Ishikawa"],
+ ["A", "Tomoda"],
+ ["T", "Miike"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "0364-5134",
+ "date": "1995-06-01",
+ "abstract": "Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 was recently identified as the pathogenic mutation for this disease. We investigated how the degree of expansion of the CAG repeat effects the clinical manifestations of dentatorubral-pallidoluysian atrophy. The size of the expanded alleles was well correlated with the age at onset (r = -0.696, p < 0.001). Patients with the progressive myoclonus epilepsy phenotype had larger expansions (62-79 repeats) and an earlier age at onset (onset before age 21). Furthermore, most of the patients with the progressive myoclonus epilepsy phenotype inherited their expanded alleles from their affected fathers. On the other hand, patients with the non-progressive myoclonus epilepsy phenotype showed smaller expansions (54-67 repeats) and a later age at onset (onset at or after age 21). Detailed analyses of clinical features demonstrated that ataxia, involuntary movement of either myoclonus or choreoathetosis, and intellectual decline are cardinal features of dentatorubral-pallidoluysian atrophy, with myoclonus and epilepsy being observed more frequently in patients with an earlier age at onset. Thus the wide variation in clinical manifestations of dentatorubral-pallidoluysian atrophy can now be clearly explained based on the degree of CAG repeat expansion, which strongly indicates that the expanded alleles are intimately involved in the neuronal degeneration in dentatofugal and pallidofugal systems.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010659"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7778850"
},
{
- "id": "mondo:0010735",
+ "id": "pmid:30933216",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010735",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30933216",
+ "title": "Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.",
+ "type": "article-journal",
+ "doi": "10.1001/jamaneurol.2019.0423",
+ "authors": [
+ ["Sarah L", "Gardiner"],
+ ["Merel W", "Boogaard"],
+ ["Stella", "Trompet"],
+ ["Ren\u00e9e", "de Mutsert"],
+ ["Frits R", "Rosendaal"],
+ ["Jacobijn", "Gussekloo"],
+ ["J Wouter", "Jukema"],
+ ["Raymund A C", "Roos"],
+ ["N Ahmad", "Aziz"]
+ ],
+ "publisher": "JAMA neurology",
+ "issn": "2168-6157",
+ "date": "2019-06-01",
+ "abstract": "Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010735"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30933216"
},
{
- "id": "mondo:0010654",
+ "id": "pmid:39096063",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010654",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39096063",
+ "title": "Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.27032",
+ "authors": [
+ ["Teije H", "van Prooije"],
+ ["Kirsten C J", "Kapteijns"],
+ ["Jack J A", "van Asten"],
+ ["Joanna", "IntHout"],
+ ["Marcel M", "Verbeek"],
+ ["Tom W J", "Scheenen"],
+ ["Bart P", "van de Warrenburg"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "1531-8249",
+ "date": "2024-08-03",
+ "abstract": "Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant neurodegenerative disease. Objective surrogate markers sensitive to detect changes in disease severity are needed to reduce sample sizes in interventional trials and identification of predictors of faster disease progression would facilitate patient selection, enrichment, or stratification in such trials.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010654"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39096063"
},
{
- "id": "mondo:0007435",
+ "id": "pmid:20502998",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007435",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/20502998",
+ "title": "Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6.",
+ "type": "article-journal",
+ "doi": "10.1007/s12311-010-0183-8",
+ "authors": [
+ ["Ina", "Klinke"],
+ ["Martina", "Minnerop"],
+ ["Tanja", "Schmitz-H\u00fcbsch"],
+ ["Marc", "Hendriks"],
+ ["Thomas", "Klockgether"],
+ ["Ullrich", "W\u00fcllner"],
+ ["Christoph", "Helmstaedter"]
+ ],
+ "publisher": "Cerebellum (London, England)",
+ "issn": "1473-4230",
+ "date": "2010-09-01",
+ "abstract": "A subtype-specific impairment of cognitive functions in spinocerebellar ataxia (SCA) patients is still debated. Thirty-two SCA patients (SCA1, 6; SC2, 3; SCA3, 15; SCA6, 8) and 14 matched healthy controls underwent neuropsychological evaluation testing attention, executive functions, episodic and semantic memory, and motor coordination. Severity of ataxia was assessed with the Scale for the Assessment and Rating of Ataxia (SARA), nonataxia symptoms with the Inventory of Non-Ataxia Symptoms. Depressive symptoms were evaluated with the Beck Depression Inventory. The SARA scores of our SCA patients (range 1-19.5) indicated an overall moderate ataxia, most pronounced in SCA6 and SCA1. Mean number of nonataxia symptoms (range 0-2.2) were most distinct in SCA1 and nearly absent in SCA6. SCA1 performed poorer than controls in 33% of all cognitive test parameters, followed by SCA2, SCA3, and SCA6 patients (17%). SCA 1-3 patients presented mainly attentional and executive dysfunctions while semantic and episodic memory functions were preserved. Attentional and executive functions were partly correlated with ataxia severity and fine motor coordination. All patients exhibited mildly depressed mood. Motor and dominant hand functions were more predictive for depressed mood than cognitive measures or overall ataxia. Besides motor impairments in all patients, SCA patients with extracerebellar pathology (SCA 1-3) were characterized by poor frontal attentional and executive dysfunction while mild cognitive impairments in predominantly cerebellar SCA6 patients appeared to reflect mainly cerebellar dysfunction. Regarding the everyday relevance of symptoms, (dominant) motor hand functioning emerged as a marker for the patient's mood.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007435"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20502998"
},
{
- "id": "mondo:0008119",
+ "id": "pmid:19028133",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008119",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/19028133",
+ "title": "Quantitative evaluation of balance in patients with spinocerebellar ataxia type 1: a case control study.",
+ "type": "article-journal",
+ "doi": "10.1016/j.parkreldis.2008.10.003",
+ "authors": [
+ ["Ganesan", "Mohan"],
+ ["Pramod Kumar", "Pal"],
+ ["Kumar R", "Sendhil"],
+ ["Kandavel", "Thennarasu"],
+ ["B R", "Usha"]
+ ],
+ "publisher": "Parkinsonism & related disorders",
+ "issn": "1873-5126",
+ "date": "2008-11-22",
+ "abstract": "Quantitative assessment of balance in spinocerebellar ataxia type 1 (SCA1).",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008119"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19028133"
},
{
- "id": "mondo:0011330",
+ "id": "pmid:8619527",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011330",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/8619527",
+ "title": "Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.410390411",
+ "authors": [
+ ["A", "D\u00fcrr"],
+ ["G", "Stevanin"],
+ ["G", "Cancel"],
+ ["C", "Duyckaerts"],
+ ["N", "Abbas"],
+ ["O", "Didierjean"],
+ ["H", "Chneiweiss"],
+ ["A", "Benomar"],
+ ["O", "Lyon-Caen"],
+ ["J", "Julien"],
+ ["M", "Serdaru"],
+ ["C", "Penet"],
+ ["Y", "Agid"],
+ ["A", "Brice"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "0364-5134",
+ "date": "1996-04-01",
+ "abstract": "Patients with spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) carry an expanded CAG repeat in the MJD1 gene. One hundred twenty families of different geographic origin with autosomal dominant cerebellar ataxia (ADCA) type I were tested. Thirty-four families (126 patients) carried an expanded CAG repeat. The expanded and the normal allele did not overlap and the repeat was unstable during transmission, with variation in the size of the CAG length ranging from -8 to +5 and a mean expansion of 0.86 repeats without differences according to the parental sex. There was a combined effect of the number of CAG repeats of the expanded and normal allele on the age at onset, which accounted for 70% of its variability. The length of the CAG repeat influenced the frequency of clinical signs associated with cerebellar ataxia, such as abnormal tendon reflexes or decreased vibration sense, whereas the interindividual variation of supranuclear ophthalmoplegia, sphincter and swallowing difficulties, and amyotrophy was mostly determined by different disease durations. We compared the clinical profile of 91 SCA3/MJD patients with 51 SCA1 and 32 SCA2 patients. There were striking differences between the SCA3/MJD and SCA2 but not with SCA1 groups of patients. Despite their clinical similarities, distinct neuropathological features were observed in 2 SCA3/MJD and 2 SCA1 patients.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011330"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8619527"
},
{
- "id": "mondo:0008458",
+ "id": "pmid:9040742",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008458",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/9040742",
+ "title": "Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations.",
+ "type": "article-journal",
+ "doi": "10.1212/wnl.48.2.482",
+ "authors": [
+ ["Y X", "Zhou"],
+ ["Y", "Takiyama"],
+ ["S", "Igarashi"],
+ ["Y F", "Li"],
+ ["B Y", "Zhou"],
+ ["D C", "Gui"],
+ ["K", "Endo"],
+ ["H", "Tanaka"],
+ ["Z H", "Chen"],
+ ["L S", "Zhou"],
+ ["M Z", "Fan"],
+ ["B X", "Yang"],
+ ["J", "Weissenbach"],
+ ["G X", "Wang"],
+ ["S", "Tsuji"]
+ ],
+ "publisher": "Neurology",
+ "issn": "0028-3878",
+ "date": "1997-02-01",
+ "abstract": "Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a (CAG)n array in the MJD1 gene. We analyzed the sizes of the (CAG)n array using DNA samples from 61 members of four Chinese MJD families and 18 Chinese normal control subjects and confirmed that the (CAG)n array in 15 MJD chromosomes was expanded to 72-86 repeat units. There were no subjects with (CAG)n array sizes intermediate between those of normal and MJD affected groups. Meanwhile, we found a significant negative correlation between the age of onset of symptoms and (CAG)n array size. The largest (CAG)n array of 86 repeat units was in the youngest patient, whose age of onset was 5 years. The intergenerational increase in number of CAG repeat units was associated with the clinical phenomenon of anticipation.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008458"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9040742"
},
{
- "id": "mondo:0007182",
+ "id": "pmid:22133674",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007182",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/22133674",
+ "title": "Toward understanding Machado-Joseph disease.",
+ "type": "article-journal",
+ "doi": "10.1016/j.pneurobio.2011.11.006",
+ "authors": [
+ ["Maria do Carmo", "Costa"],
+ ["Henry L", "Paulson"]
+ ],
+ "publisher": "Progress in neurobiology",
+ "issn": "1873-5118",
+ "date": "2011-11-23",
+ "abstract": "Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. In MJD, a CAG repeat expansion encodes an abnormally long polyglutamine (polyQ) tract in the disease protein, ATXN3. Here we review MJD, focusing primarily on the function and dysfunction of ATXN3 and on advances toward potential therapies. ATXN3 is a deubiquitinating enzyme (DUB) whose highly specialized properties suggest that it participates in ubiquitin-dependent proteostasis. By virtue of its interactions with VCP, various ubiquitin ligases and other ubiquitin-linked proteins, ATXN3 may help regulate the stability or activity of many proteins in diverse cellular pathways implicated in proteotoxic stress response, aging, and cell differentiation. Expansion of the polyQ tract in ATXN3 is thought to promote an altered conformation in the protein, leading to changes in interactions with native partners and to the formation of insoluble aggregates. The development of a wide range of cellular and animal models of MJD has been crucial to the emerging understanding of ATXN3 dysfunction upon polyQ expansion. Despite many advances, however, the principal molecular mechanisms by which mutant ATXN3 elicits neurotoxicity remain elusive. In a chronic degenerative disease like MJD, it is conceivable that mutant ATXN3 triggers multiple, interconnected pathogenic cascades that precipitate cellular dysfunction and eventual cell death. A better understanding of these complex molecular mechanisms will be important as scientists and clinicians begin to focus on developing effective therapies for this incurable, fatal disorder.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007182"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22133674"
},
{
- "id": "mondo:0012116",
+ "id": "pmid:19811945",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0012116",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/19811945",
+ "title": "Caring for Machado-Joseph disease: current understanding and how to help patients.",
+ "type": "article-journal",
+ "doi": "10.1016/j.parkreldis.2009.08.012",
+ "authors": [
+ ["Anelyssa", "D'Abreu"],
+ ["Marcondes C", "Fran\u00e7a"],
+ ["Henry L", "Paulson"],
+ ["Iscia", "Lopes-Cendes"]
+ ],
+ "publisher": "Parkinsonism & related disorders",
+ "issn": "1873-5126",
+ "date": "2009-10-06",
+ "abstract": "Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding pathogenesis favor the view that mutated ataxin-3, with its polyglutamine expansion, is prone to adopt an abnormal conformation, engage in altered protein-protein interactions and aggregate. Expanded CAG repeat length correlates with the range and severity of the clinical manifestations and inversely correlates with age of disease onset. Though MJD/SCA3 is classically described as affecting the cerebellum, brainstem and basal ganglia, recent neuropathology and neuroimaging series demonstrate involvement of other areas such as the thalamus and cerebral cortex. Clinically, much emphasis has been placed in the description and recognition of the non-motor symptoms observed in these patients, such as pain, cramps, fatigue and depression. Currently, no disease modifying treatment exists for MJD/SCA3. Standard of care includes genetic counseling, exercise/physical therapy programs, and speech and swallow evaluation. Symptomatic treatment for clinical findings such as depression, sleep disorders, parkinsonism, dystonia, cramps, and pain is important to improve the quality of life for those with MJD/SCA3.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0012116"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19811945"
},
{
- "id": "mondo:0007296",
+ "id": "pmid:17953484",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007296",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/17953484",
+ "title": "Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila.",
+ "type": "article-journal",
+ "doi": "10.1371/journal.pgen.0030177",
+ "authors": [
+ ["Julide", "Bilen"],
+ ["Nancy M", "Bonini"]
+ ],
+ "publisher": "PLoS genetics",
+ "issn": "1553-7404",
+ "date": "2007-10-01",
+ "abstract": "Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene. The polyglutamine domain confers toxicity on the protein Ataxin-3 leading to neuronal dysfunction and loss. Although modifiers of polyglutamine toxicity have been identified, little is known concerning how the modifiers function mechanistically to affect toxicity. To reveal insight into spinocerebellar ataxia type-3, we performed a genetic screen in Drosophila with pathogenic Ataxin-3-induced neurodegeneration and identified 25 modifiers defining 18 genes. Despite a variety of predicted molecular activities, biological analysis indicated that the modifiers affected protein misfolding. Detailed mechanistic studies revealed that some modifiers affected protein accumulation in a manner dependent on the proteasome, whereas others affected autophagy. Select modifiers of Ataxin-3 also affected tau, revealing common pathways between degeneration due to distinct human neurotoxic proteins. These findings provide new insight into molecular pathways of polyQ toxicity, defining novel targets for promoting neuronal survival in human neurodegenerative disease.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007296"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17953484"
},
{
- "id": "mondo:0008457",
+ "id": "pmid:7887422",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/7887422",
+ "title": "Clinical and molecular characterization of patients with distal 11q deletions.",
+ "type": "article-journal",
"doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008457",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "authors": [
+ ["L A", "Penny"],
+ ["M", "Dell'Aquila"],
+ ["M C", "Jones"],
+ ["J", "Bergoffen"],
+ ["C", "Cunniff"],
+ ["J P", "Fryns"],
+ ["E", "Grace"],
+ ["J M", "Graham"],
+ ["B", "Kousseff"],
+ ["T", "Mattina"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "0002-9297",
+ "date": "1995-03-01",
+ "abstract": "Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008457"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7887422"
},
{
- "id": "mondo:0007838",
+ "id": "pmid:30488659",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007838",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30488659",
+ "title": "A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.",
+ "type": "article-journal",
+ "doi": "10.1002/humu.23690",
+ "authors": [
+ ["Xiaomin", "Chen"],
+ ["Jing", "Jin"],
+ ["Qiongdan", "Wang"],
+ ["Huangqi", "Xue"],
+ ["Na", "Zhang"],
+ ["Yaoqiang", "Du"],
+ ["Tao", "Zhang"],
+ ["Bing", "Zhang"],
+ ["Jinyu", "Wu"],
+ ["Zhenwei", "Liu"]
+ ],
+ "publisher": "Human mutation",
+ "issn": "1098-1004",
+ "date": "2018-12-08",
+ "abstract": "Recent whole-exome sequencing (WES) studies have demonstrated the contribution of de novo mutations (DNMs) to epileptic encephalopathies (EEs). Here, we performed WES on four trios with West syndrome and identified three loss-of-function DNMs in both CSNK1E (c.885+1G>A) and STXBP1 (splicing, c.1111-2A>G; nonsense, p.(Y519X)). The splicing mutation in CSNK1E creates insertion of 116 new amino acids at position 246 followed by a premature stop codon. Both CSNK1E and STXBP1 showed a closer coexpression relationship with epilepsy candidate genes beyond that expected by chance. In addition, genes coexpressed with CSNK1E were enriched in early prenatal stages across multiple brain regions. We also found that 60 CSNK1E-interacting genes share an association with multiple neuropsychiatric disorders, and these genes formed a significant interconnected interaction network with roles in the midbrain development. Our study supported the potential role of CSNK1E variants in EE susceptibility and expanded the phenotypic spectrum associated with CSNK1E variation.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007838"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30488659"
},
{
- "id": "mondo:0011266",
+ "id": "pmid:32937144",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011266",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/32937144",
+ "title": "A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.",
+ "type": "article-journal",
+ "doi": "10.1016/j.ajhg.2020.08.019",
+ "authors": [
+ ["Paras", "Garg"],
+ ["Bharati", "Jadhav"],
+ ["Oscar L", "Rodriguez"],
+ ["Nihir", "Patel"],
+ ["Alejandro", "Martin-Trujillo"],
+ ["Miten", "Jain"],
+ ["Sofie", "Metsu"],
+ ["Hugh", "Olsen"],
+ ["Benedict", "Paten"],
+ ["Beate", "Ritz"],
+ ["R Frank", "Kooy"],
+ ["Jozef", "Gecz"],
+ ["Andrew J", "Sharp"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "1537-6605",
+ "date": "2020-09-15",
+ "abstract": "There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little information exists on the prevalence and distribution of rare epigenetic variation in the human population. In order to address this, we performed a survey of methylation profiles from 23,116 individuals using the Illumina 450k array. Using a robust outlier approach, we identified 4,452 unique autosomal epivariations, including potentially inactivating promoter methylation events at 384 genes linked to human disease. For example, we observed promoter hypermethylation of BRCA1 and LDLR at population frequencies of \u223c1 in 3,000 and \u223c1 in 6,000, respectively, suggesting that epivariations may underlie a fraction of human disease which would be missed by purely sequence-based approaches. Using expression data, we confirmed that many epivariations are associated with outlier gene expression. Analysis of variation data and monozygous twin pairs suggests that approximately two-thirds of epivariations segregate in the population secondary to underlying sequence mutations, while one-third are likely sporadic events that occur post-zygotically. We identified 25 loci where rare hypermethylation coincided with the presence of an unstable CGG tandem repeat, validated the presence of CGG expansions at several loci, and identified the putative molecular defect underlying most of the known folate-sensitive fragile sites in the genome. Our study provides a catalog of rare epigenetic changes in the human genome, gives insight into the underlying origins and consequences of epivariations, and identifies many hypermethylated CGG repeat expansions.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011266"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32937144"
},
{
- "id": "mondo:0008322",
+ "id": "pmid:29939198",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008322",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29939198",
+ "title": "Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.",
+ "type": "article-journal",
+ "doi": "10.1093/brain/awy137",
+ "authors": [
+ ["Marc", "Corral-Juan"],
+ ["Carmen", "Serrano-Munuera"],
+ ["Alberto", "R\u00e1bano"],
+ ["Daniel", "Cota-Gonz\u00e1lez"],
+ ["Anna", "Segarra-Roca"],
+ ["Lourdes", "Ispierto"],
+ ["Antonio Tom\u00e1s", "Cano-Orgaz"],
+ ["Astrid D", "Adarmes"],
+ ["Carlota", "M\u00e9ndez-Del-Barrio"],
+ ["Silvia", "Jes\u00fas"],
+ ["Pablo", "Mir"],
+ ["Victor", "Volpini"],
+ ["Ramiro", "Alvarez-Ramo"],
+ ["Ivelisse", "S\u00e1nchez"],
+ ["Antoni", "Matilla-Due\u00f1as"]
+ ],
+ "publisher": "Brain : a journal of neurology",
+ "issn": "1460-2156",
+ "date": "2018-07-01",
+ "abstract": "The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron signs, or peripheral neuropathy. Over 41 different SCA subtypes have been described evidencing the high clinical and genetic heterogeneity. We previously reported a novel spinocerebellar ataxia type subtype, SCA37, linked to an 11-Mb genomic region on 1p32, in a large Spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements. Here we demonstrate the segregation of an unstable intronic ATTTC pentanucleotide repeat mutation within the 1p32 5' non-coding regulatory region of the gene encoding the reelin adaptor protein DAB1, implicated in neuronal migration, as the causative genetic defect of the disease in four Spanish SCA37 families. We describe the clinical-genetic correlation and the first SCA37 neuropathological findings caused by dysregulation of cerebellar DAB1 expression. Post-mortem neuropathology of two patients with SCA37 revealed severe loss of Purkinje cells with abundant astrogliosis, empty baskets, occasional axonal spheroids, and hypertrophic fibres by phosphorylated neurofilament immunostaining in the cerebellar cortex. The remaining cerebellar Purkinje neurons showed loss of calbindin immunoreactivity, aberrant dendrite arborization, nuclear pathology including lobulation, irregularity, and hyperchromatism, and multiple ubiquitinated perisomatic granules immunostained for DAB1. A subpopulation of Purkinje cells was found ectopically mispositioned within the cerebellar cortex. No significant neuropathological alterations were identified in other brain regions in agreement with a pure cerebellar syndrome. Importantly, we found that the ATTTC repeat mutation dysregulated DAB1 expression and induced an RNA switch resulting in the upregulation of reelin-DAB1 and PI3K/AKT signalling in the SCA37 cerebellum. This study reveals the unstable ATTTC repeat mutation within the DAB1 gene as the underlying genetic cause and provides evidence of reelin-DAB1 signalling dysregulation in the spinocerebellar ataxia type 37.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008322"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29939198"
},
{
- "id": "mondo:0007561",
+ "id": "pmid:40140942",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007561",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/40140942",
+ "title": "STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.",
+ "type": "article-journal",
+ "doi": "10.1186/s13073-025-01454-4",
+ "authors": [
+ ["Laurel", "Hiatt"],
+ ["Ben", "Weisburd"],
+ ["Egor", "Dolzhenko"],
+ ["Vincent", "Rubinetti"],
+ ["Akshay K", "Avvaru"],
+ ["Grace E", "VanNoy"],
+ ["Nehir Edibe", "Kurtas"],
+ ["Heidi L", "Rehm"],
+ ["Aaron R", "Quinlan"],
+ ["Harriet", "Dashnow"]
+ ],
+ "publisher": "Genome medicine",
+ "issn": "1756-994X",
+ "date": "2025-03-26",
+ "abstract": "Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1-6\u00a0bp motifs and variable number tandem repeats (VNTRs) of 7\u2009+\u2009bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and enigmatic. It remains comparatively challenging to interpret the clinical significance of TR variants, particularly relative to single nucleotide variants. We present STRchive ( http://strchive.org/ ), a dynamic resource consolidating information on TR disease loci from the research literature, up-to-date clinical resources, and large-scale genomic databases, streamlining TR variant interpretation at disease-associated loci.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007561"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40140942"
},
{
- "id": "mondo:0009698",
+ "id": "pmid:39643839",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0009698",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39643839",
+ "title": "Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.",
+ "type": "article-journal",
+ "doi": "10.1007/s10072-024-07826-9",
+ "authors": [
+ ["Martina", "Rimoldi"],
+ ["Sabrina", "Lucchiari"],
+ ["Serena", "Pagliarani"],
+ ["Giovanni", "Meola"],
+ ["Giacomo Pietro", "Comi"],
+ ["Elena", "Abati"]
+ ],
+ "publisher": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology",
+ "issn": "1590-3478",
+ "date": "2024-12-07",
+ "abstract": "Myotonic dystrophies (DM) encompass a group of complex genetic disorders characterized by progressive muscle weakness with myotonia and multisystemic involvement. The aim of our paper is to synthesize key findings and advancements in the understanding of DM, and to underline the multidisciplinary approach to DM, emphasizing the importance of genetic counseling, comprehensive clinical care, and symptom management. We discuss the genetic basis of DM, emphasizing the role of repeat expansions in disease pathogenesis, as well as cellular and animal models utilized for studying DM mechanisms and testing potential therapies. Diagnostic challenges, such as determining the size of disease expansions and assessing mosaicism, are elucidated alongside emerging genetic testing methods. Therapeutic strategies, mainly for DM1, are also explored, encompassing small molecules, nucleic acid-based therapies (NATs), and genome/transcriptome engineering. The challenges of such a therapeutic delivery and immunogenic response and the importance of innovative strategies, including viral vectors and AAV serotypes, are highlighted within the text. While no curative treatments have been approved, supportive and palliative care remains essential, with a focus on addressing multisystemic complications and maintaining functional independence. Continued exploration of these therapeutic advancements offers hope for comprehensive disease management and potentially curative therapies for DM1 and related disorders.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0009698"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39643839"
},
{
- "id": "mondo:0014410",
+ "id": "pmid:7847063",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0014410",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/7847063",
+ "title": "Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions.",
+ "type": "article-journal",
+ "doi": "10.1111/j.1600-0404.1994.tb02708.x",
+ "authors": [
+ ["B", "Censori"],
+ ["L", "Provinciali"],
+ ["M", "Danni"],
+ ["L", "Chiaramoni"],
+ ["M", "Maricotti"],
+ ["N", "Foschi"],
+ ["M", "Del Pesce"],
+ ["U", "Salvolini"]
+ ],
+ "publisher": "Acta neurologica Scandinavica",
+ "issn": "0001-6314",
+ "date": "1994-09-01",
+ "abstract": "A prospective, case-control study was carried out on 25 patients with myotonic dystrophy (MyD) and 25 healthy subjects using brain magnetic resonance imaging (MRI). The frequency and severity of white matter hyperintense lesions (WMHL) and brain atrophy in MyD patients were compared with their clinical features and cognitive impairment using an extensive neuropsychological battery. Eighty-four per cent of MyD patients showed WMHL, compared with 16% of controls (p < 0.0001). These lesions involved all cerebral lobes, without hemispheric prevalence. Twenty-eight per cent of MyD patients also showed particular WMHL at their temporal poles. Myotonic patients had significantly more cortical atrophy than controls. No relationship between atrophy and WMHL was found on the MRI scans. The extent of brain abnormalities (WMHL or atrophy) was not correlated to age, disease duration, physical disability or severity of neuropsychological impairment. Central nervous system abnormalities revealed by MRI appear to be an almost constant feature of MyD, but they are not found to be related to clinical or cognitive parameters. Their nature is still unclear: some of them, located at the temporal poles, seem to be characteristic of the disease, while others small, diffuse WMHLs, similar to the age related alterations revealed by MRI occurring during young and adult age in MyD patients.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0014410"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7847063"
},
{
- "id": "mondo:0010679",
+ "id": "pmid:28334780",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010679",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/28334780",
+ "title": "EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddx078",
+ "authors": [
+ ["Emily E", "Miller"],
+ ["Gerson S", "Kobayashi"],
+ ["Camila M", "Musso"],
+ ["Miranda", "Allen"],
+ ["Felipe A A", "Ishiy"],
+ ["Luiz Carlos", "de Caires"],
+ ["Ernesto", "Goulart"],
+ ["Karina", "Griesi-Oliveira"],
+ ["Roseli M", "Zechi-Ceide"],
+ ["Antonio", "Richieri-Costa"],
+ ["Debora R", "Bertola"],
+ ["Maria Rita", "Passos-Bueno"],
+ ["Debra L", "Silver"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2017-06-15",
+ "abstract": "Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities. RCPS iNCCs have decreased migratory capacity, a distinct phenotype relative to other craniofacial disorders. Eif4a3 haploinsufficient embryos presented altered mandibular process fusion and micrognathia, thus recapitulating the most penetrant phenotypes of the syndrome. These defects were evident in either ubiquitous or NCC-specific Eif4a3 haploinsufficient animals, demonstrating an autonomous requirement of Eif4a3 in NCCs. Notably, RCPS NCC-derived mesenchymal stem-like cells (nMSCs) showed premature bone differentiation, a phenotype paralleled by premature clavicle ossification in Eif4a3 haploinsufficient embryos. Likewise, nMSCs presented compromised in vitro chondrogenesis, and Meckel's cartilage was underdeveloped in vivo. These findings indicate novel and essential requirements of EIF4A3 for NCC migration and osteochondrogenic differentiation during craniofacial development. Altogether, complementary use of iPSCs and mouse models pinpoint unique cellular mechanisms by which EIF4A3 mutation causes RCPS, and provide a paradigm to study craniofacial disorders.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010679"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28334780"
},
{
- "id": "mondo:0008056",
+ "id": "pmid:12489043",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008056",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/12489043",
+ "title": "A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].",
+ "type": "article-journal",
+ "doi": "10.1086/345488",
+ "authors": [
+ ["John C", "van Swieten"],
+ ["Esther", "Brusse"],
+ ["Bianca M", "de Graaf"],
+ ["Elmar", "Krieger"],
+ ["Raoul", "van de Graaf"],
+ ["Inge", "de Koning"],
+ ["Anneke", "Maat-Kievit"],
+ ["Peter", "Leegwater"],
+ ["Dennis", "Dooijes"],
+ ["Ben A", "Oostra"],
+ ["Peter", "Heutink"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "0002-9297",
+ "date": "2002-12-13",
+ "abstract": "Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype. In several other SCA types, no genetic defect has yet been identified. We describe a large, three-generation family with early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia, not associated with any of the known SCA loci, and a mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice. As indicated by protein modeling, the amino acid change from phenylalanine to serine at position 145 is predicted to reduce the stability of the protein. The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008056"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12489043"
},
{
- "id": "mondo:0009998",
+ "id": "pmid:12123606",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0009998",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/12123606",
+ "title": "Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14.",
+ "type": "article-journal",
+ "doi": "10.1016/s0896-6273(02)00744-4",
+ "authors": [
+ ["Qing", "Wang"],
+ ["Mark E", "Bardgett"],
+ ["Michael", "Wong"],
+ ["David F", "Wozniak"],
+ ["Junyang", "Lou"],
+ ["Benjamin D", "McNeil"],
+ ["Chen", "Chen"],
+ ["Anthony", "Nardi"],
+ ["David C", "Reid"],
+ ["Kelvin", "Yamada"],
+ ["David M", "Ornitz"]
+ ],
+ "publisher": "Neuron",
+ "issn": "0896-6273",
+ "date": "2002-07-03",
+ "abstract": "Fibroblast growth factor 14 (FGF14) belongs to a distinct subclass of FGFs that is expressed in the developing and adult CNS. We disrupted the Fgf14 gene and introduced an Fgf14(N-beta-Gal) allele that abolished Fgf14 expression and generated a fusion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase. Fgf14-deficient mice were viable, fertile, and anatomically normal, but developed ataxia and a paroxysmal hyperkinetic movement disorder. Neuropharmacological studies showed that Fgf14-deficient mice have reduced responses to dopamine agonists. The paroxysmal hyperkinetic movement disorder phenocopies a form of dystonia, a disease often associated with dysfunction of the putamen. Strikingly, the FGF14N-beta-gal chimeric protein was efficiently transported into neuronal processes in the basal ganglia and cerebellum. Together, these studies identify a novel function for FGF14 in neuronal signaling and implicate FGF14 in axonal trafficking and synaptosomal function.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0009998"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12123606"
},
{
- "id": "mondo:0010383",
+ "id": "pmid:17978045",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010383",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/17978045",
+ "title": "The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability.",
+ "type": "article-journal",
+ "doi": "10.1523/jneurosci.2282-07.2007",
+ "authors": [
+ ["Fernanda", "Laezza"],
+ ["Benjamin R", "Gerber"],
+ ["Jun-Yang", "Lou"],
+ ["Marie A", "Kozel"],
+ ["Hali", "Hartman"],
+ ["Ann Marie", "Craig"],
+ ["David M", "Ornitz"],
+ ["Jeanne M", "Nerbonne"]
+ ],
+ "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
+ "issn": "1529-2401",
+ "date": "2007-10-31",
+ "abstract": "Fibroblast growth factor 14 (FGF14) belongs to the intracellular FGF homologous factor subfamily of FGF proteins (iFGFs) that are not secreted and do not activate tyrosine kinase receptors. The iFGFs, however, have been shown to interact with the pore-forming (alpha) subunits of voltage-gated Na+ (Na(v)) channels. The neurological phenotypes seen in Fgf14-/- mice and the identification of an FGF14 missense mutation (FGF14(F145S)) in a Dutch family presenting with cognitive impairment and spinocerebellar ataxia suggest links between FGF14 and neuronal functioning. Here, we demonstrate that the expression of FGF14(F145S) reduces Na(v) alpha subunit expression at the axon initial segment, attenuates Na(v) channel currents, and reduces the excitability of hippocampal neurons. In addition, and in contrast with wild-type FGF14, FGF14(F145S) does not interact directly with Na(v) channel alpha subunits. Rather, FGF14(F145S) associates with wild-type FGF14 and disrupts the interaction between wild-type FGF14 and Na(v) alpha subunits, suggesting that the mutant FGF14(F145S) protein acts as a dominant negative, interfering with the interaction between wild-type FGF14 and Na(v) channel alpha subunits and altering neuronal excitability.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010383"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17978045"
},
{
- "id": "mondo:0010706",
+ "id": "pmid:2031184",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010706",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/2031184",
+ "title": "Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.",
+ "type": "article-journal",
+ "doi": "10.1126/science.252.5009.1097",
+ "authors": [
+ ["I", "Oberl\u00e9"],
+ ["F", "Rousseau"],
+ ["D", "Heitz"],
+ ["C", "Kretz"],
+ ["D", "Devys"],
+ ["A", "Hanauer"],
+ ["J", "Bou\u00e9"],
+ ["M F", "Bertheas"],
+ ["J L", "Mandel"]
+ ],
+ "publisher": "Science (New York, N.Y.)",
+ "issn": "0036-8075",
+ "date": "1991-05-24",
+ "abstract": "The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich fragment. Normal transmitting males had a 150- to 400-base pair insertion that was inherited by their daughters either unchanged, or with small differences in size. Fragile X-positive individuals in the next generation had much larger fragments that differed among siblings and showed a generally heterogeneous pattern indicating somatic mutation. The mutated allele appeared unmethylated in normal transmitting males, methylated only on the inactive X chromosome in their daughters, and totally methylated in most fragile X males. However, some males had a mosaic pattern. Expression of the fragile X syndrome thus appears to result from a two-step mutation as well as a highly localized methylation. Carriers of the fragile X mutation can easily be detected regardless of sex or phenotypic expression, and rare apparent false negatives may result from genetic heterogeneity or misdiagnosis.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010706"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2031184"
},
{
- "id": "mondo:0010382",
+ "id": "pmid:35148024",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010382",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/35148024",
+ "title": "The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.",
+ "type": "article-journal",
+ "doi": "10.1002/ajmg.a.62594",
+ "authors": [
+ ["Lu", "Meng"],
+ ["Walter E", "Kaufmann"],
+ ["Richard E", "Frye"],
+ ["Katherine", "Ong"],
+ ["Jennifer W", "Kaminski"],
+ ["Milen", "Velinov"],
+ ["Elizabeth", "Berry-Kravis"]
+ ],
+ "publisher": "American journal of medical genetics. Part A",
+ "issn": "1552-4833",
+ "date": "2021-12-08",
+ "abstract": "Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numbers of CGG repeats between the two alleles, such that in addition to a full mutation allele there is an allele in the normal or premutation range of CGG repeats, while methylation mosaicism indicates whether a full-mutation allele is fully or partially methylated. The present study explored the association between mosaicism type and cognitive and behavioral functioning in a large sample of males 3\u2009years and older (n\u00a0=\u00a0487) with FXS, participating in the Fragile X Online Registry with Accessible Research Database. Participants with methylation mosaicism were less severely cognitively affected as indicated by a less severe intellectual disability rating, higher intelligence quotient and adaptive behavior score, and lower social impairment score. In contrast, the presence of size mosaicism was not significantly associated with better cognitive and behavioral outcomes than full mutation. Our findings suggest that methylation mosaicism is associated with better cognitive functioning and adaptive behavior and less social impairment. Further research could assess to what extent these cognitive and behavioral differences depend on molecular diagnostic methods and the impact of mosaicism on prognosis of individuals with FXS.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010382"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35148024"
},
{
- "id": "mondo:0007201",
+ "id": "pmid:6712153",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007201",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/6712153",
+ "title": "The marker (X) syndrome: a cytogenetic and genetic analysis.",
+ "type": "article-journal",
+ "doi": "10.1111/j.1469-1809.1984.tb00830.x",
+ "authors": [
+ ["S L", "Sherman"],
+ ["N E", "Morton"],
+ ["P A", "Jacobs"],
+ ["G", "Turner"]
+ ],
+ "publisher": "Annals of human genetics",
+ "issn": "0003-4800",
+ "date": "1984-01-01",
+ "abstract": "The results of a cytogenetic and segregation analysis of 110 pedigrees of the mar (X) syndrome are reported. The cytogenetic study indicated an inverse relationship between IQ and the mar(X) frequency in females but not in males. A small but significant effect of age on mar(X) frequency was observed in both males and females, but in females it was restricted to those of normal intelligence, retarded females showing no significant effect. Classical segregation analysis was performed using the program SEGRAN, analysing sexes separately. A 20% deficit of affected males was observed, the most plausible explanation for the majority of these cases being incomplete penetrance. Since this was an unexpected result, the data were scrutinized for possible biases; however, correction of these had little effect on the estimate. The penetrance of mental impairment in carrier females was estimated to be 30% and of mental impairment and/or mar(X) expression to be 56%. Thus 44% of carriers cannot be detected with our definition of affection. No evidence for sporadic cases among affected males was found. Complex segregation analysis was performed using the sex-linked version of POINTER, analysing sexes together. This was done in order to test the results from classical segregation analysis, to test for family resemblance and to estimate mutation rates. It was confirmed that there was a 20% deficit of affected males, that penetrance of mental impairment in females was approximately 30% and that there was no evidence for sporadic males. Thus all males with the gene appear to have received it from their carrier mothers and all mutations must occur in sperm. The mutation rate in sperm was estimated to be as high as 7.2 X 10(-4), implying that over one-half of random carrier females are fresh mutants. Our results have important implications for genetic counseling as they imply that all mothers of isolated affected males are carriers, that normal brothers of affected males have a 17% chance of carrying the gene and transmitting it to all their daughters, and that normal sisters of affected males have, at most, a 30% chance of being carriers. Since there are biases in the data due to the testing of particular individuals, these probabilities must be considered approximations until they are independently confirmed.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007201"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:6712153"
},
{
- "id": "mondo:0600001",
+ "id": "pmid:3838733",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0600001",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/3838733",
+ "title": "Further segregation analysis of the fragile X syndrome with special reference to transmitting males.",
+ "type": "article-journal",
+ "doi": "10.1007/bf00291644",
+ "authors": [
+ ["S L", "Sherman"],
+ ["P A", "Jacobs"],
+ ["N E", "Morton"],
+ ["U", "Froster-Iskenius"],
+ ["P N", "Howard-Peebles"],
+ ["K B", "Nielsen"],
+ ["M W", "Partington"],
+ ["G R", "Sutherland"],
+ ["G", "Turner"],
+ ["M", "Watson"]
+ ],
+ "publisher": "Human genetics",
+ "issn": "0340-6717",
+ "date": "1985-01-01",
+ "abstract": "A new series of 96 pedigrees with the fra(X) syndrome was analysed using complex segregation analysis with pointers, defining affection as any degree of mental impairment. These families were found to exhibit the same segregation pattern as the first series of 110 pedigrees (Sherman et al. 1984). The best estimate for penetrance of mental impairment in males was 79% and in females was 35% for the combined data. Again, there was little evidence for sporadic cases among affected males. Many more intellectually normal transmitting males have been observed since the existence of such males and the concomitant need to investigate the paternal side of pedigrees was recognized. On further investigation of all 206 pedigrees from the old and new data sets, the sibships of nonexpressing males appeared to be different from those of expressing males. Our analysis, using mental impairment as the phenotype, suggested that obligate carrier mothers and daughters of intellectually normal transmitting males are rarely, if ever, mentally impaired and that the sibs of transmitting males are much less likely to be retarded than the sibs of mentally impaired males. Though mothers and daughters of transmitting males are similar in phenotype, the expression of the gene in their offspring appears to be different: the penetrance of mental impairment is higher in offspring of intellectually normal daughters of transmitting males than in offspring of intellectually normal mothers of transmitting males. The implications of these observations for genetic counseling and for genetic models of the fra(X) syndrome are discussed.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0600001"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:3838733"
},
{
- "id": "mondo:0007698",
+ "id": "pmid:1673303",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007698",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/1673303",
+ "title": "DNA linkage analysis of 26 families with fragile X syndrome.",
+ "type": "article-journal",
+ "doi": "10.1002/ajmg.1320380229",
+ "authors": [
+ ["N J", "Carpenter"]
+ ],
+ "publisher": "American journal of medical genetics",
+ "issn": "0148-7299",
+ "date": "1991-01-01",
+ "abstract": "Linkage data using the markers F9 (factor IX), DXS105 (cX55.7), DXS98 (4D-8), DXS52 (St14), DXS15 (DX13), and DXS134 (cpX67) are presented from 26 pedigrees segregating with fragile X (fra[X]) syndrome. Cytogenetic and DNA data were combined in 2-point linkage analysis for the estimation of lod scores and carrier probabilities in potential carriers. Recombination fractions (theta) corresponding to the maximum lod scores (Z) were obtained for F9 (Z = 2.78, theta = 0.15), DXS105 (Z = 1.72, theta = 14), DXS98 (Z = 3.74, theta = 0.00), DXS52 (Z = 3.53, theta = 0.17), DXS15 (Z = 4.03, theta = 0.11), and DXS134 (Z = 2.12, theta = 0.16) and for the fragile X locus (FRAXA). Recombination fractions between marker loci in the families are also presented. Discordance between the results of cytogenetic and DNA analyses in 2 potential carrier females was investigated by reexamination of the fragile site expression and was concluded to be due to the expression of the common fragile site at Xq27.2.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007698"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1673303"
},
{
- "id": "mondo:0007739",
+ "id": "pmid:2903666",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/2903666",
+ "title": "Linkage studies in a large fragile X family.",
+ "type": "article-journal",
"doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007739",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "authors": [
+ ["M", "Patterson"],
+ ["M", "Bell"],
+ ["W", "Kress"],
+ ["K E", "Davies"],
+ ["U", "Froster-Iskenius"]
+ ],
+ "publisher": "American journal of human genetics",
+ "issn": "0002-9297",
+ "date": "1988-11-01",
+ "abstract": "We have analyzed the segregation of five loci in the region Xq27/28 in a large family affected by the fragile X syndrome. The marker DXS115 (767) is shown to be polymorphic with the enzyme PstI, as well as with BstXI. This marker will be useful in the analysis of both fragile X and haemophilia A families. The data presented here are consistent with the following order of loci: Xcen-F9-DXS105(cX55.7,55E)-DXS98(4D-8)- FRAXA-DXS52(St14)-DXS115(767)-qter.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007739"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2903666"
},
{
- "id": "mondo:0011671",
+ "id": "pmid:22483044",
"manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011671",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/22483044",
+ "title": "The pathophysiology of fragile X (and what it teaches us about synapses).",
+ "type": "article-journal",
+ "doi": "10.1146/annurev-neuro-060909-153138",
+ "authors": [
+ ["Asha L", "Bhakar"],
+ ["G\u00fcl", "D\u00f6len"],
+ ["Mark F", "Bear"]
+ ],
+ "publisher": "Annual review of neuroscience",
+ "issn": "1545-4126",
+ "date": "2012-04-05",
+ "abstract": "Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011671"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22483044"
},
{
- "id": "mondo:0020726",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0020726",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0020726"
-},
-{
- "id": "mondo:0013594",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0013594",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0013594"
-},
-{
- "id": "mondo:0011327",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011327",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011327"
-},
-{
- "id": "mondo:0800026",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0800026",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0800026"
-},
-{
- "id": "mondo:0011439",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011439",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011439"
-},
-{
- "id": "mondo:0014662",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0014662",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0014662"
-},
-{
- "id": "mondo:0007340",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007340",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007340"
-},
-{
- "id": "mondo:0011781",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011781",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011781"
-},
-{
- "id": "mondo:0008542",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008542",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008542"
-},
-{
- "id": "mondo:0010847",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010847",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010847"
-},
-{
- "id": "mondo:0012322",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0012322",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0012322"
-},
-{
- "id": "mondo:0005258",
- "manubot_success": true,
- "title": "Ontology Lookup Service (OLS)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0005258",
- "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0005258"
-},
-{
- "id": "genereviews:NBK51932",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK51932/",
- "title": "POLYALANINE TRACT DISORDERS AND NEUROCOGNITIVE PHENOTYPES",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Cheryl", "Shoubridge"],
- ["Jozef", "Gecz"]
- ],
- "publisher": "Madame Curie Bioscience Database [Internet]",
- "issn": "",
- "date": "2013-01-01",
- "abstract": "Expansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these nine diseases are due to expansions in transcription factors and give rise to congenital disorders, many with neurocognitive phenotypes. Disease-causing expansions vary in length depending upon the gene in question, with the severity of the associated clinical phenotype generally increasing with length of the polyalanine tract. The past decade has seen considerable progress in the understanding on how these mutations may arise and the functional effect of expanded polyalanine tracts on the resulting protein. Despite this progress, the pathogenic mechanism of expanded polyalanine tracts contributing to the associated disease states remains poorly understood. Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK51932"
-},
-{
- "id": "genereviews:NBK1275",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1275/",
- "title": "Spinocerebellar Ataxia Type 2",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Stefan M.", "Pulst"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration., The diagnosis of SCA2 rests on the use of molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion in ATXN2. Affected individuals have alleles with 33 or more CAG trinucleotide repeats., Treatment of manifestations: Management is supportive. Affected individuals should maintain activity. Canes and walkers help prevent falls; grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary. Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria. Weighted eating utensils and dressing hooks help maintain a sense of independence. When dysphagia becomes troublesome, video swallowing studies can identify the consistency of food least likely to trigger aspiration. Prevention of secondary complications: Vitamin supplements are recommended; weight control helps minimize difficulties with ambulation and mobility. Surveillance: Annual examination by a physician experienced in movement disorders and ataxia. Agents/circumstances to avoid: Alcohol and medications known to affect cerebellar function., SCA2 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the causative CAG trinucleotide repeat expansion. The repeat may expand significantly, especially when transmitted by the father. Prenatal testing for a pregnancy at increased risk is possible if the diagnosis has been established by molecular genetic testing in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301452\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1275"
-},
-{
- "id": "genereviews:NBK557816",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK557816/",
- "title": "Spinocerebellar Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Jenish", "Bhandari"],
- ["Pawan K.", "Thada"],
- ["Debopam", "Samanta"]
- ],
- "publisher": "StatPearls",
- "issn": "",
- "date": "2026-01-01",
- "abstract": "Ataxia is the absence of voluntary muscle coordination and loss of control of movement that affects gait stability, eye movement, and speech. Spinocerebellar ataxia\u00a0(SCA) is an\u00a0inherited (autosomal dominant), progressive, neurodegenerative, and heterogeneous disease that mainly affects the cerebellum. SCA is a subset of hereditary cerebellar ataxia and is a rare disease. To date, more than 40 distinct genetic SCAs have been identified which are classified according to the genetic loci in order of identification. SCA1 was the first SCA described and then further subtypes are identified sequentially. SCA doesn't compulsorily mean that it is restricted to the cerebellum and spinal cord. It may involve the other parts of the central nervous system as well, such as pontine nuclei, spinal cord, peripheral nerves, cortex, basal ganglia, etc. SCA6 is restricted to the cerebellum whereas SCA2 spares cerebellum.\u00a0Well defined and common types are SCA1, SCA2, SCA3, and SCA6 which accounts for more than half of cases and other rare variants constitute the remaining cases. SCA is very complex to understand both genotypically and phenotypically and very difficult to describe all variants at one time.",
- "language": "eng",
- "note": "PMID: 32491748\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK557816"
-},
-{
- "id": "genereviews:NBK1268",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1268/",
- "title": "Spinocerebellar Ataxia Type 8",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["John Douglas", "Cleary"],
- ["S. H.", "Subramony"],
- ["Laura PW", "Ranum"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened., The diagnosis of SCA8 is established in a proband with suggestive findings and a heterozygous abnormal (CTG\u00b7CAG)n repeat expansion in the two overlapping genes ATXN8OS/ATXN8 identified by molecular genetic testing., Treatment of manifestations: Canes and walkers to help prevent falls; modification of the home (e.g., grab bars, raised toilet seats, ramps for motorized chairs) as needed; speech therapy and communication devices for those with dysarthria; weighted eating utensils and dressing hooks to maintain some independence; feeding evaluations to reduce risk of aspiration from dysphagia; physical activity to maintain muscular and cardiopulmonary conditioning. Surveillance: Routine follow up by the multidisciplinary care team including neurology to assess disease progression; physiatry and occupational and physical therapy to assess mobility and self-help skills; speech and language specialists to assess need for alternative communication method or speech therapy; feeding team to assess nutrition, aspiration risk, and feeding methods; and mental health professionals. Agents/circumstances to avoid: Alcohol can exacerbate incoordination., SCA8 is inherited in an autosomal dominant manner with reduced penetrance. To date, all individuals diagnosed with SCA8 whose parents have been evaluated with molecular genetic testing have one parent with an ATXN8OS/ATXN8 (CTG\u00b7CAG)n repeat expansion. The transmitting parent may or may not have clinical manifestations of SCA8. If a parent of the proband is known to have a (CTG\u00b7CAG)n repeat expansion, the risk to each sib of inheriting the repeat expansion is 50%. The (CTG\u00b7CAG)n repeat expansion is highly unstable and almost always changes in size on transmission: the repeat expansion is more likely to become larger when maternally transmitted and more likely to contract with paternal transmission. Sibs who inherit a (CTG\u00b7CAG)n repeat expansion may or may not develop clinical manifestations of SCA8. Once an SCA8 (CTG\u00b7CAG)n repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301445\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1268"
-},
-{
- "id": "genereviews:NBK268647",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK268647/",
- "title": "C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Helena", "Gossye"],
- ["Sebastiaan", "Engelborghs"],
- ["Christine", "Van Broeckhoven"],
- ["Julie", "Zee"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis., The diagnosis of C9orf72-FTD/ALS is established in a proband with suggestive findings and a heterozygous abnormal G4C2 (GGGGCC) hexanucleotide repeat expansion in C9orf72 identified by molecular genetic testing., Treatment of manifestations: Care is often provided by a multidisciplinary team that includes a neurologist, specially trained nurses, pulmonologist, speech therapist, physical therapist, occupational therapist, respiratory therapist, nutritionist, psychologist, social worker, and genetic counselor. Surveillance: Routine follow up by multidisciplinary specialists to monitor neurologic findings, mobility and activities of daily living, psychiatric/behavioral manifestations, nutrition and safety of oral feeding, respiratory and bladder function, and needs of affected individuals and care providers for psychosocial support., C9orf72-FTD/ALS is inherited in an autosomal dominant manner. Almost all individuals diagnosed with C9orf72-FTD/ALS inherited a C9orf72 G4C2 repeat expansion from a heterozygous parent. In most families the heterozygous parent is affected; however, a heterozygous parent may not have clinical manifestations of the disorder due to age-dependent reduced penetrance. Each child of an individual with C9orf72-FTD/ALS has a 50% chance of inheriting the C9orf72 G4C2 repeat expansion. Once a C9orf72 G4C2 repeat expansion has been identified in an affected family member, prenatal and preimplantation genetic testing for the presence of the C9orf72 G4C2 repeat expansion are possible. (Note: The presence of a C9orf72 G4C2 repeat expansion cannot predict the disease course in any given individual.)",
- "language": "eng",
- "note": "PMID: 25577942\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK268647"
-},
-{
- "id": "genereviews:NBK1140",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1140/",
- "title": "Spinocerebellar Ataxia Type 6",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Hannah L.", "Casey"],
- ["Christopher M.", "Gomez"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved., The diagnosis of SCA6 rests on the use of molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion in CACNA1A. Affected individuals have 20 to 33 CAG repeats., Treatment of manifestations: Acetazolamide may eliminate episodes of ataxia; canes, walking sticks, and walkers to prevent falling; home modifications for safety and convenience; weighted eating utensils and dressing hooks; physical therapy and exercises enhancing balance and core strength; vitamin supplements particularly if caloric intake is reduced; feeding recommendations as per feeding therapist / occupational therapist; weight control, as obesity exacerbates ambulation and mobility problems; vestibular symptoms may be managed with medications including diphenhydramine, baclofen, and gabapentin. 4-aminopyridine may be helpful with vestibular symptoms and to suppress nystagmus; refractive or surgical management per ophthalmologist for diplopia; speech therapy and communication devices for dysarthria; clonazepam for REM sleep disorders; continuous positive airway pressure for sleep apnea. Surveillance: Annual or semiannual evaluation by a neurologist; driving ability should be assessed by professionals periodically. Annual consultations with a physiatrist and physical and/or occupational therapist; review need for walking aid(s) and home adaptations. Nutrition evaluation, video esophagram, and feeding assessments as needed. Ophthalmology and/or optometry evaluation as needed for prisms or surgery. Agents/circumstances to avoid: Sedative hypnotics (ethanol or certain medications) that increase incoordination., SCA6 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting an abnormal CAG trinucleotide repeat expansion in CACNA1A. Once a CACNA1A CAG repeat expansion has been identified in an affected family member, prenatal testing and preimplantation genetic testing for SCA6 are possible.",
- "language": "eng",
- "note": "PMID: 20301319\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1140"
-},
-{
- "id": "genereviews:NBK1466",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1466/",
- "title": "Myotonic Dystrophy Type 2",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Felix", "Kleefeld"],
- ["Hannes", "Erdmann"],
- ["Benedikt", "Schoser"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable., The diagnosis of DM2 is established in a proband by identification of a heterozygous pathogenic expansion of a CCTG repeat within the complex repeat motif of (TG)n(TCTG)n(CCTG)n(TCTG')n in CNBP. The number of CCTG repeats in a pathogenic expansion ranges from approximately 75 to more than 11,000, with a mean of approximately 5,000 repeats. The detection rate of a CNBP CCTG expansion is more than 99% with the combination of routine PCR, Southern blot analysis, and PCR repeat-primed assay., Treatment of manifestations: Ankle-foot orthoses, wheelchairs, or other assistive devices as needed for weakness; regular physical activity and exercise training appears to help maintain muscle strength and endurance and to control musculoskeletal pain; myotonia, especially of the legs, can require treatment and mexiletine or lamotrigine may be beneficial; medications used with some success in myalgia management include mexiletine, gabapentin, pregabalin, nonsteroidal anti-inflammatory drugs, cannabinoids, low-dose thyroid replacement, and tricyclic antidepressants; removal of cataracts or epiretinal membrane that impair vision; education regarding sleep hygiene; cognitive behavioral therapy and modafinil may be helpful for fatigue and daytime sleepiness; vitamin D supplementation for those with deficiency; treatment of diabetes and or dietary management per endocrinologist for insulin sensitivity and type 2 diabetes; lipid-lowering drugs for hyperlipidemia; hormone therapy for endocrine dysfunction; hearing aids for sensorineural hearing loss; treatment of arrhythmia and cardiomyopathy per cardiologist with defibrillator placement for those with arrhythmias; prokinetic agents may be helpful for gastrointestinal manifestations; vaccinations, respiratory training, and cough assist with noninvasive ventilation as needed; cognitive behavioral therapy and psychotropic medications as needed; standard treatment per oncologist for any cancers. Surveillance: Annual evaluation with neurologist, occupational therapist, and physical therapist; annual ophthalmology evaluation for posterior subcapsular cataracts and epiretinal membranes; assessment for sleep issues, polysomnography to identify sleep apnea, and serum vitamin D every six months; annual assessment of body mass index, clinical manifestations of diabetes mellitus, and thyroid disorders; measurement of fasting serum glucose, glycosylated hemoglobin level, thyroid hormone levels, and lipid panel annually; serum testosterone, inhibin B, luteinizing hormone, follicle-stimulating hormone, and dehydroeipandosterone sulfate annually in males; audiometry evaluation every six months; annual assessment for palpitations, syncope, dyspnea, orthopnea, and edema; annual EKG, 24-hour Holter monitoring, and echocardiogram to detect/monitor cardiac conduction defects and cardiomyopathy; cardiac MRI per cardiologist; assess for gastrointestinal manifestations and respiratory issues using the Respicheck assessment annually; pulmonary function test, cough peak flow, and nocturnal oximetry/capnometry annually; assessment of cardiac and respiratory function before and after surgery; assess for learning difficulties, memory deficits, executive dysfunction, and affective disorders as clinically indicated; neuropsychological testing and brain MRI as clinically indicated; annual assessment for clinical manifestations of associated tumors and follow standard population tumor screening guidelines. Agents/circumstances to avoid: Cholesterol-lowering medications when associated with increased weakness; medications that can exacerbate myotonia (depolarizing muscle relaxants). Monitor ventilation before, during, and after anesthesia., DM2 is inherited in an autosomal dominant manner. To date, all individuals whose biological parents have been evaluated with molecular genetic testing have had a parent with a pathogenic CNBP CCTG repeat expansion; de novo pathogenic CCTG repeat expansions have not been reported. Each child of an individual with a CCTG repeat expansion has a 50% chance of inheriting the expansion. The CCTG repeat expansion shows size differences between generations in the same family. In general, the repeat size appears to contract when passed on to the subsequent generation and then to increase in size as the affected individual ages. There is no confirmed maternal or paternal preference for contraction or expansion. Anticipation is not confirmed in DM2. To date, there is no significant correlation between CCTG repeat size and age of onset of weakness or other measures of disease severity. Once the pathogenic CNBP CCTG repeat expansion has been identified in an affected family member, predictive testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301639\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1466"
-},
-{
- "id": "genereviews:NBK1142",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1142/",
- "title": "Progressive Myoclonic Epilepsy Type 1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Anna-Elina", "Lehesjoki"],
- ["Reetta", "K\u00e4lvi\u00e4inen"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling., The diagnosis of EPM1 is established in a proband with suggestive findings and either biallelic abnormal CCC-CGC-CCC-GCG dodecamer repeat expansions in CSTB or compound heterozygosity for a CSTB dodecamer repeat expansion and a CSTB sequence variant (i.e., single-nucleotide variant or indel) identified by molecular genetic testing., Treatment of manifestations: Symptomatic pharmacologic and rehabilitative management, including psychosocial support, are the mainstay of care; valproic acid, the first drug of choice, diminishes myoclonus and the frequency of generalized seizures; clonazepam, approved by FDA for the treatment of myoclonic seizures, is an add-on therapy; high-dose piracetam is used to treat myoclonus; levetiracetam, brivaracetam, and perampanel appear to be effective for both myoclonus and generalized seizures. Topiramate and zonisamide may also be used as add-on therapy. Surveillance: Lifelong clinical follow up including evaluation of drug treatment and rehabilitation. Agents/circumstances to avoid: Phenytoin aggravates neurologic symptoms or even accelerates cerebellar degeneration; sodium channel blockers (carbamazepine, oxcarbazepine), GABAergic drugs (tiagabine, vigabatrin), and gabapentin and pregabalin may aggravate myoclonus and myoclonic seizures., EPM1 is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once both CSTB pathogenic variants in a family are known, carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301321\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1142"
-},
-{
- "id": "genereviews:NBK1441",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1441/",
- "title": "Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Hannah", "Verdin"],
- ["Charlotte", "Matton"],
- ["Elfride", "De Baere"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears., The diagnosis of BPES is established in a proband with suggestive findings and a heterozygous pathogenic variant in FOXL2 or its regulatory domain identified by molecular genetic testing., Treatment of manifestations: Management requires the input of a multidisciplinary team of specialists. Eyelid surgery traditionally involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at age three to five years, typically followed a year later by ptosis correction. Primary ovarian insufficiency is managed by hormone replacement therapy; fertility is addressed with reproductive technologies such as embryo donation, egg donation, and cryopreservation strategies. Surveillance: Ophthalmic follow up depends on age, procedures performed in the past, and results of visual acuity testing. Endocrinologic and gynecologic follow up are advised for affected females. Psychological follow up is recommended., BPES is almost always inherited in an autosomal dominant manner. More than half of individuals diagnosed with BPES have the disorder as the result of a pathogenic variant inherited from an affected parent. Each child of an individual with BPES has a 50% chance of inheriting the pathogenic variant. Once the BPES-causing pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for BPES are possible.",
- "language": "eng",
- "note": "PMID: 20301614\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1441"
-},
-{
- "id": "genereviews:NBK1529",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1529/",
- "title": "Huntington Disease-Like 2",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["David G.", "Anderson"],
- ["Amanda", "Krause"],
- ["Russell L.", "Margolis"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities that lead to death within ten to 20 years. HDL2 cannot be differentiated from Huntington disease (HD) clinically. Neurologic abnormalities include chorea, hypokinesia (rigidity, bradykinesia), dysarthria, abnormalities of eye movements and gait, and hyperreflexia in the later stages of the disease. There is a strong correlation between the duration of the disease and the progression of motor and cognitive signs and symptoms., The diagnosis of HDL2 is established in a proband with characteristic clinical findings and heterozygous expansion of 40 or more CTG trinucleotide repeats in JPH3 identified by molecular genetic testing., Treatment of manifestations: Treatment is symptomatic and is presumably similar to that for HD and other neurodegenerative disorders \u2013 although this must be considered speculative pending objective data. Pharmacologic agents that may suppress abnormal movements include tetrabenazine and its derivatives or low-dose neuroleptic agents such as fluphenazine and haloperidol. Remove loose rugs and clutter from the individual's home and minimize or eliminate the need for stairs to help prevent falls and other injuries; physical therapy evaluation and treatment for mobility issues; speech therapy, communication devices, and environmental modifications for dysarthria; speech-language pathology and nutrition referrals for dysphagia; food should be prepared in such a manner as to prevent choking; feeding changes when needed to minimize risk of aspiration; driving may need to be curtailed or limited to prevent risk of accidents; planning for financial matters; environmental interventions for cognitive issues; antidepressants, antipsychotics, mood stabilizers (lithium, valproic acid, carbamazepine, and lamotrigine), electroconvulsive therapy, and occasionally stimulants may improve psychiatric manifestations. Education about the course of disease; social work and care coordination support. Surveillance: Annual evaluation or more frequently as needed to assess motor skills including gait and abnormal movements; physical therapy assessment of mobility and appropriate strategies or devices to minimize falls; assess cognitive skills and driving safety to assure that affected individuals do not present a danger to themselves or others; assess weight, nutrition, swallowing, and risk of aspiration in order to implement feeding changes when necessary; assess for psychiatric manifestations, including mood, suicidality, anxiety, irritability, and apathy; assess sleep and sexual concerns; assess family needs; assess planning for future (financial, legal issues). Agents/circumstances to avoid: Any agents that increase ataxia should be used with caution; begin psychoactive medicines at lower doses and increase doses carefully; minimize polypharmacy, which may increase the risk of delirium., HDL2 is inherited in an autosomal dominant manner. Most individuals with HDL2 have an affected parent. At conception, each child of an individual with HDL2 has a 50% chance of inheriting the HDL2-causing allele. Offspring who inherit a pathogenic (full-penetrance) HDL2-causing allele (\u226540 CTG repeats) are considered at risk of developing HDL2 in their lifetime; offspring who inherit an allele of questionable significance (29-39 CTG repeats) may or may not develop manifestations of HDL2. Testing of asymptomatic adults at risk for HDL2 is possible once a heterozygous expansion of a CTG repeat in JPH3 has been identified in an affected family member. Testing for the JPH3 CTG repeat expansion in the absence of definite manifestations of the disease is predictive testing. Prudence suggests following the same genetic testing guidelines used for HD, including counseling prior to testing, a confidant to serve as a social support, and availability of counseling following the disclosure of genetic results. If the presence of an HDL2-causing allele has been confirmed in the affected parent or in an affected relative of the at-risk parent, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301701\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1529"
-},
-{
- "id": "url:medlineplus.gov/genetics/condition/fragile-xe-syndrome",
- "manubot_success": true,
- "title": "Fragile XE syndrome: MedlinePlus Genetics",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://medlineplus.gov/genetics/condition/fragile-xe-syndrome/",
- "abstract": "Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Explore symptoms, inheritance, genetics of this condition.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/fragile-xe-syndrome"
-},
-{
- "id": "url:https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias",
- "manubot_success": true,
- "title": "UpToDate",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias"
-},
-{
- "id": "url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents",
- "manubot_success": true,
- "title": "UpToDate",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents"
-},
-{
- "id": "url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/",
- "manubot_success": true,
- "title": "Nonsyndromic holoprosencephaly: MedlinePlus Genetics",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "link": "https://medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/",
- "abstract": "Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Explore symptoms, inheritance, genetics of this condition.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/"
-},
-{
- "id": "doi:10.17161/2tmg0f25",
- "manubot_success": true,
- "title": "A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase",
- "type": "article-journal",
- "doi": "10.17161/2tmg0f25",
- "authors": [
- ["Joseph", "Conway"],
- ["Yuebing", "Li"],
- ["Sakhi", "Bhansali"]
- ],
- "publisher": "RRNMF Neuromuscular Journal",
- "issn": "",
- "date": "2024-12-17",
- "link": "https://doi.org/g8wt7z",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.17161/2tmg0f25"
-},
-{
- "id": "doi:10.21203/rs.3.rs-5989910/v1",
- "manubot_success": true,
- "title": "Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onset",
- "type": "manuscript",
- "doi": "10.21203/rs.3.rs-5989910/v1",
- "authors": [
- ["Kamilla", "Sedov"],
- ["Carla", "Manrique-Enciso"],
- ["Madison James", "Yang"],
- ["Ismael", "Araujo-Aliaga"],
- ["Egor", "Dolzhenko"],
- ["Samantha", "Kalla"],
- ["Sarah", "Kingan"],
- ["Elison", "Sarapura-Castro"],
- ["Andrea", "Rivera-Valdivia"],
- ["Maryenela", "Illanes-Manrique"],
- ["Mario", "Cornejo-Olivas"],
- ["Birgitt", "Schuele"]
- ],
- "publisher": "Springer Science and Business Media LLC",
- "issn": "",
- "date": "2025-02-12",
- "link": "https://doi.org/g9bpfv",
- "abstract": "Abstract\n Objectives: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by large intronic expansions of pentanucleotide repeats in the ATXN10 gene. While various repeat motifs have been described, emerging evidence suggests that specific repeat motifs\u2014rather than merely repeat length alone\u2014can significantly modify disease features such as seizure prevalence and penetrance.\nMethods: We employed a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigate potential genotype-phenotype correlations in index cases of six clinically well-characterized multigenerational SCA10 kindreds from Peru.\nResults: We detected ATXN10 repeat expansions ranging from 990 to 2002 pentanucleotide repeats (4.9 to 10 kb expansions) across six families. Importantly, we identified three mixed repeat motif patterns and ratios of (ATTCT)\u2099(ATTCC)\u2099, which were associated with differences in age at disease onset and anticipation.\nDiscussion: Specific ATXN10 repeat motif patterns and (ATTCT)n(ATTCC)n motif ratios may serve as modifiers of SCA10 age at onset rather than repeat length. ATXN10 repeat composition can only be fully resolved with long-read sequencing and makes it a fundamental diagnostic for clinical practice and genetic counseling. These findings underscore the need to adapt long-read sequencing clinical workflows to fully characterize large repeat expansions at the nucleotide level.
",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.21203/rs.3.rs-5989910/v1"
-},
-{
- "id": "doi:10.1101/gr.279634.124",
- "manubot_success": true,
- "title": "A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia",
- "type": "article-journal",
- "doi": "10.1101/gr.279634.124",
- "authors": [
- ["Haloom", "Rafehi"],
- ["Liam G.", "Fearnley"],
- ["Justin", "Read"],
- ["Penny", "Snell"],
- ["Kayli C.", "Davies"],
- ["Liam", "Scott"],
- ["Greta", "Gillies"],
- ["Genevieve C.", "Thompson"],
- ["Tess A.", "Field"],
- ["Aleena", "Eldo"],
- ["Simon", "Bodek"],
- ["Ernest", "Butler"],
- ["Luke", "Chen"],
- ["John", "Drago"],
- ["Himanshu", "Goel"],
- ["Anna", "Hackett"],
- ["G. Michael", "Halmagyi"],
- ["Andrew", "Hannaford"],
- ["Katya", "Kotschet"],
- ["Kishore R.", "Kumar"],
- ["Smitha", "Kumble"],
- ["Matthew", "Lee-Archer"],
- ["Abhishek", "Malhotra"],
- ["Mark", "Paine"],
- ["Michael", "Poon"],
- ["Kate", "Pope"],
- ["Katrina", "Reardon"],
- ["Steven", "Ring"],
- ["Anne", "Ronan"],
- ["Matthew", "Silsby"],
- ["Renee", "Smyth"],
- ["Chloe", "Stutterd"],
- ["Mathew", "Wallis"],
- ["John", "Waterston"],
- ["Thomas", "Wellings"],
- ["Kirsty", "West"],
- ["Christine", "Wools"],
- ["Kathy H.C.", "Wu"],
- ["David J.", "Szmulewicz"],
- ["Martin B.", "Delatycki"],
- ["Melanie", "Bahlo"],
- ["Paul J.", "Lockhart"]
- ],
- "publisher": "Genome Research",
- "issn": "",
- "date": "2025-02-27",
- "link": "https://doi.org/g9bpfw",
- "abstract": "\n The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnoses. Despite this, diagnostic testing is limited and inefficient, often utilizing single gene assays. This study evaluates the effectiveness of long- and short-read sequencing as diagnostic tools for CA. We recruited 110 individuals (48 females, 62 males) with a clinical diagnosis of CA. Short-read genome sequencing (SR-GS) was performed to identify pathogenic RE and also non-RE variants in 356 genes associated with CA. Independently, long-read sequencing with adaptive sampling (LR-AS) was performed to identify pathogenic RE. SR-GS provided a genetic diagnosis for 38% of the cohort (40/110) including seven non-RE pathogenic variants. RE causes disease in 33 individuals, with the most common condition being SCA27B (\n n\n = 24). In comparison, LR-AS identified pathogenic RE in 29 individuals. RE identification for the two methods was concordant apart from four SCA27B cases not detected by LR-AS due to low read depth. For both technologies manual review of the RE alignment enhances diagnostic outcomes. Orthogonal testing for SCA27B revealed a 15% and 0% false positive rate for SR-GS and LR-AS, respectively. In conclusion, both technologies are powerful screening tools for CA. SR-GS is a mature technology currently used by diagnostic providers, requiring only minor changes in bioinformatic workflows to enable CA diagnostics. LR-AS offers considerable advantages in the context of RE detection and characterization but requires optimization before clinical implementation.\n ",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1101/gr.279634.124"
-},
-{
- "id": "doi:10.1212/NXG.0000000000200245",
- "manubot_success": true,
- "title": "Redefining the Pathogenic CAG Repeat Units Threshold in\n CACNA1A\n for Spinocerebellar Ataxia Type 6",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200245",
- "authors": [
- ["Yuya", "Hatano"],
- ["Tomohiko", "Ishihara"],
- ["Sachiko", "Hirokawa"],
- ["Hidetoshi", "Date"],
- ["Yuji", "Takahashi"],
- ["Hidehiro", "Mizusawa"],
- ["Osamu", "Onodera"]
- ],
- "publisher": "Neurology Genetics",
- "issn": "",
- "date": "2025-04-01",
- "link": "https://doi.org/g86sm6",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1212/nxg.0000000000200245"
-},
-{
- "id": "doi:10.1016/j.mcp.2024.102005",
- "manubot_success": true,
- "title": "Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing",
- "type": "article-journal",
- "doi": "10.1016/j.mcp.2024.102005",
- "authors": [
- ["Ingrid", "Lojova"],
- ["Marcel", "Kucharik"],
- ["Zuzana", "P\u00f6s"],
- ["Andrej", "Balaz"],
- ["Andrea", "Zatkova"],
- ["Eva", "Tothova Tarova"],
- ["Jaroslav", "Budis"],
- ["Ludevit", "Kadasi"],
- ["Tomas", "Szemes"],
- ["Jan", "Radvanszky"]
- ],
- "publisher": "Molecular and Cellular Probes",
- "issn": "",
- "date": "2025-02-01",
- "link": "https://doi.org/g8zsb5",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1016/j.mcp.2024.102005"
-},
-{
- "id": "doi:10.1093/hmg/ddae186",
- "manubot_success": true,
- "title": "Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddae186",
- "authors": [
- ["Masayoshi", "Kamon"],
- ["Shuji", "Wakatsuki"],
- ["Masayuki", "Nakamori"],
- ["Masanori P", "Takahashi"],
- ["Madoka", "Mori-Yoshimura"],
- ["Hirofumi", "Komaki"],
- ["Toshiyuki", "Araki"]
- ],
- "publisher": "Human Molecular Genetics",
- "issn": "",
- "date": "2024-12-16",
- "link": "https://doi.org/g8zsb6",
- "abstract": "Abstract\n Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3\u2032 untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability. It has been demonstrated that DM1 patient-derived induced pluripotent stem cells (DM1-iPSCs) show repeat instability, in which involvement of mismatch repair proteins has been suggested. Here we identified ZNF850 as a novel CTG repeat expansion-related molecule in DM1-iPSCs. ZNF850 was downregulated in a DM1-iPSC clone whose CTG repeat is exceptionally stable. We found that RNAi-mediated ZNF850 downregulation in DM1-iPSCs significantly reduced the repeat expansion and resulting instability. In adult skeletal muscle tissue of DM1 patients, ZNF850 expression levels were positively correlated with the repeat size. Furthermore, we found that ZNF850 protein can bind to the expanded CTG repeat sequence, and is located in proximity to MutS\u03b2 components. These results suggest that ZNF850 might play a role in repeat instability in DM1 by recruiting MutS\u03b2 to the repeat sequence.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1093/hmg/ddae186"
-},
-{
- "id": "doi:10.1016/j.omsc.2023.100340",
- "manubot_success": true,
- "title": "Treatment of the median mandibular cleft in Richieri-Costa-Pereira syndrome with a customized total mandibular prosthesis: A case report",
- "type": "article-journal",
- "doi": "10.1016/j.omsc.2023.100340",
- "authors": [
- ["Ryuichi", "Hoshi"],
- ["Paula", "Marcella Silva Drago"],
- ["Henrique", "Mascarenhas Villela"],
- ["Gabriela", "Gayer Sheibler"],
- ["Daniel", "Serra Cassano"],
- ["Fernanda", "Barros Silva de Pedreira Barbosa"],
- ["Lissa", "Hoshi"],
- ["Isadora", "dos Santos Lima"]
- ],
- "publisher": "Oral and Maxillofacial Surgery Cases",
- "issn": "",
- "date": "2024-03-01",
- "link": "https://doi.org/g8rxvs",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1016/j.omsc.2023.100340"
-},
-{
- "id": "doi:10.1212/NXG.0000000000200253",
- "manubot_success": true,
- "title": "Involvement of the Superior Cerebellar Peduncles in GAA-\n FGF14\n Ataxia",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200253",
- "authors": [
- ["Shihan", "Chen"],
- ["Catherine", "Ashton"],
- ["Rawan", "Sakalla"],
- ["Guillemette", "Clement"],
- ["Sophie", "Planel"],
- ["C\u00e9line", "Bonnet"],
- ["Phillipa J.", "Lamont"],
- ["Karthik", "Kulanthaivelu"],
- ["Atchayaram", "Nalini"],
- ["Henry", "Houlden"],
- ["Antoine", "Duquette"],
- ["Marie-Jos\u00e9e", "Dicaire"],
- ["Pablo", "Iruzubieta Agudo"],
- ["Javier", "Ruiz-Martinez"],
- ["Enrique", "Marco De Lucas"],
- ["Rodrigo", "Sutil Berjon"],
- ["Jon", "Infante Ceberio"],
- ["Elisabetta", "Indelicato"],
- ["Sylvia M.", "Boesch"],
- ["Matthis", "Synofzik"],
- ["Benjamin", "Bender"],
- ["Matt C.", "Danzi"],
- ["Stephan", "Zuchner"],
- ["David", "Pellerin"],
- ["Bernard", "Brais"],
- ["Mathilde", "Renaud"],
- ["Roberta", "La Piana"]
- ],
- "publisher": "Neurology Genetics",
- "issn": "",
- "date": "2025-04-01",
- "link": "https://doi.org/g9bpfx",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1212/nxg.0000000000200253"
-},
-{
- "id": "doi:https://doi.org/10.64898/2026.05.08.26352223",
- "manubot_success": true,
- "title": "Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability",
- "type": "report",
- "doi": "https://doi.org/10.64898/2026.05.08.26352223",
- "authors": [
- ["Harriet", "Cullen"],
- ["Christopher", "Clarkson"],
- ["Henrique", "Nascimento"],
- ["Matteo", "Zanovello"],
- ["Jeffrey", "Long"],
- ["Mark", "Caulfield"],
- ["Michael", "Simpson"],
- ["Sarah J", "Tabrizi"],
- ["Arianna", "Tucci"]
- ],
- "publisher": "Genetic and Genomic Medicine",
- "issn": "",
- "date": "2026-05-12",
- "link": "https://doi.org/hb6bxr",
- "abstract": "Abstract\r\n \r\n Huntington\u2019s disease is caused by a CAG repeat expansion in the Huntingtin gene (\r\n HTT\r\n ) above a pathogenic threshold; however, the biological consequences of repeat-length variation below this threshold remain poorly understood. Using whole-genome sequencing and linked phenotypic data from UK Biobank participants, we show that repeat-length variation within the normal and intermediate range is associated with measurable differences in brain volume, neuropsychiatric risk, and cognitive processing, and that only one third of pathogenic allele carriers have a recorded clinical diagnosis.\r\n \r\n \r\n Analyses were performed in 474,446 UK Biobank participants, including 30,052 with intermediate repeats (27\r\n \u2013\r\n 35), 873 with reduced-penetrance repeats (36\r\n \u2013\r\n 39), and 155 with pathogenic repeats (\u226540); 48,378 individuals had structural MRI. For quantitative phenotypes (brain volumes and cognition), associations with continuous repeat length were modelled using linear regression within the normal and intermediate range (\u226435 repeats); deviation at \u226536 repeats was defined as departure from the extrapolated linear trend. For clinical outcomes (depression, anxiety, dementia, and delirium), repeat length was analysed categorically using Kaplan\u2013Meier and Cox proportional hazards models with age as the timescale.\r\n \r\n \r\n Within the normal and intermediate range, longer\r\n HTT\r\n CAG repeat length was associated with smaller subcortical and global brain volumes, including the accumbens, putamen, thalamus, hippocampus, and total grey and white matter, with effects amplified in older individuals. Intermediate alleles were associated with an increase in age-dependent depression risk (HR = 1.05, 95% CI 1.02\r\n \u2013\r\n 1.10) and longer repeat length within the normal and intermediate range predicted faster reaction time, a pattern that reversed sharply at pathogenic lengths. Among carriers of 40\u201341 CAG repeats, only 42% (95% CI 19\u201359%) had received a recorded Huntington\u2019s disease diagnosis by age 84; however, the majority of pathogenic allele carriers who underwent neuroimaging met biomarker criteria for Stage 1 disease, indicating that early neurodegeneration is present in these individuals.\r\n \r\n \r\n This work challenges the current understanding of the\r\n HTT\r\n CAG repeat length as a purely categorical determinant of monogenic disease and shows that repeat length acts as a quantitative modifier of brain structure and neuropsychiatric vulnerability across the population. These findings have implications for risk prediction, penetrance estimation, and the interpretation of repeat variation in population genomics.",
- "language": "en",
- "note": "DOI: 10.64898/2026.05.08.26352223\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.64898/2026.05.08.26352223"
-},
-{
- "id": "doi:10.1101/2025.03.31.646505",
- "manubot_success": true,
- "title": "Targeted sequencing and iterative assembly of near-complete genomes",
- "type": "manuscript",
- "doi": "10.1101/2025.03.31.646505",
- "authors": [
- ["Hasindu", "Gamaarachchi"],
- ["Igor", "Stevanovski"],
- ["Jillian M.", "Hammond"],
- ["Andre L.M.", "Reis"],
- ["Melissa", "Rapadas"],
- ["Kavindu", "Jayasooriya"],
- ["Tonia", "Russell"],
- ["Dennis", "Yeow"],
- ["Yvonne", "Hort"],
- ["Chirag", "Patel"],
- ["Andrew J.", "Mallett"],
- ["Elaine", "Stackpoole"],
- ["Lauren", "Roman"],
- ["Luke W.", "Silver"],
- ["Carolyn J.", "Hogg"],
- ["Louise", "Streeting"],
- ["Ozren", "Bogdanovic"],
- ["Renata", "Rodrigues"],
- ["Luis", "Nascimento"],
- ["Adauto Lima", "Cardoso"],
- ["Arthur", "Georges"],
- ["Haoyu", "Cheng"],
- ["Hardip R.", "Patel"],
- ["Kishore R.", "Kumar"],
- ["Amali C.", "Mallawaarachchi"],
- ["Ira W.", "Deveson"]
- ],
- "publisher": "openRxiv",
- "issn": "",
- "date": "2025-04-04",
- "link": "https://doi.org/g9rz2k",
- "abstract": "Advances in long-read sequencing (LRS) and assembly algorithms have made it possible to create highly complete genome assemblies for humans, animals and plants. However, ongoing development is needed to improve accessibility, affordability, and assembly quality and completeness. 'Cornetto' is a new strategy in which we use programmable selective nanopore sequencing to focus LRS data production onto the unsolved regions of a nascent assembly. This improves assembly quality and streamlines the process, both for humans and non-human vertebrates. Cornetto enables us to generate highly complete diploid human genome assemblies using only nanopore LRS data, surpassing the quality of previous efforts at a fraction of the cost. Cornetto enables genome assembly from challenging sample types like human saliva. Finally, we obtain accurate assemblies for clinically-relevant repetitive loci at the extremes of the genome, demonstrating valid approaches for genetic diagnosis in facioscapulohumeral muscular dystrophy (FSHD) and MUC1-autosomal dominant tubulointerstitial kidney disease (MUC1-ADTKD).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1101/2025.03.31.646505"
-},
-{
- "id": "doi:10.1186/s12964-025-02079-1",
- "manubot_success": true,
- "title": "uN2CpolyG-mediated p65 nuclear sequestration suppresses the NF-\u03baB-NLRP3 pathway in neuronal intranuclear inclusion disease",
- "type": "article-journal",
- "doi": "10.1186/s12964-025-02079-1",
- "authors": [
- ["Yu", "Shen"],
- ["Kaiyan", "Jiang"],
- ["Dandan", "Tan"],
- ["Min", "Zhu"],
- ["Yusen", "Qiu"],
- ["Pencheng", "Huang"],
- ["Wenquan", "Zou"],
- ["Jianwen", "Deng"],
- ["Zhaoxia", "Wang"],
- ["Ying", "Xiong"],
- ["Daojun", "Hong"]
- ],
- "publisher": "Cell Communication and Signaling",
- "issn": "",
- "date": "2025-02-07",
- "link": "https://doi.org/g9bpfz",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1186/s12964-025-02079-1"
-},
-{
- "id": "doi:https://doi.org/10.1016/B978-0-444-63945-5.00013-1",
- "manubot_success": true,
- "title": "Genetic Creutzfeldt\u2013Jakob disease",
- "type": "chapter",
- "doi": "https://doi.org/10.1016/b978-0-444-63945-5.00013-1",
- "authors": [],
- "publisher": "Handbook of Clinical Neurology",
- "issn": "",
- "date": "2018-01-01",
- "link": "https://doi.org/hb6bxs",
- "abstract": "",
- "language": "en",
- "note": "DOI: 10.1016/B978-0-444-63945-5.00013-1\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.1016/b978-0-444-63945-5.00013-1"
-},
-{
- "id": "doi:10.1136/jnnp-2024-ABN.259",
- "manubot_success": true,
- "title": "RFC1 CANVAS: genotype phenotype correlations",
- "type": "paper-conference",
- "doi": "10.1136/jnnp-2024-abn.259",
- "authors": [
- ["Curro", "Riccardo"],
- ["Natalia", "Dominik"],
- ["Stojkovic", "Tanya"],
- ["Miller", "James"],
- ["Gosal", "David"],
- ["Hadivassiliou", "Marios"],
- ["Giunti", "Paola"],
- ["Henry", "Houlden"],
- ["Reilly", "Mary M"],
- ["Cortese", "Andrea"]
- ],
- "publisher": "RFC1 CANVAS: genotype phenotype correlations",
- "issn": "",
- "date": "2024-11-01",
- "link": "https://doi.org/g8rxvt",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1136/jnnp-2024-abn.259"
-},
-{
- "id": "doi:10.3892/br.2025.2016",
- "manubot_success": true,
- "title": "Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosis",
- "type": "article-journal",
- "doi": "10.3892/br.2025.2016",
- "authors": [
- ["Sunisa", "Kanchanasutthiyakorn"],
- ["Sakchai", "Chaiyamahapurk"],
- ["Siraprapa", "Tongkobpetch"],
- ["Kanokwan", "Santawong"],
- ["Chalurmpon", "Srichomthong"],
- ["Tippayakarn", "Klomchan"],
- ["Chaiyaporn", "Virochsangaroon"],
- ["Monnat", "Pongpanich"],
- ["Prateep", "Warnnissorn"],
- ["Sutatip", "Pongcharoen"],
- ["Vorasuk", "Shotelersuk"]
- ],
- "publisher": "Biomedical Reports",
- "issn": "",
- "date": "2025-06-12",
- "link": "https://doi.org/g9rjdq",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.3892/br.2025.2016"
-},
-{
- "id": "doi:10.1016/j.gimo.2024.101607",
- "manubot_success": true,
- "title": "P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly",
- "type": "article-journal",
- "doi": "10.1016/j.gimo.2024.101607",
- "authors": [
- ["Nichole", "Owen"],
- ["Liesbeth", "Vossaert"],
- ["Lorraine", "Potocki"],
- ["Elizabeth", "Mizerik"]
- ],
- "publisher": "Genetics in Medicine Open",
- "issn": "",
- "date": "2024-01-01",
- "link": "https://doi.org/g8rxvw",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1016/j.gimo.2024.101607"
-},
-{
- "id": "orphanet:481",
- "manubot_success": true,
- "link": "https://www.orpha.net/en/disease/detail/481",
- "title": "V\u00e9rification de la connexion...",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/481"
-},
-{
- "id": "orphanet:98934",
- "manubot_success": true,
- "link": "https://www.orpha.net/en/disease/detail/98934",
- "title": "V\u00e9rification de la connexion...",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/98934"
-},
-{
- "id": "orphanet:1452",
- "manubot_success": true,
- "link": "https://www.orpha.net/en/disease/detail/1452",
- "title": "V\u00e9rification de la connexion...",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/1452"
-},
-{
- "id": "orphanet:1425",
- "manubot_success": true,
- "link": "https://www.orpha.net/en/disease/detail/1425",
- "title": "V\u00e9rification de la connexion...",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/1425"
-},
-{
- "id": "orphanet:2162",
- "manubot_success": true,
- "link": "https://www.orpha.net/en/disease/detail/2162",
- "title": "V\u00e9rification de la connexion...",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/2162"
-},
-{
- "id": "stripy:C9ORF72",
- "manubot_success": true,
- "link": "https://stripy.org/database/C9ORF72",
- "title": "STRipy - STRs database (C9ORF72 locus)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "Information about short tandem repeats in the C9ORF72 locus (overview, repeat ranges, population-wide data and more).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://stripy.org/database/C9ORF72"
-},
-{
- "id": "stripy:NIPA1",
- "manubot_success": true,
- "link": "https://stripy.org/database/NIPA1",
- "title": "STRipy - STRs database (NIPA1 locus)",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "Information about short tandem repeats in the NIPA1 locus (overview, repeat ranges, population-wide data and more).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://stripy.org/database/NIPA1"
-},
-{
- "id": "gnomad:EIF4A3",
- "manubot_success": true,
- "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/EIF4A3?dataset=gnomad_r4",
- "title": "gnomAD",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/EIF4A3?dataset=gnomad_r4"
-},
-{
- "id": "gnomad:GIPC1",
- "manubot_success": true,
- "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/GIPC1?dataset=gnomad_r4",
- "title": "gnomAD",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/GIPC1?dataset=gnomad_r4"
-},
-{
- "id": "gnomad:RUNX2",
- "manubot_success": true,
- "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/RUNX2?dataset=gnomad_r4",
- "title": "gnomAD",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/RUNX2?dataset=gnomad_r4"
-},
-{
- "id": "gnomad:XYLT1",
- "manubot_success": true,
- "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4",
- "title": "gnomAD",
- "type": "webpage",
- "doi": "",
- "authors": [],
- "publisher": "",
- "issn": "",
- "date": "",
- "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4"
-},
-{
- "id": "genereviews:NBK1123",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1123/",
- "title": "Multiple Epiphyseal Dysplasia, Autosomal Dominant",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Michael D.", "Briggs"],
- ["Michael J.", "Wright"],
- ["Geert R.", "Mortier"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints., The diagnosis of autosomal dominant MED is established in a proband with typical clinical and radiographic findings and/or a heterozygous pathogenic variant in COL9A1, COL9A2, COL9A3, COMP, or MATN3 identified by molecular genetic testing., Treatment of manifestations: For pain control, a combination of analgesics and physiotherapy including hydrotherapy; referral to a rheumatologist or pain specialist as needed; consideration of realignment osteotomy and/or acetabular osteotomy to limit joint destruction and development of osteoarthritis. Consider total joint arthroplasty if the degenerative hip changes cause uncontrollable pain/dysfunction. Offer psychosocial support addressing issues of short stature, chronic pain, disability, and employment. Surveillance: Evaluation by an orthopedic surgeon for chronic pain and/or limb deformities (genu varum, genu valgum). Agents/circumstances to avoid: Obesity; exercise causing repetitive strain on affected joints., By definition, autosomal dominant MED is inherited in an autosomal dominant manner. Many individuals with autosomal dominant MED have an affected parent. The proportion of individuals with autosomal dominant MED who have the disorder as the result of a de novo pathogenic variant is unknown. Each child of an individual with autosomal dominant MED has a 50% chance of inheriting the pathogenic variant. Once the autosomal dominant MED-related pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301302\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1123"
-},
-{
- "id": "genereviews:NBK599589",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK599589/",
- "title": "GAA-FGF14-Related Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["David", "Pellerin"],
- ["Matt", "Danzi"],
- ["Mathilde", "Renaud"],
- ["Henry", "Houlden"],
- ["Matthis", "Synofzik"],
- ["Stephan", "Zuchner"],
- ["Bernard", "Brais"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "GAA-FGF14-related ataxia is a mid to late adult-onset slowly progressive cerebellar syndrome with predominant gait involvement. Median age at onset is 60 years (range: 21-87 years). Nearly 50% of individuals may first experience episodic manifestations including gait and limb ataxia, visual disturbances (diplopia, oscillopsia, and blurring), vertigo and/or dizziness, or dysarthria on average two to four years before the onset of progressive ataxia. Episodic symptoms may persist after the onset of progressive ataxia and may be triggered by alcohol intake and physical activity. Although some individuals eventually require assistance with mobility, use of a wheelchair is less necessary than in other common hereditary spinocerebellar ataxias (e.g., SCA1, SCA2, and SCA3). Dysarthria does not develop in all individuals and often remains mild to moderate. Cerebellar oculomotor signs, including downbeat nystagmus, horizontal gaze-evoked nystagmus, and impaired visual fixation suppression of the vestibuloocular reflex, are common. Unilateral or bilateral vestibular hypofunction and tremor of the upper limbs may occur. Age of onset and clinical presentation can vary within the same family., The diagnosis of GAA-FGF14-related ataxia is established in a symptomatic individual with a compatible phenotype by the identification of a heterozygous (GAA)>300 repeat expansion in intron 1 of FGF14 by molecular genetic testing. Due to reduced penetrance of FGF14 (GAA)250-300 repeat expansions, the diagnosis of GAA-FGF14-related ataxia can also be established in symptomatic individuals with a (GAA)250-300 repeat expansion if their phenotype is compatible, other inherited causes of ataxia have been excluded, and, if possible, familial segregation with the disease is confirmed. Individuals whose phenotype differs significantly from GAA-FGF14-related ataxia should be screened for other causes of inherited ataxias., Treatment of manifestations: There is no cure for GAA-FGF14-related ataxia. The goals of treatment are to improve quality of life, maximize function, and reduce complications. This ideally involves multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, speech-language therapists, and psychologists. Preliminary studies have shown promising symptomatic benefits of 4-aminopyridine for ataxic symptoms and downbeat nystagmus. Surveillance: To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, regularly scheduled follow up by the treating specialists is recommended. Agents/circumstances to avoid: Inform affected individuals that alcohol intake and strenuous physical activity may precipitate episodes of ataxia and may exacerbate incoordination. Avoid medications with known toxicity to the cerebellum and the vestibular system., GAA-FGF14-related ataxia is inherited in an autosomal dominant manner. Most individuals diagnosed with GAA-FGF14-related ataxia inherit an abnormal GAA repeat expansion from a parent who has a high normal-size or likely pathogenic or pathogenic GAA repeat expansion (a parent with an abnormal GAA repeat expansion may or may not have manifestations of GAA-FGF14-related ataxia). Each child of an individual with GAA-FGF14-related ataxia has a 50% chance of inheriting the GAA-FGF14-related allele. The likelihood that offspring who inherit the GAA-FGF14-related allele will have a GAA repeat size in the pathogenic, reduced penetrance, or non-pathogenic range is influenced by intergenerational instability; the size of the GAA repeat is more likely to expand upon maternal transmission and to contract upon paternal transmission. Once a GAA repeat expansion has been identified in an affected family member, predictive testing for at-risk relatives and prenatal and preimplantation genetic testing for GAA-FGF14-related ataxia are possible. However, accurate prediction of future possible clinical manifestations in a fetus found to have an FGF14 GAA repeat expansion is not possible, and the current lack of knowledge regarding somatic instability of the repeat prenatally makes the interpretation of prenatal genetic test results challenging.",
- "language": "eng",
- "note": "PMID: 38271551\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK599589"
-},
-{
- "id": "genereviews:NBK1126",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1126/",
- "title": "Oculopharyngeal Muscular Dystrophy",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Capucine", "Trollet"],
- ["Alexis", "Boulinguiez"],
- ["Fanny", "Roth"],
- ["Tanya", "Stojkovic"],
- ["Gillian", "Butler-Browne"],
- ["Teresinha", "Evangelista"],
- ["Jean", "Lacau St Guily"],
- ["Pascale", "Richard"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some., The diagnosis of OPMD is established in a proband with a suggestive phenotype in whom either of the following genetic findings are identified: a heterozygous GCN trinucleotide repeat expansion of 11 to 18 repeats in the first exon of PABPN1 (~90% of affected individuals) or biallelic GCN trinucleotide repeat expansions that are either compound heterozygous (GCN[11] with a second expanded allele) or homozygous (GCN[11]+[11], GCN[12]+[12], GCN[13]+[13], etc.) (~10% of affected individuals)., Treatment of manifestations: Treatment for ptosis may include blepharoplasty by either resection of the levator palpebrea aponeurosis or frontal suspension of the eyelids. The initial treatment for dysphagia is dietary modification; surgical intervention for dysphagia should be considered when symptomatic dysphagia has a significant impact on quality of life. Physical and occupational therapy are encouraged; assistive devices may be necessary to prevent falls and assist with walking and mobility. Neuropsychological support as needed. Surveillance: Routine evaluation of: neuromuscular and oculomotor involvement; dysphagia including nutritional status and diet; respiratory function given the increased risk for both aspiration and nocturnal hypoventilation; and cognitive function including development of psychiatric symptoms., OPMD is inherited in an autosomal dominant manner. The risk to sibs of a proband depends on the genetic status of the parents of the proband: If one parent of a proband is heterozygous for a GCN repeat expansion in PABPN1 (GCN[11_18]+ [10]) and the other parent has two normal alleles (GCN[10]+[10]), the risk to the sibs of inheriting a GCN repeat expansion is 50%. If both parents of the proband are heterozygous for a GCN repeat expansion, sibs have a 25% risk of inheriting two GCN repeat expansions and a 50% risk of inheriting one GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent has two normal alleles, all sibs will inherit a GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent is heterozygous for a GCN repeat expansion, sibs of the proband have a 50% risk of inheriting biallelic GCN repeat expansions and 50% risk of inheriting one GCN repeat expansion. Sibs who inherit either one or two GCN repeat expansions will be affected.",
- "language": "eng",
- "note": "PMID: 20301305\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1126"
-},
-{
- "id": "genereviews:NBK1530",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1530/",
- "title": "Holoprosencephaly Overview",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Cedrik", "Tekendo-Ngongang"],
- ["Maximilian", "Muenke"],
- ["Paul", "Kruszka"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The purpose of this overview is to: 1.. Describe the clinical characteristics of holoprosencephaly; 2.. Review the genetic causes of holoprosencephaly; 3.. Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband; 4.. Inform genetic counseling of family members of an individual with holoprosencephaly.",
- "language": "eng",
- "note": "PMID: 20301702\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1530"
-},
-{
- "id": "genereviews:NBK1119",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1119/",
- "title": "Dystrophinopathies",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Basil T.", "Darras"],
- ["David K.", "Urion"],
- ["Partha S.", "Ghosh"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM., The diagnosis of a dystrophinopathy is established in a proband with the characteristic clinical findings and elevated CK concentration and/or by identification of a hemizygous pathogenic variant in DMD on molecular genetic testing in a male and of a heterozygous pathogenic variant in DMD on molecular genetic testing in a female. Females may present with a classic dystrophinopathy or may be asymptomatic carriers., Treatment of manifestations: ACE inhibitors are used with or without beta blockers for cardiomyopathy in both DMD and BMD phenotypes. Congestive heart failure is treated with diuretics and oxygen as needed; cardiac transplantation is offered to persons with severe dilated cardiomyopathy and BMD with limited or no clinical evidence of skeletal muscle disease. Scoliosis is treated with bracing and surgery. Corticosteroid therapy improves muscle strength and function for individuals with DMD between ages five and 15 years; the same treatment is used in BMD, although the efficacy is less clear. Dystrophin restoration therapies have been developed by using synthetic antisense oligonucleotides to restore the reading frame by exon skipping for individuals with specific pathogenic variants in DMD. Prevention of secondary complications: Evaluation by a pulmonologist and cardiologist before surgeries; pneumococcal and influenza immunizations annually; nutrition assessment; physical therapy to promote mobility and prevent contractures; sunshine and a balanced diet rich in vitamin D and calcium to improve bone density and reduce the risk of fractures; weight control to avoid obesity. Surveillance: For males with DMD or BMD: annual or biannual evaluation by a cardiologist beginning at the time of diagnosis; monitoring for scoliosis; baseline pulmonary function testing before wheelchair dependence; frequent evaluations by a pediatric pulmonologist. For heterozygous females: cardiac evaluation at least once after the teenage years. Agents/circumstances to avoid: Botulinum toxin injections; succinylcholine and inhalational anesthetics because of susceptibility to malignant hyperthermia or malignant hyperthermia-like reactions. Evaluation of relatives at risk: Early identification of heterozygous females who are at increased risk for cardiomyopathy and, thus, need routine cardiac surveillance and prompt treatment., The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the genetic status of the mother. Heterozygous females have a 50% chance of transmitting the DMD pathogenic variant in each pregnancy. Sons who inherit the pathogenic variant will be affected; daughters who inherit the pathogenic variant are heterozygous and may have a range of clinical manifestations. Males with DMD usually do not reproduce. Males with BMD or DMD-associated DCM may reproduce: all of their daughters are heterozygotes; none of their sons inherit their father's DMD pathogenic variant. Carrier testing for at-risk females, prenatal testing, and preimplantation genetic testing are possible if the DMD pathogenic variant in the family is known.",
- "language": "eng",
- "note": "PMID: 20301298\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1119"
-},
-{
- "id": "genereviews:NBK1165",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1165/",
- "title": "Myotonic Dystrophy Type 1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Thomas D.", "Bird"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common., DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal. Molecular genetic testing detects pathogenic variants in nearly 100% of affected individuals., Treatment of manifestations: Use of ankle-foot orthoses, wheelchairs, or other assistive devices; special education support for affected children; treatment of hypothyroidism; management of pain; consultation with a cardiologist for symptoms or EKG evidence of arrhythmia; removal of cataracts if vision is impaired; hormone replacement therapy for males with hypogonadism; surgical excision of pilomatrixoma and basal cell carcinomas. Prevention of secondary complications: Choice of induction agents, airway care, local anesthesia, and neuromuscular blockade to minimize complications during surgery; cardiac pacemakers or implantable cardioverter-defibrillators may prevent life-threatening arrhythmias; continue physical activity and maintain appropriate weight. Surveillance: Annual EKG or 24-hour Holter monitoring; annual measurement of fasting serum glucose concentration and glycosylated hemoglobin concentration; ophthalmology examination every two years; attention to nutritional status; polysomnography for sleep disturbances. Agents/circumstances to avoid: Cholesterol-lowering medications (i.e., statins), which can cause muscle pain and weakness; the anesthetic agent vecuronium; succinylcholine, propofol, and doxorubicin; smoking; obesity; illicit drug use; excessive alcohol intake. Evaluation of relatives at risk: Molecular genetic testing for early diagnosis of relatives at risk to allow treatment of cardiac manifestations, diabetes mellitus, and cataracts., DM1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele. Pathogenic alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent. Prenatal testing and preimplantation genetic testing are possible when the diagnosis of DM1 has been confirmed by molecular genetic testing in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301344\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1165"
-},
-{
- "id": "genereviews:NBK1184",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1184/",
- "title": "Spinocerebellar Ataxia Type 1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Puneet", "Opal"],
- ["Tetsuo", "Ashizawa"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of upgaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy., The diagnosis of SCA1 is established in a proband with characteristic clinical findings and an abnormal CAG repeat expansion in ATXN1 identified by molecular genetic testing. Affected individuals usually have 39 or more CAG repeats., Treatment of manifestations: Supportive care including adaptive devices, physical therapy, occupational therapy, avoidance of obesity; intensive rehabilitation (coordinative physiotherapy) may be beneficial; speech therapy and communication devices for dysarthria; video esophagram to help identify the consistency of food least likely to trigger aspiration and feeding devices may be indicated with recurrent aspiration; caloric support for those with weight loss; vitamin supplementation as needed; psychotherapy, neuropsychologic rehabilitation, and/or standard psychiatric treatments for cognitive and psychiatric manifestations; pharmacotherapy and/or referral to pain management as needed for pain. Surveillance: Every three to six months: neurologic assessment for progression of ataxia, and physiatry, occupational therapy, and physical therapy assessment for mobility and self-help skills; at each visit: assessment of access to communication, speech needs, aspiration risk, feeding needs, mood, psychiatric manifestations, cognition, and family needs. Agents/circumstances to avoid: Alcohol, medications known to cause nerve damage (e.g., isoniazid, large-dose vitamin B6), and circumstances that could lead to physical harm, such as operating machinery or climbing to great heights., SCA1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele. Anticipation has been observed in SCA1; expansions are more likely to occur when the pathogenic ATXN1 allele is paternally transmitted, and contractions are more typical of maternal transmissions. Once an abnormal CAG trinucleotide expansion in ATXN1 has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301363\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1184"
-},
-{
- "id": "genereviews:NBK1196",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1196/",
- "title": "Spinocerebellar Ataxia Type 3",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Henry", "Paulson"],
- ["Vikram", "Shakkottai"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses., The diagnosis of SCA3 is established in a proband with suggestive findings and a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN3 identified by molecular genetic testing., Treatment of manifestations: Management is supportive as no medication slows the course of disease. The goals of treatment are to maximize function and reduce complications. It is recommended that each individual be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, orthopedists, nutritionists, speech therapists, social workers, and psychologists. Various manifestations may respond to pharmacologic agents. Regular physical activity is recommended, including combined physical and occupational therapy focused on gait and coordination. Canes and walkers help prevent falling; motorized scooters, weighted eating utensils, and dressing hooks help to maintain independence. Speech therapy and communication devices may benefit those with dysarthria, and dietary modification those with dysphagia. Other recommendations include home adaptations to prevent falls and improve mobility, dietary supplements if caloric intake is reduced, weight control to facilitate ambulation and mobility, and caution with general anesthesia. Surveillance: Annual assessments (or more frequently as needed) of neurologic findings (e.g., dysarthria, dysphagia, bladder dysfunction, neuropathic pain, cognitive and psychiatric manifestations), weight and nutritional status, and social support., SCA3 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the ATXN3 CAG repeat expansion. Once the CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. Note: The prenatal finding of an ATXN3 CAG repeat expansion cannot be used to accurately predict onset, severity, type of symptoms, or rate of progression of SCA3.",
- "language": "eng",
- "note": "PMID: 20301375\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1196"
-},
-{
- "id": "genereviews:NBK1427",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1427/",
- "title": "Congenital Central Hypoventilation Syndrome",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Debra E.", "Weese-Mayer"],
- ["Casey M.", "Rand"],
- ["Ilya", "Khaytin"],
- ["Susan M.", "Slattery"],
- ["Kai Lee", "Yap"],
- ["Mary L.", "Marazita"],
- ["Elizabeth M.", "Berry-Kravis"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD., The diagnosis of CCHS is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant identified on molecular genetic testing., Treatment of manifestations: Management by multidisciplinary specialists, including pediatric pulmonology, sleep medicine, cardiology, oncology, ophthalmology, gastroenterology, neurodevelopmental psychology, and neurology, is recommended. The treatment goals for CCHS are to secure the airway and to use chronic artificial ventilatory support at home to compensate for the hypoventilation and the altered/absent ventilatory responses to hypoxemia and hypercarbia. Prolonged transient asystoles that may present as syncope and/or staring spells and are of significant duration (\u22653.0 seconds) may warrant placement of a cardiac pacemaker; abnormal pupillary reactivity may necessitate protective eye wear given the amount of light exposure in daily life from LED lights, and screen time in educational settings, computer-based work environments, and mobile devices. Other findings treated as per standard practice include Hirschsprung disease and other gastrointestinal motility issues; tumors of neural crest origin; and cognitive impairment/delay. Surveillance: Assess every six months for the first three years, then annually thereafter: (1) in a pediatric respiratory physiology laboratory spontaneous breathing awake (in varied age-appropriate activities of daily living during the daytime and before sleep) and asleep, with recording of respiratory inductance plethysmography of the chest and abdomen, hemoglobin saturation with pulse waveform, end-tidal carbon dioxide level with visible waveform, electrocardiogram, blood pressure, cerebral regional blood flow/oxygenation, and appropriate sleep state staging measures; (2) hemoglobin/hematocrit and reticulocyte count for polycythemia; (3) 72-hour Holter recording for abrupt, prolonged asystoles; (4) echocardiogram changes consistent with right ventricular hypertrophy and cor pulmonale; (5) neurocognitive assessment/educational needs; and (6) comprehensive age-appropriate noninvasive autonomic testing. Agents/circumstances to avoid: Swimming and breath-holding contests (risk of asphyxia, death); alcohol (respiratory depression), recreational drugs (varied effects including death), and prescription as well as non-prescription medications/sedatives/anesthetics that could induce respiratory depression. Evaluation of relatives at risk: It is appropriate to clarify the genetic status of parents, sibs, and offspring of an individual with CCHS in order to identify as early as possible family members who would benefit from prompt initiation of treatment, surveillance, and awareness of agents/circumstances to avoid., CCHS is typically inherited in an autosomal dominant manner (CCHS caused by biallelic reduced penetrance PHOX2B pathogenic variants has been reported in two families). The majority of affected individuals have the disorder as the result of a de novo pathogenic variant. Somatic/germline mosaicism is present in 5%-25% of asymptomatic parents. If a parent of the proband is known to be heterozygous for the PHOX2B pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%. Once the PHOX2B pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible (because of the high frequency of parental mosaicism in CCHS, a fetus should be considered at risk for CCHS even if the PHOX2B pathogenic variant detected in the proband was not identified in either parent).",
- "language": "eng",
- "note": "PMID: 20301600\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1427"
-},
-{
- "id": "genereviews:NBK541729",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK541729/",
- "title": "Spinocerebellar Ataxia Type 37",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Antoni", "Matilla-Due\u00f1as"],
- ["Victor", "Volpini"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset., The diagnosis of SCA37 is established in a proband by identification of a heterozygous ATTTC repeat insertion within DAB1 by molecular genetic testing. All affected persons have 31-75 ATTTC repeats, flanked on both sides by polymorphic ATTTT repeats over 58 units., Treatment of manifestations: Currently, no treatment reverts the course of the disease. Speech therapy to improve communication and ameliorate dysphagia; thickness modification of food and fluids to prevent aspiration; physical therapy to train balance; use of external devices (e.g., canes or walkers) when needed to avoid falls; occupational/behavioral therapy. Surveillance: Scale for the Assessment and Rating of Ataxia (SARA) score annually; electrooculographic tests may be performed every two years (cooperation required); brain MRI volumetry every two years., SCA37 is inherited in an autosomal dominant manner. All individuals diagnosed to date with SCA37 have an affected parent. Each child of an individual with SCA37 is at a 50% risk of inheriting the intronic ATTTC repeat insertion within DAB1. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the ATTTC repeat insertion within DAB1 has been identified in an affected family member.",
- "language": "eng",
- "note": "PMID: 31145571\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK541729"
-},
-{
- "id": "genereviews:NBK535148",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/books/NBK535148/",
- "title": "Resources for Genetics Professionals \u2014 Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Stephanie E.", "Wallace"],
- ["Lora JH", "Bean"]
- ],
- "publisher": "GeneReviews\u00ae [Internet]",
- "issn": "",
- "date": "2022-10-20",
- "abstract": "A nucleotide repeat is a sequence of nucleotides repeated a number of times in tandem; nucleotide repeats can occur within or near a gene. The size of nucleotide repeats varies: smaller numbers of repeats are common and not associated with phenotypic abnormalities; abnormally large numbers of repeats may be associated with phenotypic abnormalities and are classified as (in increasing order of size): mutable normal alleles, premutations, reduced-penetrance alleles, and full-penetrance alleles.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK535148"
-},
-{
- "id": "genereviews:NBK1333",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1333/",
- "title": "Spinal and Bulbar Muscular Atrophy",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Albert", "La Spada"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity., The diagnosis of SBMA is established in a male proband by the identification of a hemizygous expansion of a CAG trinucleotide repeat (>35 CAGs) in AR by molecular genetic testing., Treatment of manifestations: Use of braces and walkers for ambulation as needed as the disease progresses; standard treatments for dysarthria and dysphagia; breast reduction surgery for gynecomastia as needed; standard treatment per cardiologist and/or endocrinologist for cardiac manifestations and metabolic syndrome; psychosocial support and education to decrease stress and burden on caregivers. Surveillance: Annual assessment of strength, mobility, activities of daily living, speech, and feeding issues; annual assessment of pulmonary function in those with advanced disease; annual assessment of cholesterol and triglycerides, with hepatic function testing if elevated; annual assessment of cardiovascular health per cardiologist; assessment of need for family and caregiver support. Agents/circumstances to avoid: Individuals with a tendency to fall should avoid slippery or rough walking surfaces. Individuals with bulbar weakness should avoid foods that are difficult to chew and swallow, as these may pose a risk of choking or aspiration. Other: Clinical trials of anti-androgen drugs (e.g., leuprorelin) did not consistently reveal significant efficacy, but leuprorelin was efficacious as a treatment for dysphagia in a follow-up clinical trial in Japan, leading to its approval in Japan but not elsewhere. Based on animal studies, administration of testosterone and its analogs may worsen motor neuron disease., SBMA is inherited in an X-linked manner. Affected males who are fertile pass the expanded CAG repeat to each daughter. Carrier females have a 50% chance of transmitting the CAG trinucleotide expansion to each child; males who inherit it will be affected; females who inherit it will be carriers and will usually not be affected. Carrier testing for at-risk female relatives and prenatal testing for a pregnancy at increased risk are possible if the expanded CAG repeat has been identified in an affected family member.",
- "language": "eng",
- "note": "PMID: 20301508\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1333"
-},
-{
- "id": "genereviews:NBK1491",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1491/",
- "title": "DRPLA",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Silvia", "Prades"],
- ["Claudio", "Melo de Gusmao"],
- ["Silvia", "Grimaldi"],
- ["Yael", "Shiloh-Malawsky"],
- ["Thomas", "Felton"],
- ["Henry", "Houlden"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by five cardinal features (irrespective of the age of onset): ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Onset ranges from infancy to late adulthood (range: age 0-72 years; mean: age 31.5 years). The clinical presentation varies by age of onset: individuals with juvenile onset (before age 20 years) have myoclonus, epilepsy, and progressive intellectual deterioration, whereas individuals with adult onset (after age 20 years) have ataxia, choreoathetosis, and dementia or neuropsychiatric changes. Disease duration is on average eight years (range: 0-35 years) and age at death is on average 49 years (range: age 18-80 years)., The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a heterozygous pathogenic CAG trinucleotide expansion in ATN1 identified by molecular genetic testing., Treatment of manifestations: Standard anti-seizure medications (ASMs) for seizures; appropriate psychotropic medications for psychiatric manifestations; symptomatic treatment of ataxia with riluzole and rehabilitation therapy; adaptation of environment and care to the level of dementia; appropriate educational programs for children. Agents/circumstances to avoid: General anesthesia can increase the risk of intra- and postoperative seizures. Pregnancy management: Because the use of ASMs during pregnancy may have an effect on the fetus, discussion of the risks and benefits of using an ASM during pregnancy should ideally occur prior to conception when transition to a lower-risk medication may be possible. The use of riluzole during pregnancy has not been well studied in humans., DRPLA is inherited in an autosomal dominant manner. The risk to the children of an affected individual of inheriting an expanded CAG repeat is 50%. The size of the repeat transmitted to the offspring depends on the size of the parent's repeat and the sex of the transmitting parent. Once an abnormal CAG repeat expansion in ATN1 has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301664\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1491"
-},
-{
- "id": "genereviews:NBK1281",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1281/",
- "title": "Friedreich Ataxia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Sanjay I.", "Bidichandani"],
- ["Martin B.", "Delatycki"],
- ["Marek", "Napierala"],
- ["Antoine", "Duquette"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have \"typical Friedreich ataxia\" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have \"atypical Friedreich ataxia\" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR)., The diagnosis of Friedreich ataxia is established in a proband with suggestive findings and biallelic pathogenic variants in FXN identified by molecular genetic testing. The two classes of FXN pathogenic variants are (1) GAA repeat expansions and (2) FXN pathogenic sequence variants, including base substitutions and small indels or large deletions. Approximately 96% of individuals with FRDA have biallelic FXN GAA repeat expansions in intron 1; approximately 4% are compound heterozygotes for an FXN GAA repeat expansion and either an intragenic FXN pathogenic variant or a large deletion., Targeted therapy: Omaveloxolone, an Nrf2 activator, has been shown to slow the progression of FRDA; it is approved in the United States and Europe for individuals age 16 years and older. Supportive care: Multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, orthoptists, physical therapists, occupational therapists, cardiologists, endocrinologists, speech and language therapists, and psychologists. Surveillance: Routinely scheduled evaluations by the treating multidisciplinary specialists. Agents/circumstances to avoid: Use and misuse of illegal and controlled drugs, as they may affect neuronal well-being and, thus, exacerbate disease manifestations; medications that are toxic or potentially toxic to people with neuropathy; circumstances that increase the risk of falling (e.g., rough surfaces). Evaluation of relatives at risk: If at-risk minor and adult sibs of an individual with FRDA have not had testing for the FXN pathogenic variant(s) in their family, they should be offered echocardiography surveillance to determine if treatable cardiac manifestations of presymptomatic disease are present. Pregnancy management: Worsening, improving, or unchanged manifestations during pregnancy were each reported with equal frequency by women with FRDA. Close cardiac monitoring and regular testing for diabetes mellitus during pregnancy is recommended in any woman with FRDA. If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible., FRDA is inherited in an autosomal recessive manner. If both parents are heterozygous for a pathogenic variant in FXN, each sib of an affected individual has at conception a 25% chance of inheriting biallelic FRDA-related genetic alterations, a 50% chance of inheriting one FRDA-related genetic alteration, and a 25% chance of inheriting neither of the familial FRDA-related genetic alterations. Sibs who inherit biallelic FXN pathogenic variants will be affected. Once the FRDA-related genetic alterations have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301458\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1281"
-},
-{
- "id": "pmid:40015980",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40015980",
- "title": "A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.",
- "type": "article-journal",
- "doi": "10.1101/gr.279634.124",
- "authors": [
- ["Haloom", "Rafehi"],
- ["Liam G", "Fearnley"],
- ["Justin", "Read"],
- ["Penny", "Snell"],
- ["Kayli C", "Davies"],
- ["Liam", "Scott"],
- ["Greta", "Gillies"],
- ["Genevieve C", "Thompson"],
- ["Tess A", "Field"],
- ["Aleena", "Eldo"],
- ["Simon", "Bodek"],
- ["Ernest", "Butler"],
- ["Luke", "Chen"],
- ["John", "Drago"],
- ["Himanshu", "Goel"],
- ["Anna", "Hackett"],
- ["G Michael", "Halmagyi"],
- ["Andrew", "Hannaford"],
- ["Katya", "Kotschet"],
- ["Kishore R", "Kumar"],
- ["Smitha", "Kumble"],
- ["Matthew", "Lee-Archer"],
- ["Abhishek", "Malhotra"],
- ["Mark", "Paine"],
- ["Michael", "Poon"],
- ["Kate", "Pope"],
- ["Katrina", "Reardon"],
- ["Steven", "Ring"],
- ["Anne", "Ronan"],
- ["Matthew", "Silsby"],
- ["Renee", "Smyth"],
- ["Chloe", "Stutterd"],
- ["Mathew", "Wallis"],
- ["John", "Waterston"],
- ["Thomas", "Wellings"],
- ["Kirsty", "West"],
- ["Christine", "Wools"],
- ["Kathy H C", "Wu"],
- ["David J", "Szmulewicz"],
- ["Martin B", "Delatycki"],
- ["Melanie", "Bahlo"],
- ["Paul J", "Lockhart"]
- ],
- "publisher": "Genome research",
- "issn": "1549-5469",
- "date": "2025-04-14",
- "abstract": "The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnoses. Despite this, diagnostic testing is limited and inefficient, often utilizing single gene assays. This study evaluates the effectiveness of long- and short-read sequencing as diagnostic tools for CA. We recruited 110 individuals (48 females, 62 males) with a clinical diagnosis of CA. Short-read genome sequencing (SR-GS) was performed to identify pathogenic RE and also non-RE variants in 356 genes associated with CA. Independently, long-read sequencing with adaptive sampling (LR-AS) was performed to identify pathogenic RE. SR-GS provided a genetic diagnosis for 38% of the cohort (40/110) including seven non-RE pathogenic variants. RE causes disease in 33 individuals, with the most common condition being SCA27B (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40015980"
-},
-{
- "id": "pmid:39996131",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39996131",
- "title": "Redefining the Pathogenic CAG Repeat Units Threshold in",
- "type": "article-journal",
- "doi": "10.1212/nxg.0000000000200245",
- "authors": [
- ["Yuya", "Hatano"],
- ["Tomohiko", "Ishihara"],
- ["Sachiko", "Hirokawa"],
- ["Hidetoshi", "Date"],
- ["Yuji", "Takahashi"],
- ["Hidehiro", "Mizusawa"],
- ["Osamu", "Onodera"]
- ],
- "publisher": "Neurology. Genetics",
- "issn": "2376-7839",
- "date": "2025-02-21",
- "abstract": "Spinocerebellar ataxia type 6 (SCA6) is caused by expansion of CAG repeat units (RUs) in",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39996131"
-},
-{
- "id": "pmid:41285770",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41285770",
- "title": "Targeted sequencing and iterative assembly of near-complete genomes.",
- "type": "article-journal",
- "doi": "10.1038/s41467-025-65410-x",
- "authors": [
- ["Hasindu", "Gamaarachchi"],
- ["Igor", "Stevanovski"],
- ["Jillian M", "Hammond"],
- ["Andre L", "M Reis"],
- ["Melissa", "Rapadas"],
- ["Kavindu", "Jayasooriya"],
- ["Tonia", "Russell"],
- ["Dennis", "Yeow"],
- ["Yvonne", "Hort"],
- ["Chirag", "Patel"],
- ["Andrew J", "Mallett"],
- ["Elaine", "Stackpoole"],
- ["Lauren", "Roman"],
- ["Luke W", "Silver"],
- ["Carolyn J", "Hogg"],
- ["Louise M", "Streeting"],
- ["Ozren", "Bogdanovic"],
- ["Renata", "Coelho Rodrigues Noronha"],
- ["Lu\u00eds Adriano", "Santos do Nascimento"],
- ["Adauto", "Lima Cardoso"],
- ["Arthur", "Georges"],
- ["Haoyu", "Cheng"],
- ["Hardip R", "Patel"],
- ["Kishore Raj", "Kumar"],
- ["Amali C", "Mallawaarachchi"],
- ["Ira W", "Deveson"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2025-11-24",
- "abstract": "Advances in long-read sequencing (LRS) and assembly algorithms have made it possible to create highly complete genome assemblies for humans, animals and plants. However, ongoing development is needed to improve accessibility, affordability, and assembly quality and completeness. 'Cornetto' is a new strategy in which we use programmable selective nanopore sequencing to focus LRS data production onto the unsolved regions of a nascent assembly. This improves assembly quality and streamlines the process, both for humans and non-human vertebrates. Cornetto enables us to generate highly complete diploid human genome assemblies using only nanopore LRS data, surpassing the quality of previous efforts at a fraction of the cost. Cornetto enables genome assembly from challenging sample types like human saliva. Finally, we obtain accurate assemblies for clinically-relevant repetitive loci at the extremes of the genome, demonstrating valid approaches for genetic diagnosis in facioscapulohumeral muscular dystrophy (FSHD) and MUC1-autosomal dominant tubulointerstitial kidney disease (MUC1-ADTKD).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41285770"
-},
-{
- "id": "pmid:36703300",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36703300",
- "title": "Neuropathology of spinocerebellar ataxia type 8: Common features and unique tauopathy.",
- "type": "article-journal",
- "doi": "10.1111/neup.12894",
- "authors": [
- ["Yuki", "Yonenobu"],
- ["Goichi", "Beck"],
- ["Kansuke", "Kido"],
- ["Norihisa", "Maeda"],
- ["Rika", "Yamashita"],
- ["Kimiko", "Inoue"],
- ["Yuko", "Saito"],
- ["Masato", "Hasegawa"],
- ["Hidefumi", "Ito"],
- ["Kazuko", "Hasegawa"],
- ["Eiichi", "Morii"],
- ["Toru", "Iwaki"],
- ["Shigeo", "Murayama"],
- ["Hideki", "Mochizuki"]
- ],
- "publisher": "Neuropathology : official journal of the Japanese Society of Neuropathology",
- "issn": "1440-1789",
- "date": "2023-01-26",
- "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ATXN8OS]). However, the pathological significance of this expansion remains unclear. Moreover, abnormal CTA/CTG repeat expansions in ATXN8OS have also been reported in other neurodegenerative diseases, including progressive supranuclear palsy. In this study, we analyzed all available autopsy cases in Japan to investigate common pathological features and profiles of tau pathology in each case. Severe neuronal loss in the substantia nigra and prominent loss of Purkinje cells, atrophy of the molecular layer, and proliferation of Bergmann glia in the cerebellum were common features. Regarding tauopathy, one case presented with progressive supranuclear palsy-like 4-repeat tauopathy in addition to mild Alzheimer-type 3- and 4-repeat tauopathy. Another case showed 3- and 4-repeat tauopathy accentuated in the brainstem. The other two cases lacked tauopathy after extensive immunohistochemical studies. The present study confirmed common pathological features of SCA8 as degeneration of the substantia nigra in addition to the cerebellum. Our study also confirmed unique tauopathy in two of four cases, indicating the necessity to further collect autopsy cases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36703300"
-},
-{
- "id": "pmid:33526774",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33526774",
- "title": "Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.",
- "type": "article-journal",
- "doi": "10.1038/s41398-021-01211-2",
- "authors": [
- ["Bahareh A", "Mojarad"],
- ["Yue", "Yin"],
- ["Roozbeh", "Manshaei"],
- ["Ian", "Backstrom"],
- ["Gregory", "Costain"],
- ["Tracy", "Heung"],
- ["Daniele", "Merico"],
- ["Christian R", "Marshall"],
- ["Anne S", "Bassett"],
- ["Ryan K C", "Yuen"]
- ],
- "publisher": "Translational psychiatry",
- "issn": "2158-3188",
- "date": "2021-02-01",
- "abstract": "The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults with schizophrenia from a well-characterized community-based cohort previously examined with chromosomal microarray for CNVs (none with 22q11.2 deletions). We analyzed these genomes for rare high-impact variants considered causal for neurodevelopmental disorders, including single-nucleotide variants (SNVs) and small insertions/deletions (indels), for potential clinical relevance based on findings for neurodevelopmental disorders. Also, we investigated a novel variant type, tandem repeat expansions (TREs), in 45 loci known to be associated with monogenic neurological diseases. We found several of these variants in this schizophrenia population suggesting that these variants have a wider clinical spectrum than previously thought. In addition to known pathogenic CNVs, we identified 11 (4.3%) individuals with clinically relevant SNVs/indels in genes converging on schizophrenia-relevant pathways. Clinical yield was significantly enriched in females and in those with broadly defined learning/intellectual disabilities. Genome analyses also identified variants with potential clinical implications, including TREs (one in DMPK; two in ATXN8OS) and ultra-rare loss-of-function SNVs in ZMYM2 (a novel candidate gene for schizophrenia). Of the 233 individuals with no pathogenic CNVs, we identified rare high-impact variants (i.e., clinically relevant or with potential clinical implications) for 14 individuals (6.0%); some had multiple rare high-impact variants. Mean schizophrenia polygenic risk score was similar between individuals with and without clinically relevant rare genetic variation; common variants were not sufficient for clinical application. These findings broaden the individual and global picture of clinically relevant genetic risk in schizophrenia, and suggest the potential translational value of genome sequencing as a single genetic technology for schizophrenia.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33526774"
-},
-{
- "id": "pmid:31471687",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/31471687",
- "title": "Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.",
- "type": "article-journal",
- "doi": "10.1007/s00415-019-09519-2",
- "authors": [
- ["Yao", "Zhou"],
- ["Yanchun", "Yuan"],
- ["Zhen", "Liu"],
- ["Sheng", "Zeng"],
- ["Zhao", "Chen"],
- ["Lu", "Shen"],
- ["Hong", "Jiang"],
- ["Kun", "Xia"],
- ["Beisha", "Tang"],
- ["Junling", "Wang"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2019-08-30",
- "abstract": "Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31471687"
-},
-{
- "id": "pmid:30075745",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30075745",
- "title": "Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.",
- "type": "article-journal",
- "doi": "10.1186/s40478-018-0579-0",
- "authors": [
- ["Petra", "Frick"],
- ["Chantal", "Sellier"],
- ["Ian R A", "Mackenzie"],
- ["Chieh-Yu", "Cheng"],
- ["Julie", "Tahraoui-Bories"],
- ["Cecile", "Martinat"],
- ["R Jeroen", "Pasterkamp"],
- ["Johannes", "Prudlo"],
- ["Dieter", "Edbauer"],
- ["Mustapha", "Oulad-Abdelghani"],
- ["Regina", "Feederle"],
- ["Nicolas", "Charlet-Berguerand"],
- ["Manuela", "Neumann"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2018-08-03",
- "abstract": "Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. Haploinsufficiency has been proposed as one potential mechanism. However, insights if and how reduced C9orf72 proteins levels might contribute to disease pathogenesis are still limited because C9orf72 expression, localization and functions in the central nervous system (CNS) are uncertain, in part due to the poor specificity of currently available C9orf72 antibodies.Here, we generated and characterized novel knock-out validated monoclonal rat and mouse antibodies against C9orf72. We found that C9orf72 is a low abundant, cytoplasmic, highly soluble protein with the long 481 amino acid isoform being the predominant, if not exclusively, expressed protein isoform in mouse tissues and human brain. As consequence of the C9orf72 repeat expansion, C9orf72 protein levels in the cerebellum were reduced to 80% in our series of C9orf72 mutation carriers (n\u2009=\u200917) compared to controls (n\u2009=\u200926). However, no associations between cerebellar protein levels and clinical phenotypes were seen. Finally, by utilizing complementary immunohistochemical and biochemical approaches including analysis of human iPSC derived motor neurons, we identified C9orf72, in addition to its association to lysosomes, to be localized to the presynapses and able to interact with all members of the RAB3 protein family, suggestive of a role for C9orf72 in regulating synaptic vesicle functions by potentially acting as guanine nucleotide exchange factor for RAB3 proteins.In conclusion, our findings provide further evidence for haploinsufficiency as potential mechanism in C9orf72 pathogenesis by demonstrating reduced protein levels in C9orf72 mutation carriers and important novel insights into the physiological role of C9orf72 in the CNS. Moreover, the described novel monoclonal C9orf72 antibodies will be useful tools to further dissect the cellular and molecular functions of C9orf72.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30075745"
-},
-{
- "id": "pmid:8826482",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8826482",
- "title": "Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.",
- "type": "article-journal",
- "doi": "10.1002/(sici)1096-8628(19960712)64:1<234::aid-ajmg42>3.0.co;2-l",
- "authors": [
- ["M", "Syrrou"],
- ["P C", "Patsalis"],
- ["I", "Georgiou"],
- ["M I", "Hadjimarcou"],
- ["C D", "Constantinou-Deltas"],
- ["G", "Pagoulatos"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "1996-07-12",
- "abstract": "The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of \"founder\" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8826482"
-},
-{
- "id": "pmid:41849610",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849610",
- "title": "Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.",
- "type": "article-journal",
- "doi": "10.1126/sciadv.aea8052",
- "authors": [
- ["Yuanyi", "Dai"],
- ["Zuliayeti", "Abudujielili"],
- ["Yunyi", "Ding"],
- ["Wanping", "Huang"],
- ["Jianhang", "Yin"],
- ["Liqiong", "Ou"],
- ["Jiazhi", "Hu"],
- ["Sushuang", "Zheng"],
- ["Chenjian", "Li"]
- ],
- "publisher": "Science advances",
- "issn": "2375-2548",
- "date": "2026-03-18",
- "abstract": "Huntington's disease (HD) is a monogenic autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849610"
-},
-{
- "id": "pmid:41849583",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41849583",
- "title": "Lowering the",
- "type": "article-journal",
- "doi": "10.1126/scitranslmed.adw2495",
- "authors": [
- ["Aikaterini Smaragdi", "Papadopoulou"],
- ["Julia", "Alterman"],
- ["Christian", "Landles"],
- ["Edward J", "Smith"],
- ["Faith", "Conroy"],
- ["Jemima", "Phillips"],
- ["Maria", "Canibano-Pico"],
- ["Iulia M", "Nita"],
- ["Georgina F", "Osborne"],
- ["Arzo", "Iqbal"],
- ["Sarah G", "Aldous"],
- ["Marie K", "Bondulich"],
- ["Casandra", "Gomez-Paredes"],
- ["Kirupa", "Sathasivam"],
- ["Daniel", "O'Reilly"],
- ["Dimas", "Echeverria"],
- ["Konstantin", "Bobkov"],
- ["Jonathan R", "Greene"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"],
- ["Gillian P", "Bates"]
- ],
- "publisher": "Science translational medicine",
- "issn": "1946-6242",
- "date": "2026-03-18",
- "abstract": "Lowering",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41849583"
-},
-{
- "id": "pmid:41841355",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41841355",
- "title": "Discovery and Optimization of Thienopyrazine RNA-Splicing Modulators for the Treatment of Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.1021/acs.jmedchem.6c00224",
- "authors": [
- ["Chaofan", "Xu"],
- ["Neeta", "Abraham"],
- ["Nupur", "Bansal"],
- ["Philippe N", "Bolduc"],
- ["Patrick", "Cullen"],
- ["Thomas M", "Carlile"],
- ["Yirui", "Chen"],
- ["Colin K", "Choi"],
- ["Rachelle", "Driscoll"],
- ["Eric", "Stefan"],
- ["Christina M", "Gallo"],
- ["Zhen", "Gao"],
- ["Catherine L", "Guardado"],
- ["Guilherme", "Guimaraes"],
- ["James", "Harvey"],
- ["Sarah", "Huff"],
- ["Dann", "Huh"],
- ["Jessica", "Hurt"],
- ["Melissa M", "Kemp"],
- ["Kwang Soo", "Lee"],
- ["Joon", "Lee"],
- ["Mukesh", "Lulla"],
- ["Soumya", "Negi"],
- ["Marta", "Nevalainen"],
- ["Emily A", "Peterson"],
- ["Thomas J", "Purgett"],
- ["Joseph C", "Santoro"],
- ["Daniel R", "Smith"],
- ["Andreas", "Weihofen"],
- ["Zain", "Yousaf"],
- ["Magnus", "Pfaffenbach"]
- ],
- "publisher": "Journal of medicinal chemistry",
- "issn": "1520-4804",
- "date": "2026-03-17",
- "abstract": "Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG-repeat expansion in the Huntington gene (HTT). Herein, we describe the discovery of a series of HTT pre-mRNA-splicing modulators that promote the inclusion of a cryptic stop codon that in turn lowers levels of mutant Huntington protein (mHTT). Optimization of the starting thienopyridine amide core resulted in the discovery of the potent, CNS-penetrant, selective, and orally bioavailable HTT-splicing modulator BIO-6553. This lead compound is structurally distinct from existing splicing modulators, demonstrated significant HTT-lowering in both human cells and mouse YAC128 models, and has an attractive off-target profile from RASL- and RNA-seq analysis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41841355"
-},
-{
- "id": "pmid:41838909",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41838909",
- "title": "High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.",
- "type": "article-journal",
- "doi": "10.1073/pnas.2520462123",
- "authors": [
- ["Rebeka", "Fanti"],
- ["Esther", "Wolf"],
- ["Tatsuya", "Ikenoue"],
- ["Justin C", "Deme"],
- ["Swati", "Balakrishnan"],
- ["Brandon A", "Keith"],
- ["Matthew G", "Alteen"],
- ["Renu", "Chandrasekaran"],
- ["Manisha", "Yadav"],
- ["Ritika", "Bhajiawala"],
- ["Suzanne", "Ackloo"],
- ["Jia", "Feng"],
- ["Mahmoud A", "Pouladi"],
- ["Aled M", "Edwards"],
- ["Derek J", "Wilson"],
- ["Susan M", "Lea"],
- ["Hiroaki", "Suga"],
- ["Rachel J", "Harding"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "1091-6490",
- "date": "2026-03-16",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a Cytosine-Adenosine-Guanine (CAG) repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41838909"
-},
-{
- "id": "pmid:41828602",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41828602",
- "title": "A Two-Track Model of Huntington's Disease Pathology: Striatal Atrophy Mediates Maladaptive Immune Dysregulation.",
- "type": "article-journal",
- "doi": "10.3390/ijms27052384",
- "authors": [
- ["H Jeremy", "Bockholt"],
- ["Jordan D", "Clemsen"],
- ["Bradley T", "Baker"],
- ["Vince D", "Calhoun"],
- ["Jane S", "Paulsen"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2026-03-04",
- "abstract": "Huntington's disease (HD) is characterized by progressive striatal atrophy and complex proteomic changes in the central nervous system. Using the ultrasensitive Next-Gen Ultra-Sensitive Immunoassay (NULISA) proteomic platform, we analyzed cerebrospinal fluid (CSF) from 88 persons with HD to dissect the biological correlates of gray matter loss. Our findings reveal a distinct \"Two-Track\" model of pathology. The first track, marked by the axonal damage protein neurofilament light chain (NEFL), showed a strong inverse correlation with putamen volume (Pearson",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41828602"
-},
-{
- "id": "pmid:41786746",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41786746",
- "title": "USP7 deubiquitinase stabilizes FAN1 to support DNA crosslink repair and suppress CAG repeat expansion.",
- "type": "article-journal",
- "doi": "10.1038/s41467-026-70051-9",
- "authors": [
- ["Giulio", "Collotta"],
- ["Marco", "Gatti"],
- ["Irina-Maria", "Ungureanu"],
- ["Vanessa", "van Ackeren"],
- ["Emilie", "Rannou"],
- ["Francesca", "Vivalda"],
- ["Diego", "Gomez Vieito"],
- ["Keri M", "Fishwick"],
- ["Christine", "von Aesch"],
- ["Antonio", "Porro"],
- ["Kyra", "Ungerleider"],
- ["Ailin", "Heidari"],
- ["Rapha\u00ebl", "Gu\u00e9rois"],
- ["Rachel J", "Harding"],
- ["Sylvain", "Bischof"],
- ["Gabriel", "Balmus"],
- ["Alessandro A", "Sartori"]
- ],
- "publisher": "Nature communications",
- "issn": "2041-1723",
- "date": "2026-03-06",
- "abstract": "Human FAN1 is a structure-specific endonuclease implicated in the repair of DNA interstrand crosslinks (ICLs) and the excision of extrahelical CAG repeats-whose pathological expansion underlies Huntington's disease (HD), a progressive and currently incurable neurodegenerative disorder. However, mechanisms of post-translational regulation of FAN1 are still largely unknown. Here, we identify the ubiquitin-specific protease 7 (USP7) as an interactor of FAN1. USP7 stabilizes FAN1 protein levels in a deubiquitination-dependent manner, preventing FAN1 from proteasomal degradation. Consequently, we demonstrate that USP7 depletion leads to reduced chromatin association of FAN1 and increased cellular hypersensitivity following ICL damage. Moreover, loss of USP7 accelerates CAG repeat expansion in an RPE-1 cell model stably expressing mutant huntingtin (mHTT) exon 1 containing 129 CAG repeats (RPE-1",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41786746"
-},
-{
- "id": "pmid:41741274",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41741274",
- "title": "Silmitasertib, an FDA-designated orphan CK2 inhibitor, ameliorates neuropathology and motor dysfunction in a Huntington's disease mouse model.",
- "type": "article-journal",
- "doi": "10.1016/j.neurot.2026.e00859",
- "authors": [
- ["Ross J", "Pelzel"],
- ["Miaya", "Herbst"],
- ["Nicholas B", "Rozema"],
- ["Melissa A", "Solem"],
- ["Rocio", "Gomez-Pastor"]
- ],
- "publisher": "Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics",
- "issn": "1878-7479",
- "date": "2026-02-24",
- "abstract": "Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease that manifests with progressive motor, cognitive, and psychological impairments. HD is caused by a CAG (glutamine) repeat expansion in the huntingtin (HTT) gene, leading to the misfolding and aggregation of mutant HTT protein (mHTT) and the preferential degeneration of the striatum. Previously in our lab, we identified Protein Kinase CK2 as an important kinase involved in the pathophysiology of HD. Specifically, the levels of the alpha prime catalytic subunit of CK2 (CK2\u03b1') are increased in HD, and genetic depletion of CK2\u03b1' in HD mice results in improved motor behavior, decreased mutant Htt aggregation, and improved neuronal function. Silmitasertib (CX-4945) is an FDA designated orphan drug that inhibits CK2. This study aims to investigate whether CX-4945 treatment ameliorates HD pathology. We treated prodromal and late symptomatic HD mice, and used a variety of immunohistochemical, biochemical, physiological and behavioral approaches. We found that CX-4945 presented benefits in the amelioration of HD pathophysiology in both treated groups. Importantly, we found CX-4945 decreased mHtt aggregation, increased DARPP-32 protein levels and excitatory synapse density, restored homeostatic astrocyte phenotypes and ameliorated neuroinflammation and microgliosis, altogether resulting in improved motor behavior. These results support CX-4945 as a strong candidate for a targeted therapy to treat HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41741274"
-},
-{
- "id": "pmid:41736445",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/41736445",
- "title": "The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1111/bpa.70088",
- "authors": [
- ["Sanaz", "Gabery"],
- ["Sofia", "Bergh"],
- ["Chrisovalantou", "Huridou"],
- ["Rachel Y", "Cheong"],
- ["Barbara", "Baldo"],
- ["Paul G\u00fcnther", "Scheunemann"],
- ["Marie-Louisa", "Schoebel"],
- ["Linda Holmquist", "Mengelbier"],
- ["Elisabet", "Englund"],
- ["Catriona", "McLean"],
- ["Carsten", "Saft"],
- ["Deniz", "Kirik"],
- ["Maria", "Bj\u00f6rkqvist"],
- ["Glenda", "Halliday"],
- ["Elisabeth", "Petrasch-Parwez"],
- ["Huu Phuc", "Nguyen"],
- ["Jonasz Jeremiasz", "Weber"],
- ["\u00c5sa", "Peters\u00e9n"]
- ],
- "publisher": "Brain pathology (Zurich, Switzerland)",
- "issn": "1750-3639",
- "date": "2026-02-24",
- "abstract": "The pathogenic mechanisms leading to neurodegeneration in Huntington disease (HD) are not fully understood but involve accumulation of toxic mRNA and protein products in the brain. Recent studies described an unconventional autophagic pathway involving DNA and RNA degradation through DNautophagy and RNautophagy that is regulated by the lysosomal protein SID1 transmembrane family member 2 (SIDT2). Interestingly, SIDT2 has been shown to bind to the expanded CAG repeat in the mutant huntingtin (mHTT) transcript and lower mHTT in vitro. The aim of the present study was to determine whether SIDT2 levels are altered in HD and whether manipulation of SIDT2-mediated RNautophagy can alter HD pathology. We demonstrate a significant reduction of SIDT2 protein levels in the striatum and in the lateral hypothalamic area in postmortem HD brains compared to control cases without effects on SIDT2 mRNA levels. In frontal cortical postmortem HD tissue, we show a CAG-repeat-length-dependent increase in the frequency of SIDT2-immunoreactive intranuclear inclusions. In postmortem tissue of an HD case with Vonsattel grade 0, we demonstrate SIDT2- and mHTT-immunoreactive inclusions not only in the frontal cortex, but also in the striatum and the lateral hypothalamic area. In the R6/2 mouse model of HD, we show that SIDT2 inclusions form at later stages than mHTT inclusions. Overexpression of SIDT2 using adeno-associated viral vectors injected into the hypothalamus of R6/2 mice led to a reduction of mHTT inclusions in the lateral hypothalamic area. Similarly, in a neuronal cell model, overexpression of SIDT2 reduced soluble and insoluble mHTT exon 1 protein levels. Taken together, our results reveal novel pathology in clinical HD cases and in experimental models, characterized by the accumulation of SIDT2-immunoreactive inclusions, while demonstrating the efficacy of overexpressing SIDT2 for lowering detrimental mHTT species. Targeting SIDT2-mediated RNautophagy may offer a potential strategy to ameliorate the molecular pathology in HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41736445"
-},
-{
- "id": "pmid:37177784",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37177784",
- "title": "Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.ymthe.2023.05.006",
- "authors": [
- ["Daniel", "O'Reilly"],
- ["Jillian", "Belgrad"],
- ["Chantal", "Ferguson"],
- ["Ashley", "Summers"],
- ["Ellen", "Sapp"],
- ["Cassandra", "McHugh"],
- ["Ella", "Mathews"],
- ["Adel", "Boudi"],
- ["Julianna", "Buchwald"],
- ["Socheata", "Ly"],
- ["Dimas", "Moreno"],
- ["Raymond", "Furgal"],
- ["Eric", "Luu"],
- ["Zachary", "Kennedy"],
- ["Vignesh", "Hariharan"],
- ["Kathryn", "Monopoli"],
- ["X William", "Yang"],
- ["Jeffery", "Carroll"],
- ["Marian", "DiFiglia"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"]
- ],
- "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
- "issn": "1525-0024",
- "date": "2023-05-12",
- "abstract": "Huntington's disease (HD) is a severe neurodegenerative disorder caused by the expansion of the CAG trinucleotide repeat tract in the huntingtin gene. Inheritance of expanded CAG repeats is needed for HD manifestation, but further somatic expansion of the repeat tract in non-dividing cells, particularly striatal neurons, hastens disease onset. Called somatic repeat expansion, this process is mediated by the mismatch repair (MMR) pathway. Among MMR components identified as modifiers of HD onset, MutS homolog 3 (MSH3) has emerged as a potentially safe and effective target for therapeutic intervention. Here, we identify a fully chemically modified short interfering RNA (siRNA) that robustly silences Msh3 in\u00a0vitro and in\u00a0vivo. When synthesized in a di-valent scaffold, siRNA-mediated silencing of Msh3 effectively blocked CAG-repeat expansion in the striatum of two HD mouse models without affecting tumor-associated microsatellite instability or mRNA expression of other MMR genes. Our findings establish a promising treatment approach for patients with HD and other repeat expansion diseases.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37177784"
-},
-{
- "id": "pmid:36958627",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36958627",
- "title": "Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.",
- "type": "article-journal",
- "doi": "10.1016/j.mcpro.2023.100534",
- "authors": [
- ["Kizito-Tshitoko", "Tshilenge"],
- ["Carlos Galicia", "Aguirre"],
- ["Joanna", "Bons"],
- ["Akos A", "Gerencser"],
- ["Nathan", "Basisty"],
- ["Sicheng", "Song"],
- ["Jacob", "Rose"],
- ["Alejandro", "Lopez-Ramirez"],
- ["Swati", "Naphade"],
- ["Ashley", "Loureiro"],
- ["Elena", "Battistoni"],
- ["Mateus", "Milani"],
- ["Cameron", "Wehrfritz"],
- ["Anja", "Holtz"],
- ["Claudio", "Hetz"],
- ["Sean D", "Mooney"],
- ["Birgit", "Schilling"],
- ["Lisa M", "Ellerby"]
- ],
- "publisher": "Molecular & cellular proteomics : MCP",
- "issn": "1535-9484",
- "date": "2023-03-22",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion in the Huntingtin (HTT) gene. The resulting polyglutamine (polyQ) tract alters the function of the HTT protein. Although HTT is expressed in different tissues, the medium-spiny projection neurons (MSNs) in the striatum are particularly vulnerable in HD. Thus, we sought to define the proteome of human HD patient-derived MSNs. We differentiated HD72-induced pluripotent stem cells and isogenic controls into MSNs and carried out quantitative proteomic analysis. Using data-dependent acquisitions with FAIMS for label-free quantification on the Orbitrap Lumos mass spectrometer, we identified 6323 proteins with at least two unique peptides. Of these, 901 proteins were altered significantly more in the HD72-MSNs than in isogenic controls. Functional enrichment analysis of upregulated proteins demonstrated extracellular matrix and DNA signaling (DNA replication pathway, double-strand break repair, G1/S transition) with the highest significance. Conversely, processes associated with the downregulated proteins included neurogenesis-axogenesis, the brain-derived neurotrophic factor-signaling pathway, Ephrin-A:EphA pathway, regulation of synaptic plasticity, triglyceride homeostasis cholesterol, plasmid lipoprotein particle immune response, interferon-\u03b3 signaling, immune system major histocompatibility complex, lipid metabolism, and cellular response to stimulus. Moreover, proteins involved in the formation and maintenance of axons, dendrites, and synapses (e.g., septin protein members) were dysregulated in HD72-MSNs. Importantly, lipid metabolism pathways were altered, and using quantitative image analysis, we found that lipid droplets accumulated in the HD72-MSN, suggesting a deficit in the turnover of lipids possibly through lipophagy. Our proteomics analysis of HD72-MSNs identified relevant pathways that are altered in MSNs and confirm current and new therapeutic targets for HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36958627"
-},
-{
- "id": "pmid:36711022",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36711022",
- "title": "Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage.",
- "type": "article-journal",
- "doi": "10.3389/fphys.2023.1086112",
- "authors": [
- ["Fanny L", "Lemari\u00e9"],
- ["Shaun S", "Sanders"],
- ["Yen", "Nguyen"],
- ["Dale D O", "Martin"],
- ["Michael R", "Hayden"]
- ],
- "publisher": "Frontiers in physiology",
- "issn": "1664-042X",
- "date": "2023-01-13",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36711022"
-},
-{
- "id": "pmid:36550260",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36550260",
- "title": "CRISPR-Cas9 mediated genome editing of Huntington's disease neurospheres.",
- "type": "article-journal",
- "doi": "10.1007/s11033-022-08175-6",
- "authors": [
- ["Ji Yun", "Han"],
- ["Jaewoo", "Seo"],
- ["Yoori", "Choi"],
- ["Wooseok", "Im"],
- ["Jae-Jun", "Ban"],
- ["Jung-Joon", "Sung"]
- ],
- "publisher": "Molecular biology reports",
- "issn": "1573-4978",
- "date": "2022-12-23",
- "abstract": "Huntington's disease (HD) is a fatal genetic disease caused by polyglutamine aggregation encoded by an expanded CAG repeat in the huntingtin gene (HTT). In this study, we cultured neurospheres derived from R6/2 mice, a representative animal model of HD, as an in vitro model. GuideRNAs were designed to induce large deletion or frameshift indel mutation of CAG expansion. These gRNAs and Cas9 were delivered to the R6/2 neurospheres and disease-related phenotypes were observed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36550260"
-},
-{
- "id": "pmid:36458209",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36458209",
- "title": "Mutant huntingtin messenger RNA forms neuronal nuclear clusters in rodent and human brains.",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcac248",
- "authors": [
- ["Socheata", "Ly"],
- ["Marie-C\u00e9cile", "Didiot"],
- ["Chantal M", "Ferguson"],
- ["Andrew H", "Coles"],
- ["Rachael", "Miller"],
- ["Kathryn", "Chase"],
- ["Dimas", "Echeverria"],
- ["Feng", "Wang"],
- ["Ghazaleh", "Sadri-Vakili"],
- ["Neil", "Aronin"],
- ["Anastasia", "Khvorova"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2022-10-13",
- "abstract": "Mutant messenger RNA (mRNA) and protein contribute to the clinical manifestation of many repeat-associated neurological disorders, with the presence of nuclear RNA clusters being a common pathological feature. Yet, investigations into Huntington's disease-caused by a CAG repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36458209"
-},
-{
- "id": "pmid:36427954",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36427954",
- "title": "The microbiota-gut-brain axis in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/bs.irn.2022.06.005",
- "authors": [
- ["Chloe J", "Love"],
- ["Bethany A", "Masson"],
- ["Carolina", "Gubert"],
- ["Anthony J", "Hannan"]
- ],
- "publisher": "International review of neurobiology",
- "issn": "2162-5514",
- "date": "2022-10-28",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36427954"
-},
-{
- "id": "pmid:36352624",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36352624",
- "title": "Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.",
- "type": "article-journal",
- "doi": "10.4103/0028-3886.359184",
- "authors": [
- ["Nikhil", "Ratna"],
- ["Swathi Lakshmi", "Pasupulati"],
- ["Ravi K", "Nadella"],
- ["Meera", "Purushottam"],
- ["Sanjeev", "Jain"]
- ],
- "publisher": "Neurology India",
- "issn": "1998-4022",
- "date": "2022-01-01",
- "abstract": "Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36352624"
-},
-{
- "id": "pmid:36335527",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335527",
- "title": "More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.",
- "type": "article-journal",
- "doi": "10.1007/s00401-022-02517-1",
- "authors": [
- ["Hannah S", "Bakels"],
- ["Stephanie", "Feleus"],
- ["Vera", "van Dis"],
- ["Susanne T", "de Bot"]
- ],
- "publisher": "Acta neuropathologica",
- "issn": "1432-0533",
- "date": "2022-11-06",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335527"
-},
-{
- "id": "pmid:36335491",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36335491",
- "title": "Full-Length Transcript Phasing with Third-Generation Sequencing.",
- "type": "article-journal",
- "doi": "10.1007/978-1-0716-2819-5_3",
- "authors": [
- ["Nenad", "Svrzikapa"],
- ["Ramakrishna", "Boyanapalli"]
- ],
- "publisher": "Methods in molecular biology (Clifton, N.J.)",
- "issn": "1940-6029",
- "date": "2023-01-01",
- "abstract": "Haplotyping individual full-length transcripts can be important in diagnosis and treatment of certain genetic diseases. One set of diseases, repeat expansions of simple tandem repeat sequences are the cause of over 40 neurological disorders. In many of these conditions, expanding a polymorphic repeat beyond a given threshold has been strongly associated with disease onset and severity. Given that most repeat expansions are inherited in an autosomal dominant pattern, repeat expansion disorders are typically characterized by a heterozygous expansion locus associated with a single haplotype. Precision genetic medicines can be used to selectively target expansion-containing sequences in a haplotype-specific manner.However, repeat expansion lengths often exceed the capacity of next-generation sequencing (NGS) reads. Therefore, the accurate length and haplotype determination of repeat expansions requires special considerations and requires the development of custom methods. Here we highlight a method for targeted haplotype phasing of the HTT gene, which can be adopted for use with other full-length transcripts and in other repeat expansion disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36335491"
-},
-{
- "id": "pmid:36285345",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36285345",
- "title": "Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.",
- "type": "article-journal",
- "doi": "10.1002/acn3.51673",
- "authors": [
- ["Arianna", "Manini"],
- ["Delia", "Gagliardi"],
- ["Megi", "Meneri"],
- ["Sara", "Antognozzi"],
- ["Roberto", "Del Bo"],
- ["Cesa", "Scaglione"],
- ["Giacomo Pietro", "Comi"],
- ["Stefania", "Corti"],
- ["Dario", "Ronchi"]
- ],
- "publisher": "Annals of clinical and translational neurology",
- "issn": "2328-9503",
- "date": "2022-10-25",
- "abstract": "HTT full-penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian cohort of ALS patients (n\u2009=\u2009467) by repeat-primed polymerase chain reaction. One patient harbored two expanded alleles in the HTT gene (42 and 37 CAG repeats). The absence of HD typical symptoms and the clinical picture consistent with ALS, corroborated by the diagnostic assessment, apparently excluded a misdiagnosis of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36285345"
-},
-{
- "id": "pmid:36130218",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36130218",
- "title": "Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddac224",
- "authors": [
- ["Ainara", "Ruiz de Sabando"],
- ["Edurne", "Urrutia Lafuente"],
- ["Arkaitz", "Galbete"],
- ["Marc", "Ciosi"],
- ["Ferm\u00edn", "Garc\u00eda Amigot"],
- ["Virginia", "Garc\u00eda Solaesa"],
- ["Darren G", "Monckton"],
- ["Maria A", "Ramos-Arroyo"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2023-03-06",
- "abstract": "We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of population-based controls (n\u2009=\u2009520) and families with symptomatic individuals referred for HD genetic testing. This group included 331 HD cases and 140 carriers of intermediate alleles. Clinical and family history data were obtained when available. Spanish normal alleles are enriched in C haplotypes (40.1%), whereas A1 (39.8%) and A2 (31.6%) prevail among intermediate and expanded alleles, respectively. Alleles\u2009\u2265\u200950 CAG repeats are primarily associated with haplotypes A2 (38.9%) and C (32%), which are also present in 50% and 21.4%, respectively, of HD families with large intergenerational expansions. Non-canonical variants of exon one sequence are less frequent, but much more diverse, in alleles of \u226527 CAG repeats. The deletion of CAACAG, one of the six rare variants not observed among smaller normal alleles, is associated with haplotype C and appears to correlate with larger intergenerational expansions and early onset of symptoms. Spanish HD haplotypes are characterized by a high genetic diversity, potentially admixed with other non-Caucasian populations, with a higher representation of A2 and C haplotypes than most European populations. Differences in haplotype distributions across the CAG length range support differential germline expansion dynamics, with A2 and C showing the largest intergenerational expansions. This haplotype-dependent germline instability may be driven by specific cis-elements, such as the CAACAG deletion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36130218"
-},
-{
- "id": "pmid:36098485",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36098485",
- "title": "Developing HDAC4-Selective Protein Degraders To Investigate the Role of HDAC4 in Huntington's Disease Pathology.",
- "type": "article-journal",
- "doi": "10.1021/acs.jmedchem.2c01149",
- "authors": [
- ["Natsuko", "Macabuag"],
- ["William", "Esmieu"],
- ["Perla", "Breccia"],
- ["Rebecca", "Jarvis"],
- ["Wesley", "Blackaby"],
- ["Ovadia", "Lazari"],
- ["Liudvikas", "Urbonas"],
- ["Maria", "Eznarriaga"],
- ["Rachel", "Williams"],
- ["Annelieke", "Strijbosch"],
- ["Rhea", "Van de Bospoort"],
- ["Kim", "Matthews"],
- ["Cole", "Clissold"],
- ["Tammy", "Ladduwahetty"],
- ["Huw", "Vater"],
- ["Patrick", "Heaphy"],
- ["Douglas G", "Stafford"],
- ["Hong-Jun", "Wang"],
- ["John E", "Mangette"],
- ["George", "McAllister"],
- ["Vahri", "Beaumont"],
- ["Thomas F", "Vogt"],
- ["Hilary A", "Wilkinson"],
- ["Elizabeth M", "Doherty"],
- ["Celia", "Dominguez"]
- ],
- "publisher": "Journal of medicinal chemistry",
- "issn": "1520-4804",
- "date": "2022-09-13",
- "abstract": "Huntington's disease (HD) is a lethal autosomal dominant neurodegenerative disorder resulting from a CAG repeat expansion in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36098485"
-},
-{
- "id": "pmid:36066723",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/36066723",
- "title": "Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1007/s10815-022-02594-x",
- "authors": [
- ["In K", "Cho"],
- ["Charles A", "Easley"],
- ["Anthony W S", "Chan"]
- ],
- "publisher": "Journal of assisted reproduction and genetics",
- "issn": "1573-7330",
- "date": "2022-09-06",
- "abstract": "Trinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington's disease (HD). A larger TNR instability is predominantly observed in the paternal germ cells in some TNR disorders. Suppressing the expansion during spermatogenesis can provide a unique opportunity to end the vicious cycle of genetic anticipation. Here, using an in vitro differentiation method to derive advanced spermatogenic cells, we investigated the efficacy of two therapeutic agents, araC (cytarabine) and aspirin, on stabilizing TNRs in spermatogenic cells. Two WT patient-derived induced pluripotent stem cell (iPSC) lines and two HD hiPSC lines, with 44 Q and 180 Q, were differentiated into spermatogonial stem cell-like cells (SSCLCs). Both HD cell lines showed CAG tract expansion in SSCLC. When treated with araC and aspirin, HD1 showed moderate but not statistically significant stabilization of TNR. In HD2, 10\u00a0nM of aspirin and araC showed significant stabilization of TNR. All cell lines showed increased DNA damage response (DDR) gene expression in SSCLCs while more genes were significantly induced in HD SSCLC. In HD1, araC and aspirin treatment showed general suppression of DNA damage response genes. In HD2, only FAN1, OGG1, and PCNA showed significant suppression. When the methylation profile of HD cells was analyzed, FAN1 and OGG1 showed significant hypermethylation after the aspirin and araC treatment in SSCLC compared to the control. This study underscores the utility of our in vitro spermatogenesis model to study and develop therapies for TNR disorders such as HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36066723"
-},
-{
- "id": "pmid:35440014",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35440014",
- "title": "The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade.",
- "type": "article-journal",
- "doi": "10.1186/s40478-022-01364-1",
- "authors": [
- ["Richard A", "Hickman"],
- ["Phyllis L", "Faust"],
- ["Karen", "Marder"],
- ["Ai", "Yamamoto"],
- ["Jean-Paul", "Vonsattel"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2022-04-19",
- "abstract": "Huntington disease is characterized by progressive neurodegeneration, especially of the striatum, and the presence of polyglutamine huntingtin (HTT) inclusions. Although HTT inclusions are most abundant in the neocortex, their neocortical distribution and density in relation to the extent of CAG repeat expansion in the HTT gene and striatal pathologic grade have yet to be formally established. We immunohistochemically studied 65 brains with a pathologic diagnosis of Huntington disease to investigate the cortical distributions and densities of HTT inclusions within the calcarine (BA17), precuneus (BA7), motor (BA4) and prefrontal (BA9) cortices; in 39 of these brains, a p62 immunostain was used for comparison. HTT inclusions predominate in the infragranular cortical layers (layers V-VI) and layer III, however, the densities of HTT inclusions across the human cerebral cortex are not uniform but are instead regionally contingent. The density of HTT and p62 inclusions (intranuclear and extranuclear) in layers V-VI increases caudally to rostrally (BA17\u2009<\u2009BA7\u2009<\u2009BA4\u2009<\u2009BA9) with the median burden of HTT inclusions being 38-fold greater in the prefrontal cortex (BA9) than in the calcarine cortex (BA17). Conversely, intranuclear HTT inclusions prevail in the calcarine cortex irrespective of HTT CAG length. Neocortical HTT inclusion density correlates with CAG repeat expansion, but not with the neuropathologic grade of striatal degeneration (Vonsattel grade) or with the duration of clinical disease since motor onset. Extrapolation of these findings suggest that HTT inclusions are at a regionally-contingent, CAG-dependent, density during the advanced stages of HD. The distribution and density of HTT inclusions in HD therefore does not provide a measure of pathologic disease stage but rather infers the degree of pathogenic HTT expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35440014"
-},
-{
- "id": "pmid:35395816",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35395816",
- "title": "Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.",
- "type": "article-journal",
- "doi": "10.1186/s40478-022-01349-0",
- "authors": [
- ["Lindsey N", "Campion"],
- ["Alan", "Mejia Maza"],
- ["Rachita", "Yadav"],
- ["Ellen B", "Penney"],
- ["Micaela G", "Murcar"],
- ["Kevin", "Correia"],
- ["Tammy", "Gillis"],
- ["Cara", "Fernandez-Cerado"],
- ["M Salvie", "Velasco-Andrada"],
- ["G Paul", "Legarda"],
- ["Niecy G", "Ganza-Bautista"],
- ["J Benedict B", "Lagarde"],
- ["Patrick J", "Acu\u00f1a"],
- ["Trisha", "Multhaupt-Buell"],
- ["Gabrielle", "Aldykiewicz"],
- ["Melanie L", "Supnet"],
- ["Jan K", "De Guzman"],
- ["Criscely", "Go"],
- ["Nutan", "Sharma"],
- ["Edwin L", "Munoz"],
- ["Mark C", "Ang"],
- ["Cid Czarina E", "Diesta"],
- ["D Cristopher", "Bragg"],
- ["Laurie J", "Ozelius"],
- ["Vanessa C", "Wheeler"]
- ],
- "publisher": "Acta neuropathologica communications",
- "issn": "2051-5960",
- "date": "2022-04-08",
- "abstract": "X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. This places XDP in a broader class of repeat expansion diseases, characterized by the instability of their causative repeat mutations. Here, we observe similar inverse correlations between CCCTCT repeat length with age at onset and age at death and no obvious correlation with disease duration. To gain insight into repeat instability in XDP we performed comprehensive quantitative analyses of somatic instability of the XDP CCCTCT repeat in blood and in seventeen brain regions from affected males. Our findings reveal repeat length-dependent and expansion-based instability of the XDP CCCTCT repeat, with greater levels of expansion in brain than in blood. The brain exhibits regional-specific patterns of instability that are broadly similar across individuals, with cerebellum exhibiting low instability and cortical regions exhibiting relatively high instability. The spectrum of somatic instability in the brain includes a high proportion of moderate repeat length changes of up to 5 repeats, as well as expansions of\u2009~\u200920-\u2009>\u2009100 repeats and contractions of\u2009~\u200920-40 repeats at lower frequencies. Comparison with HTT CAG repeat instability in postmortem Huntington's disease brains reveals similar brain region-specific profiles, indicating common trans-acting factors that contribute to the instability of both repeats. Analyses in XDP brains of expansion of a different SVA-associated CCCTCT located in the LIPG gene, and not known to be disease-associated, reveals repeat length-dependent expansion at overall lower levels relative to the XDP CCCTCT repeat, suggesting that expansion propensity may be modified by local chromatin structure. Together, the data support a role for repeat length-dependent somatic expansion in the process(es) driving the onset of XDP and prompt further investigation into repeat dynamics and the relationship to disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35395816"
-},
-{
- "id": "pmid:35379994",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35379994",
- "title": "Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.",
- "type": "article-journal",
- "doi": "10.1038/s41593-022-01033-5",
- "authors": [
- ["Branduff", "McAllister"],
- ["Jasmine", "Donaldson"],
- ["Caroline S", "Binda"],
- ["Sophie", "Powell"],
- ["Uroosa", "Chughtai"],
- ["Gareth", "Edwards"],
- ["Joseph", "Stone"],
- ["Sergey", "Lobanov"],
- ["Linda", "Elliston"],
- ["Laura-Nadine", "Schuhmacher"],
- ["Elliott", "Rees"],
- ["Georgina", "Menzies"],
- ["Marc", "Ciosi"],
- ["Alastair", "Maxwell"],
- ["Michael J", "Chao"],
- ["Eun Pyo", "Hong"],
- ["Diane", "Lucente"],
- ["Vanessa", "Wheeler"],
- ["Jong-Min", "Lee"],
- ["Marcy E", "MacDonald"],
- ["Jeffrey D", "Long"],
- ["Elizabeth H", "Aylward"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Anne E", "Rosser"],
- ["Jane S", "Paulsen"],
- ["Nigel M", "Williams"],
- ["James F", "Gusella"],
- ["Darren G", "Monckton"],
- ["Nicholas D", "Allen"],
- ["Peter", "Holmans"],
- ["Lesley", "Jones"],
- ["Thomas H", "Massey"]
- ],
- "publisher": "Nature neuroscience",
- "issn": "1546-1726",
- "date": "2022-04-04",
- "abstract": "The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We discovered damaging coding variants in candidate modifier genes identified in previous genome-wide association studies associated with altered HD onset or severity. Variants in FAN1 clustered in its DNA-binding and nuclease domains and were associated predominantly with earlier-onset HD. Nuclease activities of purified variants in vitro correlated with residual age at motor onset of HD. Mutating endogenous FAN1 to a nuclease-inactive form in an induced pluripotent stem cell model of HD led to rates of CAG expansion similar to those observed with complete FAN1 knockout. Together, these data implicate FAN1 nuclease activity in slowing somatic repeat expansion and hence onset of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35379994"
-},
-{
- "id": "pmid:35357736",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35357736",
- "title": "Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort.",
- "type": "article-journal",
- "doi": "10.1111/ene.15340",
- "authors": [
- ["Martina", "Petracca"],
- ["Sonia", "Di Tella"],
- ["Marcella", "Solito"],
- ["Paola", "Zinzi"],
- ["Maria Rita", "Lo Monaco"],
- ["Giulia", "Di Lazzaro"],
- ["Paolo", "Calabresi"],
- ["Maria Caterina", "Silveri"],
- ["Anna Rita", "Bentivoglio"]
- ],
- "publisher": "European journal of neurology",
- "issn": "1468-1331",
- "date": "2022-04-17",
- "abstract": "Huntington's disease (HD) is an autosomal dominant condition caused by CAG-triplet repeat expansions. CAG-triplet repeat expansion is inversely correlated with age of onset in HD and largely determines the clinical features. The aim of this study was to examine the phenotypic and genotypic correlates of late-onset HD (LoHD) and to determine whether LoHD is a more benign expression of HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35357736"
-},
-{
- "id": "pmid:35146388",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35146388",
- "title": "IKK\u03b2 signaling mediates metabolic changes in the hypothalamus of a Huntington disease mouse model.",
- "type": "article-journal",
- "doi": "10.1016/j.isci.2022.103771",
- "authors": [
- ["Rana", "Soylu-Kucharz"],
- ["Ali", "Khoshnan"],
- ["\u00c5sa", "Peters\u00e9n"]
- ],
- "publisher": "iScience",
- "issn": "2589-0042",
- "date": "2022-01-19",
- "abstract": "Huntington disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35146388"
-},
-{
- "id": "pmid:35114102",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35114102",
- "title": "Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice.",
- "type": "article-journal",
- "doi": "10.1016/j.neuron.2022.01.006",
- "authors": [
- ["Xiaofeng", "Gu"],
- ["Jeffrey", "Richman"],
- ["Peter", "Langfelder"],
- ["Nan", "Wang"],
- ["Shasha", "Zhang"],
- ["Monica", "Ba\u00f1ez-Coronel"],
- ["Huei-Bin", "Wang"],
- ["Lucia", "Yang"],
- ["Lalini", "Ramanathan"],
- ["Linna", "Deng"],
- ["Chang Sin", "Park"],
- ["Christopher R", "Choi"],
- ["Jeffrey P", "Cantle"],
- ["Fuying", "Gao"],
- ["Michelle", "Gray"],
- ["Giovanni", "Coppola"],
- ["Gillian P", "Bates"],
- ["Laura P W", "Ranum"],
- ["Steve", "Horvath"],
- ["Christopher S", "Colwell"],
- ["X William", "Yang"]
- ],
- "publisher": "Neuron",
- "issn": "1097-4199",
- "date": "2022-02-02",
- "abstract": "In Huntington's disease (HD), the uninterrupted CAG repeat length, but not the polyglutamine length, predicts disease onset. However, the underlying pathobiology remains unclear. Here, we developed bacterial artificial chromosome (BAC) transgenic mice expressing human mutant huntingtin (mHTT) with uninterrupted, and somatically unstable, CAG repeats that exhibit progressive disease-related phenotypes. Unlike prior mHTT transgenic models with stable, CAA-interrupted, polyglutamine-encoding repeats, BAC-CAG mice show robust striatum-selective nuclear inclusions and transcriptional dysregulation resembling those in murine huntingtin knockin models and HD patients. Importantly, the striatal transcriptionopathy in HD models is significantly correlated with their uninterrupted CAG repeat length but not polyglutamine length. Finally, among the pathogenic entities originating from mHTT genomic transgenes and only present or enriched in the uninterrupted CAG repeat model, somatic CAG repeat instability and nuclear mHTT aggregation are best correlated with early-onset striatum-selective molecular pathogenesis and locomotor and sleep deficits, while repeat RNA-associated pathologies and repeat-associated non-AUG (RAN) translation may play less selective or late pathogenic roles, respectively.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35114102"
-},
-{
- "id": "pmid:35095420",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35095420",
- "title": "Analysis of LINE1 Retrotransposons in Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.3389/fncel.2021.743797",
- "authors": [
- ["Lavinia", "Floreani"],
- ["Federico", "Ansaloni"],
- ["Damiano", "Mangoni"],
- ["Elena", "Agostoni"],
- ["Remo", "Sanges"],
- ["Francesca", "Persichetti"],
- ["Stefano", "Gustincich"]
- ],
- "publisher": "Frontiers in cellular neuroscience",
- "issn": "1662-5102",
- "date": "2022-01-14",
- "abstract": "Transposable elements (TEs) are mobile genetic elements that made up about half the human genome. Among them, the autonomous non-LTR retrotransposon long interspersed nuclear element-1 (L1) is the only currently active TE in mammals and covers about 17% of the mammalian genome. L1s exert their function as structural elements in the genome, as transcribed RNAs to influence chromatin structure and as retrotransposed elements to shape genomic variation in somatic cells. L1s activity has been shown altered in several diseases of the nervous system. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expansion of a CAG repeat in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35095420"
-},
-{
- "id": "pmid:35036881",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35036881",
- "title": "Transposable element activation promotes neurodegeneration in a",
- "type": "article-journal",
- "doi": "10.1016/j.isci.2021.103702",
- "authors": [
- ["Assunta Maria", "Casale"],
- ["Francesco", "Liguori"],
- ["Federico", "Ansaloni"],
- ["Ugo", "Cappucci"],
- ["Sara", "Finaurini"],
- ["Giovanni", "Spirito"],
- ["Francesca", "Persichetti"],
- ["Remo", "Sanges"],
- ["Stefano", "Gustincich"],
- ["Lucia", "Piacentini"]
- ],
- "publisher": "iScience",
- "issn": "2589-0042",
- "date": "2021-12-28",
- "abstract": "Huntington's disease (HD) is an autosomal dominant disorder with progressive motor dysfunction and cognitive decline. The disease is caused by a CAG repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35036881"
-},
-{
- "id": "pmid:34948242",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34948242",
- "title": "Identification of Novel Therapeutic Targets for Polyglutamine Diseases That Target Mitochondrial Fragmentation.",
- "type": "article-journal",
- "doi": "10.3390/ijms222413447",
- "authors": [
- ["Annika", "Traa"],
- ["Emily", "Machiela"],
- ["Paige D", "Rudich"],
- ["Sonja K", "Soo"],
- ["Megan M", "Senchuk"],
- ["Jeremy M", "Van Raamsdonk"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-12-14",
- "abstract": "Huntington's disease (HD) is one of at least nine polyglutamine diseases caused by a trinucleotide CAG repeat expansion, all of which lead to age-onset neurodegeneration. Mitochondrial dynamics and function are disrupted in HD and other polyglutamine diseases. While multiple studies have found beneficial effects from decreasing mitochondrial fragmentation in HD models by disrupting the mitochondrial fission protein DRP1, disrupting DRP1 can also have detrimental consequences in wild-type animals and HD models. In this work, we examine the effect of decreasing mitochondrial fragmentation in a neuronal",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34948242"
-},
-{
- "id": "pmid:34884469",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34884469",
- "title": "C57BL/6 Background Attenuates mHTT Toxicity in the Striatum of YAC128 Mice.",
- "type": "article-journal",
- "doi": "10.3390/ijms222312664",
- "authors": [
- ["Michaela K", "Back"],
- ["Johanna", "Kurzawa"],
- ["Sonia", "Ruggieri"],
- ["Jakob", "von Engelhardt"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-11-23",
- "abstract": "Mouse models are frequently used to study Huntington's disease (HD). The onset and severity of neuronal and behavioral pathologies vary greatly between HD mouse models, which results from different huntingtin expression levels and different CAG repeat length. HD pathology appears to depend also on the strain background of mouse models. Thus, behavioral deficits of HD mice are more severe in the FVB than in the C57BL/6 background. Alterations in medium spiny neuron (MSN) morphology and function have been well documented in young YAC128 mice in the FVB background. Here, we tested the relevance of strain background for mutant huntingtin (mHTT) toxicity on the cellular level by investigating HD pathologies in YAC128 mice in the C57BL/6 background (YAC128/BL6). Morphology, spine density, synapse function and membrane properties were not or only subtly altered in MSNs of 12-month-old YAC128/BL6 mice. Despite the mild cellular phenotype, YAC128/BL6 mice showed deficits in motor performance. More pronounced alterations in MSN function were found in the HdhQ150 mouse model in the C57BL/6 background (HdhQ150/BL6). Consistent with the differences in HD pathology, the number of inclusion bodies was considerably lower in YAC128/BL6 mice than HdhQ150/BL6 mice. This study highlights the relevance of strain background for mHTT toxicity in HD mouse models.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34884469"
-},
-{
- "id": "pmid:34851867",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34851867",
- "title": "Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers.",
- "type": "article-journal",
- "doi": "10.1097/wnn.0000000000000286",
- "authors": [
- ["Rebecca K", "Hendel"],
- ["Marie N N", "Hellem"],
- ["Lena E", "Hjermind"],
- ["J\u00f8rgen E", "Nielsen"],
- ["Asmus", "Vogel"]
- ],
- "publisher": "Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology",
- "issn": "1543-3641",
- "date": "2021-12-02",
- "abstract": "Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial caregiver distress. Research-based evidence of apathy is characterized by methodological differences, and there is a deficiency in the evidence concerning the subtypes of apathy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34851867"
-},
-{
- "id": "pmid:34829752",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34829752",
- "title": "Bone Marrow Microenvironment in Light-Chain Amyloidosis: In Vitro Expansion and Characterization of Mesenchymal Stromal Cells.",
- "type": "article-journal",
- "doi": "10.3390/biomedicines9111523",
- "authors": [
- ["Chiara", "Valsecchi"],
- ["Stefania", "Croce"],
- ["Alice", "Maltese"],
- ["Lorenza", "Montagna"],
- ["Elisa", "Lenta"],
- ["Alice", "Nevone"],
- ["Maria", "Girelli"],
- ["Paolo", "Milani"],
- ["Tiziana", "Bosoni"],
- ["Margherita", "Massa"],
- ["Carlotta", "Abb\u00e0"],
- ["Rita", "Campanelli"],
- ["Jessica", "Ripepi"],
- ["Annalisa", "De Silvestri"],
- ["Adriana", "Carolei"],
- ["Giovanni", "Palladini"],
- ["Marco", "Zecca"],
- ["Mario", "Nuvolone"],
- ["Maria Antonietta", "Avanzini"]
- ],
- "publisher": "Biomedicines",
- "issn": "2227-9059",
- "date": "2021-10-22",
- "abstract": "Immunoglobulin light-chain amyloidosis (AL) is caused by misfolded light chains produced by a small B cell clone. Mesenchymal stromal cells (MSCs) have been reported to affect plasma cell behavior. We aimed to characterize bone marrow (BM)-MSCs from AL patients, considering functional aspects, such as proliferation, differentiation, and immunomodulatory capacities. MSCs were in vitro expanded from the BM of 57 AL patients and 14 healthy donors (HDs). MSC surface markers were analyzed by flow cytometry, osteogenic and adipogenic differentiation capacities were in vitro evaluated, and co-culture experiments were performed in order to investigate MSC immunomodulatory properties towards the ALMC-2 cell line and HD peripheral blood mononuclear cells (PBMCs). AL-MSCs were comparable to HD-MSCs for morphology, immune-phenotype, and differentiation capacities. AL-MSCs showed a reduced proliferation rate, entering senescence at earlier passages than HD-MSCs. The AL-MSC modulatory effect on the plasma-cell line or circulating plasma cells was comparable to that of HD-MSCs. To our knowledge, this is the first study providing a comprehensive characterization of AL-MSCs. It remains to be defined if the observed abnormalities are the consequence of or are involved in the disease pathogenesis. BM microenvironment components in AL may represent the targets for the prevention/treatment of the disease in personalized therapies.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34829752"
-},
-{
- "id": "pmid:34806402",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34806402",
- "title": "Efficient and Precise Processing of the Optimized Primary Artificial MicroRNA in a Huntingtin-Lowering Adeno-Associated Viral Gene Therapy",
- "type": "article-journal",
- "doi": "10.1089/hum.2021.221",
- "authors": [
- ["Wei", "Wang"],
- ["Pengcheng", "Zhou"],
- ["Xin", "Wang"],
- ["Fen", "Chen"],
- ["Emily", "Christensen"],
- ["Jeffrey", "Thompson"],
- ["Xiaoqin", "Ren"],
- ["Adrian", "Kells"],
- ["Lisa", "Stanek"],
- ["Todd", "Carter"],
- ["Jay", "Hou"],
- ["Dinah W Y", "Sah"]
- ],
- "publisher": "Human gene therapy",
- "issn": "1557-7422",
- "date": "2022-01-10",
- "abstract": "Huntington's disease is a fatal neurodegenerative disorder caused by an inherited mutation in the huntingtin (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34806402"
-},
-{
- "id": "pmid:34718701",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34718701",
- "title": "FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkab899",
- "authors": [
- ["Xiaonan", "Zhao"],
- ["Huiyan", "Lu"],
- ["Karen", "Usdin"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2021-11-18",
- "abstract": "The Repeat Expansion Diseases, a large group of human diseases that includes the fragile X-related disorders (FXDs) and Huntington's disease (HD), all result from expansion of a disease-specific microsatellite via a mechanism that is not fully understood. We have previously shown that mismatch repair (MMR) proteins are required for expansion in a mouse model of the FXDs, but that the FANCD2 and FANCI associated nuclease 1 (FAN1), a component of the Fanconi anemia (FA) DNA repair pathway, is protective. FAN1's nuclease activity has been reported to be dispensable for protection against expansion in an HD cell model. However, we show here that in a FXD mouse model a point mutation in the nuclease domain of FAN1 has the same effect on expansion as a null mutation. Furthermore, we show that FAN1 and another nuclease, EXO1, have an additive effect in protecting against MSH3-dependent expansions. Lastly, we show that the loss of FANCD2, a vital component of the Fanconi anemia DNA repair pathway, has no effect on expansions. Thus, FAN1 protects against MSH3-dependent expansions without diverting the expansion intermediates into the canonical FA pathway and this protection depends on FAN1 having an intact nuclease domain.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34718701"
-},
-{
- "id": "pmid:34658796",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34658796",
- "title": "Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington's Disease PSC-Derived Striatal Neurons.",
- "type": "article-journal",
- "doi": "10.3389/fncel.2021.742763",
- "authors": [
- ["Jenny", "Lange"],
- ["Alison", "Wood-Kaczmar"],
- ["Aneesa", "Ali"],
- ["Sahar", "Farag"],
- ["Rhia", "Ghosh"],
- ["Jennifer", "Parker"],
- ["Caroline", "Casey"],
- ["Yumiko", "Uno"],
- ["Akiyoshi", "Kunugi"],
- ["Patrizia", "Ferretti"],
- ["Ralph", "Andre"],
- ["Sarah J", "Tabrizi"]
- ],
- "publisher": "Frontiers in cellular neuroscience",
- "issn": "1662-5102",
- "date": "2021-09-29",
- "abstract": "Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34658796"
-},
-{
- "id": "pmid:34631219",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34631219",
- "title": "Targeting Mitochondrial Network Disorganization is Protective in",
- "type": "article-journal",
- "doi": "10.14336/ad.2021.0404",
- "authors": [
- ["Emily", "Machiela"],
- ["Paige D", "Rudich"],
- ["Annika", "Traa"],
- ["Ulrich", "Anglas"],
- ["Sonja K", "Soo"],
- ["Megan M", "Senchuk"],
- ["Jeremy M", "Van Raamsdonk"]
- ],
- "publisher": "Aging and disease",
- "issn": "2152-5250",
- "date": "2021-10-01",
- "abstract": "Huntington's disease (HD) is an adult-onset neurodegenerative disease caused by a trinucleotide CAG repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34631219"
-},
-{
- "id": "pmid:34608934",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34608934",
- "title": "Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects.",
- "type": "article-journal",
- "doi": "10.1242/dev.199513",
- "authors": [
- ["Szilvia", "Galgoczi"],
- ["Albert", "Ruzo"],
- ["Christian", "Markopoulos"],
- ["Anna", "Yoney"],
- ["Tien", "Phan-Everson"],
- ["Shu", "Li"],
- ["Tomomi", "Haremaki"],
- ["Jakob J", "Metzger"],
- ["Fred", "Etoc"],
- ["Ali H", "Brivanlou"]
- ],
- "publisher": "Development (Cambridge, England)",
- "issn": "1477-9129",
- "date": "2021-10-05",
- "abstract": "Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG repeats in the huntingtin gene (HTT). Although HD has been shown to have a developmental component, how early during human embryogenesis the HTT-CAG expansion can cause embryonic defects remains unknown. Here, we demonstrate a specific and highly reproducible CAG length-dependent phenotypic signature in a synthetic model for human gastrulation derived from human embryonic stem cells (hESCs). Specifically, we observed a reduction in the extension of the ectodermal compartment that is associated with enhanced activin signaling. Surprisingly, rather than a cell-autonomous effect, tracking the dynamics of TGF\u03b2 signaling demonstrated that HTT-CAG expansion perturbs the spatial restriction of activin response. This is due to defects in the apicobasal polarization in the context of the polarized epithelium of the 2D gastruloid, leading to ectopic subcellular localization of TGF\u03b2 receptors. This work refines the earliest developmental window for the prodromal phase of HD to the first 2 weeks of human development, as modeled by our 2D gastruloids.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34608934"
-},
-{
- "id": "pmid:34539331",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34539331",
- "title": "Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients.",
- "type": "article-journal",
- "doi": "10.3389/fnins.2021.695049",
- "authors": [
- ["Assunta", "Ingannato"],
- ["Silvia", "Bagnoli"],
- ["Salvatore", "Mazzeo"],
- ["Valentina", "Bessi"],
- ["Sabrina", "Mat\u00e0"],
- ["Monica", "Del Mastio"],
- ["Gemma", "Lombardi"],
- ["Camilla", "Ferrari"],
- ["Sandro", "Sorbi"],
- ["Benedetta", "Nacmias"]
- ],
- "publisher": "Frontiers in neuroscience",
- "issn": "1662-4548",
- "date": "2021-09-03",
- "abstract": "To study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34539331"
-},
-{
- "id": "pmid:34520257",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34520257",
- "title": "Oligonucleotides Targeting DNA Repeats Downregulate",
- "type": "article-journal",
- "doi": "10.1089/nat.2021.0021",
- "authors": [
- ["Tea", "Umek"],
- ["Thomas", "Olsson"],
- ["Olof", "Gissberg"],
- ["Osama", "Saher"],
- ["Eman M", "Zaghloul"],
- ["Karin E", "Lundin"],
- ["Jesper", "Wengel"],
- ["Eric", "Hanse"],
- ["Henrik", "Zetterberg"],
- ["Dzeneta", "Vizlin-Hodzic"],
- ["C I Edvard", "Smith"],
- ["Rula", "Zain"]
- ],
- "publisher": "Nucleic acid therapeutics",
- "issn": "2159-3345",
- "date": "2021-09-13",
- "abstract": "Huntington's disease (HD) is one of the most common, dominantly inherited neurodegenerative disorders. It affects the striatum, cerebral cortex, and other subcortical structures leading to involuntary movement abnormalities, emotional disturbances, and cognitive impairments. HD is caused by a CAG\u2022CTG trinucleotide-repeat expansion in exon 1 of the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34520257"
-},
-{
- "id": "pmid:34504195",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34504195",
- "title": "Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates.",
- "type": "article-journal",
- "doi": "10.1038/s41598-021-97334-z",
- "authors": [
- ["Frank", "Herrmann"],
- ["Manuela", "Hessmann"],
- ["Sabine", "Schaertl"],
- ["Karola", "Berg-Rosseburg"],
- ["Christopher J", "Brown"],
- ["Galina", "Bursow"],
- ["Anass", "Chiki"],
- ["Andreas", "Ebneth"],
- ["Miriam", "Gehrmann"],
- ["Nicole", "Hoeschen"],
- ["Madlen", "Hotze"],
- ["Stefanie", "Jahn"],
- ["Peter D", "Johnson"],
- ["Vinod", "Khetarpal"],
- ["Alex", "Kiselyov"],
- ["Karsten", "Kottig"],
- ["Stefanie", "Ladewig"],
- ["Hilal", "Lashuel"],
- ["Sven", "Letschert"],
- ["Matthew R", "Mills"],
- ["Kathrin", "Petersen"],
- ["Michael E", "Prime"],
- ["Christoph", "Scheich"],
- ["Gerhard", "Schmiedel"],
- ["John", "Wityak"],
- ["Longbin", "Liu"],
- ["Celia", "Dominguez"],
- ["Ignacio", "Mu\u00f1oz-Sanju\u00e1n"],
- ["Jonathan A", "Bard"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2021-09-09",
- "abstract": "Huntington's disease (HD) is caused by a CAG trinucleotide repeat expansion in the first exon of the huntingtin (HTT) gene coding for the huntingtin (HTT) protein. The misfolding and consequential aggregation of CAG-expanded mutant HTT (mHTT) underpin HD pathology. Our interest in the life cycle of HTT led us to consider the development of high-affinity small-molecule binders of HTT oligomerized/amyloid-containing species that could serve as either cellular and in vivo imaging tools or potential therapeutic agents. We recently reported the development of PET tracers CHDI-180 and CHDI-626 as suitable for imaging mHTT aggregates, and here we present an in-depth pharmacological investigation of their binding characteristics. We have implemented an array of in vitro and ex vivo radiometric binding assays using recombinant HTT, brain homogenate-derived HTT aggregates, and brain sections from mouse HD models and humans post-mortem to investigate binding affinities and selectivity against other pathological proteins from indications such as Alzheimer's disease and spinocerebellar ataxia 1. Radioligand binding assays and autoradiography studies using brain homogenates and tissue sections from HD mouse models showed that CHDI-180 and CHDI-626 specifically bind mHTT aggregates that accumulate with age and disease progression. Finally, we characterized CHDI-180 and CHDI-626 regarding their off-target selectivity and binding affinity to beta amyloid plaques in brain sections and homogenates from Alzheimer's disease patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34504195"
-},
-{
- "id": "pmid:34473992",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34473992",
- "title": "DNA polymerase \u03b8 promotes CAG\u2022CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain.",
- "type": "article-journal",
- "doi": "10.1016/j.jbc.2021.101144",
- "authors": [
- ["Kara Y", "Chan"],
- ["Xueying", "Li"],
- ["Janice", "Ortega"],
- ["Liya", "Gu"],
- ["Guo-Min", "Li"]
- ],
- "publisher": "The Journal of biological chemistry",
- "issn": "1083-351X",
- "date": "2021-08-30",
- "abstract": "Huntington's disease (HD), a neurodegenerative disease characterized by progressive dementia, psychiatric problems, and chorea, is known to be caused by CAG repeat expansions in the HD gene HTT. However, the mechanism of this pathology is not fully understood. The translesion DNA polymerase \u03b8\u00a0(Pol\u03b8) carries a large insertion sequence in its catalytic domain, which has been shown to allow DNA loop-outs in the primer strand. As a result of high levels of oxidative DNA damage in neural cells and Pol\u03b8's subsequent involvement in base excision repair of oxidative DNA damage, we hypothesized that Pol\u03b8 contributes to CAG repeat expansion while repairing oxidative damage within HTT. Here, we performed Pol\u03b8-catalyzed in\u00a0vitro DNA synthesis using various CAG\u2022CTG repeat DNA substrates that are similar to base excision repair intermediates. We show that Pol\u03b8 efficiently extends (CAG)",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34473992"
-},
-{
- "id": "pmid:34469738",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34469738",
- "title": "FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.celrep.2021.109649",
- "authors": [
- ["Robert", "Goold"],
- ["Joseph", "Hamilton"],
- ["Thomas", "Menneteau"],
- ["Michael", "Flower"],
- ["Emma L", "Bunting"],
- ["Sarah G", "Aldous"],
- ["Antonio", "Porro"],
- ["Jos\u00e9 R", "Vicente"],
- ["Nicholas D", "Allen"],
- ["Hilary", "Wilkinson"],
- ["Gillian P", "Bates"],
- ["Alessandro A", "Sartori"],
- ["Konstantinos", "Thalassinos"],
- ["Gabriel", "Balmus"],
- ["Sarah J", "Tabrizi"]
- ],
- "publisher": "Cell reports",
- "issn": "2211-1247",
- "date": "2021-08-31",
- "abstract": "CAG repeat expansion in the HTT gene drives Huntington's disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of the DNA mismatch repair pathway (MMR), is not defined. Here, we identify a highly conserved SPYF motif at the N terminus of FAN1 that binds to MLH1. Our data support a model where FAN1 has two distinct functions to stabilize CAG repeats. On one hand, it binds MLH1 to restrict its recruitment by MSH3, thus inhibiting the assembly of a functional MMR complex that would otherwise promote CAG repeat expansion. On the other hand, it promotes accurate repair via its nuclease activity. These data highlight a potential avenue for HD therapeutics in attenuating somatic expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34469738"
-},
-{
- "id": "pmid:34423286",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423286",
- "title": "A Multi-Study Model-Based Evaluation of the Sequence of Imaging and Clinical Biomarker Changes in Huntington's Disease.",
- "type": "article-journal",
- "doi": "10.3389/fdata.2021.662200",
- "authors": [
- ["Peter A", "Wijeratne"],
- ["Eileanoir B", "Johnson"],
- ["Sarah", "Gregory"],
- ["Nellie", "Georgiou-Karistianis"],
- ["Jane S", "Paulsen"],
- ["Rachael I", "Scahill"],
- ["Sarah J", "Tabrizi"],
- ["Daniel C", "Alexander"]
- ],
- "publisher": "Frontiers in big data",
- "issn": "2624-909X",
- "date": "2021-08-05",
- "abstract": "Understanding the order and progression of change in biomarkers of neurodegeneration is essential to detect the effects of pharmacological interventions on these biomarkers. In Huntington's disease (HD), motor, cognitive and MRI biomarkers are currently used in clinical trials of drug efficacy. Here for the first time we use directly compare data from three large observational studies of HD (total",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423286"
-},
-{
- "id": "pmid:34423068",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34423068",
- "title": "Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.",
- "type": "article-journal",
- "doi": "10.1177/2329048x211036137",
- "authors": [
- ["Ashley A", "Moeller"],
- ["Marcia V", "Felker"],
- ["Jennifer A", "Brault"],
- ["Laura C", "Duncan"],
- ["Rizwan", "Hamid"],
- ["Meredith R", "Golomb"]
- ],
- "publisher": "Child neurology open",
- "issn": "2329-048X",
- "date": "2021-08-05",
- "abstract": "Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34423068"
-},
-{
- "id": "pmid:34376056",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34376056",
- "title": "Allele-Specific Knockdown of Mutant Huntingtin Protein via Editing at Coding Region Single Nucleotide Polymorphism Heterozygosities.",
- "type": "article-journal",
- "doi": "10.1089/hum.2020.323",
- "authors": [
- ["Sarah R", "Oikemus"],
- ["Edith L", "Pfister"],
- ["Ellen", "Sapp"],
- ["Kathryn O", "Chase"],
- ["Lori A", "Kennington"],
- ["Edward", "Hudgens"],
- ["Rachael", "Miller"],
- ["Lihua Julie", "Zhu"],
- ["Akanksh", "Chaudhary"],
- ["Eric O", "Mick"],
- ["Miguel", "Sena-Esteves"],
- ["Scot A", "Wolfe"],
- ["Marian", "DiFiglia"],
- ["Neil", "Aronin"],
- ["Michael H", "Brodsky"]
- ],
- "publisher": "Human gene therapy",
- "issn": "1557-7422",
- "date": "2022-01-01",
- "abstract": "Huntington's disease (HD) is a devastating, autosomal dominant neurodegenerative disease caused by a trinucleotide repeat expansion in the huntingtin (HTT) gene. Inactivation of the mutant allele by clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 based gene editing offers a possible therapeutic approach for this disease, but permanent disruption of normal HTT function might compromise adult neuronal function. Here, we use a novel HD mouse model to examine allele-specific editing of mutant HTT (mHTT), with a BAC97 transgene expressing mHTT and a YAC18 transgene expressing normal HTT. We achieve allele-specific inactivation of HTT by targeting a protein coding sequence containing a common, heterozygous single nucleotide polymorphism (SNP). The outcome is a marked and allele-selective reduction of mHTT protein in a mouse model of HD. Expression of a single CRISPR-Cas9 nuclease in neurons generated a high frequency of mutations in the targeted HD allele that included both small insertion/deletion (InDel) mutations and viral vector insertions. Thus, allele-specific targeting of InDel and insertion mutations to heterozygous coding region SNPs provides a feasible approach to inactivate autosomal dominant mutations that cause genetic disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34376056"
-},
-{
- "id": "pmid:34330701",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34330701",
- "title": "FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.",
- "type": "article-journal",
- "doi": "10.1126/sciadv.abf7906",
- "authors": [
- ["Antonio", "Porro"],
- ["Mohiuddin", "Mohiuddin"],
- ["Christina", "Zurfluh"],
- ["Vincent", "Spegg"],
- ["Jingqi", "Dai"],
- ["Florence", "Iehl"],
- ["Virginie", "Ropars"],
- ["Giulio", "Collotta"],
- ["Keri M", "Fishwick"],
- ["Nour L", "Mozaffari"],
- ["Rapha\u00ebl", "Gu\u00e9rois"],
- ["Josef", "Jiricny"],
- ["Matthias", "Altmeyer"],
- ["Jean-Baptiste", "Charbonnier"],
- ["Christopher E", "Pearson"],
- ["Alessandro A", "Sartori"]
- ],
- "publisher": "Science advances",
- "issn": "2375-2548",
- "date": "2021-07-30",
- "abstract": "FAN1, a DNA structure-specific nuclease, interacts with MLH1, but the repair pathways in which this complex acts are unknown. FAN1 processes DNA interstrand crosslinks (ICLs) and FAN1 variants are modifiers of the neurodegenerative Huntington's disease (HD), presumably by regulating HD-causing CAG repeat expansions. Here, we identify specific amino acid residues in two adjacent FAN1 motifs that are critical for MLH1 binding. Disruption of the FAN1-MLH1 interaction confers cellular hypersensitivity to ICL damage and defective repair of CAG/CTG slip-outs, intermediates of repeat expansion mutations. FAN1-S126 phosphorylation, which hinders FAN1-MLH1 association, is cell cycle-regulated by cyclin-dependent kinase activity and attenuated upon ICL induction. Our data highlight the FAN1-MLH1 complex as a phosphorylation-regulated determinant of ICL response and repeat stability, opening novel paths to modify cancer and neurodegeneration.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34330701"
-},
-{
- "id": "pmid:34296279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34296279",
- "title": "Immortalized striatal precursor neurons from Huntington's disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddab200",
- "authors": [
- ["Sergey S", "Akimov"],
- ["Mali", "Jiang"],
- ["Amanda J", "Kedaigle"],
- ["Nicolas", "Arbez"],
- ["Leonard O", "Marque"],
- ["Chelsy R", "Eddings"],
- ["Paul T", "Ranum"],
- ["Emma", "Whelan"],
- ["Anthony", "Tang"],
- ["Ronald", "Wang"],
- ["Lauren R", "DeVine"],
- ["Conover C", "Talbot"],
- ["Robert N", "Cole"],
- ["Tamara", "Ratovitski"],
- ["Beverly L", "Davidson"],
- ["Ernest", "Fraenkel"],
- ["Christopher A", "Ross"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2021-11-30",
- "abstract": "We have previously established induced pluripotent stem cell (iPSC) models of Huntington's disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersome and time consuming, making preparation of large quantities of cells for biochemical or screening assays difficult. Here, we report the generation of immortalized striatal precursor neurons (ISPNs) with normal (33) and expanded (180) CAG repeats from HD iPSCs, differentiated to a phenotype resembling medium spiny neurons (MSN), as a proof of principle for a more tractable patient-derived cell model. For immortalization, we used co-expression of the enzymatic component of telomerase hTERT and conditional expression of c-Myc. ISPNs can be propagated as stable adherent cell lines, and rapidly differentiated into highly homogeneous MSN-like cultures within 2 weeks, as demonstrated by immunocytochemical criteria. Differentiated ISPNs recapitulate major HD-related phenotypes of the parental iPSC model, including brain-derived neurotrophic factor (BDNF)-withdrawal-induced cell death that can be rescued by small molecules previously validated in the parental iPSC model. Proteome and RNA-seq analyses demonstrate separation of HD versus control samples by principal component analysis. We identified several networks, pathways, and upstream regulators, also found altered in HD iPSCs, other HD models, and HD patient samples. HD ISPN lines may be useful for studying HD-related cellular pathogenesis, and for use as a platform for HD target identification and screening experimental therapeutics. The described approach for generation of ISPNs from differentiated patient-derived iPSCs could be applied to a larger allelic series of HD cell lines, and to comparable modeling of other genetic disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34296279"
-},
-{
- "id": "pmid:33983118",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33983118",
- "title": "Propensity for somatic expansion increases over the course of life in Huntington disease.",
- "type": "article-journal",
- "doi": "10.7554/elife.64674",
- "authors": [
- ["Radhia", "Kacher"],
- ["Fran\u00e7ois-Xavier", "Lejeune"],
- ["Sandrine", "No\u00ebl"],
- ["C\u00e9cile", "Cazeneuve"],
- ["Alexis", "Brice"],
- ["Sandrine", "Humbert"],
- ["Alexandra", "Durr"]
- ],
- "publisher": "eLife",
- "issn": "2050-084X",
- "date": "2021-05-13",
- "abstract": "Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD mutation carriers over a twenty-year period, along with post-mortem tissue from 15 adults and 7 fetal mutation carriers, to examine somatic expansions at different stages of life. Post-mortem brains, as previously reported, had the greatest expansions, but fetal cortex had virtually none. Somatic instability in blood increased with age, despite blood cells being short-lived compared to neurons, and was driven mostly by CAG repeat length, then by age at sampling and by interaction between these two variables. Expansion rates were higher in symptomatic subjects. These data lend support to a previously proposed computational model of somatic instability-driven disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33983118"
-},
-{
- "id": "pmid:33918672",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33918672",
- "title": "Genetic Screen in Adult Drosophila Reveals That dCBP Depletion in Glial Cells Mitigates Huntington Disease Pathology through a Foxo-Dependent Pathway.",
- "type": "article-journal",
- "doi": "10.3390/ijms22083884",
- "authors": [
- ["Elodie", "Martin"],
- ["Raheleh", "Heidari"],
- ["V\u00e9ronique", "Monnier"],
- ["Herv\u00e9", "Tricoire"]
- ],
- "publisher": "International journal of molecular sciences",
- "issn": "1422-0067",
- "date": "2021-04-09",
- "abstract": "Huntington's disease (HD) is a progressive and fatal autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the first exon of the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33918672"
-},
-{
- "id": "pmid:33907289",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33907289",
- "title": "The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction.",
- "type": "article-journal",
- "doi": "10.1038/s41598-021-88715-5",
- "authors": [
- ["Casandra", "Gomez-Paredes"],
- ["Michael A", "Mason"],
- ["Bridget A", "Taxy"],
- ["Aikaterini S", "Papadopoulou"],
- ["Paolo", "Paganetti"],
- ["Gillian P", "Bates"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2021-04-27",
- "abstract": "Huntington's disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains. We have previously shown that the heat shock response becomes impaired with disease progression in mouse models of HD. The disruption of this inducible arm of the proteostasis network is likely to exacerbate the pathogenesis of this protein-folding disease. To allow a rapid and more comprehensive analysis of the heat shock response, we have developed, and validated, a 16-plex QuantiGene assay that allows the expression of Hsf1 and nine heat shock genes, to be measured directly, and simultaneously, from mouse tissue. We used this QuantiGene assay to show that, following pharmacological activation in vivo, the heat shock response impairment in tibialis anterior, brain hemispheres and striatum was comparable between zQ175 and R6/2 mice. In contrast, although a heat shock impairment could be detected in R6/2 cortex, this was not apparent in the cortex from zQ175 mice. Whilst the mechanism underlying this impairment remains unknown, our data indicated that it is not caused by a reduction in HSF1 levels, as had been reported.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33907289"
-},
-{
- "id": "pmid:33892278",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33892278",
- "title": "A series of cases with Huntington-like phenotype and intermediate repeats in HTT.",
- "type": "article-journal",
- "doi": "10.1016/j.jns.2021.117452",
- "authors": [
- ["Ant\u00eda", "Reguera Acu\u00f1a"],
- ["Esther", "Su\u00e1rez San Mart\u00edn"],
- ["Ciara", "Garc\u00eda Fern\u00e1ndez"],
- ["Santiago", "Fern\u00e1ndez Men\u00e9ndez"],
- ["Marta", "Bl\u00e1zquez Estrada"],
- ["Manuel", "Amor\u00edn D\u00edaz"],
- ["Manuel", "Men\u00e9ndez Gonz\u00e1lez"],
- ["Victoria", "\u00c1lvarez Mart\u00ednez"]
- ],
- "publisher": "Journal of the neurological sciences",
- "issn": "1878-5883",
- "date": "2021-04-16",
- "abstract": "Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33892278"
-},
-{
- "id": "pmid:33805940",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33805940",
- "title": "Longitudinal Evaluation of the Effect of Tricyclic Antidepressants and Neuroleptics on the Course of Huntington's Disease-Data from a Real World Cohort.",
- "type": "article-journal",
- "doi": "10.3390/brainsci11040413",
- "authors": [
- ["Jannis", "Achenbach"],
- ["Carsten", "Saft"],
- ["Simon", "Faissner"]
- ],
- "publisher": "Brain sciences",
- "issn": "2076-3425",
- "date": "2021-03-25",
- "abstract": "",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33805940"
-},
-{
- "id": "pmid:33766994",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33766994",
- "title": "Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.",
- "type": "article-journal",
- "doi": "10.1212/wnl.0000000000011893",
- "authors": [
- ["Branduff", "McAllister"],
- ["James F", "Gusella"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Jong-Min", "Lee"],
- ["Marcy E", "MacDonald"],
- ["Michael", "Orth"],
- ["Anne E", "Rosser"],
- ["Nigel M", "Williams"],
- ["Peter", "Holmans"],
- ["Lesley", "Jones"],
- ["Thomas H", "Massey"]
- ],
- "publisher": "Neurology",
- "issn": "1526-632X",
- "date": "2021-03-25",
- "abstract": "To assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33766994"
-},
-{
- "id": "pmid:33751106",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33751106",
- "title": "Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkab152",
- "authors": [
- ["Jennie C L", "Roy"],
- ["Antonia", "Vitalo"],
- ["Marissa A", "Andrew"],
- ["Eduarda", "Mota-Silva"],
- ["Marina", "Kovalenko"],
- ["Zoe", "Burch"],
- ["Anh M", "Nhu"],
- ["Paula E", "Cohen"],
- ["Ed", "Grabczyk"],
- ["Vanessa C", "Wheeler"],
- ["Ricardo", "Mouro Pinto"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2021-04-19",
- "abstract": "Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are critical drivers of somatic expansion in HD mouse models. Here, we have tested, using genetic and pharmacological approaches, the role of the endonuclease domain of the mismatch repair protein MLH3 in somatic CAG expansion in HD mice and patient cells. A point mutation in the MLH3 endonuclease domain completely eliminated CAG expansion in the brain and peripheral tissues of a HD knock-in mouse model (HttQ111). To test whether the MLH3 endonuclease could be manipulated pharmacologically, we delivered splice switching oligonucleotides in mice to redirect Mlh3 splicing to exclude the endonuclease domain. Splice redirection to an isoform lacking the endonuclease domain was associated with reduced CAG expansion. Finally, CAG expansion in HD patient-derived primary fibroblasts was also significantly reduced by redirecting MLH3 splicing to the endogenous endonuclease domain-lacking isoform. These data indicate the potential of targeting the MLH3 endonuclease domain to slow somatic CAG repeat expansion in HD, a therapeutic strategy that may be applicable across multiple repeat expansion disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33751106"
-},
-{
- "id": "pmid:33675499",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33675499",
- "title": "Small Non-coding RNAs Are Dysregulated in Huntington's Disease Transgenic Mice Independently of the Therapeutic Effects of an Environmental Intervention.",
- "type": "article-journal",
- "doi": "10.1007/s12035-021-02342-9",
- "authors": [
- ["Celine", "Dubois"],
- ["Geraldine", "Kong"],
- ["Harvey", "Tran"],
- ["Shanshan", "Li"],
- ["Terence Y", "Pang"],
- ["Anthony J", "Hannan"],
- ["Thibault", "Renoir"]
- ],
- "publisher": "Molecular neurobiology",
- "issn": "1559-1182",
- "date": "2021-03-06",
- "abstract": "Huntington's disease (HD) is a neurodegenerative disorder caused by a trinucleotide repeat expansion in the huntingtin gene. Transcriptomic dysregulations are well-documented in HD and alterations in small non-coding RNAs (sncRNAs), particularly microRNAs (miRNAs), could underpin that phenomenon. Additionally, environmental enrichment (EE), which is used to model a stimulating lifestyle in pre-clinical research, has been shown to ameliorate HD-related symptoms. However, the mechanisms mediating the therapeutic effects of EE remain largely unknown. This study assessed the effect of EE on sncRNA expression in the striatum of female R6/1 transgenic HD mice at 12 weeks (prior to over motor deficits) and 20 weeks (fully symptomatic) of age. When comparing wild-type and R6/1 mice in the standard housing condition, we found 6 and 64 miRNAs that were differentially expressed at 12 and 20 weeks of age, respectively. The 6 miRNAs (miR-132, miR-212, miR-222, miR-1a, miR-467a, and miR-669c) were commonly dysregulated at both time points. Additionally, genotype had minor effects on the levels of other sncRNAs, in particular, 1 piRNA was dysregulated at 12 weeks of age, and at 20 weeks of age 11 piRNAs, 1 tRNA- and 2 snoRNA-derived fragments were altered in HD mice. No difference in the abundance of other sncRNA subtypes, including rRNA- and snRNA- derived fragments, were observed. While EE improved locomotor symptoms in HD, we found no effect of the housing condition on any of the sncRNA populations examined. Our findings show that HD mainly affects miRNAs and has a minor effect on other sncRNA populations. Furthermore, the therapeutic effects of EE are not associated with the rescue of these dysregulated sncRNAs and may therefore exert these experience-dependent effects via other molecular mechanisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33675499"
-},
-{
- "id": "pmid:33606279",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33606279",
- "title": "An imaging mass spectrometry atlas of lipids in the human neurologically normal and Huntington's disease caudate nucleus.",
- "type": "article-journal",
- "doi": "10.1111/jnc.15325",
- "authors": [
- ["Mandana", "Hunter"],
- ["Nicholas J", "Demarais"],
- ["Richard L M", "Faull"],
- ["Angus C", "Grey"],
- ["Maurice A", "Curtis"]
- ],
- "publisher": "Journal of neurochemistry",
- "issn": "1471-4159",
- "date": "2021-03-08",
- "abstract": "Huntington's disease (HD) is a fatal disorder associated with germline trinucleotide repeat expansions in the HTT gene and characterised by striatal neurodegeneration. No efficacious interventions are available for HD, highlighting a major unmet medical need. The molecular mechanisms underlying HD are incompletely understood despite its monogenic aetiology. However, direct interactions between HTT and membrane lipids suggest that lipidomic perturbations may be implicated in the neuropathology of HD. In this study, we employed matrix-assisted laser desorption/ionisation imaging mass spectrometry (MALDI-IMS) to generate a comprehensive, unbiased and spatially resolved lipidomic atlas of the caudate nucleus (CN) in human post-mortem tissue from neurologically normal (n\u00a0=\u00a010) and HD (n\u00a0=\u00a013) subjects. Fourier transform-ion cyclotron resonance mass spectrometry and liquid chromatography-tandem mass spectrometry were used for lipid assignment. Lipidomic specialisation was observed in the grey and white matter constituents of the CN and these features were highly conserved between subjects. While the majority of lipid species were highly conserved in HD, compared to age-matched controls, CN specimens from HD cases in our cohort spanning a range of neuropathological grades showed a lower focal abundance of the neuroprotective docosahexaenoic and adrenic acids, several cardiolipins, the ganglioside GM1 and glycerophospholipids with long polyunsaturated fatty acyls. HD cases showed a higher focal abundance of several sphingomyelins and glycerophospholipids with shorter monosaturated fatty acyls. Moreover, we demonstrate that MALDI-IMS is tractable as a primary discovery modality comparing heterogeneous human brain tissue, provided that appropriate statistical approaches are adopted. Our findings support further investigation into the potential role of lipidomic aberrations in HD.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33606279"
-},
-{
- "id": "pmid:33581487",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33581487",
- "title": "Traffic generated emissions alter the lung microbiota by promoting the expansion of Proteobacteria in C57Bl/6 mice placed on a high-fat diet.",
- "type": "article-journal",
- "doi": "10.1016/j.ecoenv.2021.112035",
- "authors": [
- ["Sarah", "Daniel"],
- ["Vaidehi", "Pusadkar"],
- ["Jacob", "McDonald"],
- ["Julie", "Mirpuri"],
- ["Rajeev K", "Azad"],
- ["Art", "Goven"],
- ["Amie K", "Lund"]
- ],
- "publisher": "Ecotoxicology and environmental safety",
- "issn": "1090-2414",
- "date": "2021-02-11",
- "abstract": "Air pollution has been documented to contribute to severe respiratory diseases like asthma and chronic obstructive pulmonary disorder (COPD). Although these diseases demonstrate a shift in the lung microbiota towards Proteobacteria, the effects of traffic generated emissions on lung microbiota profiles have not been well-characterized. Thus, we investigated the hypothesis that exposure to traffic-generated emissions can alter lung microbiota and immune defenses. Since a large population of the Western world consumes a diet rich in fats, we sought to investigate the synergistic effects of mixed vehicle emissions and high-fat diet consumption. We exposed 3-month-old male C57Bl/6 mice placed either on regular chow (LF) or a high-fat (HF: 45% kcal fat) diet to mixed emissions (ME: 30\u00a0\u00b5g PM/m",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33581487"
-},
-{
- "id": "pmid:33579864",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/33579864",
- "title": "Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.",
- "type": "article-journal",
- "doi": "10.3233/jhd-200433",
- "authors": [
- ["Marc", "Ciosi"],
- ["Sarah A", "Cumming"],
- ["Afroditi", "Chatzi"],
- ["Eloise", "Larson"],
- ["William", "Tottey"],
- ["Vilija", "Lomeikaite"],
- ["Graham", "Hamilton"],
- ["Vanessa C", "Wheeler"],
- ["Ricardo Mouro", "Pinto"],
- ["Seung", "Kwak"],
- ["A Jennifer", "Morton"],
- ["Darren G", "Monckton"]
- ],
- "publisher": "Journal of Huntington's disease",
- "issn": "1879-6400",
- "date": "2021-01-01",
- "abstract": "Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit \u226536 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is genetically unstable in the soma in a process that preferentially generates somatic expansions, the proportion of which is associated with disease onset, severity and progression. Somatic mosaicism of the HTT CAG repeat has traditionally been assessed by semi-quantitative PCR-electrophoresis approaches that have limitations (e.g., no information about sequence variants). Genotyping-by-sequencing could allow for some of these limitations to be overcome.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33579864"
-},
-{
- "id": "pmid:27677791",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27677791",
- "title": "CAG Expansions Are Genetically Stable and Form Nontoxic Aggregates in Cells Lacking Endogenous Polyglutamine Proteins.",
- "type": "article-journal",
- "doi": "10.1128/mbio.01367-16",
- "authors": [
- ["Ashley A", "Zurawel"],
- ["Ruth", "Kabeche"],
- ["Sonja E", "DiGregorio"],
- ["Lin", "Deng"],
- ["Kartikeya M", "Menon"],
- ["Hannah", "Opalko"],
- ["Martin L", "Duennwald"],
- ["James B", "Moseley"],
- ["Surachai", "Supattapone"]
- ],
- "publisher": "mBio",
- "issn": "2150-7511",
- "date": "2016-09-27",
- "abstract": "Proteins containing polyglutamine (polyQ) regions are found in almost all eukaryotes, albeit with various frequencies. In humans, proteins such as huntingtin (Htt) with abnormally expanded polyQ regions cause neurodegenerative diseases such as Huntington's disease (HD). To study how the presence of endogenous polyQ aggregation modulates polyQ aggregation and toxicity, we expressed polyQ expanded Htt fragments (polyQ Htt) in Schizosaccharomyces pombe In stark contrast to other unicellular fungi, such as Saccharomyces cerevisiae, S.\u00a0pombe is uniquely devoid of proteins with more than 10 Q repeats. We found that polyQ Htt forms aggregates within S.\u00a0pombe cells only with exceedingly long polyQ expansions. Surprisingly, despite the presence of polyQ Htt aggregates in both the cytoplasm and nucleus, no significant growth defect was observed in S.\u00a0pombe cells. Further, PCR analysis showed that the repetitive polyQ-encoding DNA region remained constant following transformation and after multiple divisions in S.\u00a0pombe, in contrast to the genetic instability of polyQ DNA sequences in other organisms. These results demonstrate that cells with a low content of polyQ or other aggregation-prone proteins can show a striking resilience with respect to polyQ toxicity and that genetic instability of repetitive DNA sequences may have played an important role in the evolutionary emergence and exclusion of polyQ expansion proteins in different organisms.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27677791"
-},
-{
- "id": "pmid:26410751",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/26410751",
- "title": "Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.",
- "type": "article-journal",
- "doi": "10.1007/s00415-015-7900-7",
- "authors": [
- ["Dawei", "Liu"],
- ["Jeffrey D", "Long"],
- ["Ying", "Zhang"],
- ["Lynn A", "Raymond"],
- ["Karen", "Marder"],
- ["Anne", "Rosser"],
- ["Elizabeth A", "McCusker"],
- ["James A", "Mills"],
- ["Jane S", "Paulsen"]
- ],
- "publisher": "Journal of neurology",
- "issn": "1432-1459",
- "date": "2015-09-26",
- "abstract": "Huntington disease (HD) is a neurodegenerative disorder characterized by motor dysfunction, cognitive deterioration, and psychiatric symptoms, with progressive motor impairments being a prominent feature. The primary objectives of this study are to delineate the disease course of motor function in HD, to provide estimates of the onset of motor impairments and motor diagnosis, and to examine the effects of genetic and demographic variables on the progression of motor impairments. Data from an international multisite, longitudinal observational study of 905 prodromal HD participants with cytosine-adenine-guanine (CAG) repeats of at least 36 and with at least two visits during the followup period from 2001 to 2012 was examined for changes in the diagnostic confidence level from the Unified Huntington's Disease Rating Scale. HD progression from unimpaired to impaired motor function, as well as the progression from motor impairment to diagnosis, was associated with the linear effect of age and CAG repeat length. Specifically, for every 1-year increase in age, the risk of transition in diagnostic confidence level increased by 11% (95% CI 7-15%) and for one repeat length increase in CAG, the risk of transition in diagnostic confidence level increased by 47% (95% CI 27-69%). Findings show that CAG repeat length and age increased the likelihood of the first onset of motor impairment as well as the age at diagnosis. Results suggest that more accurate estimates of HD onset age can be obtained by incorporating the current status of diagnostic confidence level into predictive models.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:26410751"
-},
-{
- "id": "genereviews:NBK1487",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1487/",
- "title": "COMP-Related Pseudoachondroplasia",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Michael D.", "Briggs"],
- ["Michael J.", "Wright"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery., The diagnosis of COMP-PSACH can be made on the basis of clinical findings and radiographic features. Identification of a heterozygous pathogenic variant in COMP on molecular genetic testing establishes the diagnosis if clinical features are inconclusive., Treatment of manifestations: Analgesics for joint pain; encourage physical activities that do not cause excessive wear and/or damage to the joints; osteotomy for lower limb malalignment; rarely, surgery for scoliosis; C1-C2 fixation for symptoms and radiographic evidence of cervical spine instability; attention to and social support for psychosocial issues related to short stature for affected individuals and their families. Surveillance: Assess growth at each visit throughout childhood. Regular examinations for evidence of symptomatic joint hypermobility and/or lower limb malalignment, kyphoscoliosis, degenerative joint disease, and neurologic manifestations, particularly spinal cord compression secondary to odontoid hypoplasia. Assess for psychosocial issues annually or at each visit. Agents/circumstances to avoid: In those with odontoid hypoplasia, extreme neck flexion and extension should be avoided., COMP-PSACH is inherited in an autosomal dominant manner. Some individuals diagnosed with COMP-PSACH have an affected parent. A proband diagnosed with COMP-PSACH may have the disorder as the result of a de novo pathogenic variant. Each child of an individual with COMP-PSACH and a reproductive partner with normal bone growth has a 50% chance of inheriting the COMP pathogenic variant and having COMP-PSACH. Because many individuals with short stature select reproductive partners with short stature, offspring of individuals with COMP-PSACH may be at risk of having double heterozygosity for two dominantly inherited bone growth disorders. Once the COMP pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 20301660\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1487"
-},
-{
- "id": "genereviews:NBK1423",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1423/",
- "title": "Hand-Foot-Genital Syndrome",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Jeffrey W.", "Innis"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete m\u00fcllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal., Diagnosis is based on physical examination including radiographs of the hands and feet and imaging studies of the kidneys, bladder, and female reproductive tract. Identification of a heterozygous HOXA13 pathogenic variant can establish the diagnosis if clinical and radiographic features are inconclusive. Approximately 50%-60% of pathogenic variants are polyalanine expansions., Treatment of manifestations: Hand or foot surgery is not usually necessary. Ureteric reimplantation and surgical correction of bladder outlet abnormalities are often necessary. Surgical removal of a longitudinal vaginal septum is rarely indicated. Surgery for removal of a uterine septum or reunification of a bicornuate uterus is exceptional in the absence of recurrent mid-trimester pregnancy loss. Hymenectomy may be necessary for tight constriction ring. Prevention of secondary complications: Prophylactic antibiotics or surgery as needed to prevent urinary tract infections or other complications of ureteral reflux or ureteropelvic junction obstruction; gynecologic examination prior to menstruation for small hymenal opening; pre-pregnancy evaluation of the vaginal and uterine anatomy because of the increased risk for premature labor and fetal loss associated with structural abnormalities of the uterus. Surveillance: Follow up with a urologist in the presence of vesicoureteral reflux and/or documented urinary tract infection., Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo pathogenic variant is unknown because of the small number of individuals described. If a parent of the proband is affected, the recurrence risk to the sibs is 50%. If the proband has a known HOXA13 pathogenic variant that cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental germline mosaicism. Each child of an individual with HFGS has a 50% chance of inheriting the pathogenic variant. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the pathogenic variant in the family is known.",
- "language": "eng",
- "note": "PMID: 20301596\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1423"
-},
-{
- "id": "genereviews:NBK153723",
- "manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK153723/",
- "title": "Autosomal Dominant Tubulointerstitial Kidney Disease \u2013 MUC1",
- "type": "chapter",
- "doi": "",
- "authors": [
- ["Anthony J.", "Bleyer"],
- ["Martina", "\u017divn\u00e1"],
- ["Kendrah", "Kidd"],
- ["Stanislav", "Kmoch"]
- ],
- "publisher": "GeneReviews\u00ae",
- "issn": "",
- "date": "1993-01-01",
- "abstract": "Autosomal dominant tubulointerstitial kidney disease \u2013 MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations., The diagnosis of ADTKD-MUC1 is established in a proband with suggestive clinical findings and molecular genetic testing that reveals a heterozygous pathogenic variant in MUC1 that results in the creation of a specific frameshift protein (MUC1fs) responsible for the pathogenic changes in this disorder., Treatment of manifestations: Treatment follows standard guidelines for chronic kidney disease \u2013 based on the level of the serum creatinine and the estimated glomerular filtration rate (eGFR) \u2013 and its sequelae, which can include hypertension, anemia, and gout. Affected individuals are encouraged to prepare for kidney transplantation, the definitive treatment of ADTKD-MUC1, by staying in optimal health (e.g., by exercising, avoiding obesity and tobacco usage, and maintaining strict control of hypertension, dyslipidemia, and other cardiovascular risk factors). Kidney transplantation is curative; the outcome is excellent. Surveillance: Measurement of hemoglobin, serum concentrations of uric acid and creatinine and blood pressure annually prior to entering CKD Stage 3. Thereafter, follow up is determined by the treating nephrologist. Agents/circumstances to avoid: Affected individuals should follow general recommendations for chronic kidney disease. Pregnancy management: The use of ACE inhibitors should be avoided during pregnancy, as they can result in fetal damage and death. Women who are pregnant, planning a pregnancy, or not actively avoiding pregnancy should be transitioned to another antihypertensive medication. Allopurinol therapy should be stopped during pregnancy, if possible. Evaluation of relatives at risk: For early diagnosis and treatment: It is appropriate to identify as early as possible apparently asymptomatic at-risk adult relatives who have the familial MUC1 variant in order to monitor their serum creatinine levels and promptly initiate treatment and awareness of agents/circumstances to avoid. For kidney donation: Any relative who is a potential kidney donor should undergo molecular genetic testing to clarify the relative's genetic status so that only those who do not have the familial MUC1 pathogenic variant are evaluated further., ADTKD-MUC1 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the MUC1 pathogenic variant. Prenatal testing for MUC1 pathogenic variants is not available in the US at this time.",
- "language": "eng",
- "note": "PMID: 23946964\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK153723"
-},
-{
- "id": "pmid:16804541",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/16804541",
- "title": "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.",
- "type": "article-journal",
- "doi": "10.1038/ng1827",
- "authors": [
- ["Melinda L", "Moseley"],
- ["Tao", "Zu"],
- ["Yoshio", "Ikeda"],
- ["Wangcai", "Gao"],
- ["Anne K", "Mosemiller"],
- ["Randy S", "Daughters"],
- ["Gang", "Chen"],
- ["Marcy R", "Weatherspoon"],
- ["H Brent", "Clark"],
- ["Timothy J", "Ebner"],
- ["John W", "Day"],
- ["Laura P W", "Ranum"]
- ],
- "publisher": "Nature genetics",
- "issn": "1061-4036",
- "date": "2006-06-25",
- "abstract": "We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length human SCA8 mutation is transcribed using its endogenous promoter. (CTG)116 expansion, but not (CTG)11 control lines, develop a progressive neurological phenotype with in vivo imaging showing reduced cerebellar-cortical inhibition. 1C2-positive intranuclear inclusions in cerebellar Purkinje and brainstem neurons in SCA8 expansion mice and human SCA8 autopsy tissue result from translation of a polyglutamine protein, encoded on a previously unidentified antiparallel transcript (ataxin 8, ATXN8) spanning the repeat in the CAG direction. The neurological phenotype in SCA8 BAC expansion but not BAC control lines demonstrates the pathogenicity of the (CTG-CAG)n expansion. Moreover, the expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16804541"
-},
-{
- "id": "pmid:37315450",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/37315450",
- "title": "Plasma NfL as a prognostic biomarker for enriching HD-ISS stage 1 categorisation: a cross-sectional study.",
- "type": "article-journal",
- "doi": "10.1016/j.ebiom.2023.104646",
- "authors": [
- ["Georgia M", "Parkin"],
- ["Elizabeth A", "Thomas"],
- ["Jody", "Corey-Bloom"]
- ],
- "publisher": "EBioMedicine",
- "issn": "2352-3964",
- "date": "2023-06-12",
- "abstract": "The recently proposed Huntington's Disease Integrated Staging System (HD-ISS) categorises individuals with the Huntintin genetic mutation into disease progression cohorts based on quantitative neuroimaging, cognitive, and functional markers for research purposes. Unfortunately, many research studies do not collect quantitative neuroimaging data, and so the authors of the HD-ISS have subsequently provided approximated cohort thresholds based on disease and clinical data alone. However, these are rough proxies that aim to maximise stage separation, and should not be considered as 1:1 substitutes for the HD-ISS. Notably, no wet biomarker met the stringent criteria required to be considered a landmark for HD-ISS categorisation. We have previously shown that levels of plasma neurofilament light (NfL), a neuronal marker associated with axonal injury, are associated with predicted years to clinical motor diagnosis (CMD). Our objective in the current study was to determine whether HD-ISS categorisation, particularly for stages prior to CMD, could be improved with consideration of plasma NfL levels.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37315450"
-},
-{
- "id": "pmid:38835439",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38835439",
- "title": "Huntington disease update: new insights into the role of repeat instability in disease pathogenesis.",
- "type": "article-journal",
- "doi": "10.1515/medgen-2021-2101",
- "authors": [
- ["Larissa", "Arning"],
- ["Huu Phuc", "Nguyen"]
- ],
- "publisher": "Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V",
- "issn": "1863-5490",
- "date": "2022-01-12",
- "abstract": "The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene (",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38835439"
-},
-{
- "id": "pmid:34942093",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34942093",
- "title": "Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.",
- "type": "article-journal",
- "doi": "10.1016/j.ajhg.2021.12.002",
- "authors": [
- ["Douglas R", "Langbehn"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "1537-6605",
- "date": "2021-12-22",
- "abstract": "It is well known that the length of the CAG trinucleotide expansion of the huntingtin gene is associated with many aspects of Huntington disease progression. These include age of clinical onset and rate of initial progression of disease severity. The relationship between CAG length and survival in Huntington disease is less studied. To address this, we obtained the complete Registry HD database from the European Huntington Disease Network and reanalyzed the time from reported age of disease onset until death. We conducted semiparametric proportional hazards modeling of 8,422 participants who had experienced onset of clinical Huntington disease, either retrospectively or prospectively. Of these, 826 had a recorded age of death. To avoid biased model estimates, retrospective onset ages were represented by left truncation at study entry. After controlling for onset age, which tends to be younger in those with longer CAG repeat lengths, we found that CAG length had a substantial and highly significant influence upon survival time after disease onset. For a fixed age of onset, longer CAG expansions were predictive of shorter survival. This is consistent with other known relationships between CAG length and disease severity. We also show that older onset age predicts shorter lifespan after controlling for CAG length and that the influence of CAG on survival length is substantially greater in women. We demonstrate that apparent contradictions between these and previous analyses of the same data are primarily due to the question of whether to control for clinical onset age in the analysis of time until death.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34942093"
-},
-{
- "id": "pmid:34880419",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/34880419",
- "title": "Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1.",
- "type": "article-journal",
- "doi": "10.1038/s42003-021-02895-4",
- "authors": [
- ["Rachel J", "Harding"],
- ["Justin C", "Deme"],
- ["Johannes F", "Hevler"],
- ["Sem", "Tamara"],
- ["Alexander", "Lemak"],
- ["Jeffrey P", "Cantle"],
- ["Magdalena M", "Szewczyk"],
- ["Nola", "Begeja"],
- ["Siobhan", "Goss"],
- ["Xiaobing", "Zuo"],
- ["Peter", "Loppnau"],
- ["Alma", "Seitova"],
- ["Ashley", "Hutchinson"],
- ["Lixin", "Fan"],
- ["Ray", "Truant"],
- ["Matthieu", "Schapira"],
- ["Jeffrey B", "Carroll"],
- ["Albert J R", "Heck"],
- ["Susan M", "Lea"],
- ["Cheryl H", "Arrowsmith"]
- ],
- "publisher": "Communications biology",
- "issn": "2399-3642",
- "date": "2021-12-08",
- "abstract": "Huntington's disease results from expansion of a glutamine-coding CAG tract in the huntingtin (HTT) gene, producing an aberrantly functioning form of HTT. Both wildtype and disease-state HTT form a hetero-dimer with HAP40 of unknown functional relevance. We demonstrate in vivo and in cell models that HTT and HAP40 cellular abundance are coupled. Integrating data from a 2.6\u2009\u00c5 cryo-electron microscopy structure, cross-linking mass spectrometry, small-angle X-ray scattering, and modeling, we provide a near-atomic-level view of HTT, its molecular interaction surfaces and compacted domain architecture, orchestrated by HAP40. Native mass\u00a0spectrometry reveals a remarkably stable hetero-dimer, potentially explaining the cellular inter-dependence of HTT and HAP40. The exon 1 region of HTT is dynamic but shows greater conformational variety in the polyglutamine expanded mutant than wildtype exon 1. Our data provide a foundation for future functional and drug discovery studies targeting Huntington's disease and illuminate the structural consequences of HTT polyglutamine expansion.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34880419"
-},
-{
- "id": "pmid:28129107",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28129107",
- "title": "CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In\u00a0Vitro and In\u00a0Vivo.",
- "type": "article-journal",
- "doi": "10.1016/j.ymthe.2016.11.010",
- "authors": [
- ["Alex Mas", "Monteys"],
- ["Shauna A", "Ebanks"],
- ["Megan S", "Keiser"],
- ["Beverly L", "Davidson"]
- ],
- "publisher": "Molecular therapy : the journal of the American Society of Gene Therapy",
- "issn": "1525-0024",
- "date": "2017-01-04",
- "abstract": "Huntington disease (HD) is a fatal dominantly inherited neurodegenerative disorder caused by CAG repeat expansion (>36 repeats) within the first exon of the huntingtin gene. Although mutant huntingtin (mHTT) is ubiquitously expressed, the brain shows robust and early degeneration. Current RNA interference-based approaches for lowering mHTT expression have been efficacious in mouse models, but basal mutant protein levels are still detected. To fully mitigate expression from the mutant allele, we hypothesize that allele-specific genome editing can occur via prevalent promoter-resident SNPs in heterozygosity with the mutant allele. Here, we identified SNPs that either cause or destroy PAM motifs critical for CRISPR-selective editing of one allele versus the other in cells from HD patients and in a transgenic HD model harboring the human allele.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28129107"
-},
-{
- "id": "pmid:27868347",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27868347",
- "title": "Identification of extreme motor phenotypes in Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.b.32514",
- "authors": [
- ["Ulrike", "Braisch"],
- ["Birgit", "Hay"],
- ["Rainer", "Muche"],
- ["Dietrich", "Rothenbacher"],
- ["G Bernhard", "Landwehrmeyer"],
- ["Jeffrey D", "Long"],
- ["Michael", "Orth"]
- ],
- "publisher": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics",
- "issn": "1552-485X",
- "date": "2016-11-21",
- "abstract": "The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats \u226540, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. \u00a9 2016 Wiley Periodicals, Inc.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27868347"
-},
-{
- "id": "pmid:27639545",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/27639545",
- "title": "In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease.",
- "type": "article-journal",
- "doi": "10.1016/j.biopha.2016.09.007",
- "authors": [
- ["Jo\u00e3o", "Casaca-Carreira"],
- ["Lodewijk J A", "Toonen"],
- ["Melvin M", "Evers"],
- ["Ali", "Jahanshahi"],
- ["Willeke M C", "van-Roon-Mom"],
- ["Yasin", "Temel"]
- ],
- "publisher": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie",
- "issn": "1950-6007",
- "date": "2016-09-16",
- "abstract": "Huntington's disease (HD) is a progressive autosomal dominant disease, caused by a CAG repeat expansion in the HTT gene, resulting in an expanded polyglutamine stretch at the N-terminal of the huntingtin protein. An important event in HD pathogenesis appears to be the proteolysis of the mutant protein, which forms N-terminal huntingtin fragments. These fragments form insoluble aggregates and are found in nuclei and cytoplasm of affected neurons where they interfere with normal cell functioning. Important cleavage sites are encoded by exon 12 of HTT. A novel approach is Htt protein modification through exon skipping, which has recently been proven effective both in vitro and in vivo. Here we report proof-of-concept of AON 12.1 in vivo using the YAC128 mouse model of HD. Our results support and encourage future longitudinal studies exploring the therapeutic effects of sustained infusions in the YAC128 mouse model.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27639545"
-},
-{
- "id": "pmid:19439424",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19439424",
- "title": "Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.",
- "type": "article-journal",
- "doi": "10.1093/brain/awp107",
- "authors": [
- ["Eric", "Marsh"],
- ["Carl", "Fulp"],
- ["Ernest", "Gomez"],
- ["Ilya", "Nasrallah"],
- ["Jeremy", "Minarcik"],
- ["Jyotsna", "Sudi"],
- ["Susan L", "Christian"],
- ["Grazia", "Mancini"],
- ["Patricia", "Labosky"],
- ["William", "Dobyns"],
- ["Amy", "Brooks-Kayal"],
- ["Jeffrey A", "Golden"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2009-05-12",
- "abstract": "Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice revealed several morphological anomalies, resembling those observed in patients and an interneuron migration defect but perinatal lethality precluded analyses of later phenotypes. Interestingly, many of the neurological phenotypes observed in patients with various ARX mutations can be attributed, in part, to interneuron dysfunction. To directly test this possibility, mice carrying a floxed Arx allele were generated and crossed to Dlx5/6(CRE-IRES-GFP)(Dlx5/6(CIG)) mice, conditionally deleting Arx from ganglionic eminence derived neurons including cortical interneurons. We now report that Arx(-/y);Dlx5/6(CIG) (male) mice exhibit a variety of seizure types beginning in early-life, including seizures that behaviourally and electroencephalographically resembles infantile spasms, and show evolution through development. Thus, this represents a new genetic model of a malignant form of paediatric epilepsy, with some characteristics resembling infantile spasms, caused by mutations in a known infantile spasms gene. Unexpectedly, approximately half of the female mice carrying a single mutant Arx allele (Arx(-/+);Dlx5/6(CIG)) also developed seizures. We also found that a subset of human female carriers have seizures and neurocognitive deficits. In summary, we have identified a previously unrecognized patient population with neurological deficits attributed to ARX mutations that are recapitulated in our mouse model. Furthermore, we show that perturbation of interneuron subpopulations is an important mechanism underling the pathogenesis of developmental epilepsy in both hemizygous males and carrier females. Given the frequency of ARX mutations in patients with infantile spasms and related disorders, our data unveil a new model for further understanding the pathogenesis of these disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19439424"
-},
-{
- "id": "pmid:7778850",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7778850",
- "title": "Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.",
- "type": "article-journal",
- "doi": "10.1002/ana.410370610",
- "authors": [
- ["T", "Ikeuchi"],
- ["R", "Koide"],
- ["H", "Tanaka"],
- ["O", "Onodera"],
- ["S", "Igarashi"],
- ["H", "Takahashi"],
- ["R", "Kondo"],
- ["A", "Ishikawa"],
- ["A", "Tomoda"],
- ["T", "Miike"]
- ],
- "publisher": "Annals of neurology",
- "issn": "0364-5134",
- "date": "1995-06-01",
- "abstract": "Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 was recently identified as the pathogenic mutation for this disease. We investigated how the degree of expansion of the CAG repeat effects the clinical manifestations of dentatorubral-pallidoluysian atrophy. The size of the expanded alleles was well correlated with the age at onset (r = -0.696, p < 0.001). Patients with the progressive myoclonus epilepsy phenotype had larger expansions (62-79 repeats) and an earlier age at onset (onset before age 21). Furthermore, most of the patients with the progressive myoclonus epilepsy phenotype inherited their expanded alleles from their affected fathers. On the other hand, patients with the non-progressive myoclonus epilepsy phenotype showed smaller expansions (54-67 repeats) and a later age at onset (onset at or after age 21). Detailed analyses of clinical features demonstrated that ataxia, involuntary movement of either myoclonus or choreoathetosis, and intellectual decline are cardinal features of dentatorubral-pallidoluysian atrophy, with myoclonus and epilepsy being observed more frequently in patients with an earlier age at onset. Thus the wide variation in clinical manifestations of dentatorubral-pallidoluysian atrophy can now be clearly explained based on the degree of CAG repeat expansion, which strongly indicates that the expanded alleles are intimately involved in the neuronal degeneration in dentatofugal and pallidofugal systems.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7778850"
-},
-{
- "id": "pmid:30933216",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30933216",
- "title": "Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.",
- "type": "article-journal",
- "doi": "10.1001/jamaneurol.2019.0423",
- "authors": [
- ["Sarah L", "Gardiner"],
- ["Merel W", "Boogaard"],
- ["Stella", "Trompet"],
- ["Ren\u00e9e", "de Mutsert"],
- ["Frits R", "Rosendaal"],
- ["Jacobijn", "Gussekloo"],
- ["J Wouter", "Jukema"],
- ["Raymund A C", "Roos"],
- ["N Ahmad", "Aziz"]
- ],
- "publisher": "JAMA neurology",
- "issn": "2168-6157",
- "date": "2019-06-01",
- "abstract": "Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30933216"
-},
-{
- "id": "pmid:39096063",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39096063",
- "title": "Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression.",
- "type": "article-journal",
- "doi": "10.1002/ana.27032",
- "authors": [
- ["Teije H", "van Prooije"],
- ["Kirsten C J", "Kapteijns"],
- ["Jack J A", "van Asten"],
- ["Joanna", "IntHout"],
- ["Marcel M", "Verbeek"],
- ["Tom W J", "Scheenen"],
- ["Bart P", "van de Warrenburg"]
- ],
- "publisher": "Annals of neurology",
- "issn": "1531-8249",
- "date": "2024-08-03",
- "abstract": "Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant neurodegenerative disease. Objective surrogate markers sensitive to detect changes in disease severity are needed to reduce sample sizes in interventional trials and identification of predictors of faster disease progression would facilitate patient selection, enrichment, or stratification in such trials.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39096063"
-},
-{
- "id": "pmid:20502998",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/20502998",
- "title": "Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6.",
- "type": "article-journal",
- "doi": "10.1007/s12311-010-0183-8",
- "authors": [
- ["Ina", "Klinke"],
- ["Martina", "Minnerop"],
- ["Tanja", "Schmitz-H\u00fcbsch"],
- ["Marc", "Hendriks"],
- ["Thomas", "Klockgether"],
- ["Ullrich", "W\u00fcllner"],
- ["Christoph", "Helmstaedter"]
- ],
- "publisher": "Cerebellum (London, England)",
- "issn": "1473-4230",
- "date": "2010-09-01",
- "abstract": "A subtype-specific impairment of cognitive functions in spinocerebellar ataxia (SCA) patients is still debated. Thirty-two SCA patients (SCA1, 6; SC2, 3; SCA3, 15; SCA6, 8) and 14 matched healthy controls underwent neuropsychological evaluation testing attention, executive functions, episodic and semantic memory, and motor coordination. Severity of ataxia was assessed with the Scale for the Assessment and Rating of Ataxia (SARA), nonataxia symptoms with the Inventory of Non-Ataxia Symptoms. Depressive symptoms were evaluated with the Beck Depression Inventory. The SARA scores of our SCA patients (range 1-19.5) indicated an overall moderate ataxia, most pronounced in SCA6 and SCA1. Mean number of nonataxia symptoms (range 0-2.2) were most distinct in SCA1 and nearly absent in SCA6. SCA1 performed poorer than controls in 33% of all cognitive test parameters, followed by SCA2, SCA3, and SCA6 patients (17%). SCA 1-3 patients presented mainly attentional and executive dysfunctions while semantic and episodic memory functions were preserved. Attentional and executive functions were partly correlated with ataxia severity and fine motor coordination. All patients exhibited mildly depressed mood. Motor and dominant hand functions were more predictive for depressed mood than cognitive measures or overall ataxia. Besides motor impairments in all patients, SCA patients with extracerebellar pathology (SCA 1-3) were characterized by poor frontal attentional and executive dysfunction while mild cognitive impairments in predominantly cerebellar SCA6 patients appeared to reflect mainly cerebellar dysfunction. Regarding the everyday relevance of symptoms, (dominant) motor hand functioning emerged as a marker for the patient's mood.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20502998"
-},
-{
- "id": "pmid:19028133",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19028133",
- "title": "Quantitative evaluation of balance in patients with spinocerebellar ataxia type 1: a case control study.",
- "type": "article-journal",
- "doi": "10.1016/j.parkreldis.2008.10.003",
- "authors": [
- ["Ganesan", "Mohan"],
- ["Pramod Kumar", "Pal"],
- ["Kumar R", "Sendhil"],
- ["Kandavel", "Thennarasu"],
- ["B R", "Usha"]
- ],
- "publisher": "Parkinsonism & related disorders",
- "issn": "1873-5126",
- "date": "2008-11-22",
- "abstract": "Quantitative assessment of balance in spinocerebellar ataxia type 1 (SCA1).",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19028133"
-},
-{
- "id": "pmid:8619527",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/8619527",
- "title": "Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.",
- "type": "article-journal",
- "doi": "10.1002/ana.410390411",
- "authors": [
- ["A", "D\u00fcrr"],
- ["G", "Stevanin"],
- ["G", "Cancel"],
- ["C", "Duyckaerts"],
- ["N", "Abbas"],
- ["O", "Didierjean"],
- ["H", "Chneiweiss"],
- ["A", "Benomar"],
- ["O", "Lyon-Caen"],
- ["J", "Julien"],
- ["M", "Serdaru"],
- ["C", "Penet"],
- ["Y", "Agid"],
- ["A", "Brice"]
- ],
- "publisher": "Annals of neurology",
- "issn": "0364-5134",
- "date": "1996-04-01",
- "abstract": "Patients with spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) carry an expanded CAG repeat in the MJD1 gene. One hundred twenty families of different geographic origin with autosomal dominant cerebellar ataxia (ADCA) type I were tested. Thirty-four families (126 patients) carried an expanded CAG repeat. The expanded and the normal allele did not overlap and the repeat was unstable during transmission, with variation in the size of the CAG length ranging from -8 to +5 and a mean expansion of 0.86 repeats without differences according to the parental sex. There was a combined effect of the number of CAG repeats of the expanded and normal allele on the age at onset, which accounted for 70% of its variability. The length of the CAG repeat influenced the frequency of clinical signs associated with cerebellar ataxia, such as abnormal tendon reflexes or decreased vibration sense, whereas the interindividual variation of supranuclear ophthalmoplegia, sphincter and swallowing difficulties, and amyotrophy was mostly determined by different disease durations. We compared the clinical profile of 91 SCA3/MJD patients with 51 SCA1 and 32 SCA2 patients. There were striking differences between the SCA3/MJD and SCA2 but not with SCA1 groups of patients. Despite their clinical similarities, distinct neuropathological features were observed in 2 SCA3/MJD and 2 SCA1 patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8619527"
-},
-{
- "id": "pmid:9040742",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/9040742",
- "title": "Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations.",
- "type": "article-journal",
- "doi": "10.1212/wnl.48.2.482",
- "authors": [
- ["Y X", "Zhou"],
- ["Y", "Takiyama"],
- ["S", "Igarashi"],
- ["Y F", "Li"],
- ["B Y", "Zhou"],
- ["D C", "Gui"],
- ["K", "Endo"],
- ["H", "Tanaka"],
- ["Z H", "Chen"],
- ["L S", "Zhou"],
- ["M Z", "Fan"],
- ["B X", "Yang"],
- ["J", "Weissenbach"],
- ["G X", "Wang"],
- ["S", "Tsuji"]
- ],
- "publisher": "Neurology",
- "issn": "0028-3878",
- "date": "1997-02-01",
- "abstract": "Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a (CAG)n array in the MJD1 gene. We analyzed the sizes of the (CAG)n array using DNA samples from 61 members of four Chinese MJD families and 18 Chinese normal control subjects and confirmed that the (CAG)n array in 15 MJD chromosomes was expanded to 72-86 repeat units. There were no subjects with (CAG)n array sizes intermediate between those of normal and MJD affected groups. Meanwhile, we found a significant negative correlation between the age of onset of symptoms and (CAG)n array size. The largest (CAG)n array of 86 repeat units was in the youngest patient, whose age of onset was 5 years. The intergenerational increase in number of CAG repeat units was associated with the clinical phenomenon of anticipation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:9040742"
-},
-{
- "id": "pmid:22133674",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22133674",
- "title": "Toward understanding Machado-Joseph disease.",
- "type": "article-journal",
- "doi": "10.1016/j.pneurobio.2011.11.006",
- "authors": [
- ["Maria do Carmo", "Costa"],
- ["Henry L", "Paulson"]
- ],
- "publisher": "Progress in neurobiology",
- "issn": "1873-5118",
- "date": "2011-11-23",
- "abstract": "Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. In MJD, a CAG repeat expansion encodes an abnormally long polyglutamine (polyQ) tract in the disease protein, ATXN3. Here we review MJD, focusing primarily on the function and dysfunction of ATXN3 and on advances toward potential therapies. ATXN3 is a deubiquitinating enzyme (DUB) whose highly specialized properties suggest that it participates in ubiquitin-dependent proteostasis. By virtue of its interactions with VCP, various ubiquitin ligases and other ubiquitin-linked proteins, ATXN3 may help regulate the stability or activity of many proteins in diverse cellular pathways implicated in proteotoxic stress response, aging, and cell differentiation. Expansion of the polyQ tract in ATXN3 is thought to promote an altered conformation in the protein, leading to changes in interactions with native partners and to the formation of insoluble aggregates. The development of a wide range of cellular and animal models of MJD has been crucial to the emerging understanding of ATXN3 dysfunction upon polyQ expansion. Despite many advances, however, the principal molecular mechanisms by which mutant ATXN3 elicits neurotoxicity remain elusive. In a chronic degenerative disease like MJD, it is conceivable that mutant ATXN3 triggers multiple, interconnected pathogenic cascades that precipitate cellular dysfunction and eventual cell death. A better understanding of these complex molecular mechanisms will be important as scientists and clinicians begin to focus on developing effective therapies for this incurable, fatal disorder.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22133674"
-},
-{
- "id": "pmid:19811945",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/19811945",
- "title": "Caring for Machado-Joseph disease: current understanding and how to help patients.",
- "type": "article-journal",
- "doi": "10.1016/j.parkreldis.2009.08.012",
- "authors": [
- ["Anelyssa", "D'Abreu"],
- ["Marcondes C", "Fran\u00e7a"],
- ["Henry L", "Paulson"],
- ["Iscia", "Lopes-Cendes"]
- ],
- "publisher": "Parkinsonism & related disorders",
- "issn": "1873-5126",
- "date": "2009-10-06",
- "abstract": "Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding pathogenesis favor the view that mutated ataxin-3, with its polyglutamine expansion, is prone to adopt an abnormal conformation, engage in altered protein-protein interactions and aggregate. Expanded CAG repeat length correlates with the range and severity of the clinical manifestations and inversely correlates with age of disease onset. Though MJD/SCA3 is classically described as affecting the cerebellum, brainstem and basal ganglia, recent neuropathology and neuroimaging series demonstrate involvement of other areas such as the thalamus and cerebral cortex. Clinically, much emphasis has been placed in the description and recognition of the non-motor symptoms observed in these patients, such as pain, cramps, fatigue and depression. Currently, no disease modifying treatment exists for MJD/SCA3. Standard of care includes genetic counseling, exercise/physical therapy programs, and speech and swallow evaluation. Symptomatic treatment for clinical findings such as depression, sleep disorders, parkinsonism, dystonia, cramps, and pain is important to improve the quality of life for those with MJD/SCA3.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19811945"
-},
-{
- "id": "pmid:17953484",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17953484",
- "title": "Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila.",
- "type": "article-journal",
- "doi": "10.1371/journal.pgen.0030177",
- "authors": [
- ["Julide", "Bilen"],
- ["Nancy M", "Bonini"]
- ],
- "publisher": "PLoS genetics",
- "issn": "1553-7404",
- "date": "2007-10-01",
- "abstract": "Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene. The polyglutamine domain confers toxicity on the protein Ataxin-3 leading to neuronal dysfunction and loss. Although modifiers of polyglutamine toxicity have been identified, little is known concerning how the modifiers function mechanistically to affect toxicity. To reveal insight into spinocerebellar ataxia type-3, we performed a genetic screen in Drosophila with pathogenic Ataxin-3-induced neurodegeneration and identified 25 modifiers defining 18 genes. Despite a variety of predicted molecular activities, biological analysis indicated that the modifiers affected protein misfolding. Detailed mechanistic studies revealed that some modifiers affected protein accumulation in a manner dependent on the proteasome, whereas others affected autophagy. Select modifiers of Ataxin-3 also affected tau, revealing common pathways between degeneration due to distinct human neurotoxic proteins. These findings provide new insight into molecular pathways of polyQ toxicity, defining novel targets for promoting neuronal survival in human neurodegenerative disease.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17953484"
-},
-{
- "id": "pmid:7887422",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7887422",
- "title": "Clinical and molecular characterization of patients with distal 11q deletions.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["L A", "Penny"],
- ["M", "Dell'Aquila"],
- ["M C", "Jones"],
- ["J", "Bergoffen"],
- ["C", "Cunniff"],
- ["J P", "Fryns"],
- ["E", "Grace"],
- ["J M", "Graham"],
- ["B", "Kousseff"],
- ["T", "Mattina"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "1995-03-01",
- "abstract": "Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7887422"
-},
-{
- "id": "pmid:30488659",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30488659",
- "title": "A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.",
- "type": "article-journal",
- "doi": "10.1002/humu.23690",
- "authors": [
- ["Xiaomin", "Chen"],
- ["Jing", "Jin"],
- ["Qiongdan", "Wang"],
- ["Huangqi", "Xue"],
- ["Na", "Zhang"],
- ["Yaoqiang", "Du"],
- ["Tao", "Zhang"],
- ["Bing", "Zhang"],
- ["Jinyu", "Wu"],
- ["Zhenwei", "Liu"]
- ],
- "publisher": "Human mutation",
- "issn": "1098-1004",
- "date": "2018-12-08",
- "abstract": "Recent whole-exome sequencing (WES) studies have demonstrated the contribution of de novo mutations (DNMs) to epileptic encephalopathies (EEs). Here, we performed WES on four trios with West syndrome and identified three loss-of-function DNMs in both CSNK1E (c.885+1G>A) and STXBP1 (splicing, c.1111-2A>G; nonsense, p.(Y519X)). The splicing mutation in CSNK1E creates insertion of 116 new amino acids at position 246 followed by a premature stop codon. Both CSNK1E and STXBP1 showed a closer coexpression relationship with epilepsy candidate genes beyond that expected by chance. In addition, genes coexpressed with CSNK1E were enriched in early prenatal stages across multiple brain regions. We also found that 60 CSNK1E-interacting genes share an association with multiple neuropsychiatric disorders, and these genes formed a significant interconnected interaction network with roles in the midbrain development. Our study supported the potential role of CSNK1E variants in EE susceptibility and expanded the phenotypic spectrum associated with CSNK1E variation.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30488659"
-},
-{
- "id": "pmid:32937144",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/32937144",
- "title": "A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.",
- "type": "article-journal",
- "doi": "10.1016/j.ajhg.2020.08.019",
- "authors": [
- ["Paras", "Garg"],
- ["Bharati", "Jadhav"],
- ["Oscar L", "Rodriguez"],
- ["Nihir", "Patel"],
- ["Alejandro", "Martin-Trujillo"],
- ["Miten", "Jain"],
- ["Sofie", "Metsu"],
- ["Hugh", "Olsen"],
- ["Benedict", "Paten"],
- ["Beate", "Ritz"],
- ["R Frank", "Kooy"],
- ["Jozef", "Gecz"],
- ["Andrew J", "Sharp"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "1537-6605",
- "date": "2020-09-15",
- "abstract": "There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little information exists on the prevalence and distribution of rare epigenetic variation in the human population. In order to address this, we performed a survey of methylation profiles from 23,116 individuals using the Illumina 450k array. Using a robust outlier approach, we identified 4,452 unique autosomal epivariations, including potentially inactivating promoter methylation events at 384 genes linked to human disease. For example, we observed promoter hypermethylation of BRCA1 and LDLR at population frequencies of \u223c1 in 3,000 and \u223c1 in 6,000, respectively, suggesting that epivariations may underlie a fraction of human disease which would be missed by purely sequence-based approaches. Using expression data, we confirmed that many epivariations are associated with outlier gene expression. Analysis of variation data and monozygous twin pairs suggests that approximately two-thirds of epivariations segregate in the population secondary to underlying sequence mutations, while one-third are likely sporadic events that occur post-zygotically. We identified 25 loci where rare hypermethylation coincided with the presence of an unstable CGG tandem repeat, validated the presence of CGG expansions at several loci, and identified the putative molecular defect underlying most of the known folate-sensitive fragile sites in the genome. Our study provides a catalog of rare epigenetic changes in the human genome, gives insight into the underlying origins and consequences of epivariations, and identifies many hypermethylated CGG repeat expansions.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32937144"
-},
-{
- "id": "pmid:29939198",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29939198",
- "title": "Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.",
- "type": "article-journal",
- "doi": "10.1093/brain/awy137",
- "authors": [
- ["Marc", "Corral-Juan"],
- ["Carmen", "Serrano-Munuera"],
- ["Alberto", "R\u00e1bano"],
- ["Daniel", "Cota-Gonz\u00e1lez"],
- ["Anna", "Segarra-Roca"],
- ["Lourdes", "Ispierto"],
- ["Antonio Tom\u00e1s", "Cano-Orgaz"],
- ["Astrid D", "Adarmes"],
- ["Carlota", "M\u00e9ndez-Del-Barrio"],
- ["Silvia", "Jes\u00fas"],
- ["Pablo", "Mir"],
- ["Victor", "Volpini"],
- ["Ramiro", "Alvarez-Ramo"],
- ["Ivelisse", "S\u00e1nchez"],
- ["Antoni", "Matilla-Due\u00f1as"]
- ],
- "publisher": "Brain : a journal of neurology",
- "issn": "1460-2156",
- "date": "2018-07-01",
- "abstract": "The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron signs, or peripheral neuropathy. Over 41 different SCA subtypes have been described evidencing the high clinical and genetic heterogeneity. We previously reported a novel spinocerebellar ataxia type subtype, SCA37, linked to an 11-Mb genomic region on 1p32, in a large Spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements. Here we demonstrate the segregation of an unstable intronic ATTTC pentanucleotide repeat mutation within the 1p32 5' non-coding regulatory region of the gene encoding the reelin adaptor protein DAB1, implicated in neuronal migration, as the causative genetic defect of the disease in four Spanish SCA37 families. We describe the clinical-genetic correlation and the first SCA37 neuropathological findings caused by dysregulation of cerebellar DAB1 expression. Post-mortem neuropathology of two patients with SCA37 revealed severe loss of Purkinje cells with abundant astrogliosis, empty baskets, occasional axonal spheroids, and hypertrophic fibres by phosphorylated neurofilament immunostaining in the cerebellar cortex. The remaining cerebellar Purkinje neurons showed loss of calbindin immunoreactivity, aberrant dendrite arborization, nuclear pathology including lobulation, irregularity, and hyperchromatism, and multiple ubiquitinated perisomatic granules immunostained for DAB1. A subpopulation of Purkinje cells was found ectopically mispositioned within the cerebellar cortex. No significant neuropathological alterations were identified in other brain regions in agreement with a pure cerebellar syndrome. Importantly, we found that the ATTTC repeat mutation dysregulated DAB1 expression and induced an RNA switch resulting in the upregulation of reelin-DAB1 and PI3K/AKT signalling in the SCA37 cerebellum. This study reveals the unstable ATTTC repeat mutation within the DAB1 gene as the underlying genetic cause and provides evidence of reelin-DAB1 signalling dysregulation in the spinocerebellar ataxia type 37.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29939198"
-},
-{
- "id": "pmid:40140942",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/40140942",
- "title": "STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.",
- "type": "article-journal",
- "doi": "10.1186/s13073-025-01454-4",
- "authors": [
- ["Laurel", "Hiatt"],
- ["Ben", "Weisburd"],
- ["Egor", "Dolzhenko"],
- ["Vincent", "Rubinetti"],
- ["Akshay K", "Avvaru"],
- ["Grace E", "VanNoy"],
- ["Nehir Edibe", "Kurtas"],
- ["Heidi L", "Rehm"],
- ["Aaron R", "Quinlan"],
- ["Harriet", "Dashnow"]
- ],
- "publisher": "Genome medicine",
- "issn": "1756-994X",
- "date": "2025-03-26",
- "abstract": "Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1-6\u00a0bp motifs and variable number tandem repeats (VNTRs) of 7\u2009+\u2009bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and enigmatic. It remains comparatively challenging to interpret the clinical significance of TR variants, particularly relative to single nucleotide variants. We present STRchive ( http://strchive.org/ ), a dynamic resource consolidating information on TR disease loci from the research literature, up-to-date clinical resources, and large-scale genomic databases, streamlining TR variant interpretation at disease-associated loci.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40140942"
-},
-{
- "id": "pmid:7847063",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/7847063",
- "title": "Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions.",
- "type": "article-journal",
- "doi": "10.1111/j.1600-0404.1994.tb02708.x",
- "authors": [
- ["B", "Censori"],
- ["L", "Provinciali"],
- ["M", "Danni"],
- ["L", "Chiaramoni"],
- ["M", "Maricotti"],
- ["N", "Foschi"],
- ["M", "Del Pesce"],
- ["U", "Salvolini"]
- ],
- "publisher": "Acta neurologica Scandinavica",
- "issn": "0001-6314",
- "date": "1994-09-01",
- "abstract": "A prospective, case-control study was carried out on 25 patients with myotonic dystrophy (MyD) and 25 healthy subjects using brain magnetic resonance imaging (MRI). The frequency and severity of white matter hyperintense lesions (WMHL) and brain atrophy in MyD patients were compared with their clinical features and cognitive impairment using an extensive neuropsychological battery. Eighty-four per cent of MyD patients showed WMHL, compared with 16% of controls (p < 0.0001). These lesions involved all cerebral lobes, without hemispheric prevalence. Twenty-eight per cent of MyD patients also showed particular WMHL at their temporal poles. Myotonic patients had significantly more cortical atrophy than controls. No relationship between atrophy and WMHL was found on the MRI scans. The extent of brain abnormalities (WMHL or atrophy) was not correlated to age, disease duration, physical disability or severity of neuropsychological impairment. Central nervous system abnormalities revealed by MRI appear to be an almost constant feature of MyD, but they are not found to be related to clinical or cognitive parameters. Their nature is still unclear: some of them, located at the temporal poles, seem to be characteristic of the disease, while others small, diffuse WMHLs, similar to the age related alterations revealed by MRI occurring during young and adult age in MyD patients.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7847063"
-},
-{
- "id": "pmid:28334780",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/28334780",
- "title": "EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddx078",
- "authors": [
- ["Emily E", "Miller"],
- ["Gerson S", "Kobayashi"],
- ["Camila M", "Musso"],
- ["Miranda", "Allen"],
- ["Felipe A A", "Ishiy"],
- ["Luiz Carlos", "de Caires"],
- ["Ernesto", "Goulart"],
- ["Karina", "Griesi-Oliveira"],
- ["Roseli M", "Zechi-Ceide"],
- ["Antonio", "Richieri-Costa"],
- ["Debora R", "Bertola"],
- ["Maria Rita", "Passos-Bueno"],
- ["Debra L", "Silver"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2017-06-15",
- "abstract": "Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities. RCPS iNCCs have decreased migratory capacity, a distinct phenotype relative to other craniofacial disorders. Eif4a3 haploinsufficient embryos presented altered mandibular process fusion and micrognathia, thus recapitulating the most penetrant phenotypes of the syndrome. These defects were evident in either ubiquitous or NCC-specific Eif4a3 haploinsufficient animals, demonstrating an autonomous requirement of Eif4a3 in NCCs. Notably, RCPS NCC-derived mesenchymal stem-like cells (nMSCs) showed premature bone differentiation, a phenotype paralleled by premature clavicle ossification in Eif4a3 haploinsufficient embryos. Likewise, nMSCs presented compromised in vitro chondrogenesis, and Meckel's cartilage was underdeveloped in vivo. These findings indicate novel and essential requirements of EIF4A3 for NCC migration and osteochondrogenic differentiation during craniofacial development. Altogether, complementary use of iPSCs and mouse models pinpoint unique cellular mechanisms by which EIF4A3 mutation causes RCPS, and provide a paradigm to study craniofacial disorders.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28334780"
-},
-{
- "id": "pmid:12489043",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12489043",
- "title": "A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].",
- "type": "article-journal",
- "doi": "10.1086/345488",
- "authors": [
- ["John C", "van Swieten"],
- ["Esther", "Brusse"],
- ["Bianca M", "de Graaf"],
- ["Elmar", "Krieger"],
- ["Raoul", "van de Graaf"],
- ["Inge", "de Koning"],
- ["Anneke", "Maat-Kievit"],
- ["Peter", "Leegwater"],
- ["Dennis", "Dooijes"],
- ["Ben A", "Oostra"],
- ["Peter", "Heutink"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "2002-12-13",
- "abstract": "Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype. In several other SCA types, no genetic defect has yet been identified. We describe a large, three-generation family with early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia, not associated with any of the known SCA loci, and a mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice. As indicated by protein modeling, the amino acid change from phenylalanine to serine at position 145 is predicted to reduce the stability of the protein. The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12489043"
-},
-{
- "id": "pmid:12123606",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12123606",
- "title": "Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14.",
- "type": "article-journal",
- "doi": "10.1016/s0896-6273(02)00744-4",
- "authors": [
- ["Qing", "Wang"],
- ["Mark E", "Bardgett"],
- ["Michael", "Wong"],
- ["David F", "Wozniak"],
- ["Junyang", "Lou"],
- ["Benjamin D", "McNeil"],
- ["Chen", "Chen"],
- ["Anthony", "Nardi"],
- ["David C", "Reid"],
- ["Kelvin", "Yamada"],
- ["David M", "Ornitz"]
- ],
- "publisher": "Neuron",
- "issn": "0896-6273",
- "date": "2002-07-03",
- "abstract": "Fibroblast growth factor 14 (FGF14) belongs to a distinct subclass of FGFs that is expressed in the developing and adult CNS. We disrupted the Fgf14 gene and introduced an Fgf14(N-beta-Gal) allele that abolished Fgf14 expression and generated a fusion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase. Fgf14-deficient mice were viable, fertile, and anatomically normal, but developed ataxia and a paroxysmal hyperkinetic movement disorder. Neuropharmacological studies showed that Fgf14-deficient mice have reduced responses to dopamine agonists. The paroxysmal hyperkinetic movement disorder phenocopies a form of dystonia, a disease often associated with dysfunction of the putamen. Strikingly, the FGF14N-beta-gal chimeric protein was efficiently transported into neuronal processes in the basal ganglia and cerebellum. Together, these studies identify a novel function for FGF14 in neuronal signaling and implicate FGF14 in axonal trafficking and synaptosomal function.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12123606"
-},
-{
- "id": "pmid:17978045",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/17978045",
- "title": "The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability.",
- "type": "article-journal",
- "doi": "10.1523/jneurosci.2282-07.2007",
- "authors": [
- ["Fernanda", "Laezza"],
- ["Benjamin R", "Gerber"],
- ["Jun-Yang", "Lou"],
- ["Marie A", "Kozel"],
- ["Hali", "Hartman"],
- ["Ann Marie", "Craig"],
- ["David M", "Ornitz"],
- ["Jeanne M", "Nerbonne"]
- ],
- "publisher": "The Journal of neuroscience : the official journal of the Society for Neuroscience",
- "issn": "1529-2401",
- "date": "2007-10-31",
- "abstract": "Fibroblast growth factor 14 (FGF14) belongs to the intracellular FGF homologous factor subfamily of FGF proteins (iFGFs) that are not secreted and do not activate tyrosine kinase receptors. The iFGFs, however, have been shown to interact with the pore-forming (alpha) subunits of voltage-gated Na+ (Na(v)) channels. The neurological phenotypes seen in Fgf14-/- mice and the identification of an FGF14 missense mutation (FGF14(F145S)) in a Dutch family presenting with cognitive impairment and spinocerebellar ataxia suggest links between FGF14 and neuronal functioning. Here, we demonstrate that the expression of FGF14(F145S) reduces Na(v) alpha subunit expression at the axon initial segment, attenuates Na(v) channel currents, and reduces the excitability of hippocampal neurons. In addition, and in contrast with wild-type FGF14, FGF14(F145S) does not interact directly with Na(v) channel alpha subunits. Rather, FGF14(F145S) associates with wild-type FGF14 and disrupts the interaction between wild-type FGF14 and Na(v) alpha subunits, suggesting that the mutant FGF14(F145S) protein acts as a dominant negative, interfering with the interaction between wild-type FGF14 and Na(v) channel alpha subunits and altering neuronal excitability.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17978045"
-},
-{
- "id": "pmid:2031184",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2031184",
- "title": "Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.",
- "type": "article-journal",
- "doi": "10.1126/science.252.5009.1097",
- "authors": [
- ["I", "Oberl\u00e9"],
- ["F", "Rousseau"],
- ["D", "Heitz"],
- ["C", "Kretz"],
- ["D", "Devys"],
- ["A", "Hanauer"],
- ["J", "Bou\u00e9"],
- ["M F", "Bertheas"],
- ["J L", "Mandel"]
- ],
- "publisher": "Science (New York, N.Y.)",
- "issn": "0036-8075",
- "date": "1991-05-24",
- "abstract": "The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich fragment. Normal transmitting males had a 150- to 400-base pair insertion that was inherited by their daughters either unchanged, or with small differences in size. Fragile X-positive individuals in the next generation had much larger fragments that differed among siblings and showed a generally heterogeneous pattern indicating somatic mutation. The mutated allele appeared unmethylated in normal transmitting males, methylated only on the inactive X chromosome in their daughters, and totally methylated in most fragile X males. However, some males had a mosaic pattern. Expression of the fragile X syndrome thus appears to result from a two-step mutation as well as a highly localized methylation. Carriers of the fragile X mutation can easily be detected regardless of sex or phenotypic expression, and rare apparent false negatives may result from genetic heterogeneity or misdiagnosis.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2031184"
-},
-{
- "id": "pmid:35148024",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/35148024",
- "title": "The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.a.62594",
- "authors": [
- ["Lu", "Meng"],
- ["Walter E", "Kaufmann"],
- ["Richard E", "Frye"],
- ["Katherine", "Ong"],
- ["Jennifer W", "Kaminski"],
- ["Milen", "Velinov"],
- ["Elizabeth", "Berry-Kravis"]
- ],
- "publisher": "American journal of medical genetics. Part A",
- "issn": "1552-4833",
- "date": "2021-12-08",
- "abstract": "Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numbers of CGG repeats between the two alleles, such that in addition to a full mutation allele there is an allele in the normal or premutation range of CGG repeats, while methylation mosaicism indicates whether a full-mutation allele is fully or partially methylated. The present study explored the association between mosaicism type and cognitive and behavioral functioning in a large sample of males 3\u2009years and older (n\u00a0=\u00a0487) with FXS, participating in the Fragile X Online Registry with Accessible Research Database. Participants with methylation mosaicism were less severely cognitively affected as indicated by a less severe intellectual disability rating, higher intelligence quotient and adaptive behavior score, and lower social impairment score. In contrast, the presence of size mosaicism was not significantly associated with better cognitive and behavioral outcomes than full mutation. Our findings suggest that methylation mosaicism is associated with better cognitive functioning and adaptive behavior and less social impairment. Further research could assess to what extent these cognitive and behavioral differences depend on molecular diagnostic methods and the impact of mosaicism on prognosis of individuals with FXS.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35148024"
-},
-{
- "id": "pmid:6712153",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/6712153",
- "title": "The marker (X) syndrome: a cytogenetic and genetic analysis.",
- "type": "article-journal",
- "doi": "10.1111/j.1469-1809.1984.tb00830.x",
- "authors": [
- ["S L", "Sherman"],
- ["N E", "Morton"],
- ["P A", "Jacobs"],
- ["G", "Turner"]
- ],
- "publisher": "Annals of human genetics",
- "issn": "0003-4800",
- "date": "1984-01-01",
- "abstract": "The results of a cytogenetic and segregation analysis of 110 pedigrees of the mar (X) syndrome are reported. The cytogenetic study indicated an inverse relationship between IQ and the mar(X) frequency in females but not in males. A small but significant effect of age on mar(X) frequency was observed in both males and females, but in females it was restricted to those of normal intelligence, retarded females showing no significant effect. Classical segregation analysis was performed using the program SEGRAN, analysing sexes separately. A 20% deficit of affected males was observed, the most plausible explanation for the majority of these cases being incomplete penetrance. Since this was an unexpected result, the data were scrutinized for possible biases; however, correction of these had little effect on the estimate. The penetrance of mental impairment in carrier females was estimated to be 30% and of mental impairment and/or mar(X) expression to be 56%. Thus 44% of carriers cannot be detected with our definition of affection. No evidence for sporadic cases among affected males was found. Complex segregation analysis was performed using the sex-linked version of POINTER, analysing sexes together. This was done in order to test the results from classical segregation analysis, to test for family resemblance and to estimate mutation rates. It was confirmed that there was a 20% deficit of affected males, that penetrance of mental impairment in females was approximately 30% and that there was no evidence for sporadic males. Thus all males with the gene appear to have received it from their carrier mothers and all mutations must occur in sperm. The mutation rate in sperm was estimated to be as high as 7.2 X 10(-4), implying that over one-half of random carrier females are fresh mutants. Our results have important implications for genetic counseling as they imply that all mothers of isolated affected males are carriers, that normal brothers of affected males have a 17% chance of carrying the gene and transmitting it to all their daughters, and that normal sisters of affected males have, at most, a 30% chance of being carriers. Since there are biases in the data due to the testing of particular individuals, these probabilities must be considered approximations until they are independently confirmed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:6712153"
-},
-{
- "id": "pmid:3838733",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/3838733",
- "title": "Further segregation analysis of the fragile X syndrome with special reference to transmitting males.",
- "type": "article-journal",
- "doi": "10.1007/bf00291644",
- "authors": [
- ["S L", "Sherman"],
- ["P A", "Jacobs"],
- ["N E", "Morton"],
- ["U", "Froster-Iskenius"],
- ["P N", "Howard-Peebles"],
- ["K B", "Nielsen"],
- ["M W", "Partington"],
- ["G R", "Sutherland"],
- ["G", "Turner"],
- ["M", "Watson"]
- ],
- "publisher": "Human genetics",
- "issn": "0340-6717",
- "date": "1985-01-01",
- "abstract": "A new series of 96 pedigrees with the fra(X) syndrome was analysed using complex segregation analysis with pointers, defining affection as any degree of mental impairment. These families were found to exhibit the same segregation pattern as the first series of 110 pedigrees (Sherman et al. 1984). The best estimate for penetrance of mental impairment in males was 79% and in females was 35% for the combined data. Again, there was little evidence for sporadic cases among affected males. Many more intellectually normal transmitting males have been observed since the existence of such males and the concomitant need to investigate the paternal side of pedigrees was recognized. On further investigation of all 206 pedigrees from the old and new data sets, the sibships of nonexpressing males appeared to be different from those of expressing males. Our analysis, using mental impairment as the phenotype, suggested that obligate carrier mothers and daughters of intellectually normal transmitting males are rarely, if ever, mentally impaired and that the sibs of transmitting males are much less likely to be retarded than the sibs of mentally impaired males. Though mothers and daughters of transmitting males are similar in phenotype, the expression of the gene in their offspring appears to be different: the penetrance of mental impairment is higher in offspring of intellectually normal daughters of transmitting males than in offspring of intellectually normal mothers of transmitting males. The implications of these observations for genetic counseling and for genetic models of the fra(X) syndrome are discussed.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:3838733"
-},
-{
- "id": "pmid:1673303",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/1673303",
- "title": "DNA linkage analysis of 26 families with fragile X syndrome.",
- "type": "article-journal",
- "doi": "10.1002/ajmg.1320380229",
- "authors": [
- ["N J", "Carpenter"]
- ],
- "publisher": "American journal of medical genetics",
- "issn": "0148-7299",
- "date": "1991-01-01",
- "abstract": "Linkage data using the markers F9 (factor IX), DXS105 (cX55.7), DXS98 (4D-8), DXS52 (St14), DXS15 (DX13), and DXS134 (cpX67) are presented from 26 pedigrees segregating with fragile X (fra[X]) syndrome. Cytogenetic and DNA data were combined in 2-point linkage analysis for the estimation of lod scores and carrier probabilities in potential carriers. Recombination fractions (theta) corresponding to the maximum lod scores (Z) were obtained for F9 (Z = 2.78, theta = 0.15), DXS105 (Z = 1.72, theta = 14), DXS98 (Z = 3.74, theta = 0.00), DXS52 (Z = 3.53, theta = 0.17), DXS15 (Z = 4.03, theta = 0.11), and DXS134 (Z = 2.12, theta = 0.16) and for the fragile X locus (FRAXA). Recombination fractions between marker loci in the families are also presented. Discordance between the results of cytogenetic and DNA analyses in 2 potential carrier females was investigated by reexamination of the fragile site expression and was concluded to be due to the expression of the common fragile site at Xq27.2.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:1673303"
-},
-{
- "id": "pmid:2903666",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/2903666",
- "title": "Linkage studies in a large fragile X family.",
- "type": "article-journal",
- "doi": "",
- "authors": [
- ["M", "Patterson"],
- ["M", "Bell"],
- ["W", "Kress"],
- ["K E", "Davies"],
- ["U", "Froster-Iskenius"]
- ],
- "publisher": "American journal of human genetics",
- "issn": "0002-9297",
- "date": "1988-11-01",
- "abstract": "We have analyzed the segregation of five loci in the region Xq27/28 in a large family affected by the fragile X syndrome. The marker DXS115 (767) is shown to be polymorphic with the enzyme PstI, as well as with BstXI. This marker will be useful in the analysis of both fragile X and haemophilia A families. The data presented here are consistent with the following order of loci: Xcen-F9-DXS105(cX55.7,55E)-DXS98(4D-8)- FRAXA-DXS52(St14)-DXS115(767)-qter.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:2903666"
-},
-{
- "id": "pmid:22483044",
- "manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/22483044",
- "title": "The pathophysiology of fragile X (and what it teaches us about synapses).",
- "type": "article-journal",
- "doi": "10.1146/annurev-neuro-060909-153138",
- "authors": [
- ["Asha L", "Bhakar"],
- ["G\u00fcl", "D\u00f6len"],
- ["Mark F", "Bear"]
- ],
- "publisher": "Annual review of neuroscience",
- "issn": "1545-4126",
- "date": "2012-04-05",
- "abstract": "Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.",
- "language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22483044"
-},
-{
- "id": "pmid:30642066",
+ "id": "pmid:30642066",
"manubot_success": true,
"link": "https://www.ncbi.nlm.nih.gov/pubmed/30642066",
"title": "Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings.",
@@ -165273,433 +164240,993 @@
"date": "2024-08-05",
"abstract": "The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly undefined disease entities, and the overlapping features between the 2 categories. This study aimed to characterize a large cohort of patients affected by MFM and DM and identify the most important diagnostic and prognostic aspects of these diseases.",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39102614"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39102614"
+},
+{
+ "id": "pmid:29887139",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29887139",
+ "title": "Genetic Creutzfeldt-Jakob disease.",
+ "type": "article-journal",
+ "doi": "10.1016/b978-0-444-63945-5.00013-1",
+ "authors": [
+ ["Anna", "Ladogana"],
+ ["Gabor G", "Kovacs"]
+ ],
+ "publisher": "Handbook of clinical neurology",
+ "issn": "0072-9752",
+ "date": "2018-01-01",
+ "abstract": "Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10-15% of all CJD patients, who often have a family history of autosomal-dominant pattern of inheritance and variable penetrance. However, the use of genetic tests implemented by surveillance networks all over the world increasingly identifies unexpectedly PRNP mutations in persons apparently presenting with a sporadic form of CJD. A high phenotypic variability was reported in genetic prion diseases, which partly overlap with the features of sporadic CJD. Here we review recent advances on the epidemiologic, clinical, and neuropathologic features of cases that phenotypically resemble CJD linked to point and insert mutations of the PRNP gene. Multidisciplinary studies are still required to understand the phenotypic spectrum, penetrance, and significance of PRNP mutations.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29887139"
+},
+{
+ "id": "pmid:25852448",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/25852448",
+ "title": "A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.",
+ "type": "article-journal",
+ "doi": "10.1159/000370337",
+ "authors": [
+ ["Masaki", "Mastushita"],
+ ["Hiroshi", "Kitoh"],
+ ["Asli", "Subasioglu"],
+ ["Fatma", "Kurt Colak"],
+ ["Munis", "Dundar"],
+ ["Kenichi", "Mishima"],
+ ["Yoshihiro", "Nishida"],
+ ["Naoki", "Ishiguro"]
+ ],
+ "publisher": "Molecular syndromology",
+ "issn": "1661-8769",
+ "date": "2015-01-29",
+ "abstract": "Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt-related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain (Q/A domain, 23Q/17A), a DNA-binding Runt domain and a proline/serine/threonine-rich domain. We report on a familial case of CCD with a novel mutation within the Q/A domain of the RUNX2 gene, which is an insertion in exon 1 (p.Q71_E72insQQQQ) representing the Q-repeat variant (27Q/17A). Functional analysis of the 27Q variant revealed abolished transactivation capacity of the mutated RUNX2 protein. This is the first case report that demonstrated a glutamine repeat variant of the RUNX2 gene causes CCD.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25852448"
+},
+{
+ "id": "pmid:23505376",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/23505376",
+ "title": "Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.",
+ "type": "article-journal",
+ "doi": "10.1371/journal.pgen.1003290",
+ "authors": [
+ ["James", "Hughes"],
+ ["Sandra", "Piltz"],
+ ["Nicholas", "Rogers"],
+ ["Dale", "McAninch"],
+ ["Lynn", "Rowley"],
+ ["Paul", "Thomas"]
+ ],
+ "publisher": "PLoS genetics",
+ "issn": "1553-7404",
+ "date": "2013-03-07",
+ "abstract": "Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function. Misfolded proteins form aggregates when expressed in vitro; however, it is less clear whether aggregation is of relevance to these diseases in vivo. To investigate this issue, we used targeted mutagenesis of embryonic stem (ES) cells to generate mice with a polyalanine expansion mutation in Sox3 (Sox3-26ala) that is associated with X-linked Hypopituitarism (XH) in humans. By investigating both ES cells and chimeric mice, we show that endogenous polyalanine expanded SOX3 does not form protein aggregates in vivo but rather is present at dramatically reduced levels within the nucleus of mutant cells. Importantly, the residual mutant protein of chimeric embryos is able to rescue a block in gastrulation but is not sufficient for normal development of the hypothalamus, a region that is functionally compromised in Sox3 null embryos and individuals with XH. Together, these data provide the first definitive example of a disease-relevant PA mutant protein that is both nuclear and functional, thereby manifesting as a partial loss-of-function allele.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23505376"
+},
+{
+ "id": "pmid:30973967",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/30973967",
+ "title": "A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.",
+ "type": "article-journal",
+ "doi": "10.1002/ana.25488",
+ "authors": [
+ ["Ana", "Westenberger"],
+ ["Charles Jourdan", "Reyes"],
+ ["Gerard", "Saranza"],
+ ["Valerija", "Dobricic"],
+ ["Henrike", "Hanssen"],
+ ["Aloysius", "Domingo"],
+ ["Bj\u00f6rn-Hergen", "Laabs"],
+ ["Susen", "Schaake"],
+ ["Jelena", "Pozojevic"],
+ ["Aleksandar", "Rakovic"],
+ ["Karen", "Gr\u00fctz"],
+ ["Kimberly", "Begemann"],
+ ["Uwe", "Walter"],
+ ["Dirk", "Dressler"],
+ ["Peter", "Bauer"],
+ ["Arndt", "Rolfs"],
+ ["Alexander", "M\u00fcnchau"],
+ ["Frank J", "Kaiser"],
+ ["Laurie J", "Ozelius"],
+ ["Roland Dominic", "Jamora"],
+ ["Raymond L", "Rosales"],
+ ["Cid Czarina E", "Diesta"],
+ ["Katja", "Lohmann"],
+ ["Inke R", "K\u00f6nig"],
+ ["Norbert", "Br\u00fcggemann"],
+ ["Christine", "Klein"]
+ ],
+ "publisher": "Annals of neurology",
+ "issn": "1531-8249",
+ "date": "2019-05-03",
+ "abstract": "X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30973967"
+},
+{
+ "id": "pmid:29474918",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29474918",
+ "title": "Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.",
+ "type": "article-journal",
+ "doi": "10.1016/j.cell.2018.02.011",
+ "authors": [
+ ["Tatsiana", "Aneichyk"],
+ ["William T", "Hendriks"],
+ ["Rachita", "Yadav"],
+ ["David", "Shin"],
+ ["Dadi", "Gao"],
+ ["Christine A", "Vaine"],
+ ["Ryan L", "Collins"],
+ ["Aloysius", "Domingo"],
+ ["Benjamin", "Currall"],
+ ["Alexei", "Stortchevoi"],
+ ["Trisha", "Multhaupt-Buell"],
+ ["Ellen B", "Penney"],
+ ["Lilian", "Cruz"],
+ ["Jyotsna", "Dhakal"],
+ ["Harrison", "Brand"],
+ ["Carrie", "Hanscom"],
+ ["Caroline", "Antolik"],
+ ["Marisela", "Dy"],
+ ["Ashok", "Ragavendran"],
+ ["Jason", "Underwood"],
+ ["Stuart", "Cantsilieris"],
+ ["Katherine M", "Munson"],
+ ["Evan E", "Eichler"],
+ ["Patrick", "Acu\u00f1a"],
+ ["Criscely", "Go"],
+ ["R Dominic G", "Jamora"],
+ ["Raymond L", "Rosales"],
+ ["Deanna M", "Church"],
+ ["Stephen R", "Williams"],
+ ["Sarah", "Garcia"],
+ ["Christine", "Klein"],
+ ["Ulrich", "M\u00fcller"],
+ ["Kirk C", "Wilhelmsen"],
+ ["H T Marc", "Timmers"],
+ ["Yechiam", "Sapir"],
+ ["Brian J", "Wainger"],
+ ["Daniel", "Henderson"],
+ ["Naoto", "Ito"],
+ ["Neil", "Weisenfeld"],
+ ["David", "Jaffe"],
+ ["Nutan", "Sharma"],
+ ["Xandra O", "Breakefield"],
+ ["Laurie J", "Ozelius"],
+ ["D Cristopher", "Bragg"],
+ ["Michael E", "Talkowski"]
+ ],
+ "publisher": "Cell",
+ "issn": "1097-4172",
+ "date": "2018-02-22",
+ "abstract": "X-linked Dystonia-Parkinsonism (XDP) is a Mendelian\u00a0neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcriptome assembly technologies to narrow the causal mutation to the TAF1 locus, which included a SINE-VNTR-Alu (SVA) retrotransposition into intron 32 of the gene. Transcriptome analyses identified decreased expression of the canonical cTAF1 transcript among XDP probands, and de novo assembly\u00a0across multiple pluripotent stem-cell-derived neuronal lineages discovered aberrant TAF1 transcription that involved alternative splicing and intron retention (IR) in proximity to the SVA that was anti-correlated with overall TAF1 expression. CRISPR/Cas9 excision of the SVA rescued this XDP-specific\u00a0transcriptional signature and normalized TAF1 expression in probands. These data suggest an SVA-mediated aberrant transcriptional mechanism associated with XDP and may provide a roadmap for layered technologies and integrated assembly-based analyses for other unsolved Mendelian disorders.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29474918"
+},
+{
+ "id": "pmid:39502942",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/39502942",
+ "title": "Autosomal recessive",
+ "type": "article-journal",
+ "doi": "10.1093/braincomms/fcae377",
+ "authors": [
+ ["Sara", "Nagy"],
+ ["Alistair T", "Pagnamenta"],
+ ["Elisa", "Cali"],
+ ["Hilde M H", "Braakman"],
+ ["Juerd", "Wijntjes"],
+ ["Benno", "Kusters"],
+ ["Marc", "Gotkine"],
+ ["Orly", "Elpeleg"],
+ ["Vardiella", "Meiner"],
+ ["Jerica", "Lenberg"],
+ ["Kristen", "Wigby"],
+ ["Jennifer", "Friedman"],
+ ["Luke D", "Perry"],
+ ["Alexander M", "Rossor"],
+ ["Anna", "Uhrova Meszarosova"],
+ ["Dana", "Thomasova"],
+ ["Saiju", "Jacob"],
+ ["Mary", "O'Driscoll"],
+ ["Lenika", "De Simone"],
+ ["Dorothy K", "Grange"],
+ ["Richard", "Sommerville"],
+ ["Zahra", "Firoozfar"],
+ ["Shahryar", "Alavi"],
+ ["Mahta", "Mazaheri"],
+ ["Jevin M", "Parmar"],
+ ["Phillipa J", "Lamont"],
+ ["Veronica", "Pini"],
+ ["Anna", "Sarkozy"],
+ ["Francesco", "Muntoni"],
+ ["Gianina", "Ravenscroft"],
+ ["Eppie", "Jones"],
+ ["Declan", "O'Rourke"],
+ ["Melissa", "Nel"],
+ ["Jeannine M", "Heckmann"],
+ ["Michelle", "Kvalsund"],
+ ["Musambo M", "Kapapa"],
+ ["Somwe", "Wa Somwe"],
+ ["David R", "Bearden"],
+ ["Arman", "\u00c7akar"],
+ ["Anne-Marie", "Childs"],
+ ["Rita", "Horvath"],
+ ["Mary M", "Reilly"],
+ ["Henry", "Houlden"],
+ ["Reza", "Maroofian"]
+ ],
+ "publisher": "Brain communications",
+ "issn": "2632-1297",
+ "date": "2024-10-28",
+ "abstract": "A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39502942"
+},
+{
+ "id": "pmid:38652110",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/38652110",
+ "title": "Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.",
+ "type": "article-journal",
+ "doi": "10.1111/jcmm.18122",
+ "authors": [
+ ["Mohammed", "Athamneh"],
+ ["Nassam", "Daya"],
+ ["Andreas", "Hentschel"],
+ ["Andrea", "Gangfuss"],
+ ["Tobias", "Ruck"],
+ ["Adela Della", "Marina"],
+ ["Ulrike", "Schara-Schmidt"],
+ ["Albert", "Sickmann"],
+ ["Anne-Katrin", "G\u00fcttsches"],
+ ["Marcus", "Deschauer"],
+ ["Corinna", "Preusse"],
+ ["Matthias", "Vorgerd"],
+ ["Andreas", "Roos"]
+ ],
+ "publisher": "Journal of cellular and molecular medicine",
+ "issn": "1582-4934",
+ "date": "2024-04-01",
+ "abstract": "Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further validated by muscle-immunostainings unravelling HNRNPDL as a protein showing differences between VWA1-patients, healthy controls and patients suffering from neurogenic muscular atrophy and BICD2-related neuromyopathy. Immunostaining studies of PHGDH indicate its involvement in apoptotic processes via co-localisation with caspase-3. NEFM showed an increase in cells within the ECM in biopsies of all patients studied. Plasma proteomics unravelled dysregulation of 15 proteins serving as biomarker candidates among which a profound proportion of increased ones (6/11) are mostly related to antioxidative processes and have even partially been described as blood biomarkers for other entities of neuromuscular disorders before. CRP elevated in plasma also showed an increase in the extracellular space of VWA1-mutant muscle. Results of our combined studies for the first time describe pathophysiologically relevant biomarkers for VWA1-related neuromyopathy and suggest that VWA1-patient derived blood might hold the potential to study disease processes of clinical relevance, an important aspect for further preclinical studies.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38652110"
+},
+{
+ "id": "pmid:12796826",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/12796826",
+ "title": "Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.",
+ "type": "article-journal",
+ "doi": "10.1007/s00415-003-1052-x",
+ "authors": [
+ ["Y", "Hellenbroich"],
+ ["S", "Bubel"],
+ ["H", "Pawlack"],
+ ["S", "Opitz"],
+ ["P", "Vieregge"],
+ ["E", "Schwinger"],
+ ["C", "Z\u00fchlke"]
+ ],
+ "publisher": "Journal of neurology",
+ "issn": "0340-5354",
+ "date": "2003-06-01",
+ "abstract": "Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12796826"
+},
+{
+ "id": "pmid:29391420",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/29391420",
+ "title": "Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression.",
+ "type": "article-journal",
+ "doi": "10.1038/s41598-018-20242-2",
+ "authors": [
+ ["Akira", "Ishiguro"],
+ ["Minoru", "Hatayama"],
+ ["Maky I", "Otsuka"],
+ ["Jun", "Aruga"]
+ ],
+ "publisher": "Scientific reports",
+ "issn": "2045-2322",
+ "date": "2018-02-01",
+ "abstract": "One of the causal genes for holoprosencephaly (HPE) is ZIC2 (HPE5). It belongs to the zinc finger protein of the cerebellum (Zic) family of genes that share a C2H2-type zinc finger domain, similar to the GLI family of genes. In order to clarify the role of Zic2 in gene regulation, we searched for its direct target genes using chromatin immunoprecipitation (ChIP). We identified TGIF1 (HPE4), another holoprosencephaly-causative gene in humans. We identified Zic2-binding sites (ZBS) on the 5' flanking region of Tgif1 by in vitro DNA binding assays. ZBS were essential for Zic2-dependent transcriptional activation in reporter gene assays. Zic2 showed a higher affinity to ZBS than GLI-binding sequences. Zic2-binding to the cis-regulatory element near the Tgif1 promoter may be involved in the mechanism underlying forebrain development and incidences of HPE.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29391420"
+},
+{
+ "id": "pmid:42033229",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/42033229",
+ "title": "Dual role of ZIC2 during neural induction: from priming transcription factor to enhancer activator.",
+ "type": "article-journal",
+ "doi": "10.1093/nar/gkag374",
+ "authors": [
+ ["Mar\u00eda", "Mariner-Faul\u00ed"],
+ ["V\u00edctor", "S\u00e1nchez-Gaya"],
+ ["Sarah Malika", "Robert"],
+ ["Patricia", "Respuela"],
+ ["Sara", "de la Cruz-Molina"],
+ ["Sara", "Lobato-Moreno"],
+ ["Matteo", "Trovato"],
+ ["Karin D", "Prummel"],
+ ["Kyung-Min", "Noh"],
+ ["Judith B", "Zaugg"],
+ ["\u00c1lvaro", "Rada-Iglesias"]
+ ],
+ "publisher": "Nucleic acids research",
+ "issn": "1362-4962",
+ "date": "2026-04-23",
+ "abstract": "Defects in ZIC2, a member of the Zinc Finger of the Cerebellum family of transcription factors (TFs), cause holoprosencephaly, a congenital brain malformation characterized by the defective cleavage of cerebral hemispheres. However, the gene regulatory network (GRN) controlled by ZIC2 during neural development remains largely unexplored. Here, we combined a mouse embryonic stem cell (mESC) in vitro differentiation model toward anterior neural progenitors with genome editing and genomic methods to elucidate the ZIC2 GRN. We found that ZIC2 is dispensable in mESC due to compensation by ZIC3. In contrast, during neural induction ZIC2 directly controls the expression of master regulators implicated in the patterning and morphogenesis of specific brain regions (e.g. midbrain and roof plate). Mechanistically, ZIC2 plays a dual role in neural differentiation: during pluripotency exit, ZIC2 binds de novo to distal enhancers and increases their chromatin accessibility; during neural induction, ZIC2 is essential for the activation of a subset of the previously primed enhancers, which in turn control the expression of neural patterning regulators and signalling pathways (i.e. WNT) that prevent premature neuronal differentiation. Therefore, by sequentially acting as a promiscuous priming TF and selective enhancer activator, ZIC2 canalizes pluripotent cells toward neural progenitors with rostro-dorsal identities.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42033229"
+},
+{
+ "id": "pmid:10677508",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/10677508",
+ "title": "Zic2 regulates the kinetics of neurulation.",
+ "type": "article-journal",
+ "doi": "10.1073/pnas.97.4.1618",
+ "authors": [
+ ["T", "Nagai"],
+ ["J", "Aruga"],
+ ["O", "Minowa"],
+ ["T", "Sugimoto"],
+ ["Y", "Ohno"],
+ ["T", "Noda"],
+ ["K", "Mikoshiba"]
+ ],
+ "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
+ "issn": "0027-8424",
+ "date": "2000-02-15",
+ "abstract": "Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans. However, the pathogenesis is largely unknown. Here we show that reduced expression (knockdown) of mouse Zic2 causes neurulation delay, resulting in HPE and spina bifida. Differentiation of the most dorsal neural plate, which gives rise to both roof plate and neural crest cells, also was delayed as indicated by the expression lag of a roof plate marker, Wnt3a. In addition the development of neural crest derivatives such as dorsal root ganglion was impaired. These results suggest that the Zic2 expression level is crucial for the timing of neurulation. Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10677508"
+},
+{
+ "id": "pmid:18617531",
+ "manubot_success": true,
+ "link": "https://www.ncbi.nlm.nih.gov/pubmed/18617531",
+ "title": "Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.",
+ "type": "article-journal",
+ "doi": "10.1093/hmg/ddn197",
+ "authors": [
+ ["Nicholas", "Warr"],
+ ["Nicola", "Powles-Glover"],
+ ["Anna", "Chappell"],
+ ["Joan", "Robson"],
+ ["Dominic", "Norris"],
+ ["Ruth M", "Arkell"]
+ ],
+ "publisher": "Human molecular genetics",
+ "issn": "1460-2083",
+ "date": "2008-07-09",
+ "abstract": "The putative transcription factor ZIC2 is associated with a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the mechanism by which aberrant ZIC2 function causes classical HPE is unexplained. The zinc finger domain of all mammalian Zic genes is highly homologous with that of the Gli genes, which are transcriptional mediators of Shh signalling. Mutations in Shh and many other Hh pathway members cause HPE and it has been proposed that Zic2 acts within the Shh pathway to cause HPE. We have investigated the embryological cause of Zic2-associated HPE and the relationship between Zic2 and the Shh pathway using mouse genetics. We show that Zic2 does not interact with Shh to produce HPE. Moreover, molecular defects that are able to account for the HPE phenotype are present in Zic2 mutants before the onset of Shh signalling. Mutation of Zic2 causes HPE via a transient defect in the function of the organizer region at mid-gastrulation which causes an arrest in the development of the prechordal plate (PCP), a structure required for forebrain midline morphogenesis. The analysis provides genetic evidence that Zic2 functions during organizer formation and that the PCP develops via a multi-step process.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18617531"
+},
+{
+ "id": "mondo:0025193",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0025193",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0025193"
+},
+{
+ "id": "mondo:0010659",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010659",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010659"
+},
+{
+ "id": "mondo:0010735",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010735",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010735"
+},
+{
+ "id": "mondo:0010654",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010654",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010654"
+},
+{
+ "id": "mondo:0007435",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007435",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007435"
+},
+{
+ "id": "mondo:0008119",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008119",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008119"
+},
+{
+ "id": "mondo:0011330",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011330",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011330"
+},
+{
+ "id": "mondo:0008458",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008458",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008458"
+},
+{
+ "id": "mondo:0007182",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007182",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007182"
+},
+{
+ "id": "mondo:0012116",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0012116",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0012116"
+},
+{
+ "id": "mondo:0007296",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007296",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007296"
+},
+{
+ "id": "mondo:0008457",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008457",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008457"
+},
+{
+ "id": "mondo:0007838",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007838",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007838"
+},
+{
+ "id": "mondo:0011266",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011266",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011266"
+},
+{
+ "id": "mondo:0008322",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008322",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008322"
+},
+{
+ "id": "mondo:0007561",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007561",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007561"
+},
+{
+ "id": "mondo:0009698",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0009698",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0009698"
+},
+{
+ "id": "mondo:0014410",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0014410",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0014410"
+},
+{
+ "id": "mondo:0010679",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010679",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010679"
+},
+{
+ "id": "mondo:0008056",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008056",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008056"
+},
+{
+ "id": "mondo:0009998",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0009998",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0009998"
+},
+{
+ "id": "mondo:0010383",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010383",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010383"
+},
+{
+ "id": "mondo:0010706",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010706",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010706"
+},
+{
+ "id": "mondo:0010382",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010382",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010382"
+},
+{
+ "id": "mondo:0007201",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007201",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007201"
},
{
- "id": "pmid:29887139",
+ "id": "mondo:0600001",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29887139",
- "title": "Genetic Creutzfeldt-Jakob disease.",
- "type": "article-journal",
- "doi": "10.1016/b978-0-444-63945-5.00013-1",
- "authors": [
- ["Anna", "Ladogana"],
- ["Gabor G", "Kovacs"]
- ],
- "publisher": "Handbook of clinical neurology",
- "issn": "0072-9752",
- "date": "2018-01-01",
- "abstract": "Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10-15% of all CJD patients, who often have a family history of autosomal-dominant pattern of inheritance and variable penetrance. However, the use of genetic tests implemented by surveillance networks all over the world increasingly identifies unexpectedly PRNP mutations in persons apparently presenting with a sporadic form of CJD. A high phenotypic variability was reported in genetic prion diseases, which partly overlap with the features of sporadic CJD. Here we review recent advances on the epidemiologic, clinical, and neuropathologic features of cases that phenotypically resemble CJD linked to point and insert mutations of the PRNP gene. Multidisciplinary studies are still required to understand the phenotypic spectrum, penetrance, and significance of PRNP mutations.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0600001",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29887139"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0600001"
},
{
- "id": "pmid:25852448",
+ "id": "mondo:0007698",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/25852448",
- "title": "A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.",
- "type": "article-journal",
- "doi": "10.1159/000370337",
- "authors": [
- ["Masaki", "Mastushita"],
- ["Hiroshi", "Kitoh"],
- ["Asli", "Subasioglu"],
- ["Fatma", "Kurt Colak"],
- ["Munis", "Dundar"],
- ["Kenichi", "Mishima"],
- ["Yoshihiro", "Nishida"],
- ["Naoki", "Ishiguro"]
- ],
- "publisher": "Molecular syndromology",
- "issn": "1661-8769",
- "date": "2015-01-29",
- "abstract": "Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt-related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain (Q/A domain, 23Q/17A), a DNA-binding Runt domain and a proline/serine/threonine-rich domain. We report on a familial case of CCD with a novel mutation within the Q/A domain of the RUNX2 gene, which is an insertion in exon 1 (p.Q71_E72insQQQQ) representing the Q-repeat variant (27Q/17A). Functional analysis of the 27Q variant revealed abolished transactivation capacity of the mutated RUNX2 protein. This is the first case report that demonstrated a glutamine repeat variant of the RUNX2 gene causes CCD.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007698",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25852448"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007698"
},
{
- "id": "pmid:23505376",
+ "id": "mondo:0007739",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/23505376",
- "title": "Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.",
- "type": "article-journal",
- "doi": "10.1371/journal.pgen.1003290",
- "authors": [
- ["James", "Hughes"],
- ["Sandra", "Piltz"],
- ["Nicholas", "Rogers"],
- ["Dale", "McAninch"],
- ["Lynn", "Rowley"],
- ["Paul", "Thomas"]
- ],
- "publisher": "PLoS genetics",
- "issn": "1553-7404",
- "date": "2013-03-07",
- "abstract": "Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function. Misfolded proteins form aggregates when expressed in vitro; however, it is less clear whether aggregation is of relevance to these diseases in vivo. To investigate this issue, we used targeted mutagenesis of embryonic stem (ES) cells to generate mice with a polyalanine expansion mutation in Sox3 (Sox3-26ala) that is associated with X-linked Hypopituitarism (XH) in humans. By investigating both ES cells and chimeric mice, we show that endogenous polyalanine expanded SOX3 does not form protein aggregates in vivo but rather is present at dramatically reduced levels within the nucleus of mutant cells. Importantly, the residual mutant protein of chimeric embryos is able to rescue a block in gastrulation but is not sufficient for normal development of the hypothalamus, a region that is functionally compromised in Sox3 null embryos and individuals with XH. Together, these data provide the first definitive example of a disease-relevant PA mutant protein that is both nuclear and functional, thereby manifesting as a partial loss-of-function allele.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007739",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23505376"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007739"
},
{
- "id": "pmid:30973967",
+ "id": "mondo:0011671",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/30973967",
- "title": "A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.",
- "type": "article-journal",
- "doi": "10.1002/ana.25488",
- "authors": [
- ["Ana", "Westenberger"],
- ["Charles Jourdan", "Reyes"],
- ["Gerard", "Saranza"],
- ["Valerija", "Dobricic"],
- ["Henrike", "Hanssen"],
- ["Aloysius", "Domingo"],
- ["Bj\u00f6rn-Hergen", "Laabs"],
- ["Susen", "Schaake"],
- ["Jelena", "Pozojevic"],
- ["Aleksandar", "Rakovic"],
- ["Karen", "Gr\u00fctz"],
- ["Kimberly", "Begemann"],
- ["Uwe", "Walter"],
- ["Dirk", "Dressler"],
- ["Peter", "Bauer"],
- ["Arndt", "Rolfs"],
- ["Alexander", "M\u00fcnchau"],
- ["Frank J", "Kaiser"],
- ["Laurie J", "Ozelius"],
- ["Roland Dominic", "Jamora"],
- ["Raymond L", "Rosales"],
- ["Cid Czarina E", "Diesta"],
- ["Katja", "Lohmann"],
- ["Inke R", "K\u00f6nig"],
- ["Norbert", "Br\u00fcggemann"],
- ["Christine", "Klein"]
- ],
- "publisher": "Annals of neurology",
- "issn": "1531-8249",
- "date": "2019-05-03",
- "abstract": "X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011671",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30973967"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011671"
},
{
- "id": "pmid:29474918",
+ "id": "mondo:0020726",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29474918",
- "title": "Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.",
- "type": "article-journal",
- "doi": "10.1016/j.cell.2018.02.011",
- "authors": [
- ["Tatsiana", "Aneichyk"],
- ["William T", "Hendriks"],
- ["Rachita", "Yadav"],
- ["David", "Shin"],
- ["Dadi", "Gao"],
- ["Christine A", "Vaine"],
- ["Ryan L", "Collins"],
- ["Aloysius", "Domingo"],
- ["Benjamin", "Currall"],
- ["Alexei", "Stortchevoi"],
- ["Trisha", "Multhaupt-Buell"],
- ["Ellen B", "Penney"],
- ["Lilian", "Cruz"],
- ["Jyotsna", "Dhakal"],
- ["Harrison", "Brand"],
- ["Carrie", "Hanscom"],
- ["Caroline", "Antolik"],
- ["Marisela", "Dy"],
- ["Ashok", "Ragavendran"],
- ["Jason", "Underwood"],
- ["Stuart", "Cantsilieris"],
- ["Katherine M", "Munson"],
- ["Evan E", "Eichler"],
- ["Patrick", "Acu\u00f1a"],
- ["Criscely", "Go"],
- ["R Dominic G", "Jamora"],
- ["Raymond L", "Rosales"],
- ["Deanna M", "Church"],
- ["Stephen R", "Williams"],
- ["Sarah", "Garcia"],
- ["Christine", "Klein"],
- ["Ulrich", "M\u00fcller"],
- ["Kirk C", "Wilhelmsen"],
- ["H T Marc", "Timmers"],
- ["Yechiam", "Sapir"],
- ["Brian J", "Wainger"],
- ["Daniel", "Henderson"],
- ["Naoto", "Ito"],
- ["Neil", "Weisenfeld"],
- ["David", "Jaffe"],
- ["Nutan", "Sharma"],
- ["Xandra O", "Breakefield"],
- ["Laurie J", "Ozelius"],
- ["D Cristopher", "Bragg"],
- ["Michael E", "Talkowski"]
- ],
- "publisher": "Cell",
- "issn": "1097-4172",
- "date": "2018-02-22",
- "abstract": "X-linked Dystonia-Parkinsonism (XDP) is a Mendelian\u00a0neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcriptome assembly technologies to narrow the causal mutation to the TAF1 locus, which included a SINE-VNTR-Alu (SVA) retrotransposition into intron 32 of the gene. Transcriptome analyses identified decreased expression of the canonical cTAF1 transcript among XDP probands, and de novo assembly\u00a0across multiple pluripotent stem-cell-derived neuronal lineages discovered aberrant TAF1 transcription that involved alternative splicing and intron retention (IR) in proximity to the SVA that was anti-correlated with overall TAF1 expression. CRISPR/Cas9 excision of the SVA rescued this XDP-specific\u00a0transcriptional signature and normalized TAF1 expression in probands. These data suggest an SVA-mediated aberrant transcriptional mechanism associated with XDP and may provide a roadmap for layered technologies and integrated assembly-based analyses for other unsolved Mendelian disorders.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0020726",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29474918"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0020726"
},
{
- "id": "pmid:39502942",
+ "id": "mondo:0013594",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/39502942",
- "title": "Autosomal recessive",
- "type": "article-journal",
- "doi": "10.1093/braincomms/fcae377",
- "authors": [
- ["Sara", "Nagy"],
- ["Alistair T", "Pagnamenta"],
- ["Elisa", "Cali"],
- ["Hilde M H", "Braakman"],
- ["Juerd", "Wijntjes"],
- ["Benno", "Kusters"],
- ["Marc", "Gotkine"],
- ["Orly", "Elpeleg"],
- ["Vardiella", "Meiner"],
- ["Jerica", "Lenberg"],
- ["Kristen", "Wigby"],
- ["Jennifer", "Friedman"],
- ["Luke D", "Perry"],
- ["Alexander M", "Rossor"],
- ["Anna", "Uhrova Meszarosova"],
- ["Dana", "Thomasova"],
- ["Saiju", "Jacob"],
- ["Mary", "O'Driscoll"],
- ["Lenika", "De Simone"],
- ["Dorothy K", "Grange"],
- ["Richard", "Sommerville"],
- ["Zahra", "Firoozfar"],
- ["Shahryar", "Alavi"],
- ["Mahta", "Mazaheri"],
- ["Jevin M", "Parmar"],
- ["Phillipa J", "Lamont"],
- ["Veronica", "Pini"],
- ["Anna", "Sarkozy"],
- ["Francesco", "Muntoni"],
- ["Gianina", "Ravenscroft"],
- ["Eppie", "Jones"],
- ["Declan", "O'Rourke"],
- ["Melissa", "Nel"],
- ["Jeannine M", "Heckmann"],
- ["Michelle", "Kvalsund"],
- ["Musambo M", "Kapapa"],
- ["Somwe", "Wa Somwe"],
- ["David R", "Bearden"],
- ["Arman", "\u00c7akar"],
- ["Anne-Marie", "Childs"],
- ["Rita", "Horvath"],
- ["Mary M", "Reilly"],
- ["Henry", "Houlden"],
- ["Reza", "Maroofian"]
- ],
- "publisher": "Brain communications",
- "issn": "2632-1297",
- "date": "2024-10-28",
- "abstract": "A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0013594",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39502942"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0013594"
},
{
- "id": "pmid:38652110",
+ "id": "mondo:0011327",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/38652110",
- "title": "Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.",
- "type": "article-journal",
- "doi": "10.1111/jcmm.18122",
- "authors": [
- ["Mohammed", "Athamneh"],
- ["Nassam", "Daya"],
- ["Andreas", "Hentschel"],
- ["Andrea", "Gangfuss"],
- ["Tobias", "Ruck"],
- ["Adela Della", "Marina"],
- ["Ulrike", "Schara-Schmidt"],
- ["Albert", "Sickmann"],
- ["Anne-Katrin", "G\u00fcttsches"],
- ["Marcus", "Deschauer"],
- ["Corinna", "Preusse"],
- ["Matthias", "Vorgerd"],
- ["Andreas", "Roos"]
- ],
- "publisher": "Journal of cellular and molecular medicine",
- "issn": "1582-4934",
- "date": "2024-04-01",
- "abstract": "Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further validated by muscle-immunostainings unravelling HNRNPDL as a protein showing differences between VWA1-patients, healthy controls and patients suffering from neurogenic muscular atrophy and BICD2-related neuromyopathy. Immunostaining studies of PHGDH indicate its involvement in apoptotic processes via co-localisation with caspase-3. NEFM showed an increase in cells within the ECM in biopsies of all patients studied. Plasma proteomics unravelled dysregulation of 15 proteins serving as biomarker candidates among which a profound proportion of increased ones (6/11) are mostly related to antioxidative processes and have even partially been described as blood biomarkers for other entities of neuromuscular disorders before. CRP elevated in plasma also showed an increase in the extracellular space of VWA1-mutant muscle. Results of our combined studies for the first time describe pathophysiologically relevant biomarkers for VWA1-related neuromyopathy and suggest that VWA1-patient derived blood might hold the potential to study disease processes of clinical relevance, an important aspect for further preclinical studies.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011327",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38652110"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011327"
},
{
- "id": "pmid:12796826",
+ "id": "mondo:0800026",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/12796826",
- "title": "Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.",
- "type": "article-journal",
- "doi": "10.1007/s00415-003-1052-x",
- "authors": [
- ["Y", "Hellenbroich"],
- ["S", "Bubel"],
- ["H", "Pawlack"],
- ["S", "Opitz"],
- ["P", "Vieregge"],
- ["E", "Schwinger"],
- ["C", "Z\u00fchlke"]
- ],
- "publisher": "Journal of neurology",
- "issn": "0340-5354",
- "date": "2003-06-01",
- "abstract": "Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0800026",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12796826"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0800026"
},
{
- "id": "pmid:29391420",
+ "id": "mondo:0011439",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/29391420",
- "title": "Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression.",
- "type": "article-journal",
- "doi": "10.1038/s41598-018-20242-2",
- "authors": [
- ["Akira", "Ishiguro"],
- ["Minoru", "Hatayama"],
- ["Maky I", "Otsuka"],
- ["Jun", "Aruga"]
- ],
- "publisher": "Scientific reports",
- "issn": "2045-2322",
- "date": "2018-02-01",
- "abstract": "One of the causal genes for holoprosencephaly (HPE) is ZIC2 (HPE5). It belongs to the zinc finger protein of the cerebellum (Zic) family of genes that share a C2H2-type zinc finger domain, similar to the GLI family of genes. In order to clarify the role of Zic2 in gene regulation, we searched for its direct target genes using chromatin immunoprecipitation (ChIP). We identified TGIF1 (HPE4), another holoprosencephaly-causative gene in humans. We identified Zic2-binding sites (ZBS) on the 5' flanking region of Tgif1 by in vitro DNA binding assays. ZBS were essential for Zic2-dependent transcriptional activation in reporter gene assays. Zic2 showed a higher affinity to ZBS than GLI-binding sequences. Zic2-binding to the cis-regulatory element near the Tgif1 promoter may be involved in the mechanism underlying forebrain development and incidences of HPE.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011439",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29391420"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011439"
},
{
- "id": "pmid:42033229",
+ "id": "mondo:0014662",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/42033229",
- "title": "Dual role of ZIC2 during neural induction: from priming transcription factor to enhancer activator.",
- "type": "article-journal",
- "doi": "10.1093/nar/gkag374",
- "authors": [
- ["Mar\u00eda", "Mariner-Faul\u00ed"],
- ["V\u00edctor", "S\u00e1nchez-Gaya"],
- ["Sarah Malika", "Robert"],
- ["Patricia", "Respuela"],
- ["Sara", "de la Cruz-Molina"],
- ["Sara", "Lobato-Moreno"],
- ["Matteo", "Trovato"],
- ["Karin D", "Prummel"],
- ["Kyung-Min", "Noh"],
- ["Judith B", "Zaugg"],
- ["\u00c1lvaro", "Rada-Iglesias"]
- ],
- "publisher": "Nucleic acids research",
- "issn": "1362-4962",
- "date": "2026-04-23",
- "abstract": "Defects in ZIC2, a member of the Zinc Finger of the Cerebellum family of transcription factors (TFs), cause holoprosencephaly, a congenital brain malformation characterized by the defective cleavage of cerebral hemispheres. However, the gene regulatory network (GRN) controlled by ZIC2 during neural development remains largely unexplored. Here, we combined a mouse embryonic stem cell (mESC) in vitro differentiation model toward anterior neural progenitors with genome editing and genomic methods to elucidate the ZIC2 GRN. We found that ZIC2 is dispensable in mESC due to compensation by ZIC3. In contrast, during neural induction ZIC2 directly controls the expression of master regulators implicated in the patterning and morphogenesis of specific brain regions (e.g. midbrain and roof plate). Mechanistically, ZIC2 plays a dual role in neural differentiation: during pluripotency exit, ZIC2 binds de novo to distal enhancers and increases their chromatin accessibility; during neural induction, ZIC2 is essential for the activation of a subset of the previously primed enhancers, which in turn control the expression of neural patterning regulators and signalling pathways (i.e. WNT) that prevent premature neuronal differentiation. Therefore, by sequentially acting as a promiscuous priming TF and selective enhancer activator, ZIC2 canalizes pluripotent cells toward neural progenitors with rostro-dorsal identities.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0014662",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:42033229"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0014662"
},
{
- "id": "pmid:10677508",
+ "id": "mondo:0007340",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/10677508",
- "title": "Zic2 regulates the kinetics of neurulation.",
- "type": "article-journal",
- "doi": "10.1073/pnas.97.4.1618",
- "authors": [
- ["T", "Nagai"],
- ["J", "Aruga"],
- ["O", "Minowa"],
- ["T", "Sugimoto"],
- ["Y", "Ohno"],
- ["T", "Noda"],
- ["K", "Mikoshiba"]
- ],
- "publisher": "Proceedings of the National Academy of Sciences of the United States of America",
- "issn": "0027-8424",
- "date": "2000-02-15",
- "abstract": "Mutation in human ZIC2, a zinc finger protein homologous to Drosophila odd-paired, causes holoprosencephaly (HPE), which is a common, severe malformation of the brain in humans. However, the pathogenesis is largely unknown. Here we show that reduced expression (knockdown) of mouse Zic2 causes neurulation delay, resulting in HPE and spina bifida. Differentiation of the most dorsal neural plate, which gives rise to both roof plate and neural crest cells, also was delayed as indicated by the expression lag of a roof plate marker, Wnt3a. In addition the development of neural crest derivatives such as dorsal root ganglion was impaired. These results suggest that the Zic2 expression level is crucial for the timing of neurulation. Because the Zic2 knockdown mouse is the first mutant with HPE and spina bifida to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0007340",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10677508"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0007340"
},
{
- "id": "pmid:18617531",
+ "id": "mondo:0011781",
"manubot_success": true,
- "link": "https://www.ncbi.nlm.nih.gov/pubmed/18617531",
- "title": "Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.",
- "type": "article-journal",
- "doi": "10.1093/hmg/ddn197",
- "authors": [
- ["Nicholas", "Warr"],
- ["Nicola", "Powles-Glover"],
- ["Anna", "Chappell"],
- ["Joan", "Robson"],
- ["Dominic", "Norris"],
- ["Ruth M", "Arkell"]
- ],
- "publisher": "Human molecular genetics",
- "issn": "1460-2083",
- "date": "2008-07-09",
- "abstract": "The putative transcription factor ZIC2 is associated with a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the mechanism by which aberrant ZIC2 function causes classical HPE is unexplained. The zinc finger domain of all mammalian Zic genes is highly homologous with that of the Gli genes, which are transcriptional mediators of Shh signalling. Mutations in Shh and many other Hh pathway members cause HPE and it has been proposed that Zic2 acts within the Shh pathway to cause HPE. We have investigated the embryological cause of Zic2-associated HPE and the relationship between Zic2 and the Shh pathway using mouse genetics. We show that Zic2 does not interact with Shh to produce HPE. Moreover, molecular defects that are able to account for the HPE phenotype are present in Zic2 mutants before the onset of Shh signalling. Mutation of Zic2 causes HPE via a transient defect in the function of the organizer region at mid-gastrulation which causes an arrest in the development of the prechordal plate (PCP), a structure required for forebrain midline morphogenesis. The analysis provides genetic evidence that Zic2 functions during organizer formation and that the PCP develops via a multi-step process.",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0011781",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
"language": "en",
- "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:18617531"
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0011781"
},
{
- "id": "genereviews:NBK1256",
+ "id": "mondo:0008542",
"manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1256/",
- "title": "Spinocerebellar Ataxia Type 7",
- "type": "chapter",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
"doi": "",
- "authors": [
- ["Albert R.", "La Spada"]
- ],
- "publisher": "GeneReviews\u00ae",
+ "authors": [],
+ "publisher": "",
"issn": "",
- "date": "1993-01-01",
- "abstract": "Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control., The diagnosis of SCA7 is established in a proband by the identification of a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN7 by molecular genetic testing., Treatment of manifestations: Multidisciplinary care involves supportive treatment of: neurologic manifestations \u2013 physical and occupational therapy to help maintain mobility and function, and pharmacologic treatment to reduce symptoms; dysarthria \u2013 speech and language therapy and alternative communication methods; dysphagia \u2013 feeding therapy to improve nutrition and reduce the risk of aspiration; and reduced vision \u2013 use of low vision aids and consultation with agencies for the visually impaired. Surveillance: Routine follow up with multidisciplinary care providers. Agents/circumstances to avoid: Avoid: alcohol intake (especially if excessive) as it can further impair cerebellar function; foods identified by a registered dietitian as possible causes of dizziness or disorientation. Therapies under investigation: Several ongoing clinical trials for medications used as treatment for ataxia., SCA7 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting an abnormal CAG repeat expansion in ATXN7. Once an ATXN7 CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for SCA7 are possible.",
- "language": "eng",
- "note": "PMID: 20301433\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1256"
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0008542",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0008542"
},
{
- "id": "genereviews:NBK564656",
+ "id": "mondo:0010847",
"manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK564656/",
- "title": "RFC1 CANVAS\u00a0/ Spectrum Disorder",
- "type": "chapter",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
"doi": "",
- "authors": [
- ["Andrea", "Cortese"],
- ["Mary M.", "Reilly"],
- ["Henry", "Houlden"]
- ],
- "publisher": "GeneReviews\u00ae",
+ "authors": [],
+ "publisher": "",
"issn": "",
- "date": "1993-01-01",
- "abstract": "The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the systems involved in balance control; (4) autonomic dysfunction; and (5) cough. Onset begins after age 35 years. In a retrospective study of 100 affected individuals after ten years of disease duration, two thirds had clinical features of CANVAS; 16 had a complex sensory ataxia with cerebellar or vestibular involvement; and 15 had a sensory neuropathy as the only clinically detectable manifestation., The diagnosis of RFC1 CANVAS\u00a0/ spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 identified by molecular genetic testing that is targeted to detect these expansions. Note that pathogenic RFC1 AAGGG repeat expansions cannot be detected by sequence-based multigene panels or exome sequencing. However, they can be suspected by genome sequencing., Treatment of manifestations: The goals of treatment are to maximize function and reduce complications. Depending on the clinical manifestations, each affected individual should be managed by a multidisciplinary team of relevant specialists such as neurologists, occupational therapists, physical therapists, physiatrists, and (depending on individual needs) speech therapists, respiratory therapists, nutritionists, and gastroenterologists. Surveillance: Routine follow up by multidisciplinary specialists to assess: progression of neurologic findings; mobility, self-help skills; need for alternative communication methods; and aspiration risk and feeding methods. Agents/circumstances to avoid: Medications of known toxicity for peripheral nerves (e.g., neurotoxic chemotherapy agents, pyridoxine), the cerebellum (e.g., phenytoin), or the vestibular system (e.g., aminoglycosides); chronic alcohol consumption., RFC1 CANVAS / spectrum disorder is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an RFC1 AAGGG repeat expansion, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once biallelic RFC1 AAGGG repeat expansions have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.",
- "language": "eng",
- "note": "PMID: 33237689\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK564656"
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0010847",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0010847"
},
{
- "id": "genereviews:NBK1513",
+ "id": "mondo:0012322",
"manubot_success": true,
- "link": "http://www.ncbi.nlm.nih.gov/books/NBK1513/",
- "title": "Cleidocranial Dysplasia Spectrum Disorder",
- "type": "chapter",
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
"doi": "",
- "authors": [
- ["Keren", "Machol"],
- ["Roberto", "Mendoza-Londono"],
- ["Brendan", "Lee"]
- ],
- "publisher": "GeneReviews\u00ae",
+ "authors": [],
+ "publisher": "",
"issn": "",
- "date": "1993-01-01",
- "abstract": "Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal., The diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or a heterozygous pathogenic variant in RUNX2 identified by molecular genetic testing., Treatment of manifestations: If the cranial vault defect is significant, the head needs protection from blunt trauma; helmets may be used for high-risk activities. Surgical cosmesis for depressed forehead or lengthening of hypoplastic clavicles can be considered. Careful planning of anesthetic management due to craniofacial and dental abnormalities. Consultation with an otolaryngologist to assist in securing the airway. Consideration of alternative anesthetic approaches, including neuraxial block, taking into account possible spine abnormalities. If bone density is below normal, treatment with calcium and vitamin D supplementation. Dental procedures to address retention of primary dentition, presence of supernumerary teeth, and non-eruption of secondary dentition. Such procedures may include prosthetic replacements, removal of the supernumerary teeth followed by surgical repositioning of the secondary teeth, and a combination of surgical and orthodontic measures for actively erupting and aligning the impacted secondary teeth. Speech therapy as needed. Aggressive treatment of sinus and middle ear infections; consideration of tympanostomy tubes for recurrent middle ear infections; regular immunizations including influenza. Sleep study in those with manifestations of obstructive sleep apnea; surgical intervention may be required for upper airway obstruction. Surveillance: Monitor children for orthopedic complications, dental abnormalities, sinus and ear infections, upper airway obstruction, hearing loss, and speech issues. DXA scan to assess bone mineral density beginning in early adolescence and every five to ten years thereafter. Agents/circumstances to avoid: Helmets and protective devices should be worn when participating in high-risk activities. Pregnancy management: Monitor affected women during pregnancy for cephalopelvic disproportion., CCD spectrum disorder is inherited in an autosomal dominant manner. The proportion of individuals with CCD spectrum disorder caused by a de novo pathogenic variant is high. Each child of an individual with CCD spectrum disorder has a 50% chance of inheriting the RUNX2 pathogenic variant. Once the RUNX2 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing for CCD spectrum disorder are possible.",
- "language": "eng",
- "note": "PMID: 20301686\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1513"
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0012322",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0012322"
+},
+{
+ "id": "mondo:0005258",
+ "manubot_success": true,
+ "title": "Ontology Lookup Service (OLS)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.ebi.ac.uk/ols4/ontologies/mondo/entities/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0005258",
+ "abstract": "OLS is a repository for biomedical ontologies that aims to provide a single point of access to the latest ontology versions",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0005258"
},
{
"id": "omim:309548",
@@ -165894,10 +165421,10 @@
"note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
},
{
- "id": "omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
+ "id": "omim:607136",
"manubot_success": false,
- "link": "https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438",
- "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438. Skipping"
+ "link": "https://omim.org/entry/607136",
+ "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
},
{
"id": "omim:187500",
@@ -165936,10 +165463,34 @@
"note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
},
{
- "id": "malacard:KNS007",
+ "id": "genereviews:NBK535148",
"manubot_success": false,
- "link": "https://www.malacards.org/card/KNS007",
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK535148",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK535148']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1333",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1333",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1333']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK51932",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK51932",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK51932']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1491",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1491",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1491']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1184",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1184",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1184']' timed out after 3 seconds"
},
{
"id": "genereviews:NBK1175",
@@ -165947,18 +165498,171 @@
"link": "https://www.ncbi.nlm.nih.gov/books/NBK1175",
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1175']' timed out after 3 seconds"
},
+{
+ "id": "genereviews:NBK1275",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1275",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1275']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1196",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1196",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1196']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK557816",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK557816",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK557816']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1256",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1256",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1256']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1268",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1268",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1268']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK268647",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK268647",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK268647']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1140",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1140",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1140']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK500456",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK500456",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK500456']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1466",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1466",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1466']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1123",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1123",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1123']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1487",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1487",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1487']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1142",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1142",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1142']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK541729",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK541729",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK541729']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1119",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1119",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1119']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1165",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1165",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1165']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK599589",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK599589",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK599589']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1384",
"manubot_success": false,
"link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
},
+{
+ "id": "genereviews:NBK1441",
+ "manubot_success": true,
+ "link": "http://www.ncbi.nlm.nih.gov/books/NBK1441/",
+ "title": "Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome",
+ "type": "chapter",
+ "doi": "",
+ "authors": [
+ ["Charlotte", "Matton"],
+ ["Arnaud", "Thomaes"],
+ ["Martine", "Cools"],
+ ["Hannah", "Verdin"],
+ ["Elfride", "De Baere"]
+ ],
+ "publisher": "GeneReviews\u00ae",
+ "issn": "",
+ "date": "1993-01-01",
+ "abstract": "Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is an eyelid malformation present at birth in all individuals involving, respectively, narrowing of the horizontal aperture of the eyelids, drooping of the upper eyelid, a skin fold arising from the lower eyelid and running inward and upward, and lateral displacement of the medial canthi. Other ocular findings that occur at increased rates compared to those in the general population include strabismus, refractive errors, and amblyopia. The second finding is age-related primary ovarian insufficiency (POI) in affected females characterized by reduced penetrance as well as interfamilial and intrafamilial variability. A minority of affected women experience primary amenorrhea (i.e., the absence of menarche by age 15 years due to ovarian dysfunction). Menarche is usually normal, followed by oligomenorrhea and secondary amenorrhea for at least four months. Secondary sexual characteristics are usually normal., The diagnosis of BPES is established in a proband with suggestive findings and a heterozygous pathogenic variant in FOXL2 or its regulatory domain identified by molecular genetic testing., Treatment of manifestations: Multidisciplinary care by specialists in pediatric ophthalmology (to correct refractive errors and manage strabismus), oculoplastic surgery (to correct eyelid malformations), pediatric or adult endocrinology (to diagnose and manage POI), and reproductive endocrinology, gynecology, and/or psychology (to discuss options for parenthood and provide emotional support as needed). Surveillance: Individualized follow up with the treating ophthalmologist, treating oculoplastic surgeon, and treating endocrinologist and gynecologist is recommended. Agents/circumstances to avoid: Delaying ophthalmologic evaluation and/or surgical correction can lead to severe amblyopia and permanent vision loss if not treated in childhood. Before surgery, eye rubbing should be minimized to avoid damaging the cornea. Because of the risk of POI, endocrinologic and gynecologic follow up without evaluation of ovarian reserve may reduce reproductive options. Evaluation of relatives at risk: Evaluate older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from ophthalmic surveillance and, in female relatives, endocrinologic surveillance to monitor ovarian function., BPES is inherited in an autosomal dominant manner. More than half of individuals diagnosed with BPES have an affected parent. Some individuals have the disorder as the result of a de novo genetic alteration. Each child of an individual with BPES has a 50% chance of inheriting the causative genetic alteration. Females with BPES should be informed regarding the risk of POI and the importance of endocrinologic surveillance to monitor ovarian function. Once the BPES-causing genetic alteration has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.",
+ "language": "eng",
+ "note": "PMID: 20301614\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1441"
+},
+{
+ "id": "genereviews:NBK1281",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1281",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1281']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1423",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1423",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1423']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1305",
"manubot_success": false,
"link": "https://www.ncbi.nlm.nih.gov/books/NBK1305",
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1305']' timed out after 3 seconds"
},
+{
+ "id": "genereviews:NBK1529",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1529",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1529']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK153723",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK153723",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK153723']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1126",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1126",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1126']' timed out after 3 seconds"
+},
+{
+ "id": "genereviews:NBK1427",
+ "manubot_success": false,
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1427",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1427']' timed out after 3 seconds"
+},
{
"id": "genereviews:NBK1229",
"manubot_success": false,
@@ -165966,31 +165670,382 @@
"note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1229']' timed out after 3 seconds"
},
{
- "id": "isbn:978-3-031-66932-3",
+ "id": "genereviews:NBK564656",
"manubot_success": false,
- "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'isbn:978-3-031-66932-3']' timed out after 3 seconds"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK564656",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK564656']' timed out after 3 seconds"
},
{
- "id": "pmid:25101480",
+ "id": "genereviews:NBK1513",
"manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1513",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1513']' timed out after 3 seconds"
},
{
- "id": "pmid:29939637",
+ "id": "genereviews:NBK1438",
"manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438']' timed out after 3 seconds"
},
{
- "id": "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
+ "id": "genereviews:NBK1438;@pmid:35245110",
"manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1438;@pmid:35245110",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1438;@pmid:35245110']' timed out after 3 seconds"
},
{
- "id": "pmid:39666847",
+ "id": "genereviews:NBK1530",
"manubot_success": false,
- "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
- "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+ "link": "https://www.ncbi.nlm.nih.gov/books/NBK1530",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1530']' timed out after 3 seconds"
+},
+{
+ "id": "url:medlineplus.gov/genetics/condition/fragile-xe-syndrome",
+ "manubot_success": true,
+ "title": "Fragile XE syndrome: MedlinePlus Genetics",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://medlineplus.gov/genetics/condition/fragile-xe-syndrome/",
+ "abstract": "Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Explore symptoms, inheritance, genetics of this condition.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/fragile-xe-syndrome"
+},
+{
+ "id": "url:https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias",
+ "manubot_success": true,
+ "title": "UpToDate",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.uptodate.com/contents/autosomal-dominant-spinocerebellar-ataxias"
+},
+{
+ "id": "url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents",
+ "manubot_success": true,
+ "title": "UpToDate",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents"
+},
+{
+ "id": "url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/",
+ "manubot_success": true,
+ "title": "Nonsyndromic holoprosencephaly: MedlinePlus Genetics",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "link": "https://medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/",
+ "abstract": "Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Explore symptoms, inheritance, genetics of this condition.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/"
+},
+{
+ "id": "malacard:KNS007",
+ "manubot_success": false,
+ "link": "https://www.malacards.org/card/KNS007",
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
+},
+{
+ "id": "doi:10.17161/2tmg0f25",
+ "manubot_success": true,
+ "title": "A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase",
+ "type": "article-journal",
+ "doi": "10.17161/2tmg0f25",
+ "authors": [
+ ["Joseph", "Conway"],
+ ["Yuebing", "Li"],
+ ["Sakhi", "Bhansali"]
+ ],
+ "publisher": "RRNMF Neuromuscular Journal",
+ "issn": "",
+ "date": "2024-12-17",
+ "link": "https://doi.org/g8wt7z",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.17161/2tmg0f25"
+},
+{
+ "id": "doi:10.1016/j.omsc.2023.100340",
+ "manubot_success": true,
+ "title": "Treatment of the median mandibular cleft in Richieri-Costa-Pereira syndrome with a customized total mandibular prosthesis: A case report",
+ "type": "article-journal",
+ "doi": "10.1016/j.omsc.2023.100340",
+ "authors": [
+ ["Ryuichi", "Hoshi"],
+ ["Paula", "Marcella Silva Drago"],
+ ["Henrique", "Mascarenhas Villela"],
+ ["Gabriela", "Gayer Sheibler"],
+ ["Daniel", "Serra Cassano"],
+ ["Fernanda", "Barros Silva de Pedreira Barbosa"],
+ ["Lissa", "Hoshi"],
+ ["Isadora", "dos Santos Lima"]
+ ],
+ "publisher": "Oral and Maxillofacial Surgery Cases",
+ "issn": "",
+ "date": "2024-03-01",
+ "link": "https://doi.org/g8rxvs",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1016/j.omsc.2023.100340"
+},
+{
+ "id": "doi:https://doi.org/10.64898/2026.05.08.26352223",
+ "manubot_success": true,
+ "title": "Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability",
+ "type": "report",
+ "doi": "https://doi.org/10.64898/2026.05.08.26352223",
+ "authors": [
+ ["Harriet", "Cullen"],
+ ["Christopher", "Clarkson"],
+ ["Henrique", "Nascimento"],
+ ["Matteo", "Zanovello"],
+ ["Jeffrey", "Long"],
+ ["Mark", "Caulfield"],
+ ["Michael", "Simpson"],
+ ["Sarah J", "Tabrizi"],
+ ["Arianna", "Tucci"]
+ ],
+ "publisher": "Genetic and Genomic Medicine",
+ "issn": "",
+ "date": "2026-05-12",
+ "link": "https://doi.org/hb6bxr",
+ "abstract": "Abstract\r\n \r\n Huntington\u2019s disease is caused by a CAG repeat expansion in the Huntingtin gene (\r\n HTT\r\n ) above a pathogenic threshold; however, the biological consequences of repeat-length variation below this threshold remain poorly understood. Using whole-genome sequencing and linked phenotypic data from UK Biobank participants, we show that repeat-length variation within the normal and intermediate range is associated with measurable differences in brain volume, neuropsychiatric risk, and cognitive processing, and that only one third of pathogenic allele carriers have a recorded clinical diagnosis.\r\n \r\n \r\n Analyses were performed in 474,446 UK Biobank participants, including 30,052 with intermediate repeats (27\r\n \u2013\r\n 35), 873 with reduced-penetrance repeats (36\r\n \u2013\r\n 39), and 155 with pathogenic repeats (\u226540); 48,378 individuals had structural MRI. For quantitative phenotypes (brain volumes and cognition), associations with continuous repeat length were modelled using linear regression within the normal and intermediate range (\u226435 repeats); deviation at \u226536 repeats was defined as departure from the extrapolated linear trend. For clinical outcomes (depression, anxiety, dementia, and delirium), repeat length was analysed categorically using Kaplan\u2013Meier and Cox proportional hazards models with age as the timescale.\r\n \r\n \r\n Within the normal and intermediate range, longer\r\n HTT\r\n CAG repeat length was associated with smaller subcortical and global brain volumes, including the accumbens, putamen, thalamus, hippocampus, and total grey and white matter, with effects amplified in older individuals. Intermediate alleles were associated with an increase in age-dependent depression risk (HR = 1.05, 95% CI 1.02\r\n \u2013\r\n 1.10) and longer repeat length within the normal and intermediate range predicted faster reaction time, a pattern that reversed sharply at pathogenic lengths. Among carriers of 40\u201341 CAG repeats, only 42% (95% CI 19\u201359%) had received a recorded Huntington\u2019s disease diagnosis by age 84; however, the majority of pathogenic allele carriers who underwent neuroimaging met biomarker criteria for Stage 1 disease, indicating that early neurodegeneration is present in these individuals.\r\n \r\n \r\n This work challenges the current understanding of the\r\n HTT\r\n CAG repeat length as a purely categorical determinant of monogenic disease and shows that repeat length acts as a quantitative modifier of brain structure and neuropsychiatric vulnerability across the population. These findings have implications for risk prediction, penetrance estimation, and the interpretation of repeat variation in population genomics.",
+ "language": "en",
+ "note": "DOI: 10.64898/2026.05.08.26352223\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.64898/2026.05.08.26352223"
+},
+{
+ "id": "doi:https://doi.org/10.1016/B978-0-444-63945-5.00013-1",
+ "manubot_success": true,
+ "title": "Genetic Creutzfeldt\u2013Jakob disease",
+ "type": "chapter",
+ "doi": "https://doi.org/10.1016/b978-0-444-63945-5.00013-1",
+ "authors": [],
+ "publisher": "Handbook of Clinical Neurology",
+ "issn": "",
+ "date": "2018-01-01",
+ "link": "https://doi.org/hb6bxs",
+ "abstract": "",
+ "language": "en",
+ "note": "DOI: 10.1016/B978-0-444-63945-5.00013-1\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:https://doi.org/10.1016/b978-0-444-63945-5.00013-1"
+},
+{
+ "id": "doi:10.1136/jnnp-2024-ABN.259",
+ "manubot_success": true,
+ "title": "RFC1 CANVAS: genotype phenotype correlations",
+ "type": "paper-conference",
+ "doi": "10.1136/jnnp-2024-abn.259",
+ "authors": [
+ ["Curro", "Riccardo"],
+ ["Natalia", "Dominik"],
+ ["Stojkovic", "Tanya"],
+ ["Miller", "James"],
+ ["Gosal", "David"],
+ ["Hadivassiliou", "Marios"],
+ ["Giunti", "Paola"],
+ ["Henry", "Houlden"],
+ ["Reilly", "Mary M"],
+ ["Cortese", "Andrea"]
+ ],
+ "publisher": "RFC1 CANVAS: genotype phenotype correlations",
+ "issn": "",
+ "date": "2024-11-01",
+ "link": "https://doi.org/g8rxvt",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: doi:10.1136/jnnp-2024-abn.259"
+},
+{
+ "id": "doi:10.1016/j.gimo.2024.101607",
+ "manubot_success": false,
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'doi:10.1016/j.gimo.2024.101607']' timed out after 3 seconds"
+},
+{
+ "id": "orphanet:481",
+ "manubot_success": true,
+ "link": "https://www.orpha.net/en/disease/detail/481",
+ "title": "V\u00e9rification de la connexion...",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/481"
+},
+{
+ "id": "orphanet:98934",
+ "manubot_success": true,
+ "link": "https://www.orpha.net/en/disease/detail/98934",
+ "title": "V\u00e9rification de la connexion...",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/98934"
+},
+{
+ "id": "orphanet:1452",
+ "manubot_success": true,
+ "link": "https://www.orpha.net/en/disease/detail/1452",
+ "title": "V\u00e9rification de la connexion...",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/1452"
+},
+{
+ "id": "orphanet:1425",
+ "manubot_success": true,
+ "link": "https://www.orpha.net/en/disease/detail/1425",
+ "title": "V\u00e9rification de la connexion...",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/1425"
+},
+{
+ "id": "orphanet:2162",
+ "manubot_success": true,
+ "link": "https://www.orpha.net/en/disease/detail/2162",
+ "title": "V\u00e9rification de la connexion...",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.orpha.net/en/disease/detail/2162"
+},
+{
+ "id": "stripy:C9ORF72",
+ "manubot_success": true,
+ "link": "https://stripy.org/database/C9ORF72",
+ "title": "STRipy - STRs database (C9ORF72 locus)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "Information about short tandem repeats in the C9ORF72 locus (overview, repeat ranges, population-wide data and more).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://stripy.org/database/C9ORF72"
+},
+{
+ "id": "stripy:NIPA1",
+ "manubot_success": true,
+ "link": "https://stripy.org/database/NIPA1",
+ "title": "STRipy - STRs database (NIPA1 locus)",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "Information about short tandem repeats in the NIPA1 locus (overview, repeat ranges, population-wide data and more).",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://stripy.org/database/NIPA1"
+},
+{
+ "id": "gnomad:EIF4A3",
+ "manubot_success": true,
+ "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/EIF4A3?dataset=gnomad_r4",
+ "title": "gnomAD",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/EIF4A3?dataset=gnomad_r4"
+},
+{
+ "id": "gnomad:GIPC1",
+ "manubot_success": true,
+ "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/GIPC1?dataset=gnomad_r4",
+ "title": "gnomAD",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/GIPC1?dataset=gnomad_r4"
+},
+{
+ "id": "gnomad:RUNX2",
+ "manubot_success": true,
+ "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/RUNX2?dataset=gnomad_r4",
+ "title": "gnomAD",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/RUNX2?dataset=gnomad_r4"
+},
+{
+ "id": "gnomad:XYLT1",
+ "manubot_success": true,
+ "link": "https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4",
+ "title": "gnomAD",
+ "type": "webpage",
+ "doi": "",
+ "authors": [],
+ "publisher": "",
+ "issn": "",
+ "date": "",
+ "abstract": "The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.",
+ "language": "en",
+ "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4"
+},
+{
+ "id": "isbn:978-3-031-66932-3",
+ "manubot_success": false,
+ "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'isbn:978-3-031-66932-3']' timed out after 3 seconds"
}]
\ No newline at end of file
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index 3cd1c9aa..2c1d9762 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -265,7 +265,7 @@
"locus_tags": ["contraction", "somatic_instability", "anticipation", "paternal_expansion", "length_affects_severity", "length_affects_penetrance", "length_affects_onset"],
"disease_tags": [],
"references": ["pmid:11436124", "pmid:15851746", "doi:10.17161/2tmg0f25", "pmid:29398703", "pmid:36169768", "pmid:22609045", "genereviews:NBK1333", "pmid:24041967", "pmid:35245110", "pmid:36797998", "pmid:10398229", "pmid:34922802", "pmid:20184516", "pmid:37628685", "orphanet:481", "pmid:37578398", "pmid:2062380", "pmid:15313856", "mondo:0010735"],
- "additional_literature": ["pmid:42196324", "pmid:42138244", "pmid:42070078", "pmid:42067676", "pmid:41762523", "pmid:41564929", "pmid:41552385", "pmid:41513898", "pmid:41361869", "pmid:41246945", "pmid:40912964", "pmid:40614362", "pmid:40585427", "pmid:40488202", "pmid:40450087", "pmid:40371721", "pmid:40366765", "pmid:40031964", "pmid:39755011", "pmid:39729861", "pmid:39694906", "pmid:39570490", "pmid:39189540", "pmid:39140081", "pmid:38976730", "pmid:38860410", "pmid:38737445", "pmid:38701087", "pmid:38585669", "pmid:38284836", "pmid:38171945", "pmid:37936145", "pmid:37718889", "pmid:37715620", "pmid:37422780", "pmid:37269008", "pmid:37045687", "pmid:36988133", "pmid:36717478", "pmid:36701310", "pmid:36622568", "pmid:36599645", "pmid:36585400", "pmid:36142533", "pmid:36137740", "pmid:35982373", "pmid:35876459", "pmid:35872088", "pmid:35867854", "pmid:35661131", "pmid:35599735", "pmid:35571498", "pmid:35237894", "pmid:35230239", "pmid:35189449", "pmid:35182509", "pmid:35165376", "pmid:34914563", "pmid:34744823", "pmid:34723064", "pmid:34407295", "pmid:34390226", "pmid:34372915", "pmid:34006154", "pmid:33865179", "pmid:33738134", "pmid:33714752", "pmid:33261594", "pmid:33191626", "pmid:32989102", "pmid:32856855", "pmid:32468478", "pmid:32216057", "pmid:32166698", "pmid:32152060", "pmid:32070397", "pmid:31901908", "pmid:31522753", "pmid:31446215", "pmid:31303548", "pmid:31179189", "pmid:31040020", "pmid:31030566", "pmid:31019916", "pmid:30940675", "pmid:30886222", "pmid:30838350", "pmid:30837566", "pmid:30615214", "pmid:30612224", "pmid:30415810", "pmid:30351503", "pmid:30314815", "pmid:30247609", "pmid:30206564", "pmid:30206283", "pmid:30156935", "pmid:30156032", "pmid:30139231", "pmid:30120431", "pmid:30043577", "pmid:30019487", "pmid:30019104", "pmid:29914823", "pmid:29886316", "pmid:29809168", "pmid:29714466", "pmid:29706560", "pmid:29571584", "pmid:29556396", "pmid:29464380", "pmid:29364557", "pmid:29299905", "pmid:29249939", "pmid:28963363", "pmid:28915409", "pmid:28780536", "pmid:28585930", "pmid:28511915", "pmid:28367605", "pmid:28295444", "pmid:27873769", "pmid:27807533", "pmid:27669432", "pmid:27634944", "pmid:27517091", "pmid:27251588", "pmid:27193223", "pmid:27066582", "pmid:26872663", "pmid:26772404", "pmid:26691666", "pmid:26541420", "pmid:26511871", "pmid:26499105", "pmid:26410037", "pmid:26406407", "pmid:26355245", "pmid:26345963", "pmid:26298608", "pmid:26266536", "pmid:26246877", "pmid:26221130", "pmid:26043854", "pmid:25979597", "pmid:25925349", "pmid:25889790", "pmid:25828775", "pmid:25746115", "pmid:25665908", "pmid:25637315", "pmid:25536734", "pmid:25520876", "pmid:25514102", "pmid:25455261", "pmid:25230321", "pmid:25217983", "pmid:25148265", "pmid:25122660", "pmid:25078280", "pmid:25047668", "pmid:25027083", "pmid:24974051", "pmid:24966714", "pmid:24925673", "pmid:24925468", "pmid:24872216", "pmid:24824408", "pmid:24793825", "pmid:24742458", "pmid:24711544", "pmid:24691874", "pmid:24581183", "pmid:24566949", "pmid:24391916", "pmid:24274329", "pmid:24256885", "pmid:24200287", "pmid:24120273", "pmid:23799424", "pmid:23789051", "pmid:23732677", "pmid:23679084", "pmid:23545426", "pmid:23515294", "pmid:23467468", "pmid:23441776", "pmid:23388696", "pmid:23377847", "pmid:23364790", "pmid:23359804", "pmid:23272232", "pmid:23184046", "pmid:23167717", "pmid:23136466", "pmid:23062703", "pmid:22941760", "pmid:22819977", "pmid:22792352", "pmid:22765868", "pmid:22736030", "pmid:22731640", "pmid:22653589", "pmid:22652498", "pmid:24052720", "pmid:22333840", "pmid:22233359", "pmid:22107839", "pmid:22068615", "pmid:22038041", "pmid:22025404", "pmid:21977989", "pmid:21664238", "pmid:21643744", "pmid:21642359", "pmid:21486420", "pmid:21445561", "pmid:21410629", "pmid:21270324", "pmid:21247881", "pmid:21089003", "pmid:20880698", "pmid:20689246", "pmid:20425835", "pmid:20353269", "pmid:20233785", "pmid:20127024", "pmid:20063560", "pmid:19956434", "pmid:19818997", "pmid:19692580", "pmid:19684044", "pmid:19497852", "pmid:19482445", "pmid:19237573", "pmid:19228953", "pmid:19218788", "pmid:19211034", "pmid:19207614", "pmid:19100835", "pmid:19095061", "pmid:19062046", "pmid:18962445", "pmid:18783352", "pmid:18762554", "pmid:18645714", "pmid:18642379", "pmid:18624843", "pmid:18610651", "pmid:18592136", "pmid:18446630", "pmid:18365230", "pmid:18323476", "pmid:18222439", "pmid:18217192", "pmid:18191848", "pmid:18181049", "pmid:18097504", "pmid:17997416", "pmid:17984450", "pmid:17984063", "pmid:17979523", "pmid:17854832", "pmid:17852020", "pmid:17825390", "pmid:17635942", "pmid:17556727", "pmid:17507624", "pmid:17507457", "pmid:17465263", "pmid:17440439", "pmid:17431729", "pmid:17372242", "pmid:17321486", "pmid:17230529", "pmid:17161354", "pmid:17137601", "pmid:17027356", "pmid:16859836", "pmid:16847812", "pmid:16817826", "pmid:16813680", "pmid:16804045", "pmid:16793958", "pmid:16772330", "pmid:16696857", "pmid:16621916", "pmid:16515589", "pmid:16493814", "pmid:16462497", "pmid:16448271", "pmid:16437189", "pmid:16425097", "pmid:16403814", "pmid:16377095", "pmid:16365010", "pmid:16358333", "pmid:16299230", "pmid:16187285", "pmid:16117826", "pmid:16008071", "pmid:15956082", "pmid:15954500", "pmid:15952987", "pmid:15950642", "pmid:15876692", "pmid:15824176", "pmid:15747808", "pmid:15725470", "pmid:15721279", "pmid:15659427", "pmid:15609126", "pmid:15599941", "pmid:15570555", "pmid:15545219", "pmid:15472213", "pmid:15366384", "pmid:15358199", "pmid:15341991", "pmid:15310009", "pmid:15198988", "pmid:15146455", "pmid:15120698", "pmid:15044606", "pmid:15003169", "pmid:14974917", "pmid:14973115", "pmid:14731580", "pmid:14698481", "pmid:14693242", "pmid:14691592", "pmid:14674723", "pmid:14605819", "pmid:14585317", "pmid:14511217", "pmid:14506156", "pmid:12898143", "pmid:12860943", "pmid:12767946", "pmid:12755998", "pmid:12714591", "pmid:12670590", "pmid:12634316", "pmid:12632109", "pmid:12602915", "pmid:12542725", "pmid:12534937", "pmid:12478141", "pmid:12404104", "pmid:12388541", "pmid:12385020", "pmid:12376473", "pmid:12220434", "pmid:12189490", "pmid:12189162", "pmid:12085360", "pmid:12042281", "pmid:12031042", "pmid:11956643", "pmid:11935317", "pmid:11927493", "pmid:11894978", "pmid:11875046", "pmid:11847524", "pmid:11810651", "pmid:11809726", "pmid:11788641", "pmid:11721964", "pmid:11720249", "pmid:11701709", "pmid:11600555", "pmid:11571732", "pmid:11571725", "pmid:11550169", "pmid:11494335", "pmid:11473958", "pmid:11443190", "pmid:11368874", "pmid:11331662", "pmid:11330644", "pmid:11266016", "pmid:11259089", "pmid:11167027", "pmid:11121465", "pmid:11016637", "pmid:10999852", "pmid:10958659", "pmid:10956560", "pmid:10852984", "pmid:10821498", "pmid:10817350", "pmid:10794490", "pmid:10732798", "pmid:10732754", "pmid:10717532", "pmid:10717003", "pmid:10656235", "pmid:10643885", "pmid:10637497", "pmid:10617922", "pmid:10574254", "pmid:10564878", "pmid:10544298", "pmid:10486315", "pmid:10419869", "pmid:10400640", "pmid:10323251", "pmid:10234512", "pmid:9925917", "pmid:9886069", "pmid:9880240", "pmid:9815849", "pmid:9813160", "pmid:9761394", "pmid:9732460", "pmid:9731888", "pmid:9692387", "pmid:9677254", "pmid:9580659", "pmid:9499423", "pmid:9382110", "pmid:9270598", "pmid:9094973", "pmid:9020849", "pmid:8960833", "pmid:8954049", "pmid:8878435", "pmid:8737374", "pmid:8926495", "pmid:8807333", "pmid:8645957", "pmid:7772520", "pmid:7757084", "pmid:7719348", "pmid:8065934", "pmid:7951325", "pmid:7515106", "pmid:8232348", "pmid:1461383", "pmid:1734865"]
+ "additional_literature": ["pmid:42239750", "pmid:42196324", "pmid:42138244", "pmid:42070078", "pmid:42067676", "pmid:41762523", "pmid:41564929", "pmid:41552385", "pmid:41513898", "pmid:41361869", "pmid:41246945", "pmid:40912964", "pmid:40614362", "pmid:40585427", "pmid:40488202", "pmid:40450087", "pmid:40371721", "pmid:40366765", "pmid:40031964", "pmid:39755011", "pmid:39729861", "pmid:39694906", "pmid:39570490", "pmid:39189540", "pmid:39140081", "pmid:38976730", "pmid:38860410", "pmid:38737445", "pmid:38701087", "pmid:38585669", "pmid:38284836", "pmid:38171945", "pmid:37936145", "pmid:37718889", "pmid:37715620", "pmid:37422780", "pmid:37269008", "pmid:37045687", "pmid:36988133", "pmid:36717478", "pmid:36701310", "pmid:36622568", "pmid:36599645", "pmid:36585400", "pmid:36142533", "pmid:36137740", "pmid:35982373", "pmid:35876459", "pmid:35872088", "pmid:35867854", "pmid:35661131", "pmid:35599735", "pmid:35571498", "pmid:35237894", "pmid:35230239", "pmid:35189449", "pmid:35182509", "pmid:35165376", "pmid:34914563", "pmid:34744823", "pmid:34723064", "pmid:34407295", "pmid:34390226", "pmid:34372915", "pmid:34006154", "pmid:33865179", "pmid:33738134", "pmid:33714752", "pmid:33261594", "pmid:33191626", "pmid:32989102", "pmid:32856855", "pmid:32468478", "pmid:32216057", "pmid:32166698", "pmid:32152060", "pmid:32070397", "pmid:31901908", "pmid:31522753", "pmid:31446215", "pmid:31303548", "pmid:31179189", "pmid:31040020", "pmid:31030566", "pmid:31019916", "pmid:30940675", "pmid:30886222", "pmid:30838350", "pmid:30837566", "pmid:30615214", "pmid:30612224", "pmid:30415810", "pmid:30351503", "pmid:30314815", "pmid:30247609", "pmid:30206564", "pmid:30206283", "pmid:30156935", "pmid:30156032", "pmid:30139231", "pmid:30120431", "pmid:30043577", "pmid:30019487", "pmid:30019104", "pmid:29914823", "pmid:29886316", "pmid:29809168", "pmid:29714466", "pmid:29706560", "pmid:29571584", "pmid:29556396", "pmid:29464380", "pmid:29364557", "pmid:29299905", "pmid:29249939", "pmid:28963363", "pmid:28915409", "pmid:28780536", "pmid:28585930", "pmid:28511915", "pmid:28367605", "pmid:28295444", "pmid:27873769", "pmid:27807533", "pmid:27669432", "pmid:27634944", "pmid:27517091", "pmid:27251588", "pmid:27193223", "pmid:27066582", "pmid:26872663", "pmid:26772404", "pmid:26691666", "pmid:26541420", "pmid:26511871", "pmid:26499105", "pmid:26410037", "pmid:26406407", "pmid:26355245", "pmid:26345963", "pmid:26298608", "pmid:26266536", "pmid:26246877", "pmid:26221130", "pmid:26043854", "pmid:25979597", "pmid:25925349", "pmid:25889790", "pmid:25828775", "pmid:25746115", "pmid:25665908", "pmid:25637315", "pmid:25536734", "pmid:25520876", "pmid:25514102", "pmid:25455261", "pmid:25230321", "pmid:25217983", "pmid:25148265", "pmid:25122660", "pmid:25078280", "pmid:25047668", "pmid:25027083", "pmid:24974051", "pmid:24966714", "pmid:24925673", "pmid:24925468", "pmid:24872216", "pmid:24824408", "pmid:24793825", "pmid:24742458", "pmid:24711544", "pmid:24691874", "pmid:24581183", "pmid:24566949", "pmid:24391916", "pmid:24274329", "pmid:24256885", "pmid:24200287", "pmid:24120273", "pmid:23799424", "pmid:23789051", "pmid:23732677", "pmid:23679084", "pmid:23545426", "pmid:23515294", "pmid:23467468", "pmid:23441776", "pmid:23388696", "pmid:23377847", "pmid:23364790", "pmid:23359804", "pmid:23272232", "pmid:23184046", "pmid:23167717", "pmid:23136466", "pmid:23062703", "pmid:22941760", "pmid:22819977", "pmid:22792352", "pmid:22765868", "pmid:22736030", "pmid:22731640", "pmid:22653589", "pmid:22652498", "pmid:24052720", "pmid:22333840", "pmid:22233359", "pmid:22107839", "pmid:22068615", "pmid:22038041", "pmid:22025404", "pmid:21977989", "pmid:21664238", "pmid:21643744", "pmid:21642359", "pmid:21486420", "pmid:21445561", "pmid:21410629", "pmid:21270324", "pmid:21247881", "pmid:21089003", "pmid:20880698", "pmid:20689246", "pmid:20425835", "pmid:20353269", "pmid:20233785", "pmid:20127024", "pmid:20063560", "pmid:19956434", "pmid:19818997", "pmid:19692580", "pmid:19684044", "pmid:19497852", "pmid:19482445", "pmid:19237573", "pmid:19228953", "pmid:19218788", "pmid:19211034", "pmid:19207614", "pmid:19100835", "pmid:19095061", "pmid:19062046", "pmid:18962445", "pmid:18783352", "pmid:18762554", "pmid:18645714", "pmid:18642379", "pmid:18624843", "pmid:18610651", "pmid:18592136", "pmid:18446630", "pmid:18365230", "pmid:18323476", "pmid:18222439", "pmid:18217192", "pmid:18191848", "pmid:18181049", "pmid:18097504", "pmid:17997416", "pmid:17984450", "pmid:17984063", "pmid:17979523", "pmid:17854832", "pmid:17852020", "pmid:17825390", "pmid:17635942", "pmid:17556727", "pmid:17507624", "pmid:17507457", "pmid:17465263", "pmid:17440439", "pmid:17431729", "pmid:17372242", "pmid:17321486", "pmid:17230529", "pmid:17161354", "pmid:17137601", "pmid:17027356", "pmid:16859836", "pmid:16847812", "pmid:16817826", "pmid:16813680", "pmid:16804045", "pmid:16793958", "pmid:16772330", "pmid:16696857", "pmid:16621916", "pmid:16515589", "pmid:16493814", "pmid:16462497", "pmid:16448271", "pmid:16437189", "pmid:16425097", "pmid:16403814", "pmid:16377095", "pmid:16365010", "pmid:16358333", "pmid:16299230", "pmid:16187285", "pmid:16117826", "pmid:16008071", "pmid:15956082", "pmid:15954500", "pmid:15952987", "pmid:15950642", "pmid:15876692", "pmid:15824176", "pmid:15747808", "pmid:15725470", "pmid:15721279", "pmid:15659427", "pmid:15609126", "pmid:15599941", "pmid:15570555", "pmid:15545219", "pmid:15472213", "pmid:15366384", "pmid:15358199", "pmid:15341991", "pmid:15310009", "pmid:15198988", "pmid:15146455", "pmid:15120698", "pmid:15044606", "pmid:15003169", "pmid:14974917", "pmid:14973115", "pmid:14731580", "pmid:14698481", "pmid:14693242", "pmid:14691592", "pmid:14674723", "pmid:14605819", "pmid:14585317", "pmid:14511217", "pmid:14506156", "pmid:12898143", "pmid:12860943", "pmid:12767946", "pmid:12755998", "pmid:12714591", "pmid:12670590", "pmid:12634316", "pmid:12632109", "pmid:12602915", "pmid:12542725", "pmid:12534937", "pmid:12478141", "pmid:12404104", "pmid:12388541", "pmid:12385020", "pmid:12376473", "pmid:12220434", "pmid:12189490", "pmid:12189162", "pmid:12085360", "pmid:12042281", "pmid:12031042", "pmid:11956643", "pmid:11935317", "pmid:11927493", "pmid:11894978", "pmid:11875046", "pmid:11847524", "pmid:11810651", "pmid:11809726", "pmid:11788641", "pmid:11721964", "pmid:11720249", "pmid:11701709", "pmid:11600555", "pmid:11571732", "pmid:11571725", "pmid:11550169", "pmid:11494335", "pmid:11473958", "pmid:11443190", "pmid:11368874", "pmid:11331662", "pmid:11330644", "pmid:11266016", "pmid:11259089", "pmid:11167027", "pmid:11121465", "pmid:11016637", "pmid:10999852", "pmid:10958659", "pmid:10956560", "pmid:10852984", "pmid:10821498", "pmid:10817350", "pmid:10794490", "pmid:10732798", "pmid:10732754", "pmid:10717532", "pmid:10717003", "pmid:10656235", "pmid:10643885", "pmid:10637497", "pmid:10617922", "pmid:10574254", "pmid:10564878", "pmid:10544298", "pmid:10486315", "pmid:10419869", "pmid:10400640", "pmid:10323251", "pmid:10234512", "pmid:9925917", "pmid:9886069", "pmid:9880240", "pmid:9815849", "pmid:9813160", "pmid:9761394", "pmid:9732460", "pmid:9731888", "pmid:9692387", "pmid:9677254", "pmid:9580659", "pmid:9499423", "pmid:9382110", "pmid:9270598", "pmid:9094973", "pmid:9020849", "pmid:8960833", "pmid:8954049", "pmid:8878435", "pmid:8737374", "pmid:8926495", "pmid:8807333", "pmid:8645957", "pmid:7772520", "pmid:7757084", "pmid:7719348", "pmid:8065934", "pmid:7951325", "pmid:7515106", "pmid:8232348", "pmid:1461383", "pmid:1734865"]
},
{
"id": "EIEE1_ARX",
@@ -466,7 +466,7 @@
"locus_tags": ["anticipation", "somatic_instability", "paternal_expansion", "length_affects_onset", "length_affects_severity", "length_affects_phenotype"],
"disease_tags": ["ataxia", "epilepsy"],
"references": ["pmid:6808417", "genereviews:NBK1491", "pmid:11160976", "pmid:35245110", "pmid:41147955", "pmid:7842016", "mondo:0007435"],
- "additional_literature": ["pmid:42196324", "pmid:41624332", "pmid:41355374", "pmid:41254939", "pmid:41082794", "pmid:40832356", "pmid:40488180", "pmid:40450087", "pmid:40340521", "pmid:40298952", "pmid:40263757", "pmid:40237283", "pmid:39820777", "pmid:39812846", "pmid:39742457", "pmid:39224955", "pmid:38961870", "pmid:38227102", "pmid:38152578", "pmid:37243799", "pmid:36599645", "pmid:36530930", "pmid:35182509", "pmid:34968706", "pmid:34022586", "pmid:33106889", "pmid:32711193", "pmid:32675418", "pmid:32129252", "pmid:31493762", "pmid:30891880", "pmid:30827498", "pmid:30615214", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29715545", "pmid:29249939", "pmid:28782341", "pmid:28585930", "pmid:27896316", "pmid:27400454", "pmid:26374734", "pmid:26077168", "pmid:25842919", "pmid:25466696", "pmid:24972706", "pmid:24534762", "pmid:23933208", "pmid:23364790", "pmid:23263592", "pmid:23026538", "pmid:22527233", "pmid:22520093", "pmid:22342974", "pmid:22297462", "pmid:21108634", "pmid:20589872", "pmid:19429075", "pmid:19370769", "pmid:19259763", "pmid:19039037", "pmid:18182848", "pmid:17965145", "pmid:17961920", "pmid:17420317", "pmid:16967484", "pmid:16858508", "pmid:16251216", "pmid:16199124", "pmid:15553088", "pmid:15223312", "pmid:15148151", "pmid:15133824", "pmid:14756671", "pmid:12925365", "pmid:12805114", "pmid:12764052", "pmid:12614315", "pmid:12235319", "pmid:12042281", "pmid:11939898", "pmid:11807410", "pmid:11711886", "pmid:11709002", "pmid:11689158", "pmid:11574112", "pmid:11198291", "pmid:10942107", "pmid:10894992", "pmid:10814707", "pmid:10768629", "pmid:10766906", "pmid:10677044", "pmid:10564878", "pmid:10515170", "pmid:10486315", "pmid:10453742", "pmid:10332026", "pmid:10085113", "pmid:10084125", "pmid:9949204", "pmid:9887337", "pmid:9758625", "pmid:9705838", "pmid:9696528", "pmid:9647693", "pmid:9613852", "pmid:9507387", "pmid:9462738", "pmid:9385362", "pmid:9361003", "pmid:9187480", "pmid:9124808", "pmid:9109905", "pmid:9106530", "pmid:9050922", "pmid:9020849", "pmid:8962095", "pmid:9001798", "pmid:8651298", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8852663", "pmid:8926495", "pmid:8559378", "pmid:8557266", "pmid:7633415", "pmid:7868125", "pmid:7824105", "pmid:7885531", "pmid:8136840", "pmid:8136826", "pmid:7734112"]
+ "additional_literature": ["pmid:42359808", "pmid:42196324", "pmid:41624332", "pmid:41355374", "pmid:41254939", "pmid:41082794", "pmid:40832356", "pmid:40488180", "pmid:40450087", "pmid:40340521", "pmid:40298952", "pmid:40263757", "pmid:40237283", "pmid:39820777", "pmid:39812846", "pmid:39742457", "pmid:39224955", "pmid:38961870", "pmid:38227102", "pmid:38152578", "pmid:37243799", "pmid:36599645", "pmid:36530930", "pmid:35182509", "pmid:34968706", "pmid:34022586", "pmid:33106889", "pmid:32711193", "pmid:32675418", "pmid:32129252", "pmid:31493762", "pmid:30891880", "pmid:30827498", "pmid:30615214", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29715545", "pmid:29249939", "pmid:28782341", "pmid:28585930", "pmid:27896316", "pmid:27400454", "pmid:26374734", "pmid:26077168", "pmid:25842919", "pmid:25466696", "pmid:24972706", "pmid:24534762", "pmid:23933208", "pmid:23364790", "pmid:23263592", "pmid:23026538", "pmid:22527233", "pmid:22520093", "pmid:22342974", "pmid:22297462", "pmid:21108634", "pmid:20589872", "pmid:19429075", "pmid:19370769", "pmid:19259763", "pmid:19039037", "pmid:18182848", "pmid:17965145", "pmid:17961920", "pmid:17420317", "pmid:16967484", "pmid:16858508", "pmid:16251216", "pmid:16199124", "pmid:15553088", "pmid:15223312", "pmid:15148151", "pmid:15133824", "pmid:14756671", "pmid:12925365", "pmid:12805114", "pmid:12764052", "pmid:12614315", "pmid:12235319", "pmid:12042281", "pmid:11939898", "pmid:11807410", "pmid:11711886", "pmid:11709002", "pmid:11689158", "pmid:11574112", "pmid:11198291", "pmid:10942107", "pmid:10894992", "pmid:10814707", "pmid:10768629", "pmid:10766906", "pmid:10677044", "pmid:10564878", "pmid:10515170", "pmid:10486315", "pmid:10453742", "pmid:10332026", "pmid:10085113", "pmid:10084125", "pmid:9949204", "pmid:9887337", "pmid:9758625", "pmid:9705838", "pmid:9696528", "pmid:9647693", "pmid:9613852", "pmid:9507387", "pmid:9462738", "pmid:9385362", "pmid:9361003", "pmid:9187480", "pmid:9124808", "pmid:9109905", "pmid:9106530", "pmid:9050922", "pmid:9020849", "pmid:8962095", "pmid:9001798", "pmid:8651298", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8852663", "pmid:8926495", "pmid:8559378", "pmid:8557266", "pmid:7633415", "pmid:7868125", "pmid:7824105", "pmid:7885531", "pmid:8136840", "pmid:8136826", "pmid:7734112"]
},
{
"id": "SCA1_ATXN1",
@@ -600,7 +600,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "motif_affects_instability", "motif_affects_penetrance", "motif_affects_phenotype"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1175", "pmid:38467784", "pmid:36199580", "pmid:19234597", "pmid:24318420", "pmid:41229449", "pmid:36092952", "pmid:11017075", "mondo:0011330"],
- "additional_literature": ["pmid:41229449", "pmid:41074692", "pmid:40900235", "pmid:40898875", "pmid:40488180", "pmid:40067487", "pmid:39820777", "pmid:38961870", "pmid:38832639", "pmid:35103298", "pmid:34970537", "pmid:33502644", "pmid:32520333", "pmid:32160188", "pmid:31737797", "pmid:31445906", "pmid:31342269", "pmid:29922950", "pmid:29316893", "pmid:28890930", "pmid:28423040", "pmid:27248057", "pmid:26374734", "pmid:26295943", "pmid:26077168", "pmid:26039897", "pmid:25466696", "pmid:24278426", "pmid:24269018", "pmid:23443018", "pmid:23083689", "pmid:23026538", "pmid:22065565", "pmid:22053702", "pmid:21282659", "pmid:20065034", "pmid:19651850", "pmid:19306311", "pmid:19171184", "pmid:19147916", "pmid:17961920", "pmid:17846122", "pmid:16924013", "pmid:16498633", "pmid:16385455", "pmid:15505178", "pmid:15201271", "pmid:15148151", "pmid:15096564", "pmid:12764052", "pmid:12589756", "pmid:11839840", "pmid:11160961", "pmid:9973298"]
+ "additional_literature": ["pmid:42320256", "pmid:41074692", "pmid:40900235", "pmid:40898875", "pmid:40488180", "pmid:40067487", "pmid:39820777", "pmid:38961870", "pmid:38832639", "pmid:35103298", "pmid:34970537", "pmid:33502644", "pmid:32520333", "pmid:32160188", "pmid:31737797", "pmid:31445906", "pmid:31342269", "pmid:29922950", "pmid:29316893", "pmid:28890930", "pmid:28423040", "pmid:27248057", "pmid:26374734", "pmid:26295943", "pmid:26077168", "pmid:26039897", "pmid:25466696", "pmid:24278426", "pmid:24269018", "pmid:23443018", "pmid:23083689", "pmid:23026538", "pmid:22065565", "pmid:22053702", "pmid:21282659", "pmid:20065034", "pmid:19651850", "pmid:19306311", "pmid:19171184", "pmid:19147916", "pmid:17961920", "pmid:17846122", "pmid:16924013", "pmid:16498633", "pmid:16385455", "pmid:15505178", "pmid:15201271", "pmid:15148151", "pmid:15096564", "pmid:12764052", "pmid:12589756", "pmid:11839840", "pmid:11160961", "pmid:9973298"]
},
{
"id": "SCA2_ATXN2",
@@ -667,7 +667,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "maternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_phenotype", "proposed_modifier"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1275", "omim:183090", "pmid:37906407", "pmid:12116207", "pmid:30533529", "pmid:25285812", "pmid:32954321", "pmid:39956874", "pmid:29100084", "pmid:8896556", "mondo:0008458"],
- "additional_literature": ["pmid:42204920", "pmid:42196324", "pmid:42096001", "pmid:42087256", "pmid:42019185", "pmid:41912844", "pmid:41876820", "pmid:41771688", "pmid:41728197", "pmid:41693683", "pmid:41683965", "pmid:41630926", "pmid:41435767", "pmid:41426430", "pmid:41373690", "pmid:41359433", "pmid:41310328", "pmid:41298695", "pmid:41196070", "pmid:41149812", "pmid:41082794", "pmid:41077586", "pmid:41071260", "pmid:41009775", "pmid:41001200", "pmid:40908144", "pmid:40906330", "pmid:40900235", "pmid:40746751", "pmid:40684213", "pmid:40556342", "pmid:40488180", "pmid:40346885", "pmid:40220918", "pmid:40004498", "pmid:39940702", "pmid:39820777", "pmid:39812846", "pmid:39804470", "pmid:39571249", "pmid:39521966", "pmid:39512795", "pmid:39457708", "pmid:39420034", "pmid:39317855", "pmid:39209824", "pmid:39200113", "pmid:39048885", "pmid:39004246", "pmid:38961870", "pmid:38715656", "pmid:38667292", "pmid:38642323", "pmid:38626762", "pmid:38585669", "pmid:38419144", "pmid:38397958", "pmid:38340219", "pmid:38239855", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37821389", "pmid:37397792", "pmid:37379724", "pmid:37202167", "pmid:37146135", "pmid:37070044", "pmid:37043475", "pmid:37003406", "pmid:36894829", "pmid:36823368", "pmid:36618024", "pmid:36530930", "pmid:36209056", "pmid:36008116", "pmid:35989899", "pmid:35962273", "pmid:35869263", "pmid:35787375", "pmid:35599735", "pmid:35525134", "pmid:35521889", "pmid:35297556", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34565721", "pmid:34430069", "pmid:34390268", "pmid:34372915", "pmid:34350994", "pmid:34298214", "pmid:34284285", "pmid:34179866", "pmid:34168085", "pmid:34159894", "pmid:34077532", "pmid:33688396", "pmid:33625581", "pmid:33548146", "pmid:33502644", "pmid:33414559", "pmid:33377399", "pmid:33284045", "pmid:33159825", "pmid:33115537", "pmid:33070405", "pmid:33058338", "pmid:33029780", "pmid:32989102", "pmid:32932600", "pmid:32870233", "pmid:32822634", "pmid:32340607", "pmid:32307524", "pmid:32124191", "pmid:32082115", "pmid:31940111", "pmid:31898278", "pmid:31812845", "pmid:31810584", "pmid:31766565", "pmid:31619481", "pmid:31522753", "pmid:31432357", "pmid:31343735", "pmid:30920184", "pmid:30891880", "pmid:30847648", "pmid:30615214", "pmid:30611021", "pmid:30591349", "pmid:30417124", "pmid:30342765", "pmid:30342763", "pmid:30314815", "pmid:30196130", "pmid:30123518", "pmid:30120431", "pmid:29959555", "pmid:29934271", "pmid:29895397", "pmid:29848387", "pmid:29801887", "pmid:29801076", "pmid:29756284", "pmid:29715545", "pmid:29666341", "pmid:29665996", "pmid:29553382", "pmid:29497168", "pmid:29468174", "pmid:29462666", "pmid:29249939", "pmid:29080331", "pmid:29057148", "pmid:29046994", "pmid:28923333", "pmid:28782341", "pmid:28642336", "pmid:28585930", "pmid:28534046", "pmid:30363439", "pmid:28527524", "pmid:28525545", "pmid:28444220", "pmid:28263872", "pmid:28124431", "pmid:28017238", "pmid:27896316", "pmid:27848087", "pmid:27774050", "pmid:27531668", "pmid:27333979", "pmid:27245636", "pmid:26846400", "pmid:26777436", "pmid:26733254", "pmid:26599997", "pmid:26551617", "pmid:26377379", "pmid:26374734", "pmid:26362908", "pmid:26354989", "pmid:26095883", "pmid:26086378", "pmid:26077168", "pmid:26054379", "pmid:25893506", "pmid:25790475", "pmid:25721894", "pmid:25634432", "pmid:25527265", "pmid:25466696", "pmid:25189938", "pmid:25189117", "pmid:25111021", "pmid:25098532", "pmid:24972706", "pmid:24908169", "pmid:24866401", "pmid:24780882", "pmid:24780439", "pmid:24718895", "pmid:24534762", "pmid:24269018", "pmid:24209901", "pmid:23959108", "pmid:23844332", "pmid:23635656", "pmid:23634774", "pmid:23368522", "pmid:23197749", "pmid:23047744", "pmid:23026538", "pmid:22868089", "pmid:22831947", "pmid:22650353", "pmid:22520093", "pmid:22507827", "pmid:22425256", "pmid:22297462", "pmid:22053702", "pmid:22035589", "pmid:21889984", "pmid:21880993", "pmid:21832228", "pmid:21741123", "pmid:21610160", "pmid:21600833", "pmid:21562247", "pmid:21537950", "pmid:21479228", "pmid:21329459", "pmid:20960485", "pmid:20740007", "pmid:20095980", "pmid:20070987", "pmid:20069235", "pmid:22353486", "pmid:19676102", "pmid:19672991", "pmid:19473475", "pmid:19429075", "pmid:19049837", "pmid:18990604", "pmid:18759344", "pmid:18685131", "pmid:18418678", "pmid:18297329", "pmid:18182848", "pmid:18028243", "pmid:17961920", "pmid:17923635", "pmid:17712857", "pmid:17620498", "pmid:17568014", "pmid:17440947", "pmid:17420317", "pmid:16687213", "pmid:16436644", "pmid:16389595", "pmid:16000334", "pmid:15911147", "pmid:15747371", "pmid:22473187", "pmid:15553088", "pmid:15533937", "pmid:15504570", "pmid:15300851", "pmid:15265035", "pmid:15148151", "pmid:15133829", "pmid:15080863", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14732617", "pmid:12853230", "pmid:12812977", "pmid:12810491", "pmid:12764052", "pmid:12682323", "pmid:12671950", "pmid:12614315", "pmid:12490063", "pmid:12235319", "pmid:12039668", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11719273", "pmid:11689490", "pmid:11591855", "pmid:11502947", "pmid:11448300", "pmid:11374096", "pmid:11160961", "pmid:10369884", "pmid:11030803", "pmid:11030410", "pmid:10953195", "pmid:10942107", "pmid:10915763", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10642945", "pmid:10573020", "pmid:10525984", "pmid:10525976", "pmid:10453742", "pmid:10219787", "pmid:10210910", "pmid:10050970", "pmid:9973298", "pmid:9855520", "pmid:9779806", "pmid:9776463", "pmid:9762957", "pmid:9758625", "pmid:9748675", "pmid:9741408", "pmid:9710044", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9588855", "pmid:9577387", "pmid:9549522", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9403486", "pmid:9403480", "pmid:9339711", "pmid:9339681", "pmid:9259275", "pmid:9225982", "pmid:10735276", "pmid:9106530", "pmid:9020849", "pmid:10464657", "pmid:8968739", "pmid:8896557", "pmid:8896555", "pmid:8559378", "pmid:7477379", "pmid:7762567"]
+ "additional_literature": ["pmid:42204920", "pmid:42196324", "pmid:42096001", "pmid:42087256", "pmid:42060068", "pmid:42019185", "pmid:41912844", "pmid:41876820", "pmid:41771688", "pmid:41728197", "pmid:41693683", "pmid:41683965", "pmid:41630926", "pmid:41435767", "pmid:41426430", "pmid:41373690", "pmid:41359433", "pmid:41310328", "pmid:41298695", "pmid:41196070", "pmid:41149812", "pmid:41082794", "pmid:41077586", "pmid:41071260", "pmid:41009775", "pmid:41001200", "pmid:40908144", "pmid:40906330", "pmid:40900235", "pmid:40746751", "pmid:40684213", "pmid:40556342", "pmid:40488180", "pmid:40346885", "pmid:40220918", "pmid:40004498", "pmid:39940702", "pmid:39820777", "pmid:39812846", "pmid:39804470", "pmid:39571249", "pmid:39521966", "pmid:39512795", "pmid:39457708", "pmid:39420034", "pmid:39317855", "pmid:39209824", "pmid:39200113", "pmid:39048885", "pmid:39004246", "pmid:38961870", "pmid:38715656", "pmid:38667292", "pmid:38642323", "pmid:38626762", "pmid:38585669", "pmid:38419144", "pmid:38397958", "pmid:38340219", "pmid:38239855", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37821389", "pmid:37397792", "pmid:37379724", "pmid:37202167", "pmid:37146135", "pmid:37070044", "pmid:37043475", "pmid:37003406", "pmid:36894829", "pmid:36823368", "pmid:36618024", "pmid:36530930", "pmid:36209056", "pmid:36008116", "pmid:35989899", "pmid:35962273", "pmid:35869263", "pmid:35787375", "pmid:35599735", "pmid:35525134", "pmid:35521889", "pmid:35297556", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34565721", "pmid:34430069", "pmid:34390268", "pmid:34372915", "pmid:34350994", "pmid:34298214", "pmid:34284285", "pmid:34179866", "pmid:34168085", "pmid:34159894", "pmid:34077532", "pmid:33688396", "pmid:33625581", "pmid:33548146", "pmid:33502644", "pmid:33414559", "pmid:33377399", "pmid:33284045", "pmid:33159825", "pmid:33115537", "pmid:33070405", "pmid:33058338", "pmid:33029780", "pmid:32989102", "pmid:32932600", "pmid:32870233", "pmid:32822634", "pmid:32340607", "pmid:32307524", "pmid:32124191", "pmid:32082115", "pmid:31940111", "pmid:31898278", "pmid:31812845", "pmid:31810584", "pmid:31766565", "pmid:31619481", "pmid:31522753", "pmid:31432357", "pmid:31343735", "pmid:30920184", "pmid:30891880", "pmid:30847648", "pmid:30615214", "pmid:30611021", "pmid:30591349", "pmid:30417124", "pmid:30342765", "pmid:30342763", "pmid:30314815", "pmid:30196130", "pmid:30123518", "pmid:30120431", "pmid:29959555", "pmid:29934271", "pmid:29895397", "pmid:29848387", "pmid:29801887", "pmid:29801076", "pmid:29756284", "pmid:29715545", "pmid:29666341", "pmid:29665996", "pmid:29553382", "pmid:29497168", "pmid:29468174", "pmid:29462666", "pmid:29249939", "pmid:29080331", "pmid:29057148", "pmid:29046994", "pmid:28923333", "pmid:28782341", "pmid:28642336", "pmid:28585930", "pmid:28534046", "pmid:30363439", "pmid:28527524", "pmid:28525545", "pmid:28444220", "pmid:28263872", "pmid:28124431", "pmid:28017238", "pmid:27896316", "pmid:27848087", "pmid:27774050", "pmid:27531668", "pmid:27333979", "pmid:27245636", "pmid:26846400", "pmid:26777436", "pmid:26733254", "pmid:26599997", "pmid:26551617", "pmid:26377379", "pmid:26374734", "pmid:26362908", "pmid:26354989", "pmid:26095883", "pmid:26086378", "pmid:26077168", "pmid:26054379", "pmid:25893506", "pmid:25790475", "pmid:25721894", "pmid:25634432", "pmid:25527265", "pmid:25466696", "pmid:25189938", "pmid:25189117", "pmid:25111021", "pmid:25098532", "pmid:24972706", "pmid:24908169", "pmid:24866401", "pmid:24780882", "pmid:24780439", "pmid:24718895", "pmid:24534762", "pmid:24269018", "pmid:24209901", "pmid:23959108", "pmid:23844332", "pmid:23635656", "pmid:23634774", "pmid:23368522", "pmid:23197749", "pmid:23047744", "pmid:23026538", "pmid:22868089", "pmid:22831947", "pmid:22650353", "pmid:22520093", "pmid:22507827", "pmid:22425256", "pmid:22297462", "pmid:22053702", "pmid:22035589", "pmid:21889984", "pmid:21880993", "pmid:21832228", "pmid:21741123", "pmid:21610160", "pmid:21600833", "pmid:21562247", "pmid:21537950", "pmid:21479228", "pmid:21329459", "pmid:20960485", "pmid:20740007", "pmid:20095980", "pmid:20070987", "pmid:20069235", "pmid:22353486", "pmid:19676102", "pmid:19672991", "pmid:19473475", "pmid:19429075", "pmid:19049837", "pmid:18990604", "pmid:18759344", "pmid:18685131", "pmid:18418678", "pmid:18297329", "pmid:18182848", "pmid:18028243", "pmid:17961920", "pmid:17923635", "pmid:17712857", "pmid:17620498", "pmid:17568014", "pmid:17440947", "pmid:17420317", "pmid:16687213", "pmid:16436644", "pmid:16389595", "pmid:16000334", "pmid:15911147", "pmid:15747371", "pmid:22473187", "pmid:15553088", "pmid:15533937", "pmid:15504570", "pmid:15300851", "pmid:15265035", "pmid:15148151", "pmid:15133829", "pmid:15080863", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14732617", "pmid:12853230", "pmid:12812977", "pmid:12810491", "pmid:12764052", "pmid:12682323", "pmid:12671950", "pmid:12614315", "pmid:12490063", "pmid:12235319", "pmid:12039668", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11719273", "pmid:11689490", "pmid:11591855", "pmid:11502947", "pmid:11448300", "pmid:11374096", "pmid:11160961", "pmid:10369884", "pmid:11030803", "pmid:11030410", "pmid:10953195", "pmid:10942107", "pmid:10915763", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10642945", "pmid:10573020", "pmid:10525984", "pmid:10525976", "pmid:10453742", "pmid:10219787", "pmid:10210910", "pmid:10050970", "pmid:9973298", "pmid:9855520", "pmid:9779806", "pmid:9776463", "pmid:9762957", "pmid:9758625", "pmid:9748675", "pmid:9741408", "pmid:9710044", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9588855", "pmid:9577387", "pmid:9549522", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9403486", "pmid:9403480", "pmid:9339711", "pmid:9339681", "pmid:9259275", "pmid:9225982", "pmid:10735276", "pmid:9106530", "pmid:9020849", "pmid:10464657", "pmid:8968739", "pmid:8896557", "pmid:8896555", "pmid:8559378", "pmid:7477379", "pmid:7762567"]
},
{
"id": "SCA3_ATXN3",
@@ -734,7 +734,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "length_affects_severity"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["genereviews:NBK1196", "pmid:40004498", "pmid:30414314", "pmid:36169768", "pmid:37906407", "pmid:35245110", "pmid:39731318", "pmid:39699045", "pmid:29100084", "genereviews:NBK557816", "pmid:7874163", "mondo:0007182", "pmid:40684213"],
- "additional_literature": ["pmid:42191105", "pmid:42105168", "pmid:42096001", "pmid:41854058", "pmid:41853947", "pmid:41818480", "pmid:41771688", "pmid:41736717", "pmid:41713739", "pmid:41701293", "pmid:41613623", "pmid:41612618", "pmid:41552385", "pmid:41435767", "pmid:41358280", "pmid:41082794", "pmid:41058593", "pmid:41009775", "pmid:41001200", "pmid:40906330", "pmid:40900235", "pmid:40890629", "pmid:40880681", "pmid:40797466", "pmid:40754098", "pmid:40738252", "pmid:40692435", "pmid:40635703", "pmid:40488202", "pmid:40488180", "pmid:40450087", "pmid:40204795", "pmid:40178277", "pmid:40152810", "pmid:39987589", "pmid:39921113", "pmid:39820777", "pmid:39571249", "pmid:39516744", "pmid:39456985", "pmid:39375222", "pmid:39317855", "pmid:39298485", "pmid:39229124", "pmid:39125643", "pmid:39088078", "pmid:39048885", "pmid:38961870", "pmid:38900277", "pmid:38626762", "pmid:38513302", "pmid:38449714", "pmid:38443995", "pmid:38429929", "pmid:38291334", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37961108", "pmid:37866221", "pmid:37848721", "pmid:37830620", "pmid:37830611", "pmid:37735371", "pmid:37397792", "pmid:37379724", "pmid:37333326", "pmid:37215811", "pmid:37122622", "pmid:37003406", "pmid:36907537", "pmid:36891289", "pmid:36875652", "pmid:36733922", "pmid:36618024", "pmid:36530930", "pmid:36482247", "pmid:36250694", "pmid:35997830", "pmid:35962273", "pmid:35952620", "pmid:35851059", "pmid:35847233", "pmid:35426475", "pmid:35421843", "pmid:35406787", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:35042771", "pmid:34783886", "pmid:34716557", "pmid:34706018", "pmid:34565721", "pmid:34473252", "pmid:34430069", "pmid:34284285", "pmid:34191270", "pmid:34167352", "pmid:34160773", "pmid:34159894", "pmid:34087977", "pmid:33893204", "pmid:33782863", "pmid:33743045", "pmid:33502644", "pmid:33468086", "pmid:33413375", "pmid:33371889", "pmid:33159825", "pmid:33157084", "pmid:33087504", "pmid:33058338", "pmid:32978817", "pmid:32822634", "pmid:32729243", "pmid:32205441", "pmid:31934455", "pmid:31920494", "pmid:31783119", "pmid:31687087", "pmid:31616370", "pmid:31565539", "pmid:31394429", "pmid:31374463", "pmid:31310802", "pmid:31230722", "pmid:30920184", "pmid:30891880", "pmid:30833927", "pmid:30804982", "pmid:30685895", "pmid:30615214", "pmid:30591349", "pmid:30554804", "pmid:30314815", "pmid:30231063", "pmid:30125433", "pmid:30120431", "pmid:30008965", "pmid:29959555", "pmid:29936336", "pmid:29922950", "pmid:29881950", "pmid:29852360", "pmid:29801869", "pmid:29737427", "pmid:29666341", "pmid:29553382", "pmid:29497168", "pmid:29444500", "pmid:29249939", "pmid:29057148", "pmid:28854700", "pmid:28782341", "pmid:28624196", "pmid:28585930", "pmid:28444220", "pmid:28158474", "pmid:28065793", "pmid:27942452", "pmid:27896316", "pmid:27848087", "pmid:27847820", "pmid:27596958", "pmid:27774050", "pmid:27731380", "pmid:27600091", "pmid:27333979", "pmid:26615955", "pmid:26601773", "pmid:26505994", "pmid:26467707", "pmid:26377379", "pmid:26374734", "pmid:26362908", "pmid:26354989", "pmid:26336829", "pmid:26266536", "pmid:26083476", "pmid:26077168", "pmid:26067219", "pmid:26054379", "pmid:30363545", "pmid:25700012", "pmid:25634432", "pmid:25633985", "pmid:25590633", "pmid:25466696", "pmid:25320121", "pmid:25144244", "pmid:25143392", "pmid:25068645", "pmid:25026993", "pmid:24972706", "pmid:24780882", "pmid:24746364", "pmid:24675225", "pmid:24534762", "pmid:24525517", "pmid:24242192", "pmid:23844332", "pmid:23775343", "pmid:23659897", "pmid:23423669", "pmid:23413156", "pmid:23382971", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:22351852", "pmid:22297462", "pmid:22090366", "pmid:22023810", "pmid:21975858", "pmid:21889984", "pmid:21832228", "pmid:21795378", "pmid:21780213", "pmid:21625753", "pmid:21600833", "pmid:21506152", "pmid:20726892", "pmid:20503052", "pmid:20484674", "pmid:20467850", "pmid:20334689", "pmid:20069235", "pmid:22353486", "pmid:19802879", "pmid:19699305", "pmid:19672991", "pmid:19631275", "pmid:19608203", "pmid:19597981", "pmid:19503814", "pmid:19412185", "pmid:19049837", "pmid:18990604", "pmid:18759344", "pmid:18685131", "pmid:18506570", "pmid:18449188", "pmid:18418678", "pmid:18413477", "pmid:18385100", "pmid:18261802", "pmid:18182848", "pmid:18071041", "pmid:18028243", "pmid:17961920", "pmid:17948873", "pmid:17712857", "pmid:17594286", "pmid:17440947", "pmid:17420317", "pmid:17116127", "pmid:17027034", "pmid:16967484", "pmid:16791428", "pmid:16724006", "pmid:16687213", "pmid:16389595", "pmid:16340213", "pmid:16241973", "pmid:15911147", "pmid:15747371", "pmid:22473187", "pmid:15553088", "pmid:15534186", "pmid:15504352", "pmid:15265035", "pmid:15223312", "pmid:15201448", "pmid:15167689", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14966163", "pmid:14756671", "pmid:14679302", "pmid:14616293", "pmid:12938149", "pmid:12853230", "pmid:12832059", "pmid:12810491", "pmid:12764052", "pmid:12614315", "pmid:12486728", "pmid:12433269", "pmid:12235319", "pmid:12042281", "pmid:12007862", "pmid:11978767", "pmid:11889231", "pmid:11839840", "pmid:11807410", "pmid:11804332", "pmid:11559318", "pmid:11448300", "pmid:11466410", "pmid:11409435", "pmid:11405804", "pmid:11374096", "pmid:11160961", "pmid:10369884", "pmid:11030803", "pmid:11030410", "pmid:10942107", "pmid:10915763", "pmid:10894992", "pmid:10855623", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10732811", "pmid:10717003", "pmid:10575843", "pmid:10525976", "pmid:10453742", "pmid:10433966", "pmid:10072437", "pmid:10071104", "pmid:9973298", "pmid:9855520", "pmid:9762957", "pmid:9758625", "pmid:9696528", "pmid:9674805", "pmid:9635424", "pmid:9613852", "pmid:9536097", "pmid:9588850", "pmid:9577387", "pmid:9562258", "pmid:9549522", "pmid:9532283", "pmid:9469848", "pmid:9507387", "pmid:9506544", "pmid:9415538", "pmid:9450899", "pmid:9436730", "pmid:9385362", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9339702", "pmid:9339681", "pmid:9292723", "pmid:9259275", "pmid:9254842", "pmid:9225982", "pmid:9215676", "pmid:10735276", "pmid:9124808", "pmid:9106530", "pmid:9132496", "pmid:9020849", "pmid:10464657", "pmid:9401013", "pmid:8962095", "pmid:9088110", "pmid:8968739", "pmid:8931692", "pmid:8937340", "pmid:8836972", "pmid:8659514", "pmid:8609925", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8815156", "pmid:8824876", "pmid:8926495", "pmid:8900536", "pmid:8800925", "pmid:8559378", "pmid:8559377", "pmid:8583215", "pmid:7574470", "pmid:7573040", "pmid:7496771", "pmid:8523034", "pmid:7668288", "pmid:7611296", "pmid:7762567", "pmid:7655453", "pmid:7633439"]
+ "additional_literature": ["pmid:42337487", "pmid:42320256", "pmid:42251968", "pmid:42191105", "pmid:42105168", "pmid:42096001", "pmid:41854058", "pmid:41853947", "pmid:41818480", "pmid:41771688", "pmid:41736717", "pmid:41713739", "pmid:41701293", "pmid:41613623", "pmid:41552385", "pmid:41435767", "pmid:41358280", "pmid:41082794", "pmid:41058593", "pmid:41009775", "pmid:41001200", "pmid:40906330", "pmid:40900235", "pmid:40890629", "pmid:40880681", "pmid:40797466", "pmid:40754098", "pmid:40738252", "pmid:40692435", "pmid:40635703", "pmid:40488202", "pmid:40488180", "pmid:40450087", "pmid:40204795", "pmid:40178277", "pmid:40152810", "pmid:39987589", "pmid:39921113", "pmid:39820777", "pmid:39571249", "pmid:39516744", "pmid:39456985", "pmid:39375222", "pmid:39317855", "pmid:39298485", "pmid:39229124", "pmid:39125643", "pmid:39088078", "pmid:39048885", "pmid:38961870", "pmid:38900277", "pmid:38626762", "pmid:38513302", "pmid:38449714", "pmid:38443995", "pmid:38429929", "pmid:38291334", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37961108", "pmid:37866221", "pmid:37848721", "pmid:37830620", "pmid:37830611", "pmid:37735371", "pmid:37397792", "pmid:37379724", "pmid:37333326", "pmid:37215811", "pmid:37122622", "pmid:37003406", "pmid:36907537", "pmid:36891289", "pmid:36875652", "pmid:36733922", "pmid:36618024", "pmid:36530930", "pmid:36482247", "pmid:36250694", "pmid:35997830", "pmid:35962273", "pmid:35952620", "pmid:35851059", "pmid:35847233", "pmid:35426475", "pmid:35421843", "pmid:35406787", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:35042771", "pmid:34783886", "pmid:34716557", "pmid:34706018", "pmid:34565721", "pmid:34473252", "pmid:34430069", "pmid:34284285", "pmid:34191270", "pmid:34167352", "pmid:34160773", "pmid:34159894", "pmid:34087977", "pmid:33893204", "pmid:33782863", "pmid:33743045", "pmid:33502644", "pmid:33468086", "pmid:33413375", "pmid:33371889", "pmid:33159825", "pmid:33157084", "pmid:33087504", "pmid:33058338", "pmid:32978817", "pmid:32822634", "pmid:32729243", "pmid:32205441", "pmid:31934455", "pmid:31920494", "pmid:31783119", "pmid:31687087", "pmid:31616370", "pmid:31565539", "pmid:31394429", "pmid:31374463", "pmid:31310802", "pmid:31230722", "pmid:30920184", "pmid:30891880", "pmid:30833927", "pmid:30804982", "pmid:30685895", "pmid:30615214", "pmid:30591349", "pmid:30554804", "pmid:30314815", "pmid:30231063", "pmid:30125433", "pmid:30120431", "pmid:30008965", "pmid:29959555", "pmid:29936336", "pmid:29922950", "pmid:29881950", "pmid:29852360", "pmid:29801869", "pmid:29737427", "pmid:29666341", "pmid:29553382", "pmid:29497168", "pmid:29444500", "pmid:29249939", "pmid:29057148", "pmid:28854700", "pmid:28782341", "pmid:28624196", "pmid:28585930", "pmid:28444220", "pmid:28158474", "pmid:28065793", "pmid:27942452", "pmid:27896316", "pmid:27848087", "pmid:27847820", "pmid:27596958", "pmid:27774050", "pmid:27731380", "pmid:27600091", "pmid:27333979", "pmid:26615955", "pmid:26601773", "pmid:26505994", "pmid:26467707", "pmid:26377379", "pmid:26374734", "pmid:26362908", "pmid:26354989", "pmid:26336829", "pmid:26266536", "pmid:26083476", "pmid:26077168", "pmid:26067219", "pmid:26054379", "pmid:30363545", "pmid:25700012", "pmid:25634432", "pmid:25633985", "pmid:25590633", "pmid:25466696", "pmid:25320121", "pmid:25144244", "pmid:25143392", "pmid:25068645", "pmid:25026993", "pmid:24972706", "pmid:24780882", "pmid:24746364", "pmid:24675225", "pmid:24534762", "pmid:24525517", "pmid:24242192", "pmid:23844332", "pmid:23775343", "pmid:23659897", "pmid:23423669", "pmid:23413156", "pmid:23382971", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:22351852", "pmid:22297462", "pmid:22090366", "pmid:22023810", "pmid:21975858", "pmid:21889984", "pmid:21832228", "pmid:21795378", "pmid:21780213", "pmid:21625753", "pmid:21600833", "pmid:21506152", "pmid:20726892", "pmid:20503052", "pmid:20484674", "pmid:20467850", "pmid:20334689", "pmid:20069235", "pmid:22353486", "pmid:19802879", "pmid:19699305", "pmid:19672991", "pmid:19631275", "pmid:19608203", "pmid:19597981", "pmid:19503814", "pmid:19412185", "pmid:19049837", "pmid:18990604", "pmid:18759344", "pmid:18685131", "pmid:18506570", "pmid:18449188", "pmid:18418678", "pmid:18413477", "pmid:18385100", "pmid:18261802", "pmid:18182848", "pmid:18071041", "pmid:18028243", "pmid:17961920", "pmid:17948873", "pmid:17712857", "pmid:17594286", "pmid:17440947", "pmid:17420317", "pmid:17116127", "pmid:17027034", "pmid:16967484", "pmid:16791428", "pmid:16724006", "pmid:16687213", "pmid:16389595", "pmid:16340213", "pmid:16241973", "pmid:15911147", "pmid:15747371", "pmid:22473187", "pmid:15553088", "pmid:15534186", "pmid:15504352", "pmid:15265035", "pmid:15223312", "pmid:15201448", "pmid:15167689", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14966163", "pmid:14756671", "pmid:14679302", "pmid:14616293", "pmid:12938149", "pmid:12853230", "pmid:12832059", "pmid:12810491", "pmid:12764052", "pmid:12614315", "pmid:12486728", "pmid:12433269", "pmid:12235319", "pmid:12042281", "pmid:12007862", "pmid:11978767", "pmid:11889231", "pmid:11839840", "pmid:11807410", "pmid:11804332", "pmid:11559318", "pmid:11448300", "pmid:11466410", "pmid:11409435", "pmid:11405804", "pmid:11374096", "pmid:11160961", "pmid:10369884", "pmid:11030803", "pmid:11030410", "pmid:10942107", "pmid:10915763", "pmid:10894992", "pmid:10855623", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10732811", "pmid:10717003", "pmid:10575843", "pmid:10525976", "pmid:10453742", "pmid:10433966", "pmid:10072437", "pmid:10071104", "pmid:9973298", "pmid:9855520", "pmid:9762957", "pmid:9758625", "pmid:9696528", "pmid:9674805", "pmid:9635424", "pmid:9613852", "pmid:9536097", "pmid:9588850", "pmid:9577387", "pmid:9562258", "pmid:9549522", "pmid:9532283", "pmid:9469848", "pmid:9507387", "pmid:9506544", "pmid:9415538", "pmid:9450899", "pmid:9436730", "pmid:9385362", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9339702", "pmid:9339681", "pmid:9292723", "pmid:9259275", "pmid:9254842", "pmid:9225982", "pmid:9215676", "pmid:10735276", "pmid:9124808", "pmid:9106530", "pmid:9132496", "pmid:9020849", "pmid:10464657", "pmid:9401013", "pmid:8962095", "pmid:9088110", "pmid:8968739", "pmid:8931692", "pmid:8937340", "pmid:8836972", "pmid:8659514", "pmid:8609925", "pmid:8655136", "pmid:8780110", "pmid:8644735", "pmid:8815156", "pmid:8824876", "pmid:8926495", "pmid:8900536", "pmid:8800925", "pmid:8559378", "pmid:8559377", "pmid:8583215", "pmid:7574470", "pmid:7573040", "pmid:7496771", "pmid:8523034", "pmid:7668288", "pmid:7611296", "pmid:7762567", "pmid:7655453", "pmid:7633439"]
},
{
"id": "SCA7_ATXN7",
@@ -811,7 +811,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["pmid:20739808", "genereviews:NBK1256", "pmid:14571264", "pmid:18418675", "pmid:37906407", "pmid:35245110", "pmid:8908515", "omim:164500"],
- "additional_literature": ["pmid:41771688", "pmid:41254939", "pmid:40900235", "pmid:40488180", "pmid:40417743", "pmid:39820777", "pmid:39649105", "pmid:39571249", "pmid:39504355", "pmid:39317855", "pmid:39053472", "pmid:38961870", "pmid:38906973", "pmid:38851031", "pmid:38673939", "pmid:38626762", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:38045332", "pmid:37986914", "pmid:37848721", "pmid:37283503", "pmid:37214832", "pmid:36618024", "pmid:36530930", "pmid:35422034", "pmid:35182509", "pmid:35052497", "pmid:34870541", "pmid:34565721", "pmid:34160002", "pmid:34159894", "pmid:33995769", "pmid:33626063", "pmid:32138195", "pmid:31694722", "pmid:31522753", "pmid:31269856", "pmid:30891880", "pmid:30721448", "pmid:30699348", "pmid:30615214", "pmid:30381411", "pmid:30314815", "pmid:30255962", "pmid:30120431", "pmid:29801887", "pmid:29462666", "pmid:29316893", "pmid:29249939", "pmid:29248324", "pmid:28597910", "pmid:28585930", "pmid:28568901", "pmid:28444220", "pmid:27999335", "pmid:27774050", "pmid:27632585", "pmid:27333979", "pmid:27044733", "pmid:26584329", "pmid:26374734", "pmid:26077168", "pmid:25900954", "pmid:25755283", "pmid:25643591", "pmid:25608122", "pmid:25506882", "pmid:25466696", "pmid:25306109", "pmid:24972706", "pmid:24667781", "pmid:24534762", "pmid:24209901", "pmid:23828024", "pmid:23368522", "pmid:23197655", "pmid:23064575", "pmid:23026538", "pmid:22831947", "pmid:22520093", "pmid:22072678", "pmid:22053702", "pmid:21689595", "pmid:21147232", "pmid:20069235", "pmid:19226466", "pmid:19008940", "pmid:18418678", "pmid:18325672", "pmid:18182848", "pmid:17961920", "pmid:17420317", "pmid:17254003", "pmid:16626296", "pmid:16436644", "pmid:16434483", "pmid:16389941", "pmid:16389595", "pmid:16325416", "pmid:15750685", "pmid:15715978", "pmid:22473187", "pmid:15349877", "pmid:15148151", "pmid:15115762", "pmid:15080863", "pmid:14967767", "pmid:14966163", "pmid:12810491", "pmid:12764052", "pmid:12490531", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11781712", "pmid:11580893", "pmid:11448300", "pmid:11160961", "pmid:10369884", "pmid:11030825", "pmid:11030806", "pmid:11030410", "pmid:10942107", "pmid:10894992", "pmid:10841760", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10602364", "pmid:10556295", "pmid:9467013", "pmid:10500272", "pmid:10453742", "pmid:10441328", "pmid:9973298", "pmid:9855520", "pmid:9736784", "pmid:9613852", "pmid:9536097", "pmid:9425224", "pmid:9425223", "pmid:9425222", "pmid:9425905", "pmid:9385362", "pmid:9288099", "pmid:10464657"]
+ "additional_literature": ["pmid:42340810", "pmid:42264098", "pmid:41771688", "pmid:41254939", "pmid:40900235", "pmid:40488180", "pmid:40417743", "pmid:39820777", "pmid:39649105", "pmid:39571249", "pmid:39504355", "pmid:39317855", "pmid:39053472", "pmid:38961870", "pmid:38906973", "pmid:38851031", "pmid:38673939", "pmid:38626762", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:38045332", "pmid:37986914", "pmid:37848721", "pmid:37283503", "pmid:37214832", "pmid:36618024", "pmid:36530930", "pmid:35422034", "pmid:35182509", "pmid:35052497", "pmid:34870541", "pmid:34565721", "pmid:34160002", "pmid:34159894", "pmid:33995769", "pmid:33626063", "pmid:32138195", "pmid:31694722", "pmid:31522753", "pmid:31269856", "pmid:30891880", "pmid:30721448", "pmid:30699348", "pmid:30615214", "pmid:30381411", "pmid:30314815", "pmid:30255962", "pmid:30120431", "pmid:29801887", "pmid:29462666", "pmid:29316893", "pmid:29249939", "pmid:29248324", "pmid:28597910", "pmid:28585930", "pmid:28568901", "pmid:28444220", "pmid:27999335", "pmid:27774050", "pmid:27632585", "pmid:27333979", "pmid:27044733", "pmid:26584329", "pmid:26374734", "pmid:26077168", "pmid:25900954", "pmid:25755283", "pmid:25643591", "pmid:25608122", "pmid:25506882", "pmid:25466696", "pmid:25306109", "pmid:24972706", "pmid:24667781", "pmid:24534762", "pmid:24209901", "pmid:23828024", "pmid:23368522", "pmid:23197655", "pmid:23064575", "pmid:23026538", "pmid:22831947", "pmid:22520093", "pmid:22072678", "pmid:22053702", "pmid:21689595", "pmid:21147232", "pmid:20069235", "pmid:19226466", "pmid:19008940", "pmid:18418678", "pmid:18325672", "pmid:18182848", "pmid:17961920", "pmid:17420317", "pmid:17254003", "pmid:16626296", "pmid:16436644", "pmid:16434483", "pmid:16389941", "pmid:16389595", "pmid:16325416", "pmid:15750685", "pmid:15715978", "pmid:22473187", "pmid:15349877", "pmid:15148151", "pmid:15115762", "pmid:15080863", "pmid:14967767", "pmid:14966163", "pmid:12810491", "pmid:12764052", "pmid:12490531", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11781712", "pmid:11580893", "pmid:11448300", "pmid:11160961", "pmid:10369884", "pmid:11030825", "pmid:11030806", "pmid:11030410", "pmid:10942107", "pmid:10894992", "pmid:10841760", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10602364", "pmid:10556295", "pmid:9467013", "pmid:10500272", "pmid:10453742", "pmid:10441328", "pmid:9973298", "pmid:9855520", "pmid:9736784", "pmid:9613852", "pmid:9536097", "pmid:9425224", "pmid:9425223", "pmid:9425222", "pmid:9425905", "pmid:9385362", "pmid:9288099", "pmid:10464657"]
},
{
"id": "SCA8_ATXN8OS",
@@ -887,8 +887,8 @@
"webstr_hg19": ["Expansion_SCA8/ATXN8"],
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "motif_affects_onset", "motif_affects_penetrance"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["genereviews:NBK1268", "doi:10.1101/gr.279634.124", "omim:608768", "pmid:16804541", "pmid:20373340", "pmid:28451643", "pmid:34632710", "pmid:29100084", "pmid:10192387", "mondo:0012116"],
- "additional_literature": ["pmid:41771688", "pmid:41762523", "pmid:41353794", "pmid:41082794", "pmid:41079917", "pmid:41074692", "pmid:41001200", "pmid:40906330", "pmid:40890648", "pmid:40844737", "pmid:40765612", "pmid:40488180", "pmid:40007153", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37906407", "pmid:37848721", "pmid:37146135", "pmid:37003406", "pmid:36703300", "pmid:36530930", "pmid:34622207", "pmid:34600502", "pmid:34284285", "pmid:33526774", "pmid:33502644", "pmid:31471687", "pmid:30109267", "pmid:29316893", "pmid:29111027", "pmid:28782341", "pmid:28229454", "pmid:27896316", "pmid:26374734", "pmid:26077168", "pmid:25466696", "pmid:23711133", "pmid:23026538", "pmid:22581592", "pmid:22520093", "pmid:22297462", "pmid:22053702", "pmid:21173221", "pmid:20403608", "pmid:19259763", "pmid:19229559", "pmid:18684474", "pmid:18418692", "pmid:17961920", "pmid:17005861", "pmid:16184604", "pmid:16054804", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:14972680", "pmid:14966163", "pmid:14960773", "pmid:14756671", "pmid:12838526", "pmid:12764052", "pmid:12545428", "pmid:12505613", "pmid:12470185", "pmid:12431257", "pmid:12372061", "pmid:12140678", "pmid:12042281", "pmid:11939898", "pmid:11839840", "pmid:11807410", "pmid:11708995", "pmid:11591855", "pmid:11448300", "pmid:11160961", "pmid:11121196", "pmid:11102643", "pmid:11030410", "pmid:10976642", "pmid:10958651", "pmid:10785256", "pmid:10712198", "pmid:10700168", "pmid:10690991"]
+ "references": ["genereviews:NBK1268", "pmid:40015980", "omim:608768", "pmid:16804541", "pmid:20373340", "pmid:28451643", "pmid:34632710", "pmid:29100084", "pmid:10192387", "mondo:0012116"],
+ "additional_literature": ["pmid:42371259", "pmid:42105044", "pmid:42096001", "pmid:42094143", "pmid:41771688", "pmid:41762523", "pmid:41353794", "pmid:41082794", "pmid:41079917", "pmid:41074692", "pmid:41001200", "pmid:40906330", "pmid:40890648", "pmid:40844737", "pmid:40765612", "pmid:40488180", "pmid:40007153", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37906407", "pmid:37848721", "pmid:37146135", "pmid:37003406", "pmid:36703300", "pmid:36530930", "pmid:34622207", "pmid:34600502", "pmid:34284285", "pmid:33526774", "pmid:33502644", "pmid:31471687", "pmid:30109267", "pmid:29316893", "pmid:29111027", "pmid:28782341", "pmid:28229454", "pmid:27896316", "pmid:26374734", "pmid:26077168", "pmid:25466696", "pmid:23711133", "pmid:23026538", "pmid:22581592", "pmid:22520093", "pmid:22297462", "pmid:22053702", "pmid:21173221", "pmid:20403608", "pmid:19259763", "pmid:19229559", "pmid:18684474", "pmid:18418692", "pmid:17961920", "pmid:17005861", "pmid:16184604", "pmid:16054804", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:14972680", "pmid:14966163", "pmid:14960773", "pmid:14756671", "pmid:12838526", "pmid:12764052", "pmid:12545428", "pmid:12505613", "pmid:12470185", "pmid:12431257", "pmid:12372061", "pmid:12140678", "pmid:12042281", "pmid:11939898", "pmid:11839840", "pmid:11807410", "pmid:11708995", "pmid:11591855", "pmid:11448300", "pmid:11160961", "pmid:11121196", "pmid:11102643", "pmid:11030410", "pmid:10976642", "pmid:10958651", "pmid:10785256", "pmid:10712198", "pmid:10700168", "pmid:10690991"]
},
{
"id": "SCA31_BEAN1",
@@ -1021,8 +1021,8 @@
"webstr_hg19": ["STR_1475506"],
"locus_tags": ["length_affects_phenotype", "length_affects_onset"],
"disease_tags": ["phenotypic_spectrum"],
- "references": ["genereviews:NBK268647", "omim:105500", "pmid:37847372", "pmid:39999167", "pmid:37388914", "pmid:22406228", "stripy:C9ORF72", "pmid:41951733", "pmid:28319737", "pmid:31315673", "pmid:38099605", "pmid:31048495", "pmid:39709476", "pmid:41986690", "pmid:28522837", "pmid:39226712", "pmid:38149039", "pmid:39315390", "pmid:21944778", "pmid:39349043", "pmid:41074692", "pmid:41957010"],
- "additional_literature": ["pmid:42222887", "pmid:42221822", "pmid:42211284", "pmid:42160515", "pmid:42158267", "pmid:42147445", "pmid:42145639", "pmid:42135512", "pmid:42095061", "pmid:42087256", "pmid:42033225", "pmid:41995858", "pmid:41993388", "pmid:41987036", "pmid:41961863", "pmid:41928938", "pmid:41917466", "pmid:41884597", "pmid:41856038", "pmid:41810938", "pmid:41799019", "pmid:41787388", "pmid:41766077", "pmid:41763422", "pmid:41762523", "pmid:41760955", "pmid:41757350", "pmid:41752089", "pmid:41751955", "pmid:41727102", "pmid:41717003", "pmid:41692171", "pmid:41665027", "pmid:41658940", "pmid:41643661", "pmid:41643021", "pmid:41640102", "pmid:41623487", "pmid:41612618", "pmid:41500252", "pmid:41440030", "pmid:41437053", "pmid:41426430", "pmid:41423553", "pmid:41394713", "pmid:41394638", "pmid:41379346", "pmid:41366786", "pmid:41359433", "pmid:41358323", "pmid:41294820", "pmid:41283823", "pmid:41278665", "pmid:41271630", "pmid:41269363", "pmid:41256634", "pmid:41240362", "pmid:41216140", "pmid:41196070", "pmid:41149812", "pmid:41149783", "pmid:41141812", "pmid:41137727", "pmid:41087751", "pmid:41063344", "pmid:41060790", "pmid:41040221", "pmid:41030957", "pmid:41025901", "pmid:41024438", "pmid:41009775", "pmid:41006764", "pmid:41005474", "pmid:41004400", "pmid:40992079", "pmid:40981770", "pmid:40966720", "pmid:40952044", "pmid:40930530", "pmid:40908789", "pmid:40891053", "pmid:40888599", "pmid:40875372", "pmid:40865525", "pmid:40832293", "pmid:40790269", "pmid:40776416", "pmid:40767591", "pmid:40765612", "pmid:40763713", "pmid:40758885", "pmid:40746751", "pmid:40709577", "pmid:40682810", "pmid:40621734", "pmid:40585812", "pmid:40581653", "pmid:40541176", "pmid:40536530", "pmid:40513650", "pmid:40504117", "pmid:40478310", "pmid:40426848", "pmid:40424855", "pmid:40411682", "pmid:40375307", "pmid:40349639", "pmid:40349338", "pmid:40346885", "pmid:40260680", "pmid:40250093", "pmid:40207633", "pmid:40203833", "pmid:40196659", "pmid:40150989", "pmid:40138021", "pmid:40073860", "pmid:40053600", "pmid:40050010", "pmid:40027671", "pmid:40000803", "pmid:39975241", "pmid:39957101", "pmid:39945490", "pmid:39920674", "pmid:39913612", "pmid:39894561", "pmid:39893487", "pmid:39869842", "pmid:39809899", "pmid:39779704", "pmid:39779681", "pmid:39764003", "pmid:39747573", "pmid:39730482", "pmid:39722074", "pmid:39711523", "pmid:39703094", "pmid:39670345", "pmid:39669124", "pmid:39638345", "pmid:39621905", "pmid:39589881", "pmid:39581338", "pmid:39569145", "pmid:39437787", "pmid:39417137", "pmid:39382125", "pmid:39345637", "pmid:39339364", "pmid:39323877", "pmid:39316747", "pmid:39316038", "pmid:39311028", "pmid:39289761", "pmid:39288267", "pmid:39282230", "pmid:39268612", "pmid:39270726", "pmid:39260140", "pmid:39256877", "pmid:39254359", "pmid:39253499", "pmid:39246336", "pmid:39233852", "pmid:39229486", "pmid:39222049", "pmid:39181135", "pmid:39146722", "pmid:39106320", "pmid:39098187", "pmid:39088455", "pmid:39059407", "pmid:39058450", "pmid:39056697", "pmid:39042693", "pmid:39000564", "pmid:38935506", "pmid:38915937", "pmid:38902980", "pmid:38896262", "pmid:38884646", "pmid:38876108", "pmid:38860430", "pmid:38852112", "pmid:38847891", "pmid:38799643", "pmid:38796984", "pmid:38753768", "pmid:38751620", "pmid:38746326", "pmid:38734896", "pmid:38722513", "pmid:38684907", "pmid:38667292", "pmid:38658168", "pmid:38641715", "pmid:38625400", "pmid:38621131", "pmid:38615685", "pmid:38613988", "pmid:38606777", "pmid:38585915", "pmid:38568044", "pmid:38556190", "pmid:38495583", "pmid:38464738", "pmid:38444607", "pmid:38431841", "pmid:38412259", "pmid:38397958", "pmid:38394210", "pmid:38376483", "pmid:38295729", "pmid:38312023", "pmid:38301895", "pmid:38260655", "pmid:38242117", "pmid:38234062", "pmid:38229533", "pmid:38191789", "pmid:38168370", "pmid:38168171", "pmid:38112783", "pmid:38110419", "pmid:38092738", "pmid:38064514", "pmid:38019311", "pmid:38009843", "pmid:37948524", "pmid:37891975", "pmid:37861203", "pmid:37845749", "pmid:37839080", "pmid:37827570", "pmid:37808871", "pmid:37791472", "pmid:37763163", "pmid:37736756", "pmid:37723585", "pmid:37714849", "pmid:37693322", "pmid:37686239", "pmid:37675986", "pmid:37648532", "pmid:37644512", "pmid:37590144", "pmid:37574738", "pmid:37548032", "pmid:37545231", "pmid:37527465", "pmid:37511014", "pmid:37471224", "pmid:37461319", "pmid:37450566", "pmid:37421883", "pmid:37399804", "pmid:37386798", "pmid:37379724", "pmid:37365312", "pmid:37339631", "pmid:37334257", "pmid:37333274", "pmid:37333144", "pmid:37332610", "pmid:37317656", "pmid:37294668", "pmid:37288312", "pmid:37223130", "pmid:37202167", "pmid:37178170", "pmid:37173134", "pmid:37147520", "pmid:37146135", "pmid:37138766", "pmid:37138765", "pmid:37133535", "pmid:37107688", "pmid:37080969", "pmid:37073950", "pmid:37043475", "pmid:37015082", "pmid:37010807", "pmid:37006326", "pmid:36963214", "pmid:36936421", "pmid:36857431", "pmid:36823368", "pmid:36822200", "pmid:36799407", "pmid:36764521", "pmid:36711601", "pmid:36650645", "pmid:36638803", "pmid:36619668", "pmid:36549973", "pmid:36515702", "pmid:36511680", "pmid:36511398", "pmid:36494425", "pmid:36482247", "pmid:36458975", "pmid:36454749", "pmid:36446586", "pmid:36443488", "pmid:36438488", "pmid:36409902", "pmid:36379394", "pmid:36373318", "pmid:36345033", "pmid:36322143", "pmid:36308529", "pmid:36271076", "pmid:36252286", "pmid:36226890", "pmid:36220889", "pmid:36219176", "pmid:36217158", "pmid:36202819", "pmid:36151083", "pmid:36148898", "pmid:36130523", "pmid:36108486", "pmid:36103513", "pmid:38933387", "pmid:36070099", "pmid:36008116", "pmid:35989899", "pmid:35974122", "pmid:35933239", "pmid:35908282", "pmid:35906014", "pmid:35903771", "pmid:35895140", "pmid:35876881", "pmid:35869263", "pmid:35843530", "pmid:35813024", "pmid:35793625", "pmid:35766328", "pmid:35752680", "pmid:35746899", "pmid:35726380", "pmid:35675776", "pmid:35661131", "pmid:35633169", "pmid:35625816", "pmid:35599735", "pmid:35594156", "pmid:35592494", "pmid:35589711", "pmid:35568435", "pmid:35525134", "pmid:35462091", "pmid:35383205", "pmid:35379876", "pmid:35379698", "pmid:35314728", "pmid:35295181", "pmid:35259014", "pmid:35189395", "pmid:35182509", "pmid:35171477", "pmid:35152451", "pmid:35096836", "pmid:35091648", "pmid:35052416", "pmid:35047667", "pmid:35026048", "pmid:35007998", "pmid:34978044", "pmid:34949835", "pmid:34915153", "pmid:34853325", "pmid:34848561", "pmid:34827542", "pmid:34791698", "pmid:34723963", "pmid:34717271", "pmid:34705518", "pmid:34687211", "pmid:34677935", "pmid:34654821", "pmid:34638725", "pmid:34573259", "pmid:34542927", "pmid:34534264", "pmid:34526954", "pmid:34475377", "pmid:34450161", "pmid:34440384", "pmid:34435379", "pmid:34431456", "pmid:34404558", "pmid:34397416", "pmid:34389718", "pmid:34389711", "pmid:34386583", "pmid:34382491", "pmid:34376242", "pmid:34328616", "pmid:34318620", "pmid:34310040", "pmid:34305575", "pmid:34297726", "pmid:34233951", "pmid:34229542", "pmid:34209673", "pmid:34187866", "pmid:34179866", "pmid:34174288", "pmid:34172817", "pmid:34170347", "pmid:34168085", "pmid:34157654", "pmid:34152475", "pmid:34140881", "pmid:34133945", "pmid:34118929", "pmid:34099711", "pmid:34093394", "pmid:34051439", "pmid:34048588", "pmid:33977144", "pmid:33967699", "pmid:33935096", "pmid:33906932", "pmid:33892814", "pmid:33889947", "pmid:33857770", "pmid:33837088", "pmid:33833668", "pmid:33830997", "pmid:33815737", "pmid:33789100", "pmid:33788382", "pmid:33741069", "pmid:33739284", "pmid:33737586", "pmid:33730968", "pmid:33726839", "pmid:33709219", "pmid:33705846", "pmid:33663561", "pmid:33661518", "pmid:33619157", "pmid:33601107", "pmid:33588953", "pmid:33558503", "pmid:33554115", "pmid:33482083", "pmid:33431483", "pmid:33414559", "pmid:33409820", "pmid:33378537", "pmid:33377399", "pmid:33376800", "pmid:33363944", "pmid:33329355", "pmid:33300868", "pmid:33276461", "pmid:33253636", "pmid:33196168", "pmid:33168090", "pmid:33168078", "pmid:33149115", "pmid:33131137", "pmid:33129345", "pmid:33123074", "pmid:33058338", "pmid:33055142", "pmid:33022226", "pmid:32989102", "pmid:32961393", "pmid:32958650", "pmid:32954321", "pmid:32949047", "pmid:32921502", "pmid:32894207", "pmid:32878979", "pmid:32865792", "pmid:32845284", "pmid:32843153", "pmid:32843152", "pmid:32830871", "pmid:32823188", "pmid:32821252", "pmid:32769055", "pmid:32759310", "pmid:32755582", "pmid:32721467", "pmid:32683569", "pmid:32675418", "pmid:32638105", "pmid:32628322", "pmid:32554322", "pmid:32521185", "pmid:32504093", "pmid:32500377", "pmid:32485711", "pmid:32483373", "pmid:32441885", "pmid:32421156", "pmid:32410933", "pmid:32385536", "pmid:32375063", "pmid:32375043", "pmid:32347002", "pmid:32338076", "pmid:32296747", "pmid:32284607", "pmid:32281118", "pmid:32278549", "pmid:32226938", "pmid:32223927", "pmid:32184029", "pmid:32180125", "pmid:32175624", "pmid:32151952", "pmid:32132225", "pmid:32125773", "pmid:32123048", "pmid:32119645", "pmid:32100453", "pmid:32093728", "pmid:32084385", "pmid:32082115", "pmid:32070418", "pmid:32059759", "pmid:32042907", "pmid:32035967", "pmid:32035847", "pmid:32000838", "pmid:31991801", "pmid:31930538", "pmid:31925813", "pmid:31858749", "pmid:31852251", "pmid:31847700", "pmid:31843021", "pmid:31836585", "pmid:31831332", "pmid:31810584", "pmid:31800202", "pmid:31791419", "pmid:31702465", "pmid:31676125", "pmid:31651360", "pmid:31649034", "pmid:31647549", "pmid:31642962", "pmid:31637556", "pmid:31633109", "pmid:31625563", "pmid:31624333", "pmid:31619481", "pmid:31594549", "pmid:31587919", "pmid:31586943", "pmid:31582231", "pmid:31579943", "pmid:31578297", "pmid:31561355", "pmid:31559531", "pmid:31551693", "pmid:31530427", "pmid:31499409", "pmid:31475037", "pmid:31444357", "pmid:31439573", "pmid:31432691", "pmid:31375896", "pmid:31358992", "pmid:31327044", "pmid:31325016", "pmid:31205123", "pmid:31176718", "pmid:31156370", "pmid:31127772", "pmid:31086314", "pmid:31041398", "pmid:31036086", "pmid:31019099", "pmid:31019093", "pmid:31009932", "pmid:31007077", "pmid:30992335", "pmid:30992141", "pmid:30992063", "pmid:30985904", "pmid:30981631", "pmid:30979436", "pmid:30945056", "pmid:30938419", "pmid:30863279", "pmid:30861516", "pmid:30859373", "pmid:30846540", "pmid:30790403", "pmid:30777654", "pmid:30767771", "pmid:30739198", "pmid:30714955", "pmid:30711674", "pmid:30685122", "pmid:30643298", "pmid:30617627", "pmid:30617154", "pmid:30610877", "pmid:30554355", "pmid:30550541", "pmid:30530974", "pmid:30528349", "pmid:30527999", "pmid:30454072", "pmid:30447080", "pmid:30396881", "pmid:30356970", "pmid:30349864", "pmid:30347338", "pmid:30337192", "pmid:30336474", "pmid:30320585", "pmid:30312838", "pmid:30310141", "pmid:30261505", "pmid:30252044", "pmid:30239641", "pmid:30233460", "pmid:30213863", "pmid:30210275", "pmid:30150298", "pmid:30126445", "pmid:30109267", "pmid:30099204", "pmid:30093141", "pmid:30090657", "pmid:30075745", "pmid:30023173", "pmid:30022074", "pmid:29973287", "pmid:29957385", "pmid:29942091", "pmid:29912891", "pmid:29895397", "pmid:29889265", "pmid:29866399", "pmid:29861044", "pmid:29859640", "pmid:29855382", "pmid:29848387", "pmid:29801887", "pmid:29761121", "pmid:29750243", "pmid:29748150", "pmid:29738460", "pmid:29628143", "pmid:29610297", "pmid:29598923", "pmid:29525180", "pmid:29507424", "pmid:29493298", "pmid:29480190", "pmid:29480183", "pmid:29479499", "pmid:29476165", "pmid:29449030", "pmid:29441485", "pmid:29439323", "pmid:29400714", "pmid:29380049", "pmid:29367641", "pmid:29352617", "pmid:29352102", "pmid:29316893", "pmid:29302060", "pmid:29281254", "pmid:29274668", "pmid:29264395", "pmid:29222490", "pmid:29216908", "pmid:29196813", "pmid:29170628", "pmid:29166782", "pmid:29149615", "pmid:29131108", "pmid:29113975", "pmid:29095328", "pmid:29080331", "pmid:29056323", "pmid:29055436", "pmid:29049464", "pmid:29036691", "pmid:28973350", "pmid:28889094", "pmid:28887402", "pmid:28827593", "pmid:28808785", "pmid:28803727", "pmid:28749476", "pmid:28720882", "pmid:28714954", "pmid:28677678", "pmid:28666709", "pmid:28660252", "pmid:28642336", "pmid:28637276", "pmid:28614712", "pmid:28606110", "pmid:28570551", "pmid:28551275", "pmid:28550099", "pmid:28542233", "pmid:28539470", "pmid:28527524", "pmid:28508101", "pmid:28491898", "pmid:28482638", "pmid:28481984", "pmid:28462717", "pmid:28452351", "pmid:28439722", "pmid:28431575", "pmid:28420437", "pmid:28408402", "pmid:28387671", "pmid:28365006", "pmid:28356511", "pmid:28351931", "pmid:28334866", "pmid:28322003", "pmid:28320191", "pmid:28306503", "pmid:28222900", "pmid:28197542", "pmid:28192553", "pmid:28160950", "pmid:28158451", "pmid:28132891", "pmid:28131227", "pmid:28124431", "pmid:28116236", "pmid:28105640", "pmid:28103472", "pmid:28089114", "pmid:28088213", "pmid:28010125", "pmid:28003435", "pmid:27936955", "pmid:27933757", "pmid:27875531", "pmid:27797809", "pmid:27796305", "pmid:27790088", "pmid:27688759", "pmid:27739539", "pmid:27773700", "pmid:27595458", "pmid:27768896", "pmid:27756805", "pmid:27720481", "pmid:27732842", "pmid:27671483", "pmid:27666590", "pmid:27663272", "pmid:27652840", "pmid:27646412", "pmid:27623008", "pmid:27617292", "pmid:27516603", "pmid:27480424", "pmid:27473499", "pmid:27461252", "pmid:27413586", "pmid:27400454", "pmid:27388677", "pmid:27375918", "pmid:27369896", "pmid:27334615", "pmid:27327087", "pmid:27288208", "pmid:27274540", "pmid:27245636", "pmid:27241037", "pmid:27195002", "pmid:27193190", "pmid:27151634", "pmid:27112497", "pmid:27097283", "pmid:27079381", "pmid:26998601", "pmid:26979938", "pmid:26967212", "pmid:26931465", "pmid:26925510", "pmid:26919046", "pmid:26915990", "pmid:26903389", "pmid:26878348", "pmid:26862832", "pmid:26839080", "pmid:26810537", "pmid:26785370", "pmid:26777436", "pmid:26769963", "pmid:26746986", "pmid:26735706", "pmid:26733254", "pmid:26728149", "pmid:26725464", "pmid:26723138", "pmid:28337409", "pmid:26691640", "pmid:26690922", "pmid:26674655", "pmid:26637797", "pmid:26632347", "pmid:26599997", "pmid:26584779", "pmid:26551617", "pmid:26547294", "pmid:26538301", "pmid:26526532", "pmid:26497991", "pmid:26481318", "pmid:26463209", "pmid:26437865", "pmid:29213991", "pmid:26408000", "pmid:26401819", "pmid:26374446", "pmid:26350237", "pmid:26348842", "pmid:26347457", "pmid:26308983", "pmid:26308899", "pmid:26308891", "pmid:26304661", "pmid:26275564", "pmid:26254955", "pmid:26234378", "pmid:26233805", "pmid:26174152", "pmid:26166205", "pmid:26146826", "pmid:26142124", "pmid:26108573", "pmid:26099177", "pmid:26095883", "pmid:26083476", "pmid:26044557", "pmid:26031661", "pmid:26022924", "pmid:26016851", "pmid:25977373", "pmid:25943890", "pmid:25943887", "pmid:25934183", "pmid:25835037", "pmid:25795648", "pmid:25791939", "pmid:25788698", "pmid:25756586", "pmid:25732802", "pmid:25716178", "pmid:25712133", "pmid:25637145", "pmid:25618255", "pmid:25617006", "pmid:25595499", "pmid:25585530", "pmid:25531686", "pmid:25467142", "pmid:25457023", "pmid:25442110", "pmid:25436637", "pmid:25433797", "pmid:25433461", "pmid:25388784", "pmid:25377888", "pmid:25326098", "pmid:25319030", "pmid:25308964", "pmid:25284081", "pmid:25281017", "pmid:25273996", "pmid:25248608", "pmid:25239657", "pmid:25210488", "pmid:25207541", "pmid:25203513", "pmid:25185840", "pmid:25182743", "pmid:25179228", "pmid:25173361", "pmid:25158292", "pmid:25156163", "pmid:25147206", "pmid:25132468", "pmid:25123918", "pmid:25120191", "pmid:25115936", "pmid:25111021", "pmid:25108559", "pmid:25098532", "pmid:25085782", "pmid:25081482", "pmid:25034271", "pmid:24950788", "pmid:24928930", "pmid:24908669", "pmid:24908169", "pmid:24898647", "pmid:24866401", "pmid:24866055", "pmid:24861139", "pmid:24819148", "pmid:24806409", "pmid:24803912", "pmid:24798095", "pmid:24756204", "pmid:24733620", "pmid:24706941", "pmid:24704492", "pmid:24667415", "pmid:24650794", "pmid:24612676", "pmid:24598541", "pmid:24573903", "pmid:24559645", "pmid:24549040", "pmid:24530272", "pmid:24445987", "pmid:24442578", "pmid:24439166", "pmid:24417314", "pmid:24387986", "pmid:24387985", "pmid:24385136", "pmid:24378086", "pmid:24363131", "pmid:24355526", "pmid:24329881", "pmid:24319645", "pmid:24309270", "pmid:24286341", "pmid:24269022", "pmid:24269018", "pmid:24252571", "pmid:24252525", "pmid:24248382", "pmid:24212388", "pmid:24179835", "pmid:24170096", "pmid:24169076", "pmid:24166615", "pmid:24154603", "pmid:24139042", "pmid:24129584", "pmid:24126854", "pmid:24121957", "pmid:24107864", "pmid:24096617", "pmid:24080172", "pmid:24077574", "pmid:24068985", "pmid:24057670", "pmid:24053774", "pmid:24052799", "pmid:24027057", "pmid:24011653", "pmid:23998997", "pmid:23987827", "pmid:23973441", "pmid:23962495", "pmid:23922030", "pmid:23894576", "pmid:23884045", "pmid:23870417", "pmid:23869403", "pmid:23845100", "pmid:23836460", "pmid:23836290", "pmid:23818065", "pmid:23771489", "pmid:23731538", "pmid:23720273", "pmid:23695224", "pmid:23686809", "pmid:23597494", "pmid:23588498", "pmid:23588422", "pmid:23587638", "pmid:23566336", "pmid:23553481", "pmid:23551834", "pmid:23548882", "pmid:23473366", "pmid:23437264", "pmid:23435409", "pmid:23434116", "pmid:23423380", "pmid:23421625", "pmid:23415312", "pmid:23413259", "pmid:23383383", "pmid:23381195", "pmid:23358603", "pmid:23352322", "pmid:23338750", "pmid:23338682", "pmid:23329412", "pmid:23284068", "pmid:23273600", "pmid:23261768", "pmid:23254636", "pmid:23216213", "pmid:23199140", "pmid:23151261", "pmid:23141412", "pmid:23117491", "pmid:23116878", "pmid:23107433", "pmid:23088937", "pmid:23085936", "pmid:23084342", "pmid:23063644", "pmid:23053136", "pmid:23053135", "pmid:23036583", "pmid:23035801", "pmid:23016833", "pmid:23012445", "pmid:23006986", "pmid:22993125", "pmid:22985429", "pmid:22964911", "pmid:22936364", "pmid:22918453", "pmid:22898310", "pmid:22892647", "pmid:22878164", "pmid:22875087", "pmid:22875086", "pmid:22843265", "pmid:22840558", "pmid:22818528", "pmid:22815561", "pmid:22766732", "pmid:22766072", "pmid:22742426", "pmid:22739338", "pmid:22727276", "pmid:22721568", "pmid:22720079", "pmid:22708871", "pmid:22702520", "pmid:22692064", "pmid:22673113", "pmid:22650353", "pmid:22645277", "pmid:22637471", "pmid:22637429", "pmid:22571983", "pmid:22564974", "pmid:22550220", "pmid:22507827", "pmid:22502998", "pmid:22499346", "pmid:22483864", "pmid:22459598", "pmid:22426854", "pmid:22418734", "pmid:22410647", "pmid:22406229", "pmid:22399793", "pmid:22366794", "pmid:22366793", "pmid:22366792", "pmid:22366791", "pmid:22343411", "pmid:22305801", "pmid:22300876", "pmid:22300873", "pmid:22228244", "pmid:22216764", "pmid:22181065", "pmid:22154785", "pmid:22101323", "pmid:22083254", "pmid:21944779"]
+ "references": ["genereviews:NBK268647", "omim:105500", "pmid:37847372", "pmid:39999167", "pmid:42087256", "pmid:42145639", "pmid:42135512", "pmid:37388914", "pmid:22406228", "stripy:C9ORF72", "pmid:41951733", "pmid:28319737", "pmid:31315673", "pmid:38099605", "pmid:31048495", "pmid:39709476", "pmid:41986690", "pmid:28522837", "pmid:42222887", "pmid:39226712", "pmid:42095061", "pmid:42158267", "pmid:38149039", "pmid:39315390", "pmid:21944778", "pmid:39349043", "pmid:41074692", "pmid:41957010"],
+ "additional_literature": ["pmid:42367691", "pmid:42331066", "pmid:42316301", "pmid:42314891", "pmid:42302493", "pmid:42296226", "pmid:42221822", "pmid:42211284", "pmid:42147445", "pmid:42033225", "pmid:41995858", "pmid:41993388", "pmid:41987036", "pmid:41961863", "pmid:41928938", "pmid:41917466", "pmid:41884597", "pmid:41856038", "pmid:41810938", "pmid:41799019", "pmid:41787388", "pmid:41766077", "pmid:41763422", "pmid:41762523", "pmid:41757350", "pmid:41752089", "pmid:41751955", "pmid:41727102", "pmid:41717003", "pmid:41692171", "pmid:41665027", "pmid:41658940", "pmid:41643661", "pmid:41643021", "pmid:41640102", "pmid:41623487", "pmid:41500252", "pmid:41440030", "pmid:41437053", "pmid:41426430", "pmid:41423553", "pmid:41394713", "pmid:41394638", "pmid:41379346", "pmid:41366786", "pmid:41359433", "pmid:41358323", "pmid:41294820", "pmid:41283823", "pmid:41278665", "pmid:41271630", "pmid:41269363", "pmid:41256634", "pmid:41240362", "pmid:41216140", "pmid:41196070", "pmid:41149812", "pmid:41149783", "pmid:41141812", "pmid:41137727", "pmid:41087751", "pmid:41063344", "pmid:41060790", "pmid:41040221", "pmid:41030957", "pmid:41025901", "pmid:41024438", "pmid:41009775", "pmid:41006764", "pmid:41005474", "pmid:41004400", "pmid:40992079", "pmid:40981770", "pmid:40966720", "pmid:40952044", "pmid:40930530", "pmid:40908789", "pmid:40891053", "pmid:40888599", "pmid:40875372", "pmid:40865525", "pmid:40832293", "pmid:40790269", "pmid:40776416", "pmid:40767591", "pmid:40765612", "pmid:40763713", "pmid:40758885", "pmid:40746751", "pmid:40709577", "pmid:40682810", "pmid:40621734", "pmid:40585812", "pmid:40581653", "pmid:40541176", "pmid:40536530", "pmid:40513650", "pmid:40504117", "pmid:40478310", "pmid:40426848", "pmid:40424855", "pmid:40411682", "pmid:40375307", "pmid:40349639", "pmid:40349338", "pmid:40346885", "pmid:40260680", "pmid:40250093", "pmid:40207633", "pmid:40203833", "pmid:40196659", "pmid:40150989", "pmid:40138021", "pmid:40073860", "pmid:40053600", "pmid:40050010", "pmid:40027671", "pmid:40000803", "pmid:39975241", "pmid:39957101", "pmid:39945490", "pmid:39920674", "pmid:39913612", "pmid:39894561", "pmid:39893487", "pmid:39869842", "pmid:39809899", "pmid:39779704", "pmid:39779681", "pmid:39764003", "pmid:39747573", "pmid:39730482", "pmid:39722074", "pmid:39711523", "pmid:39703094", "pmid:39670345", "pmid:39669124", "pmid:39638345", "pmid:39621905", "pmid:39589881", "pmid:39581338", "pmid:39569145", "pmid:39437787", "pmid:39417137", "pmid:39382125", "pmid:39345637", "pmid:39339364", "pmid:39323877", "pmid:39316747", "pmid:39316038", "pmid:39311028", "pmid:39289761", "pmid:39288267", "pmid:39282230", "pmid:39268612", "pmid:39270726", "pmid:39260140", "pmid:39256877", "pmid:39254359", "pmid:39253499", "pmid:39246336", "pmid:39233852", "pmid:39229486", "pmid:39222049", "pmid:39181135", "pmid:39146722", "pmid:39106320", "pmid:39098187", "pmid:39088455", "pmid:39059407", "pmid:39058450", "pmid:39056697", "pmid:39042693", "pmid:39000564", "pmid:38935506", "pmid:38915937", "pmid:38902980", "pmid:38896262", "pmid:38884646", "pmid:38876108", "pmid:38860430", "pmid:38852112", "pmid:38847891", "pmid:38799643", "pmid:38796984", "pmid:38753768", "pmid:38751620", "pmid:38746326", "pmid:38734896", "pmid:38722513", "pmid:38684907", "pmid:38667292", "pmid:38658168", "pmid:38641715", "pmid:38625400", "pmid:38621131", "pmid:38615685", "pmid:38613988", "pmid:38606777", "pmid:38585915", "pmid:38568044", "pmid:38556190", "pmid:38495583", "pmid:38464738", "pmid:38444607", "pmid:38431841", "pmid:38412259", "pmid:38397958", "pmid:38394210", "pmid:38376483", "pmid:38295729", "pmid:38312023", "pmid:38301895", "pmid:38260655", "pmid:38242117", "pmid:38234062", "pmid:38229533", "pmid:38191789", "pmid:38168370", "pmid:38168171", "pmid:38112783", "pmid:38110419", "pmid:38092738", "pmid:38064514", "pmid:38019311", "pmid:38009843", "pmid:37948524", "pmid:37891975", "pmid:37861203", "pmid:37845749", "pmid:37839080", "pmid:37827570", "pmid:37808871", "pmid:37791472", "pmid:37763163", "pmid:37736756", "pmid:37723585", "pmid:37714849", "pmid:37693322", "pmid:37686239", "pmid:37675986", "pmid:37648532", "pmid:37644512", "pmid:37590144", "pmid:37574738", "pmid:37548032", "pmid:37545231", "pmid:37527465", "pmid:37511014", "pmid:37471224", "pmid:37461319", "pmid:37450566", "pmid:37421883", "pmid:37399804", "pmid:37386798", "pmid:37379724", "pmid:37365312", "pmid:37339631", "pmid:37334257", "pmid:37333274", "pmid:37333144", "pmid:37332610", "pmid:37317656", "pmid:37294668", "pmid:37288312", "pmid:37223130", "pmid:37202167", "pmid:37178170", "pmid:37173134", "pmid:37147520", "pmid:37146135", "pmid:37138766", "pmid:37138765", "pmid:37133535", "pmid:37107688", "pmid:37080969", "pmid:37073950", "pmid:37043475", "pmid:37015082", "pmid:37010807", "pmid:37006326", "pmid:36963214", "pmid:36936421", "pmid:36857431", "pmid:36823368", "pmid:36822200", "pmid:36799407", "pmid:36764521", "pmid:36711601", "pmid:36650645", "pmid:36638803", "pmid:36619668", "pmid:36549973", "pmid:36515702", "pmid:36511680", "pmid:36511398", "pmid:36494425", "pmid:36482247", "pmid:36458975", "pmid:36454749", "pmid:36446586", "pmid:36443488", "pmid:36438488", "pmid:36409902", "pmid:36379394", "pmid:36373318", "pmid:36345033", "pmid:36322143", "pmid:36308529", "pmid:36271076", "pmid:36252286", "pmid:36226890", "pmid:36220889", "pmid:36219176", "pmid:36217158", "pmid:36202819", "pmid:36151083", "pmid:36148898", "pmid:36130523", "pmid:36108486", "pmid:36103513", "pmid:38933387", "pmid:36070099", "pmid:36008116", "pmid:35989899", "pmid:35974122", "pmid:35933239", "pmid:35908282", "pmid:35906014", "pmid:35903771", "pmid:35895140", "pmid:35876881", "pmid:35869263", "pmid:35843530", "pmid:35813024", "pmid:35793625", "pmid:35766328", "pmid:35752680", "pmid:35746899", "pmid:35726380", "pmid:35675776", "pmid:35661131", "pmid:35633169", "pmid:35625816", "pmid:35599735", "pmid:35594156", "pmid:35592494", "pmid:35589711", "pmid:35568435", "pmid:35525134", "pmid:35462091", "pmid:35383205", "pmid:35379876", "pmid:35379698", "pmid:35314728", "pmid:35295181", "pmid:35259014", "pmid:35189395", "pmid:35182509", "pmid:35171477", "pmid:35152451", "pmid:35096836", "pmid:35091648", "pmid:35052416", "pmid:35047667", "pmid:35026048", "pmid:35007998", "pmid:34978044", "pmid:34949835", "pmid:34915153", "pmid:34853325", "pmid:34848561", "pmid:34827542", "pmid:34791698", "pmid:34723963", "pmid:34717271", "pmid:34705518", "pmid:34687211", "pmid:34677935", "pmid:34654821", "pmid:34638725", "pmid:34573259", "pmid:34542927", "pmid:34534264", "pmid:34526954", "pmid:34475377", "pmid:34450161", "pmid:34440384", "pmid:34435379", "pmid:34431456", "pmid:34404558", "pmid:34397416", "pmid:34389718", "pmid:34389711", "pmid:34386583", "pmid:34382491", "pmid:34376242", "pmid:34328616", "pmid:34318620", "pmid:34310040", "pmid:34305575", "pmid:34297726", "pmid:34233951", "pmid:34229542", "pmid:34209673", "pmid:34187866", "pmid:34179866", "pmid:34174288", "pmid:34172817", "pmid:34170347", "pmid:34168085", "pmid:34157654", "pmid:34152475", "pmid:34140881", "pmid:34133945", "pmid:34118929", "pmid:34099711", "pmid:34093394", "pmid:34051439", "pmid:34048588", "pmid:33977144", "pmid:33967699", "pmid:33935096", "pmid:33906932", "pmid:33892814", "pmid:33889947", "pmid:33857770", "pmid:33837088", "pmid:33833668", "pmid:33830997", "pmid:33815737", "pmid:33789100", "pmid:33788382", "pmid:33741069", "pmid:33739284", "pmid:33737586", "pmid:33730968", "pmid:33726839", "pmid:33709219", "pmid:33705846", "pmid:33663561", "pmid:33661518", "pmid:33619157", "pmid:33601107", "pmid:33588953", "pmid:33558503", "pmid:33554115", "pmid:33482083", "pmid:33431483", "pmid:33414559", "pmid:33409820", "pmid:33378537", "pmid:33377399", "pmid:33376800", "pmid:33363944", "pmid:33329355", "pmid:33300868", "pmid:33276461", "pmid:33253636", "pmid:33196168", "pmid:33168090", "pmid:33168078", "pmid:33149115", "pmid:33131137", "pmid:33129345", "pmid:33123074", "pmid:33058338", "pmid:33055142", "pmid:33022226", "pmid:32989102", "pmid:32961393", "pmid:32958650", "pmid:32954321", "pmid:32949047", "pmid:32921502", "pmid:32894207", "pmid:32878979", "pmid:32865792", "pmid:32845284", "pmid:32843153", "pmid:32843152", "pmid:32830871", "pmid:32823188", "pmid:32821252", "pmid:32769055", "pmid:32759310", "pmid:32755582", "pmid:32721467", "pmid:32683569", "pmid:32675418", "pmid:32638105", "pmid:32628322", "pmid:32554322", "pmid:32521185", "pmid:32504093", "pmid:32500377", "pmid:32485711", "pmid:32483373", "pmid:32441885", "pmid:32421156", "pmid:32410933", "pmid:32385536", "pmid:32375063", "pmid:32375043", "pmid:32347002", "pmid:32338076", "pmid:32296747", "pmid:32284607", "pmid:32281118", "pmid:32278549", "pmid:32226938", "pmid:32223927", "pmid:32184029", "pmid:32180125", "pmid:32175624", "pmid:32151952", "pmid:32132225", "pmid:32125773", "pmid:32123048", "pmid:32119645", "pmid:32100453", "pmid:32093728", "pmid:32084385", "pmid:32082115", "pmid:32070418", "pmid:32059759", "pmid:32042907", "pmid:32035967", "pmid:32035847", "pmid:32000838", "pmid:31991801", "pmid:31930538", "pmid:31925813", "pmid:31858749", "pmid:31852251", "pmid:31847700", "pmid:31843021", "pmid:31836585", "pmid:31831332", "pmid:31810584", "pmid:31800202", "pmid:31791419", "pmid:31702465", "pmid:31676125", "pmid:31651360", "pmid:31649034", "pmid:31647549", "pmid:31642962", "pmid:31637556", "pmid:31633109", "pmid:31625563", "pmid:31624333", "pmid:31619481", "pmid:31594549", "pmid:31587919", "pmid:31586943", "pmid:31582231", "pmid:31579943", "pmid:31578297", "pmid:31561355", "pmid:31559531", "pmid:31551693", "pmid:31530427", "pmid:31499409", "pmid:31475037", "pmid:31444357", "pmid:31439573", "pmid:31432691", "pmid:31375896", "pmid:31358992", "pmid:31327044", "pmid:31325016", "pmid:31205123", "pmid:31176718", "pmid:31156370", "pmid:31127772", "pmid:31086314", "pmid:31041398", "pmid:31036086", "pmid:31019099", "pmid:31019093", "pmid:31009932", "pmid:31007077", "pmid:30992335", "pmid:30992141", "pmid:30992063", "pmid:30985904", "pmid:30981631", "pmid:30979436", "pmid:30945056", "pmid:30938419", "pmid:30863279", "pmid:30861516", "pmid:30859373", "pmid:30846540", "pmid:30790403", "pmid:30777654", "pmid:30767771", "pmid:30739198", "pmid:30714955", "pmid:30711674", "pmid:30685122", "pmid:30643298", "pmid:30617627", "pmid:30617154", "pmid:30610877", "pmid:30554355", "pmid:30550541", "pmid:30530974", "pmid:30528349", "pmid:30527999", "pmid:30454072", "pmid:30447080", "pmid:30396881", "pmid:30356970", "pmid:30349864", "pmid:30347338", "pmid:30337192", "pmid:30336474", "pmid:30320585", "pmid:30312838", "pmid:30310141", "pmid:30261505", "pmid:30252044", "pmid:30239641", "pmid:30233460", "pmid:30213863", "pmid:30210275", "pmid:30150298", "pmid:30126445", "pmid:30109267", "pmid:30099204", "pmid:30093141", "pmid:30090657", "pmid:30075745", "pmid:30023173", "pmid:30022074", "pmid:29973287", "pmid:29957385", "pmid:29942091", "pmid:29912891", "pmid:29895397", "pmid:29889265", "pmid:29866399", "pmid:29861044", "pmid:29859640", "pmid:29855382", "pmid:29848387", "pmid:29801887", "pmid:29761121", "pmid:29750243", "pmid:29748150", "pmid:29738460", "pmid:29628143", "pmid:29610297", "pmid:29598923", "pmid:29525180", "pmid:29507424", "pmid:29493298", "pmid:29480190", "pmid:29480183", "pmid:29479499", "pmid:29476165", "pmid:29449030", "pmid:29441485", "pmid:29439323", "pmid:29400714", "pmid:29380049", "pmid:29367641", "pmid:29352617", "pmid:29352102", "pmid:29316893", "pmid:29302060", "pmid:29281254", "pmid:29274668", "pmid:29264395", "pmid:29222490", "pmid:29216908", "pmid:29196813", "pmid:29170628", "pmid:29166782", "pmid:29149615", "pmid:29131108", "pmid:29113975", "pmid:29095328", "pmid:29080331", "pmid:29056323", "pmid:29055436", "pmid:29049464", "pmid:29036691", "pmid:28973350", "pmid:28889094", "pmid:28887402", "pmid:28827593", "pmid:28808785", "pmid:28803727", "pmid:28749476", "pmid:28720882", "pmid:28714954", "pmid:28677678", "pmid:28666709", "pmid:28660252", "pmid:28642336", "pmid:28637276", "pmid:28614712", "pmid:28606110", "pmid:28570551", "pmid:28551275", "pmid:28550099", "pmid:28542233", "pmid:28539470", "pmid:28527524", "pmid:28508101", "pmid:28491898", "pmid:28482638", "pmid:28481984", "pmid:28462717", "pmid:28452351", "pmid:28439722", "pmid:28431575", "pmid:28420437", "pmid:28408402", "pmid:28387671", "pmid:28365006", "pmid:28356511", "pmid:28351931", "pmid:28334866", "pmid:28322003", "pmid:28320191", "pmid:28306503", "pmid:28222900", "pmid:28197542", "pmid:28192553", "pmid:28160950", "pmid:28158451", "pmid:28132891", "pmid:28131227", "pmid:28124431", "pmid:28116236", "pmid:28105640", "pmid:28103472", "pmid:28089114", "pmid:28088213", "pmid:28010125", "pmid:28003435", "pmid:27936955", "pmid:27933757", "pmid:27875531", "pmid:27797809", "pmid:27796305", "pmid:27790088", "pmid:27688759", "pmid:27739539", "pmid:27773700", "pmid:27595458", "pmid:27768896", "pmid:27756805", "pmid:27720481", "pmid:27732842", "pmid:27671483", "pmid:27666590", "pmid:27663272", "pmid:27652840", "pmid:27646412", "pmid:27623008", "pmid:27617292", "pmid:27516603", "pmid:27480424", "pmid:27473499", "pmid:27461252", "pmid:27413586", "pmid:27400454", "pmid:27388677", "pmid:27375918", "pmid:27369896", "pmid:27334615", "pmid:27327087", "pmid:27288208", "pmid:27274540", "pmid:27245636", "pmid:27241037", "pmid:27195002", "pmid:27193190", "pmid:27151634", "pmid:27112497", "pmid:27097283", "pmid:27079381", "pmid:26998601", "pmid:26979938", "pmid:26967212", "pmid:26931465", "pmid:26925510", "pmid:26919046", "pmid:26915990", "pmid:26903389", "pmid:26878348", "pmid:26862832", "pmid:26839080", "pmid:26810537", "pmid:26785370", "pmid:26777436", "pmid:26769963", "pmid:26746986", "pmid:26735706", "pmid:26733254", "pmid:26728149", "pmid:26725464", "pmid:26723138", "pmid:28337409", "pmid:26691640", "pmid:26690922", "pmid:26674655", "pmid:26637797", "pmid:26632347", "pmid:26599997", "pmid:26584779", "pmid:26551617", "pmid:26547294", "pmid:26538301", "pmid:26526532", "pmid:26497991", "pmid:26481318", "pmid:26463209", "pmid:26437865", "pmid:29213991", "pmid:26408000", "pmid:26401819", "pmid:26374446", "pmid:26350237", "pmid:26348842", "pmid:26347457", "pmid:26308983", "pmid:26308899", "pmid:26308891", "pmid:26304661", "pmid:26275564", "pmid:26254955", "pmid:26234378", "pmid:26233805", "pmid:26174152", "pmid:26166205", "pmid:26146826", "pmid:26142124", "pmid:26108573", "pmid:26099177", "pmid:26095883", "pmid:26083476", "pmid:26044557", "pmid:26031661", "pmid:26022924", "pmid:26016851", "pmid:25977373", "pmid:25943890", "pmid:25943887", "pmid:25934183", "pmid:25835037", "pmid:25795648", "pmid:25791939", "pmid:25788698", "pmid:25756586", "pmid:25732802", "pmid:25716178", "pmid:25712133", "pmid:25637145", "pmid:25618255", "pmid:25617006", "pmid:25595499", "pmid:25585530", "pmid:25531686", "pmid:25467142", "pmid:25457023", "pmid:25442110", "pmid:25436637", "pmid:25433797", "pmid:25433461", "pmid:25388784", "pmid:25377888", "pmid:25326098", "pmid:25319030", "pmid:25308964", "pmid:25284081", "pmid:25281017", "pmid:25273996", "pmid:25248608", "pmid:25239657", "pmid:25210488", "pmid:25207541", "pmid:25203513", "pmid:25185840", "pmid:25182743", "pmid:25179228", "pmid:25173361", "pmid:25158292", "pmid:25156163", "pmid:25147206", "pmid:25132468", "pmid:25123918", "pmid:25120191", "pmid:25115936", "pmid:25111021", "pmid:25108559", "pmid:25098532", "pmid:25085782", "pmid:25081482", "pmid:25034271", "pmid:24950788", "pmid:24928930", "pmid:24908669", "pmid:24908169", "pmid:24898647", "pmid:24866401", "pmid:24866055", "pmid:24861139", "pmid:24819148", "pmid:24806409", "pmid:24803912", "pmid:24798095", "pmid:24756204", "pmid:24733620", "pmid:24706941", "pmid:24704492", "pmid:24667415", "pmid:24650794", "pmid:24612676", "pmid:24598541", "pmid:24573903", "pmid:24559645", "pmid:24549040", "pmid:24530272", "pmid:24445987", "pmid:24442578", "pmid:24439166", "pmid:24417314", "pmid:24387986", "pmid:24387985", "pmid:24385136", "pmid:24378086", "pmid:24363131", "pmid:24355526", "pmid:24329881", "pmid:24319645", "pmid:24309270", "pmid:24286341", "pmid:24269022", "pmid:24269018", "pmid:24252571", "pmid:24252525", "pmid:24248382", "pmid:24212388", "pmid:24179835", "pmid:24170096", "pmid:24169076", "pmid:24166615", "pmid:24154603", "pmid:24139042", "pmid:24129584", "pmid:24126854", "pmid:24121957", "pmid:24107864", "pmid:24096617", "pmid:24080172", "pmid:24077574", "pmid:24068985", "pmid:24057670", "pmid:24053774", "pmid:24052799", "pmid:24027057", "pmid:24011653", "pmid:23998997", "pmid:23987827", "pmid:23973441", "pmid:23962495", "pmid:23922030", "pmid:23894576", "pmid:23884045", "pmid:23870417", "pmid:23869403", "pmid:23845100", "pmid:23836460", "pmid:23836290", "pmid:23818065", "pmid:23771489", "pmid:23731538", "pmid:23720273", "pmid:23695224", "pmid:23686809", "pmid:23597494", "pmid:23588498", "pmid:23588422", "pmid:23587638", "pmid:23566336", "pmid:23553481", "pmid:23551834", "pmid:23548882", "pmid:23473366", "pmid:23437264", "pmid:23435409", "pmid:23434116", "pmid:23423380", "pmid:23421625", "pmid:23415312", "pmid:23413259", "pmid:23383383", "pmid:23381195", "pmid:23358603", "pmid:23352322", "pmid:23338750", "pmid:23338682", "pmid:23329412", "pmid:23284068", "pmid:23273600", "pmid:23261768", "pmid:23254636", "pmid:23216213", "pmid:23199140", "pmid:23151261", "pmid:23141412", "pmid:23117491", "pmid:23116878", "pmid:23107433", "pmid:23088937", "pmid:23085936", "pmid:23084342", "pmid:23063644", "pmid:23053136", "pmid:23053135", "pmid:23036583", "pmid:23035801", "pmid:23016833", "pmid:23012445", "pmid:23006986", "pmid:22993125", "pmid:22985429", "pmid:22964911", "pmid:22936364", "pmid:22918453", "pmid:22898310", "pmid:22892647", "pmid:22878164", "pmid:22875087", "pmid:22875086", "pmid:22843265", "pmid:22840558", "pmid:22818528", "pmid:22815561", "pmid:22766732", "pmid:22766072", "pmid:22742426", "pmid:22739338", "pmid:22727276", "pmid:22721568", "pmid:22720079", "pmid:22708871", "pmid:22702520", "pmid:22692064", "pmid:22673113", "pmid:22650353", "pmid:22645277", "pmid:22637471", "pmid:22637429", "pmid:22571983", "pmid:22564974", "pmid:22550220", "pmid:22507827", "pmid:22502998", "pmid:22499346", "pmid:22483864", "pmid:22459598", "pmid:22426854", "pmid:22418734", "pmid:22410647", "pmid:22406229", "pmid:22399793", "pmid:22366794", "pmid:22366793", "pmid:22366792", "pmid:22366791", "pmid:22343411", "pmid:22305801", "pmid:22300876", "pmid:22300873", "pmid:22228244", "pmid:22216764", "pmid:22181065", "pmid:22154785", "pmid:22101323", "pmid:22083254", "pmid:21944779"]
},
{
"id": "SCA6_CACNA1A",
@@ -1088,8 +1088,8 @@
"webstr_hg19": ["Expansion_SCA6/CACNA1A"],
"locus_tags": ["length_affects_phenotype", "length_affects_penetrance", "length_affects_onset"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["genereviews:NBK1140", "pmid:23331413", "doi:10.1212/NXG.0000000000200245", "pmid:41951733", "pmid:29100084", "pmid:8988170", "mondo:0008457", "pmid:41358280"],
- "additional_literature": ["pmid:42038259", "pmid:41951733", "pmid:41771688", "pmid:41762523", "pmid:41612618", "pmid:41082794", "pmid:41009775", "pmid:40906330", "pmid:40900235", "pmid:40879304", "pmid:40746751", "pmid:40488180", "pmid:40189664", "pmid:39812846", "pmid:39571249", "pmid:39152783", "pmid:39048885", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37307504", "pmid:37301203", "pmid:36618024", "pmid:36599645", "pmid:36530930", "pmid:35962273", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34647648", "pmid:34600502", "pmid:34565721", "pmid:34371182", "pmid:34159894", "pmid:33502644", "pmid:33121221", "pmid:32888184", "pmid:32822634", "pmid:31522753", "pmid:30891880", "pmid:30591349", "pmid:30342765", "pmid:30314815", "pmid:30120431", "pmid:30078120", "pmid:29959555", "pmid:29553382", "pmid:29367260", "pmid:29316893", "pmid:29249939", "pmid:29111027", "pmid:29057148", "pmid:28946818", "pmid:28782341", "pmid:28585930", "pmid:28444220", "pmid:28131213", "pmid:27979829", "pmid:27896316", "pmid:27848087", "pmid:27806289", "pmid:27412786", "pmid:27400454", "pmid:27333979", "pmid:26730403", "pmid:26377379", "pmid:26374734", "pmid:26354989", "pmid:26077168", "pmid:26054379", "pmid:25634432", "pmid:25624155", "pmid:25466696", "pmid:24780882", "pmid:24534762", "pmid:24486772", "pmid:24209901", "pmid:23423669", "pmid:23407676", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:26859398", "pmid:26676458", "pmid:21832228", "pmid:21550405", "pmid:20069235", "pmid:19631275", "pmid:19429075", "pmid:19259763", "pmid:19224313", "pmid:18949263", "pmid:18759344", "pmid:18687887", "pmid:18685131", "pmid:18684474", "pmid:18506570", "pmid:18418678", "pmid:18285829", "pmid:18074367", "pmid:17961920", "pmid:17682009", "pmid:17516099", "pmid:17420317", "pmid:16396623", "pmid:16389595", "pmid:16310805", "pmid:16000334", "pmid:15875905", "pmid:15747371", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14534930", "pmid:12810491", "pmid:12764052", "pmid:12676347", "pmid:12614315", "pmid:12545428", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11717352", "pmid:11708993", "pmid:11448300", "pmid:11355155", "pmid:11341481", "pmid:11311290", "pmid:11176970", "pmid:11160961", "pmid:10369884", "pmid:11081813", "pmid:11030410", "pmid:10985694", "pmid:10964945", "pmid:10945665", "pmid:10942107", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10690991", "pmid:10674974", "pmid:10601803", "pmid:10453742", "pmid:10442462", "pmid:10369863", "pmid:10369828", "pmid:10366652", "pmid:10225349", "pmid:9973298", "pmid:9915947", "pmid:9879686", "pmid:9855520", "pmid:9779664", "pmid:9758625", "pmid:9741473", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9600677", "pmid:9559993", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9371901", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9345107", "pmid:9339681", "pmid:9302278", "pmid:9311738", "pmid:9259275", "pmid:9259274", "pmid:10464657", "pmid:9043864"]
+ "references": ["genereviews:NBK1140", "pmid:23331413", "pmid:39996131", "pmid:41951733", "pmid:29100084", "pmid:8988170", "mondo:0008457", "pmid:41358280"],
+ "additional_literature": ["pmid:42337487", "pmid:42196324", "pmid:42038259", "pmid:41771688", "pmid:41762523", "pmid:41082794", "pmid:41009775", "pmid:40906330", "pmid:40900235", "pmid:40879304", "pmid:40746751", "pmid:40488180", "pmid:40189664", "pmid:39812846", "pmid:39571249", "pmid:39152783", "pmid:39048885", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37307504", "pmid:37301203", "pmid:36618024", "pmid:36599645", "pmid:36530930", "pmid:35962273", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34647648", "pmid:34600502", "pmid:34565721", "pmid:34371182", "pmid:34159894", "pmid:33502644", "pmid:33121221", "pmid:32888184", "pmid:32822634", "pmid:31522753", "pmid:30891880", "pmid:30591349", "pmid:30342765", "pmid:30314815", "pmid:30120431", "pmid:30078120", "pmid:29959555", "pmid:29553382", "pmid:29367260", "pmid:29316893", "pmid:29249939", "pmid:29111027", "pmid:29057148", "pmid:28946818", "pmid:28782341", "pmid:28585930", "pmid:28444220", "pmid:28131213", "pmid:27979829", "pmid:27896316", "pmid:27848087", "pmid:27806289", "pmid:27412786", "pmid:27400454", "pmid:27333979", "pmid:26730403", "pmid:26377379", "pmid:26374734", "pmid:26354989", "pmid:26077168", "pmid:26054379", "pmid:25634432", "pmid:25624155", "pmid:25466696", "pmid:24780882", "pmid:24534762", "pmid:24486772", "pmid:24209901", "pmid:23423669", "pmid:23407676", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:26859398", "pmid:26676458", "pmid:21832228", "pmid:21550405", "pmid:20069235", "pmid:19631275", "pmid:19429075", "pmid:19259763", "pmid:19224313", "pmid:18949263", "pmid:18759344", "pmid:18687887", "pmid:18685131", "pmid:18684474", "pmid:18506570", "pmid:18418678", "pmid:18285829", "pmid:18074367", "pmid:17961920", "pmid:17682009", "pmid:17516099", "pmid:17420317", "pmid:16396623", "pmid:16389595", "pmid:16310805", "pmid:16000334", "pmid:15875905", "pmid:15747371", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14534930", "pmid:12810491", "pmid:12764052", "pmid:12676347", "pmid:12614315", "pmid:12545428", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11717352", "pmid:11708993", "pmid:11448300", "pmid:11355155", "pmid:11341481", "pmid:11311290", "pmid:11176970", "pmid:11160961", "pmid:10369884", "pmid:11081813", "pmid:11030410", "pmid:10985694", "pmid:10964945", "pmid:10945665", "pmid:10942107", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10690991", "pmid:10674974", "pmid:10601803", "pmid:10453742", "pmid:10442462", "pmid:10369863", "pmid:10369828", "pmid:10366652", "pmid:10225349", "pmid:9973298", "pmid:9915947", "pmid:9879686", "pmid:9855520", "pmid:9779664", "pmid:9758625", "pmid:9741473", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9600677", "pmid:9559993", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9371901", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9345107", "pmid:9339681", "pmid:9302278", "pmid:9311738", "pmid:9259275", "pmid:9259274", "pmid:10464657", "pmid:9043864"]
},
{
"id": "JBS_CBL",
@@ -1227,8 +1227,8 @@
"webstr_hg19": [],
"locus_tags": ["contraction", "motif_affects_pathogenicity"],
"disease_tags": [],
- "references": ["pmid:19760265", "pmid:16369531", "pmid:39361122", "omim:609812"],
- "additional_literature": ["pmid:41894686", "pmid:41057236", "pmid:40840513", "pmid:40641008", "pmid:39710966", "pmid:38483348", "pmid:38473919", "pmid:38458477", "pmid:36379850", "pmid:35583610", "pmid:35215948", "pmid:35156195", "pmid:35082198", "pmid:34850019", "pmid:34507899", "pmid:34100900", "pmid:33862081", "pmid:27802312", "pmid:27650499", "pmid:27773618", "pmid:23395566", "pmid:21784842", "pmid:15841033"]
+ "references": ["pmid:19760265", "pmid:21784842", "pmid:27650499", "pmid:33862081", "pmid:38483348", "pmid:34850019", "pmid:39361122", "pmid:16369531", "omim:609812", "genereviews:NBK500456", "pmid:18544793"],
+ "additional_literature": ["pmid:41894686", "pmid:41057236", "pmid:40840513", "pmid:40641008", "pmid:39710966", "pmid:38473919", "pmid:38458477", "pmid:36379850", "pmid:35583610", "pmid:35215948", "pmid:35156195", "pmid:35082198", "pmid:34507899", "pmid:34100900", "pmid:27802312", "pmid:27773618", "pmid:23395566", "pmid:15841033"]
},
{
"id": "DM2_CNBP",
@@ -1309,7 +1309,7 @@
"webstr_hg19": [],
"locus_tags": ["somatic_instability", "motif_affects_instability"],
"disease_tags": ["myotonic_dystrophy"],
- "references": ["pmid:29086017", "pmid:31159885", "pmid:22140091", "pmid:38467784", "pmid:42003432", "pmid:39643839", "genereviews:NBK1466", "pmid:35245110", "pmid:39703464", "pmid:35483324", "pmid:11486088", "mondo:0011266"],
+ "references": ["pmid:29086017", "pmid:31159885", "pmid:22140091", "pmid:38467784", "pmid:42003432", "genereviews:NBK1466", "pmid:35245110", "pmid:39703464", "pmid:35483324", "pmid:11486088", "mondo:0011266"],
"additional_literature": ["pmid:42094143", "pmid:41937177", "pmid:41610137", "pmid:41074692", "pmid:40113266", "pmid:39894140", "pmid:39240646", "pmid:39119544", "pmid:38922834", "pmid:37950892", "pmid:37461657", "pmid:37146135", "pmid:36778282", "pmid:36018009", "pmid:35945246", "pmid:35567413", "pmid:34101465", "pmid:34024776", "pmid:33595997", "pmid:31981476", "pmid:31927948", "pmid:30984523", "pmid:30140252", "pmid:30100878", "pmid:29973908", "pmid:29291944", "pmid:28623239", "pmid:28491317", "pmid:28130447", "pmid:27727437", "pmid:27222292", "pmid:26586700", "pmid:25443993", "pmid:25186227", "pmid:24907641", "pmid:23570879", "pmid:22723857", "pmid:22643181", "pmid:22587749", "pmid:22459146", "pmid:22332444", "pmid:22062891", "pmid:21303839", "pmid:21224892", "pmid:21204798", "pmid:20971734", "pmid:20491895", "pmid:20174632", "pmid:19683984", "pmid:19632331", "pmid:19218442", "pmid:18804219", "pmid:18213375", "pmid:16927100", "pmid:16624843", "pmid:16376058", "pmid:15718211", "pmid:15704146", "pmid:15322428", "pmid:15231584", "pmid:15215218", "pmid:15114529", "pmid:15019706", "pmid:14505273", "pmid:12970845", "pmid:12601109"]
},
{
@@ -1448,7 +1448,7 @@
"webstr_hg19": [],
"locus_tags": [],
"disease_tags": ["epilepsy"],
- "references": ["pmid:40751262", "pmid:39107278", "pmid: 39107278"],
+ "references": ["pmid:40751262", "pmid:39107278"],
"additional_literature": []
},
{
@@ -1803,8 +1803,8 @@
"webstr_hg19": ["Expansion_DM1/DMPK"],
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_phenotype", "motif_affects_severity"],
"disease_tags": ["myotonic_dystrophy"],
- "references": ["genereviews:NBK1165", "pmid:38454488", "pmid:36169768", "pmid:39932794", "pmid:40259070", "pmid:41929128", "pmid:39643839", "pmid:32851192", "doi:10.1016/j.mcp.2024.102005", "pmid:35741732", "doi:10.1093/hmg/ddae186", "pmid:29100084", "pmid:31159885", "pmid:35483324", "pmid:1310900", "mondo:0008056", "pmid:29361396", "pmid:8810716", "pmid:27695335", "pmid:29871899", "pmid:37209486"],
- "additional_literature": ["pmid:41996006", "pmid:41974889", "pmid:41951733", "pmid:41946260", "pmid:41855125", "pmid:41848171", "pmid:41766784", "pmid:41762523", "pmid:41722569", "pmid:41710065", "pmid:41707138", "pmid:41672630", "pmid:41610137", "pmid:41533635", "pmid:41379996", "pmid:41260620", "pmid:41250834", "pmid:41226829", "pmid:41212113", "pmid:41161721", "pmid:41074692", "pmid:40903903", "pmid:40896579", "pmid:40879030", "pmid:40712995", "pmid:40606545", "pmid:40599975", "pmid:40417743", "pmid:40296143", "pmid:40113266", "pmid:40092662", "pmid:40004498", "pmid:39710066", "pmid:39679849", "pmid:39492694", "pmid:39433769", "pmid:39415708", "pmid:39391712", "pmid:39383229", "pmid:39278936", "pmid:39267217", "pmid:39273681", "pmid:39232665", "pmid:39180495", "pmid:39126705", "pmid:38709060", "pmid:38704930", "pmid:38490135", "pmid:38314057", "pmid:37829280", "pmid:37744174", "pmid:37645891", "pmid:37638448", "pmid:37521782", "pmid:37397246", "pmid:37373276", "pmid:37352653", "pmid:37200862", "pmid:37146135", "pmid:37143315", "pmid:36892629", "pmid:36778282", "pmid:36701310", "pmid:36627397", "pmid:36352383", "pmid:36230978", "pmid:36222125", "pmid:36099027", "pmid:36084803", "pmid:36011377", "pmid:35770133", "pmid:35767654", "pmid:35567413", "pmid:35328504", "pmid:35243403", "pmid:35182509", "pmid:34976437", "pmid:34915310", "pmid:34513303", "pmid:34472530", "pmid:34432028", "pmid:34386887", "pmid:34372915", "pmid:34371182", "pmid:34262431", "pmid:34114350", "pmid:34025359", "pmid:33682722", "pmid:33624941", "pmid:33575482", "pmid:33526774", "pmid:33497365", "pmid:33363709", "pmid:33362853", "pmid:33235377", "pmid:32929188", "pmid:32823742", "pmid:32717741", "pmid:32656337", "pmid:32607474", "pmid:32350131", "pmid:32203199", "pmid:32109384", "pmid:32063450", "pmid:31996899", "pmid:31873063", "pmid:31759551", "pmid:31649961", "pmid:31624084", "pmid:31570586", "pmid:31395669", "pmid:31334355", "pmid:31316546", "pmid:31253581", "pmid:31227653", "pmid:31220271", "pmid:31164682", "pmid:31027145", "pmid:30891637", "pmid:30700578", "pmid:30615214", "pmid:30546383", "pmid:30425655", "pmid:30304901", "pmid:30216892", "pmid:30140252", "pmid:29967337", "pmid:29947794", "pmid:29592894", "pmid:29551391", "pmid:29381654", "pmid:29334465", "pmid:29274549", "pmid:29246312", "pmid:29114849", "pmid:28942489", "pmid:28886202", "pmid:28810563", "pmid:28782311", "pmid:28623239", "pmid:28435090", "pmid:28363916", "pmid:28211918", "pmid:28129118", "pmid:28102759", "pmid:27854230", "pmid:27727437", "pmid:27358583", "pmid:27245480", "pmid:27222292", "pmid:26708183", "pmid:26640575", "pmid:26586700", "pmid:26498872", "pmid:26190529", "pmid:25958258", "pmid:25712547", "pmid:25655594", "pmid:25606394", "pmid:25307018", "pmid:25303993", "pmid:25168381", "pmid:24824895", "pmid:24795756", "pmid:24781112", "pmid:24715907", "pmid:24705798", "pmid:24455202", "pmid:24269018", "pmid:24196578", "pmid:24092878", "pmid:23811192", "pmid:23570879", "pmid:23308382", "pmid:26317000", "pmid:23263591", "pmid:23209425", "pmid:23183533", "pmid:23161457", "pmid:23159592", "pmid:23139243", "pmid:22643181", "pmid:22595968", "pmid:22459146", "pmid:22427994", "pmid:22078098", "pmid:22062891", "pmid:21971425", "pmid:21949239", "pmid:21511730", "pmid:21303839", "pmid:21245981", "pmid:21204798", "pmid:21103235", "pmid:20801043", "pmid:20635151", "pmid:20603324", "pmid:20346670", "pmid:20228473", "pmid:20179953", "pmid:20171614", "pmid:20074967", "pmid:19946639", "pmid:19715468", "pmid:19632331", "pmid:19516957", "pmid:19470458", "pmid:18798829", "pmid:18729234", "pmid:18611984", "pmid:18563724", "pmid:18561181", "pmid:18559347", "pmid:18299519", "pmid:18228241", "pmid:18213375", "pmid:17987120", "pmid:17950578", "pmid:17877752", "pmid:17728322", "pmid:17487865", "pmid:17158949", "pmid:17150182", "pmid:17145685", "pmid:17114933", "pmid:16978612", "pmid:16927100", "pmid:16716318", "pmid:16624843", "pmid:16401743", "pmid:16376058", "pmid:16193250", "pmid:16027111", "pmid:15972723", "pmid:15961406", "pmid:15750273", "pmid:15684391", "pmid:15576360", "pmid:15489504", "pmid:15462191", "pmid:15459182", "pmid:15336691", "pmid:15215218", "pmid:15114529", "pmid:15019706", "pmid:14734627", "pmid:14597103", "pmid:12970845", "pmid:12630069", "pmid:12614928", "pmid:12427866", "pmid:11978764", "pmid:11809728", "pmid:11793472", "pmid:11726559", "pmid:11686919", "pmid:11592825", "pmid:11590133", "pmid:11555624", "pmid:11526199", "pmid:11260612", "pmid:11124939", "pmid:11013451", "pmid:11001736", "pmid:10970838", "pmid:10958655", "pmid:10951446", "pmid:10909850", "pmid:10802668", "pmid:10802667", "pmid:10767343", "pmid:10699184", "pmid:10668800", "pmid:10480373", "pmid:10454725", "pmid:10435210", "pmid:10332037", "pmid:10332033", "pmid:9950368", "pmid:9887331", "pmid:9858828", "pmid:9668171", "pmid:9537423", "pmid:9402536", "pmid:9401353", "pmid:9371827", "pmid:9294109", "pmid:9241283", "pmid:9241282", "pmid:9207101", "pmid:8948631", "pmid:8923304", "pmid:8673131", "pmid:8659513", "pmid:8784809", "pmid:8595416", "pmid:7626046", "pmid:7590731", "pmid:7726160", "pmid:7896884", "pmid:8288237"]
+ "references": ["genereviews:NBK1165", "pmid:38454488", "pmid:36169768", "pmid:42182465", "pmid:39932794", "pmid:40259070", "pmid:41929128", "pmid:32851192", "pmid:39710066", "pmid:35741732", "pmid:39679849", "pmid:29100084", "pmid:31159885", "pmid:35483324", "pmid:1310900", "mondo:0008056", "pmid:29361396", "pmid:8810716", "pmid:27695335", "pmid:29871899", "pmid:37209486"],
+ "additional_literature": ["pmid:42273033", "pmid:42261605", "pmid:42196324", "pmid:42133999", "pmid:41974889", "pmid:41951733", "pmid:41946260", "pmid:41855125", "pmid:41848171", "pmid:41766784", "pmid:41762523", "pmid:41722569", "pmid:41710065", "pmid:41707138", "pmid:41672630", "pmid:41610137", "pmid:41533635", "pmid:41379996", "pmid:41260620", "pmid:41250834", "pmid:41226829", "pmid:41212113", "pmid:41161721", "pmid:41074692", "pmid:40903903", "pmid:40896579", "pmid:40879030", "pmid:40712995", "pmid:40606545", "pmid:40599975", "pmid:40417743", "pmid:40296143", "pmid:40113266", "pmid:40092662", "pmid:40004498", "pmid:39492694", "pmid:39433769", "pmid:39415708", "pmid:39391712", "pmid:39383229", "pmid:39278936", "pmid:39267217", "pmid:39273681", "pmid:39232665", "pmid:39180495", "pmid:39126705", "pmid:38709060", "pmid:38704930", "pmid:38490135", "pmid:38314057", "pmid:37829280", "pmid:37744174", "pmid:37645891", "pmid:37638448", "pmid:37521782", "pmid:37397246", "pmid:37373276", "pmid:37352653", "pmid:37200862", "pmid:37146135", "pmid:37143315", "pmid:36892629", "pmid:36778282", "pmid:36701310", "pmid:36627397", "pmid:36352383", "pmid:36230978", "pmid:36222125", "pmid:36099027", "pmid:36084803", "pmid:36011377", "pmid:35770133", "pmid:35767654", "pmid:35567413", "pmid:35328504", "pmid:35243403", "pmid:35182509", "pmid:34976437", "pmid:34915310", "pmid:34513303", "pmid:34472530", "pmid:34432028", "pmid:34386887", "pmid:34372915", "pmid:34371182", "pmid:34262431", "pmid:34114350", "pmid:34025359", "pmid:33682722", "pmid:33624941", "pmid:33575482", "pmid:33526774", "pmid:33497365", "pmid:33363709", "pmid:33362853", "pmid:33235377", "pmid:32929188", "pmid:32823742", "pmid:32717741", "pmid:32656337", "pmid:32607474", "pmid:32350131", "pmid:32203199", "pmid:32109384", "pmid:32063450", "pmid:31996899", "pmid:31873063", "pmid:31759551", "pmid:31649961", "pmid:31624084", "pmid:31570586", "pmid:31395669", "pmid:31334355", "pmid:31316546", "pmid:31253581", "pmid:31227653", "pmid:31220271", "pmid:31164682", "pmid:31027145", "pmid:30891637", "pmid:30700578", "pmid:30615214", "pmid:30546383", "pmid:30425655", "pmid:30304901", "pmid:30216892", "pmid:30140252", "pmid:29967337", "pmid:29947794", "pmid:29592894", "pmid:29551391", "pmid:29381654", "pmid:29334465", "pmid:29274549", "pmid:29246312", "pmid:29114849", "pmid:28942489", "pmid:28886202", "pmid:28810563", "pmid:28782311", "pmid:28623239", "pmid:28435090", "pmid:28363916", "pmid:28211918", "pmid:28129118", "pmid:28102759", "pmid:27854230", "pmid:27727437", "pmid:27358583", "pmid:27245480", "pmid:27222292", "pmid:26708183", "pmid:26640575", "pmid:26586700", "pmid:26498872", "pmid:26190529", "pmid:25958258", "pmid:25712547", "pmid:25655594", "pmid:25606394", "pmid:25307018", "pmid:25303993", "pmid:25168381", "pmid:24824895", "pmid:24795756", "pmid:24781112", "pmid:24715907", "pmid:24705798", "pmid:24455202", "pmid:24269018", "pmid:24196578", "pmid:24092878", "pmid:23811192", "pmid:23570879", "pmid:23308382", "pmid:26317000", "pmid:23263591", "pmid:23209425", "pmid:23183533", "pmid:23161457", "pmid:23159592", "pmid:23139243", "pmid:22643181", "pmid:22595968", "pmid:22459146", "pmid:22427994", "pmid:22078098", "pmid:22062891", "pmid:21971425", "pmid:21949239", "pmid:21511730", "pmid:21303839", "pmid:21245981", "pmid:21204798", "pmid:21103235", "pmid:20801043", "pmid:20635151", "pmid:20603324", "pmid:20346670", "pmid:20228473", "pmid:20179953", "pmid:20171614", "pmid:20074967", "pmid:19946639", "pmid:19715468", "pmid:19632331", "pmid:19516957", "pmid:19470458", "pmid:18798829", "pmid:18729234", "pmid:18611984", "pmid:18563724", "pmid:18561181", "pmid:18559347", "pmid:18299519", "pmid:18228241", "pmid:18213375", "pmid:17987120", "pmid:17950578", "pmid:17877752", "pmid:17728322", "pmid:17487865", "pmid:17158949", "pmid:17150182", "pmid:17145685", "pmid:17114933", "pmid:16978612", "pmid:16927100", "pmid:16716318", "pmid:16624843", "pmid:16401743", "pmid:16376058", "pmid:16193250", "pmid:16027111", "pmid:15972723", "pmid:15961406", "pmid:15750273", "pmid:15684391", "pmid:15576360", "pmid:15489504", "pmid:15462191", "pmid:15459182", "pmid:15336691", "pmid:15215218", "pmid:15114529", "pmid:15019706", "pmid:14734627", "pmid:14597103", "pmid:12970845", "pmid:12630069", "pmid:12614928", "pmid:12427866", "pmid:11978764", "pmid:11809728", "pmid:11793472", "pmid:11726559", "pmid:11686919", "pmid:11592825", "pmid:11590133", "pmid:11555624", "pmid:11526199", "pmid:11260612", "pmid:11124939", "pmid:11013451", "pmid:11001736", "pmid:10970838", "pmid:10958655", "pmid:10951446", "pmid:10909850", "pmid:10802668", "pmid:10802667", "pmid:10767343", "pmid:10699184", "pmid:10668800", "pmid:10480373", "pmid:10454725", "pmid:10435210", "pmid:10332037", "pmid:10332033", "pmid:9950368", "pmid:9887331", "pmid:9858828", "pmid:9668171", "pmid:9537423", "pmid:9402536", "pmid:9401353", "pmid:9371827", "pmid:9294109", "pmid:9241283", "pmid:9241282", "pmid:9207101", "pmid:8948631", "pmid:8923304", "pmid:8673131", "pmid:8659513", "pmid:8784809", "pmid:8595416", "pmid:7626046", "pmid:7590731", "pmid:7726160", "pmid:7896884", "pmid:8288237"]
},
{
"id": "RCPS_EIF4A3",
@@ -2004,8 +2004,8 @@
"webstr_hg19": [],
"locus_tags": ["maternal_expansion", "length_affects_onset", "length_affects_penetrance", "motif_affects_penetrance", "length_affects_phenotype"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:40379261", "pmid:38937606", "pmid:39604554", "pmid:41327893", "pmid:41277530", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:36493768", "pmid:39349043", "pmid:42044943", "doi:10.1212/NXG.0000000000200253"],
- "additional_literature": ["pmid:42055934", "pmid:42044943", "pmid:41698164", "pmid:41504274", "pmid:41118032", "pmid:41065930", "pmid:41055766", "pmid:40974444", "pmid:40906330", "pmid:40898875", "pmid:40894141", "pmid:40879304", "pmid:40835733", "pmid:40679574", "pmid:40637932", "pmid:40623333", "pmid:40579842", "pmid:40556471", "pmid:40488180", "pmid:40273470", "pmid:40239008", "pmid:40191983", "pmid:40141365", "pmid:40024931", "pmid:40017559", "pmid:39996128", "pmid:39821862", "pmid:39801711", "pmid:39723156", "pmid:39666057", "pmid:39666053", "pmid:39574782", "pmid:39571249", "pmid:39392764", "pmid:39378335", "pmid:39152783", "pmid:39006414", "pmid:38976084", "pmid:38949032", "pmid:38866925", "pmid:38816190", "pmid:38513302", "pmid:38487929", "pmid:38472396", "pmid:38405699", "pmid:38381176", "pmid:38221848", "pmid:38170134", "pmid:38150853", "pmid:38058854", "pmid:37916889", "pmid:37646005", "pmid:37578187", "pmid:37577458", "pmid:37322040", "pmid:37165652", "pmid:32717741", "pmid:30017992", "pmid:28444220", "pmid:26677414", "pmid:26149656", "pmid:15470364", "pmid:15148151"]
+ "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:40379261", "pmid:38937606", "pmid:39604554", "pmid:41327893", "pmid:41277530", "pmid:42204984", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:42096001", "pmid:42090775", "pmid:36493768", "pmid:39349043", "pmid:42044943", "pmid:39996128"],
+ "additional_literature": ["pmid:42371259", "pmid:42178418", "pmid:42168446", "pmid:42055934", "pmid:41698164", "pmid:41504274", "pmid:41118032", "pmid:41065930", "pmid:41055766", "pmid:40974444", "pmid:40906330", "pmid:40898875", "pmid:40894141", "pmid:40879304", "pmid:40835733", "pmid:40679574", "pmid:40637932", "pmid:40623333", "pmid:40579842", "pmid:40556471", "pmid:40488180", "pmid:40273470", "pmid:40239008", "pmid:40191983", "pmid:40141365", "pmid:40024931", "pmid:40017559", "pmid:39821862", "pmid:39801711", "pmid:39723156", "pmid:39666057", "pmid:39666053", "pmid:39574782", "pmid:39571249", "pmid:39392764", "pmid:39378335", "pmid:39152783", "pmid:39006414", "pmid:38976084", "pmid:38949032", "pmid:38866925", "pmid:38816190", "pmid:38513302", "pmid:38487929", "pmid:38472396", "pmid:38405699", "pmid:38381176", "pmid:38221848", "pmid:38170134", "pmid:38150853", "pmid:38058854", "pmid:37916889", "pmid:37646005", "pmid:37578187", "pmid:37577458", "pmid:37322040", "pmid:37165652", "pmid:32717741", "pmid:30017992", "pmid:28444220", "pmid:26677414", "pmid:26149656", "pmid:15470364", "pmid:15148151"]
},
{
"id": "FXS_FMR1",
@@ -2072,7 +2072,7 @@
"locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability"],
"disease_tags": ["phenotypic_spectrum", "ataxia"],
"references": ["genereviews:NBK1384", "url:https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents", "pmid:17427188", "isbn:978-3-031-66932-3", "pmid:16205714", "pmid:36169768", "pmid:41507195", "pmid:32463542", "pmid:29868108", "pmid:41555826", "pmid:7987398", "pmid:42001465", "pmid:24700618", "pmid:29100084", "pmid:39320553", "pmid:1605194", "pmid:1710175", "mondo:0010383", "mondo:0010706", "mondo:0010382"],
- "additional_literature": ["pmid:42041789", "pmid:42001465", "pmid:41952192", "pmid:41929501", "pmid:41917775", "pmid:41806827", "pmid:41792844", "pmid:41777701", "pmid:41762523", "pmid:41717020", "pmid:41672630", "pmid:41648852", "pmid:41557506", "pmid:41523206", "pmid:41514368", "pmid:41409170", "pmid:41386846", "pmid:41385812", "pmid:41372183", "pmid:41351347", "pmid:41278766", "pmid:41256123", "pmid:41167304", "pmid:41145158", "pmid:41120736", "pmid:41098569", "pmid:41074692", "pmid:41028987", "pmid:41015363", "pmid:40980401", "pmid:40940631", "pmid:40877251", "pmid:40869951", "pmid:40879637", "pmid:40778130", "pmid:40653294", "pmid:40600017", "pmid:40534679", "pmid:40488180", "pmid:40480633", "pmid:40459253", "pmid:40455869", "pmid:40418066", "pmid:40417743", "pmid:40296143", "pmid:40287634", "pmid:40244008", "pmid:40243429", "pmid:40243408", "pmid:40220918", "pmid:40166285", "pmid:40149430", "pmid:40141467", "pmid:40141297", "pmid:39945490", "pmid:39934227", "pmid:39839505", "pmid:39684429", "pmid:39654947", "pmid:39588919", "pmid:39574643", "pmid:39553953", "pmid:39492694", "pmid:39482338", "pmid:39488698", "pmid:39095619", "pmid:38997701", "pmid:38961870", "pmid:38946987", "pmid:38865241", "pmid:38772058", "pmid:38714961", "pmid:38522837", "pmid:38412259", "pmid:38307002", "pmid:38164622", "pmid:38162443", "pmid:38134876", "pmid:37970883", "pmid:37936174", "pmid:37906407", "pmid:37776526", "pmid:37745859", "pmid:37628570", "pmid:37583466", "pmid:37551886", "pmid:37551173", "pmid:37508562", "pmid:37364131", "pmid:37352983", "pmid:37347418", "pmid:37333274", "pmid:37209683", "pmid:37200782", "pmid:37146135", "pmid:37120588", "pmid:36882476", "pmid:36816716", "pmid:36250920", "pmid:36227727", "pmid:36012355", "pmid:35977823", "pmid:35948990", "pmid:35904811", "pmid:35729184", "pmid:35701103", "pmid:35681093", "pmid:35609145", "pmid:35182509", "pmid:35152460", "pmid:35129870", "pmid:35101584", "pmid:35072235", "pmid:35038595", "pmid:35026985", "pmid:34938155", "pmid:34926684", "pmid:34924936", "pmid:34880790", "pmid:34845661", "pmid:34828275", "pmid:34738199", "pmid:34690787", "pmid:34679478", "pmid:34646309", "pmid:34641814", "pmid:34641644", "pmid:34542254", "pmid:34456771", "pmid:34421690", "pmid:34372915", "pmid:34358321", "pmid:34321326", "pmid:34296199", "pmid:34276797", "pmid:34193467", "pmid:34153466", "pmid:34117786", "pmid:34111553", "pmid:34077515", "pmid:34054431", "pmid:34046842", "pmid:33998336", "pmid:33856019", "pmid:33854084", "pmid:33772546", "pmid:33709078", "pmid:33692361", "pmid:33642901", "pmid:33627639", "pmid:33585555", "pmid:33523882", "pmid:33497798", "pmid:33381520", "pmid:33374331", "pmid:33296661", "pmid:33195422", "pmid:33181255", "pmid:33151065", "pmid:33039683", "pmid:33008014", "pmid:33007370", "pmid:32787884", "pmid:32716213", "pmid:32695777", "pmid:32688058", "pmid:32589669", "pmid:32478017", "pmid:32446918", "pmid:32281281", "pmid:32258228", "pmid:32089525", "pmid:32066985", "pmid:32048109", "pmid:32012997", "pmid:31991700", "pmid:31989181", "pmid:31891607", "pmid:31887710", "pmid:31880363", "pmid:31866572", "pmid:31804632", "pmid:31733943", "pmid:31671347", "pmid:31665086", "pmid:31632248", "pmid:31586346", "pmid:31566610", "pmid:31512951", "pmid:31481131", "pmid:31468394", "pmid:31347257", "pmid:31336350", "pmid:31332380", "pmid:31299981", "pmid:31294106", "pmid:31264835", "pmid:31159589", "pmid:31096929", "pmid:31026518", "pmid:30984240", "pmid:30900173", "pmid:30847793", "pmid:30840878", "pmid:30832215", "pmid:30808398", "pmid:30665341", "pmid:30619448", "pmid:30606610", "pmid:30576349", "pmid:30567555", "pmid:30566867", "pmid:30538724", "pmid:30509972", "pmid:30396881", "pmid:30396281", "pmid:30312299", "pmid:30311737", "pmid:30211570", "pmid:30197656", "pmid:30173918", "pmid:30160796", "pmid:30158855", "pmid:30147707", "pmid:30030199", "pmid:29990673", "pmid:29981579", "pmid:29971092", "pmid:29880767", "pmid:29844802", "pmid:29766042", "pmid:29760651", "pmid:29379561", "pmid:29375310", "pmid:29316893", "pmid:29275276", "pmid:29267266", "pmid:29209628", "pmid:29188551", "pmid:28967713", "pmid:28895261", "pmid:28829283", "pmid:28815939", "pmid:28812997", "pmid:28697590", "pmid:28504725", "pmid:28454580", "pmid:28391068", "pmid:28369393", "pmid:28278294", "pmid:28233916", "pmid:28193118", "pmid:28173181", "pmid:28103472", "pmid:28065649", "pmid:28005950", "pmid:27883256", "pmid:27862088", "pmid:27841182", "pmid:27841172", "pmid:27840045", "pmid:27822316", "pmid:27816231", "pmid:27784894", "pmid:27646161", "pmid:27768763", "pmid:27761921", "pmid:27667322", "pmid:27616423", "pmid:27713816", "pmid:27708271", "pmid:27696642", "pmid:27696273", "pmid:27695335", "pmid:27540028", "pmid:27427765", "pmid:27375073", "pmid:27372099", "pmid:27355815", "pmid:27355445", "pmid:27335370", "pmid:27315125", "pmid:27294193", "pmid:27066582", "pmid:27042357", "pmid:27041225", "pmid:27001315", "pmid:26940792", "pmid:26825750", "pmid:26743003", "pmid:26716517", "pmid:26694146", "pmid:26554012", "pmid:26537920", "pmid:26463479", "pmid:26440889", "pmid:26420841", "pmid:26345686", "pmid:26322075", "pmid:26298472", "pmid:26194536", "pmid:26099177", "pmid:26029703", "pmid:25954027", "pmid:25953684", "pmid:25886163", "pmid:25875842", "pmid:25788698", "pmid:25776194", "pmid:25763861", "pmid:25726753", "pmid:25693964", "pmid:25689687", "pmid:25606365", "pmid:25436181", "pmid:25399540", "pmid:25366135", "pmid:25346430", "pmid:25290064", "pmid:25278957", "pmid:25250047", "pmid:25179629", "pmid:25171808", "pmid:25170346", "pmid:25147555", "pmid:25110527", "pmid:25093044", "pmid:25085749", "pmid:25013385", "pmid:24998620", "pmid:24963073", "pmid:24958193", "pmid:24938362", "pmid:24920338", "pmid:24912415", "pmid:24875778", "pmid:24858908", "pmid:24821701", "pmid:24816393", "pmid:24814676", "pmid:24787137", "pmid:24763282", "pmid:24743386", "pmid:24718368", "pmid:24715853", "pmid:24657592", "pmid:24654675", "pmid:24630283", "pmid:24591415", "pmid:24578575", "pmid:24463622", "pmid:24455203", "pmid:24448548", "pmid:24428240", "pmid:24424424", "pmid:24401315", "pmid:24352881", "pmid:24289922", "pmid:24261641", "pmid:24249225", "pmid:24177047", "pmid:24130133", "pmid:23949867", "pmid:23896050", "pmid:23792063", "pmid:23753897", "pmid:23731704", "pmid:23719910", "pmid:23683082", "pmid:23602499", "pmid:23574351", "pmid:23553633", "pmid:23497562", "pmid:23478018", "pmid:23464607", "pmid:23440729", "pmid:23250915", "pmid:23198693", "pmid:23148490", "pmid:23146966", "pmid:23015788", "pmid:22924671", "pmid:22918986", "pmid:22887750", "pmid:22796595", "pmid:22707411", "pmid:22612820", "pmid:22619118", "pmid:22581803", "pmid:22507827", "pmid:22498846", "pmid:22489017", "pmid:22466801", "pmid:22427040", "pmid:22393900", "pmid:22387066", "pmid:22311273", "pmid:22251309", "pmid:22241100", "pmid:22224633", "pmid:22223546", "pmid:22211843", "pmid:22177572", "pmid:22161987", "pmid:22149120", "pmid:22022567", "pmid:22004265", "pmid:21944929", "pmid:21808616", "pmid:21807882", "pmid:21775729", "pmid:21767618", "pmid:21720528", "pmid:21671049", "pmid:21646280", "pmid:21636656", "pmid:21617890", "pmid:21596781", "pmid:21572337", "pmid:21567456", "pmid:21499798", "pmid:21476992", "pmid:21445959", "pmid:21430544", "pmid:21389081", "pmid:21329465", "pmid:21270637", "pmid:21267007", "pmid:21254876", "pmid:21170301", "pmid:21051337", "pmid:20938029", "pmid:20935171", "pmid:20858229", "pmid:20801083", "pmid:20799337", "pmid:20736975", "pmid:20702130", "pmid:20616364", "pmid:20431035", "pmid:20425835", "pmid:20410144", "pmid:20364100", "pmid:20221430", "pmid:20213777", "pmid:20168238", "pmid:20118148", "pmid:20051238", "pmid:20011099", "pmid:20001115", "pmid:19927162", "pmid:19846466", "pmid:19804849", "pmid:19796183", "pmid:19778484", "pmid:19760650", "pmid:19710035", "pmid:19684044", "pmid:19562332", "pmid:19525339", "pmid:19514725", "pmid:19460939", "pmid:19460937", "pmid:19440516", "pmid:19404994", "pmid:19204162", "pmid:19097038", "pmid:19045956", "pmid:19026394", "pmid:19014369", "pmid:18565783", "pmid:18563710", "pmid:18553360", "pmid:18535897", "pmid:18472227", "pmid:18428348", "pmid:18413472", "pmid:18403614", "pmid:18384775", "pmid:18373410", "pmid:18357616", "pmid:18310361", "pmid:18281036", "pmid:18165971", "pmid:18165276", "pmid:18160412", "pmid:18057320", "pmid:17724287", "pmid:17698009", "pmid:17674408", "pmid:17635840", "pmid:17591512", "pmid:17516099", "pmid:17442505", "pmid:17322660", "pmid:17295053", "pmid:17279084", "pmid:17266074", "pmid:17152065", "pmid:17150213", "pmid:17089161", "pmid:17044853", "pmid:16780889", "pmid:16761284", "pmid:16361284", "pmid:16337617", "pmid:16258159", "pmid:16164596", "pmid:16047092", "pmid:15971024", "pmid:15947063", "pmid:15876460", "pmid:15811008", "pmid:15741991", "pmid:15659577", "pmid:15649335", "pmid:15629215", "pmid:15483045", "pmid:15377638", "pmid:15302914", "pmid:15068386", "pmid:14755444", "pmid:14735162", "pmid:14722156", "pmid:14560307", "pmid:14519687", "pmid:14517952", "pmid:12948442", "pmid:12905066", "pmid:12853612", "pmid:12681986", "pmid:12659659", "pmid:12634803", "pmid:12515381", "pmid:12379314", "pmid:12232854", "pmid:12160728", "pmid:12111644", "pmid:11992571", "pmid:11886710", "pmid:11807410", "pmid:11551101", "pmid:11499669", "pmid:11487573", "pmid:11410685", "pmid:11256870", "pmid:11229516", "pmid:11142761", "pmid:11142752", "pmid:11119302", "pmid:11097353", "pmid:11073538", "pmid:11070156", "pmid:11005143", "pmid:10995510", "pmid:10987654", "pmid:10941804", "pmid:10915764", "pmid:10870330", "pmid:10855793", "pmid:10780779", "pmid:10773084", "pmid:10710419", "pmid:10674158", "pmid:10631132", "pmid:10587583", "pmid:10567518", "pmid:10545610", "pmid:10521303", "pmid:10462618", "pmid:10447261", "pmid:10445321", "pmid:10424820", "pmid:10409756", "pmid:10369109", "pmid:10331601", "pmid:10331600", "pmid:10204857", "pmid:9916838", "pmid:9856500", "pmid:9811938", "pmid:9806479", "pmid:9792200", "pmid:9761677", "pmid:9738717", "pmid:9653650", "pmid:9624140", "pmid:9630071", "pmid:9604772", "pmid:9603608", "pmid:9529778", "pmid:9485421", "pmid:9514250", "pmid:9507388", "pmid:9415473", "pmid:9437788", "pmid:9399905", "pmid:9358013", "pmid:9341861", "pmid:9382110", "pmid:9299309", "pmid:9279752", "pmid:9254854", "pmid:9207038", "pmid:9201980", "pmid:9195158", "pmid:9640603", "pmid:9131013", "pmid:8798682", "pmid:8808600", "pmid:8792815", "pmid:8792813", "pmid:8844091", "pmid:8844089", "pmid:8844077", "pmid:8844068", "pmid:8844065", "pmid:8844064", "pmid:8755928", "pmid:8698331", "pmid:8826482", "pmid:8826479", "pmid:8725793", "pmid:8636996", "pmid:8673086", "pmid:8664297", "pmid:8644711", "pmid:8626781", "pmid:8872026", "pmid:8800930", "pmid:8519769", "pmid:8634688", "pmid:7499428", "pmid:8589687", "pmid:7581460", "pmid:8593539", "pmid:8579216", "pmid:8559749", "pmid:7541938", "pmid:7761473", "pmid:7758107", "pmid:7732383", "pmid:7783163", "pmid:8750357", "pmid:7825564", "pmid:7717734", "pmid:7881407", "pmid:7864047", "pmid:7927336", "pmid:7849707", "pmid:8023854", "pmid:8197163", "pmid:8162055", "pmid:8275089", "pmid:8244331", "pmid:8237919", "pmid:7902319", "pmid:7692601", "pmid:8242066", "pmid:8334699", "pmid:1642231", "pmid:1605199"]
+ "additional_literature": ["pmid:42353815", "pmid:42330760", "pmid:42325958", "pmid:42301916", "pmid:42293335", "pmid:42041789", "pmid:41952192", "pmid:41929501", "pmid:41917775", "pmid:41806827", "pmid:41792844", "pmid:41777701", "pmid:41762523", "pmid:41717020", "pmid:41672630", "pmid:41648852", "pmid:41557506", "pmid:41523206", "pmid:41514368", "pmid:41409170", "pmid:41386846", "pmid:41385812", "pmid:41372183", "pmid:41351347", "pmid:41278766", "pmid:41256123", "pmid:41167304", "pmid:41145158", "pmid:41120736", "pmid:41098569", "pmid:41074692", "pmid:41028987", "pmid:41015363", "pmid:40980401", "pmid:40940631", "pmid:40877251", "pmid:40869951", "pmid:40879637", "pmid:40778130", "pmid:40653294", "pmid:40600017", "pmid:40534679", "pmid:40488180", "pmid:40480633", "pmid:40459253", "pmid:40455869", "pmid:40418066", "pmid:40417743", "pmid:40296143", "pmid:40287634", "pmid:40244008", "pmid:40243429", "pmid:40243408", "pmid:40220918", "pmid:40166285", "pmid:40149430", "pmid:40141467", "pmid:40141297", "pmid:39945490", "pmid:39934227", "pmid:39839505", "pmid:39684429", "pmid:39654947", "pmid:39588919", "pmid:39574643", "pmid:39553953", "pmid:39492694", "pmid:39482338", "pmid:39488698", "pmid:39095619", "pmid:38997701", "pmid:38961870", "pmid:38946987", "pmid:38865241", "pmid:38772058", "pmid:38714961", "pmid:38522837", "pmid:38412259", "pmid:38307002", "pmid:38164622", "pmid:38162443", "pmid:38134876", "pmid:37970883", "pmid:37936174", "pmid:37906407", "pmid:37776526", "pmid:37745859", "pmid:37628570", "pmid:37583466", "pmid:37551886", "pmid:37551173", "pmid:37508562", "pmid:37364131", "pmid:37352983", "pmid:37347418", "pmid:37333274", "pmid:37209683", "pmid:37200782", "pmid:37146135", "pmid:37120588", "pmid:36882476", "pmid:36816716", "pmid:36250920", "pmid:36227727", "pmid:36012355", "pmid:35977823", "pmid:35948990", "pmid:35904811", "pmid:35729184", "pmid:35701103", "pmid:35681093", "pmid:35609145", "pmid:35182509", "pmid:35152460", "pmid:35129870", "pmid:35101584", "pmid:35072235", "pmid:35038595", "pmid:35026985", "pmid:34938155", "pmid:34926684", "pmid:34924936", "pmid:34880790", "pmid:34845661", "pmid:34828275", "pmid:34738199", "pmid:34690787", "pmid:34679478", "pmid:34646309", "pmid:34641814", "pmid:34641644", "pmid:34542254", "pmid:34456771", "pmid:34421690", "pmid:34372915", "pmid:34358321", "pmid:34321326", "pmid:34296199", "pmid:34276797", "pmid:34193467", "pmid:34153466", "pmid:34117786", "pmid:34111553", "pmid:34077515", "pmid:34054431", "pmid:34046842", "pmid:33998336", "pmid:33856019", "pmid:33854084", "pmid:33772546", "pmid:33709078", "pmid:33692361", "pmid:33642901", "pmid:33627639", "pmid:33585555", "pmid:33523882", "pmid:33497798", "pmid:33381520", "pmid:33374331", "pmid:33296661", "pmid:33195422", "pmid:33181255", "pmid:33151065", "pmid:33039683", "pmid:33008014", "pmid:33007370", "pmid:32787884", "pmid:32716213", "pmid:32695777", "pmid:32688058", "pmid:32589669", "pmid:32478017", "pmid:32446918", "pmid:32281281", "pmid:32258228", "pmid:32089525", "pmid:32066985", "pmid:32048109", "pmid:32012997", "pmid:31991700", "pmid:31989181", "pmid:31891607", "pmid:31887710", "pmid:31880363", "pmid:31866572", "pmid:31804632", "pmid:31733943", "pmid:31671347", "pmid:31665086", "pmid:31632248", "pmid:31586346", "pmid:31566610", "pmid:31512951", "pmid:31481131", "pmid:31468394", "pmid:31347257", "pmid:31336350", "pmid:31332380", "pmid:31299981", "pmid:31294106", "pmid:31264835", "pmid:31159589", "pmid:31096929", "pmid:31026518", "pmid:30984240", "pmid:30900173", "pmid:30847793", "pmid:30840878", "pmid:30832215", "pmid:30808398", "pmid:30665341", "pmid:30619448", "pmid:30606610", "pmid:30576349", "pmid:30567555", "pmid:30566867", "pmid:30538724", "pmid:30509972", "pmid:30396881", "pmid:30396281", "pmid:30312299", "pmid:30311737", "pmid:30211570", "pmid:30197656", "pmid:30173918", "pmid:30160796", "pmid:30158855", "pmid:30147707", "pmid:30030199", "pmid:29990673", "pmid:29981579", "pmid:29971092", "pmid:29880767", "pmid:29844802", "pmid:29766042", "pmid:29760651", "pmid:29379561", "pmid:29375310", "pmid:29316893", "pmid:29275276", "pmid:29267266", "pmid:29209628", "pmid:29188551", "pmid:28967713", "pmid:28895261", "pmid:28829283", "pmid:28815939", "pmid:28812997", "pmid:28697590", "pmid:28504725", "pmid:28454580", "pmid:28391068", "pmid:28369393", "pmid:28278294", "pmid:28233916", "pmid:28193118", "pmid:28173181", "pmid:28103472", "pmid:28065649", "pmid:28005950", "pmid:27883256", "pmid:27862088", "pmid:27841182", "pmid:27841172", "pmid:27840045", "pmid:27822316", "pmid:27816231", "pmid:27784894", "pmid:27646161", "pmid:27768763", "pmid:27761921", "pmid:27667322", "pmid:27616423", "pmid:27713816", "pmid:27708271", "pmid:27696642", "pmid:27696273", "pmid:27695335", "pmid:27540028", "pmid:27427765", "pmid:27375073", "pmid:27372099", "pmid:27355815", "pmid:27355445", "pmid:27335370", "pmid:27315125", "pmid:27294193", "pmid:27066582", "pmid:27042357", "pmid:27041225", "pmid:27001315", "pmid:26940792", "pmid:26825750", "pmid:26743003", "pmid:26716517", "pmid:26694146", "pmid:26554012", "pmid:26537920", "pmid:26463479", "pmid:26440889", "pmid:26420841", "pmid:26345686", "pmid:26322075", "pmid:26298472", "pmid:26194536", "pmid:26099177", "pmid:26029703", "pmid:25954027", "pmid:25953684", "pmid:25886163", "pmid:25875842", "pmid:25788698", "pmid:25776194", "pmid:25763861", "pmid:25726753", "pmid:25693964", "pmid:25689687", "pmid:25606365", "pmid:25436181", "pmid:25399540", "pmid:25366135", "pmid:25346430", "pmid:25290064", "pmid:25278957", "pmid:25250047", "pmid:25179629", "pmid:25171808", "pmid:25170346", "pmid:25147555", "pmid:25110527", "pmid:25093044", "pmid:25085749", "pmid:25013385", "pmid:24998620", "pmid:24963073", "pmid:24958193", "pmid:24938362", "pmid:24920338", "pmid:24912415", "pmid:24875778", "pmid:24858908", "pmid:24821701", "pmid:24816393", "pmid:24814676", "pmid:24787137", "pmid:24763282", "pmid:24743386", "pmid:24718368", "pmid:24715853", "pmid:24657592", "pmid:24654675", "pmid:24630283", "pmid:24591415", "pmid:24578575", "pmid:24463622", "pmid:24455203", "pmid:24448548", "pmid:24428240", "pmid:24424424", "pmid:24401315", "pmid:24352881", "pmid:24289922", "pmid:24261641", "pmid:24249225", "pmid:24177047", "pmid:24130133", "pmid:23949867", "pmid:23896050", "pmid:23792063", "pmid:23753897", "pmid:23731704", "pmid:23719910", "pmid:23683082", "pmid:23602499", "pmid:23574351", "pmid:23553633", "pmid:23497562", "pmid:23478018", "pmid:23464607", "pmid:23440729", "pmid:23250915", "pmid:23198693", "pmid:23148490", "pmid:23146966", "pmid:23015788", "pmid:22924671", "pmid:22918986", "pmid:22887750", "pmid:22796595", "pmid:22707411", "pmid:22612820", "pmid:22619118", "pmid:22581803", "pmid:22507827", "pmid:22498846", "pmid:22489017", "pmid:22466801", "pmid:22427040", "pmid:22393900", "pmid:22387066", "pmid:22311273", "pmid:22251309", "pmid:22241100", "pmid:22224633", "pmid:22223546", "pmid:22211843", "pmid:22177572", "pmid:22161987", "pmid:22149120", "pmid:22022567", "pmid:22004265", "pmid:21944929", "pmid:21808616", "pmid:21807882", "pmid:21775729", "pmid:21767618", "pmid:21720528", "pmid:21671049", "pmid:21646280", "pmid:21636656", "pmid:21617890", "pmid:21596781", "pmid:21572337", "pmid:21567456", "pmid:21499798", "pmid:21476992", "pmid:21445959", "pmid:21430544", "pmid:21389081", "pmid:21329465", "pmid:21270637", "pmid:21267007", "pmid:21254876", "pmid:21170301", "pmid:21051337", "pmid:20938029", "pmid:20935171", "pmid:20858229", "pmid:20801083", "pmid:20799337", "pmid:20736975", "pmid:20702130", "pmid:20616364", "pmid:20431035", "pmid:20425835", "pmid:20410144", "pmid:20364100", "pmid:20221430", "pmid:20213777", "pmid:20168238", "pmid:20118148", "pmid:20051238", "pmid:20011099", "pmid:20001115", "pmid:19927162", "pmid:19846466", "pmid:19804849", "pmid:19796183", "pmid:19778484", "pmid:19760650", "pmid:19710035", "pmid:19684044", "pmid:19562332", "pmid:19525339", "pmid:19514725", "pmid:19460939", "pmid:19460937", "pmid:19440516", "pmid:19404994", "pmid:19204162", "pmid:19097038", "pmid:19045956", "pmid:19026394", "pmid:19014369", "pmid:18565783", "pmid:18563710", "pmid:18553360", "pmid:18535897", "pmid:18472227", "pmid:18428348", "pmid:18413472", "pmid:18403614", "pmid:18384775", "pmid:18373410", "pmid:18357616", "pmid:18310361", "pmid:18281036", "pmid:18165971", "pmid:18165276", "pmid:18160412", "pmid:18057320", "pmid:17724287", "pmid:17698009", "pmid:17674408", "pmid:17635840", "pmid:17591512", "pmid:17516099", "pmid:17442505", "pmid:17322660", "pmid:17295053", "pmid:17279084", "pmid:17266074", "pmid:17152065", "pmid:17150213", "pmid:17089161", "pmid:17044853", "pmid:16780889", "pmid:16761284", "pmid:16361284", "pmid:16337617", "pmid:16258159", "pmid:16164596", "pmid:16047092", "pmid:15971024", "pmid:15947063", "pmid:15876460", "pmid:15811008", "pmid:15741991", "pmid:15659577", "pmid:15649335", "pmid:15629215", "pmid:15483045", "pmid:15377638", "pmid:15302914", "pmid:15068386", "pmid:14755444", "pmid:14735162", "pmid:14722156", "pmid:14560307", "pmid:14519687", "pmid:14517952", "pmid:12948442", "pmid:12905066", "pmid:12853612", "pmid:12681986", "pmid:12659659", "pmid:12634803", "pmid:12515381", "pmid:12379314", "pmid:12232854", "pmid:12160728", "pmid:12111644", "pmid:11992571", "pmid:11886710", "pmid:11807410", "pmid:11551101", "pmid:11499669", "pmid:11487573", "pmid:11410685", "pmid:11256870", "pmid:11229516", "pmid:11142761", "pmid:11142752", "pmid:11119302", "pmid:11097353", "pmid:11073538", "pmid:11070156", "pmid:11005143", "pmid:10995510", "pmid:10987654", "pmid:10941804", "pmid:10915764", "pmid:10870330", "pmid:10855793", "pmid:10780779", "pmid:10773084", "pmid:10710419", "pmid:10674158", "pmid:10631132", "pmid:10587583", "pmid:10567518", "pmid:10545610", "pmid:10521303", "pmid:10462618", "pmid:10447261", "pmid:10445321", "pmid:10424820", "pmid:10409756", "pmid:10369109", "pmid:10331601", "pmid:10331600", "pmid:10204857", "pmid:9916838", "pmid:9856500", "pmid:9811938", "pmid:9806479", "pmid:9792200", "pmid:9761677", "pmid:9738717", "pmid:9653650", "pmid:9624140", "pmid:9630071", "pmid:9604772", "pmid:9603608", "pmid:9529778", "pmid:9485421", "pmid:9514250", "pmid:9507388", "pmid:9415473", "pmid:9437788", "pmid:9399905", "pmid:9358013", "pmid:9341861", "pmid:9382110", "pmid:9299309", "pmid:9279752", "pmid:9254854", "pmid:9207038", "pmid:9201980", "pmid:9195158", "pmid:9640603", "pmid:9131013", "pmid:8798682", "pmid:8808600", "pmid:8792815", "pmid:8792813", "pmid:8844091", "pmid:8844089", "pmid:8844077", "pmid:8844068", "pmid:8844065", "pmid:8844064", "pmid:8755928", "pmid:8698331", "pmid:8826482", "pmid:8826479", "pmid:8725793", "pmid:8636996", "pmid:8673086", "pmid:8664297", "pmid:8644711", "pmid:8626781", "pmid:8872026", "pmid:8800930", "pmid:8519769", "pmid:8634688", "pmid:7499428", "pmid:8589687", "pmid:7581460", "pmid:8593539", "pmid:8579216", "pmid:8559749", "pmid:7541938", "pmid:7761473", "pmid:7758107", "pmid:7732383", "pmid:7783163", "pmid:8750357", "pmid:7825564", "pmid:7717734", "pmid:7881407", "pmid:7864047", "pmid:7927336", "pmid:7849707", "pmid:8023854", "pmid:8197163", "pmid:8162055", "pmid:8275089", "pmid:8244331", "pmid:8237919", "pmid:7902319", "pmid:7692601", "pmid:8242066", "pmid:8334699", "pmid:1642231", "pmid:1605199"]
},
{
"id": "BPES_FOXL2",
@@ -2216,7 +2216,7 @@
"locus_tags": ["somatic_instability", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance"],
"disease_tags": ["ataxia"],
"references": ["genereviews:NBK1281", "pmid:16205714", "pmid:36169768", "pmid:11748752", "pmid:8815938", "omim:229300", "pmid:29100084", "pmid:8596916"],
- "additional_literature": ["pmid:42134333", "pmid:42094143", "pmid:42018061", "pmid:41954755", "pmid:41919005", "pmid:41890103", "pmid:41640354", "pmid:41432640", "pmid:41426430", "pmid:41318543", "pmid:41301739", "pmid:41278766", "pmid:41176519", "pmid:41137390", "pmid:41074692", "pmid:41014100", "pmid:40994821", "pmid:40970480", "pmid:40898875", "pmid:40880907", "pmid:40507780", "pmid:40488180", "pmid:40419681", "pmid:40404357", "pmid:40296143", "pmid:40141365", "pmid:39812846", "pmid:39810753", "pmid:39574782", "pmid:39571249", "pmid:39519164", "pmid:39496895", "pmid:39324476", "pmid:39235665", "pmid:39219417", "pmid:39062522", "pmid:38936158", "pmid:38495102", "pmid:38484450", "pmid:38396238", "pmid:38367363", "pmid:38352270", "pmid:38141359", "pmid:38063871", "pmid:38014032", "pmid:37891254", "pmid:37585105", "pmid:37006329", "pmid:36928898", "pmid:36800320", "pmid:36780807", "pmid:36777637", "pmid:36638893", "pmid:36635061", "pmid:36618024", "pmid:36511872", "pmid:36369844", "pmid:36133907", "pmid:36036008", "pmid:35850241", "pmid:35708503", "pmid:35595154", "pmid:35301072", "pmid:35182509", "pmid:34920960", "pmid:34849883", "pmid:34786480", "pmid:34747814", "pmid:34687355", "pmid:34643298", "pmid:34600502", "pmid:34408077", "pmid:34372915", "pmid:34299126", "pmid:34214898", "pmid:33820410", "pmid:33629768", "pmid:33624863", "pmid:33599954", "pmid:33592237", "pmid:33529321", "pmid:33354116", "pmid:33151022", "pmid:33028632", "pmid:32746884", "pmid:32744307", "pmid:32717741", "pmid:32608417", "pmid:32586831", "pmid:32582297", "pmid:32481586", "pmid:32385683", "pmid:32291635", "pmid:31911468", "pmid:31904895", "pmid:31877117", "pmid:31673878", "pmid:31650522", "pmid:31446150", "pmid:31279523", "pmid:30874991", "pmid:30828501", "pmid:30761510", "pmid:30635474", "pmid:30596685", "pmid:30590615", "pmid:30552117", "pmid:30519163", "pmid:30464193", "pmid:30425621", "pmid:30358880", "pmid:30237783", "pmid:30159187", "pmid:30097477", "pmid:30076049", "pmid:30065630", "pmid:29666341", "pmid:29529236", "pmid:29261783", "pmid:29125828", "pmid:29070698", "pmid:28904984", "pmid:28812047", "pmid:28716278", "pmid:28451558", "pmid:28282710", "pmid:28109580", "pmid:27518705", "pmid:27668106", "pmid:27648458", "pmid:27644330", "pmid:27522354", "pmid:27425605", "pmid:27386501", "pmid:27228352", "pmid:27206881", "pmid:27142428", "pmid:26906906", "pmid:26896803", "pmid:28392990", "pmid:26704351", "pmid:26414159", "pmid:26401053", "pmid:26393353", "pmid:26379101", "pmid:26339677", "pmid:26338206", "pmid:26301374", "pmid:26149656", "pmid:26099177", "pmid:25845763", "pmid:25831023", "pmid:25814655", "pmid:25758173", "pmid:25685137", "pmid:25681319", "pmid:25616511", "pmid:25207996", "pmid:25198290", "pmid:25112975", "pmid:25022367", "pmid:24971578", "pmid:24962209", "pmid:24858524", "pmid:24819921", "pmid:24816001", "pmid:24787137", "pmid:24714088", "pmid:24691413", "pmid:24667739", "pmid:24665325", "pmid:24613765", "pmid:24586819", "pmid:24455203", "pmid:24371004", "pmid:24327207", "pmid:24209901", "pmid:24023969", "pmid:23996585", "pmid:23943791", "pmid:23925595", "pmid:23922695", "pmid:23879205", "pmid:23838345", "pmid:23775342", "pmid:23691127", "pmid:23640016", "pmid:23625326", "pmid:23474817", "pmid:23418481", "pmid:23382970", "pmid:23280845", "pmid:25499576", "pmid:23269675", "pmid:23242090", "pmid:23071719", "pmid:22798143", "pmid:22787155", "pmid:22764244", "pmid:22752483", "pmid:22691228", "pmid:22447512", "pmid:22414340", "pmid:22409940", "pmid:22289650", "pmid:22262734", "pmid:21830088", "pmid:21776984", "pmid:21745819", "pmid:21652007", "pmid:21486239", "pmid:21397024", "pmid:21181307", "pmid:21127046", "pmid:21051337", "pmid:21040903", "pmid:20675166", "pmid:20559546", "pmid:20506029", "pmid:20373285", "pmid:20098685", "pmid:20090835", "pmid:19956589", "pmid:19876374", "pmid:19733517", "pmid:19485941", "pmid:19370769", "pmid:19259763", "pmid:19043662", "pmid:18820300", "pmid:18697824", "pmid:18597733", "pmid:18045775", "pmid:17703324", "pmid:17498922", "pmid:28182935", "pmid:17262846", "pmid:17235301", "pmid:17024371", "pmid:16989817", "pmid:16919418", "pmid:16857735", "pmid:16764889", "pmid:16644517", "pmid:16120311", "pmid:15376485", "pmid:15340363", "pmid:15233994", "pmid:15201464", "pmid:15180699", "pmid:14978261", "pmid:14962663", "pmid:12516053", "pmid:12112211", "pmid:11939898", "pmid:11843702", "pmid:11809170", "pmid:11428460", "pmid:11340071", "pmid:11325966", "pmid:11240567", "pmid:11071107", "pmid:11054139", "pmid:10982543", "pmid:10982187", "pmid:10969848", "pmid:10896266", "pmid:10732799", "pmid:10681084", "pmid:10556290", "pmid:10230399", "pmid:10102712", "pmid:10077729", "pmid:9811933", "pmid:9779809", "pmid:9737785", "pmid:9667602", "pmid:9577387", "pmid:9443873", "pmid:9486868", "pmid:9448568", "pmid:9416816", "pmid:9409356", "pmid:9326946", "pmid:9339708", "pmid:9339680", "pmid:9270667", "pmid:9270608", "pmid:9241271", "pmid:9177790", "pmid:9153531", "pmid:9153129", "pmid:10464657", "pmid:9331900", "pmid:8751856"]
+ "additional_literature": ["pmid:42383006", "pmid:42331777", "pmid:42253100", "pmid:42227166", "pmid:42134333", "pmid:42094143", "pmid:42018061", "pmid:41954755", "pmid:41919005", "pmid:41890103", "pmid:41640354", "pmid:41432640", "pmid:41426430", "pmid:41318543", "pmid:41301739", "pmid:41278766", "pmid:41176519", "pmid:41137390", "pmid:41074692", "pmid:41014100", "pmid:40994821", "pmid:40970480", "pmid:40898875", "pmid:40880907", "pmid:40507780", "pmid:40488180", "pmid:40419681", "pmid:40404357", "pmid:40296143", "pmid:40141365", "pmid:39812846", "pmid:39810753", "pmid:39574782", "pmid:39571249", "pmid:39519164", "pmid:39496895", "pmid:39324476", "pmid:39235665", "pmid:39219417", "pmid:39062522", "pmid:38936158", "pmid:38495102", "pmid:38484450", "pmid:38396238", "pmid:38367363", "pmid:38352270", "pmid:38141359", "pmid:38063871", "pmid:38014032", "pmid:37891254", "pmid:37585105", "pmid:37006329", "pmid:36928898", "pmid:36800320", "pmid:36780807", "pmid:36777637", "pmid:36638893", "pmid:36635061", "pmid:36618024", "pmid:36511872", "pmid:36369844", "pmid:36133907", "pmid:36036008", "pmid:35850241", "pmid:35708503", "pmid:35595154", "pmid:35301072", "pmid:35182509", "pmid:34920960", "pmid:34849883", "pmid:34786480", "pmid:34747814", "pmid:34687355", "pmid:34643298", "pmid:34600502", "pmid:34408077", "pmid:34372915", "pmid:34299126", "pmid:34214898", "pmid:33820410", "pmid:33629768", "pmid:33624863", "pmid:33599954", "pmid:33592237", "pmid:33529321", "pmid:33354116", "pmid:33151022", "pmid:33028632", "pmid:32746884", "pmid:32744307", "pmid:32717741", "pmid:32608417", "pmid:32586831", "pmid:32582297", "pmid:32481586", "pmid:32385683", "pmid:32291635", "pmid:31911468", "pmid:31904895", "pmid:31877117", "pmid:31673878", "pmid:31650522", "pmid:31446150", "pmid:31279523", "pmid:30874991", "pmid:30828501", "pmid:30761510", "pmid:30635474", "pmid:30596685", "pmid:30590615", "pmid:30552117", "pmid:30519163", "pmid:30464193", "pmid:30425621", "pmid:30358880", "pmid:30237783", "pmid:30159187", "pmid:30097477", "pmid:30076049", "pmid:30065630", "pmid:29666341", "pmid:29529236", "pmid:29261783", "pmid:29125828", "pmid:29070698", "pmid:28904984", "pmid:28812047", "pmid:28716278", "pmid:28451558", "pmid:28282710", "pmid:28109580", "pmid:27518705", "pmid:27668106", "pmid:27648458", "pmid:27644330", "pmid:27522354", "pmid:27425605", "pmid:27386501", "pmid:27228352", "pmid:27206881", "pmid:27142428", "pmid:26906906", "pmid:26896803", "pmid:28392990", "pmid:26704351", "pmid:26414159", "pmid:26401053", "pmid:26393353", "pmid:26379101", "pmid:26339677", "pmid:26338206", "pmid:26301374", "pmid:26149656", "pmid:26099177", "pmid:25845763", "pmid:25831023", "pmid:25814655", "pmid:25758173", "pmid:25685137", "pmid:25681319", "pmid:25616511", "pmid:25207996", "pmid:25198290", "pmid:25112975", "pmid:25022367", "pmid:24971578", "pmid:24962209", "pmid:24858524", "pmid:24819921", "pmid:24816001", "pmid:24787137", "pmid:24714088", "pmid:24691413", "pmid:24667739", "pmid:24665325", "pmid:24613765", "pmid:24586819", "pmid:24455203", "pmid:24371004", "pmid:24327207", "pmid:24209901", "pmid:24023969", "pmid:23996585", "pmid:23943791", "pmid:23925595", "pmid:23922695", "pmid:23879205", "pmid:23838345", "pmid:23775342", "pmid:23691127", "pmid:23640016", "pmid:23625326", "pmid:23474817", "pmid:23418481", "pmid:23382970", "pmid:23280845", "pmid:25499576", "pmid:23269675", "pmid:23242090", "pmid:23071719", "pmid:22798143", "pmid:22787155", "pmid:22764244", "pmid:22752483", "pmid:22691228", "pmid:22447512", "pmid:22414340", "pmid:22409940", "pmid:22289650", "pmid:22262734", "pmid:21830088", "pmid:21776984", "pmid:21745819", "pmid:21652007", "pmid:21486239", "pmid:21397024", "pmid:21181307", "pmid:21127046", "pmid:21051337", "pmid:21040903", "pmid:20675166", "pmid:20559546", "pmid:20506029", "pmid:20373285", "pmid:20098685", "pmid:20090835", "pmid:19956589", "pmid:19876374", "pmid:19733517", "pmid:19485941", "pmid:19370769", "pmid:19259763", "pmid:19043662", "pmid:18820300", "pmid:18697824", "pmid:18597733", "pmid:18045775", "pmid:17703324", "pmid:17498922", "pmid:28182935", "pmid:17262846", "pmid:17235301", "pmid:17024371", "pmid:16989817", "pmid:16919418", "pmid:16857735", "pmid:16764889", "pmid:16644517", "pmid:16120311", "pmid:15376485", "pmid:15340363", "pmid:15233994", "pmid:15201464", "pmid:15180699", "pmid:14978261", "pmid:14962663", "pmid:12516053", "pmid:12112211", "pmid:11939898", "pmid:11843702", "pmid:11809170", "pmid:11428460", "pmid:11340071", "pmid:11325966", "pmid:11240567", "pmid:11071107", "pmid:11054139", "pmid:10982543", "pmid:10982187", "pmid:10969848", "pmid:10896266", "pmid:10732799", "pmid:10681084", "pmid:10556290", "pmid:10230399", "pmid:10102712", "pmid:10077729", "pmid:9811933", "pmid:9779809", "pmid:9737785", "pmid:9667602", "pmid:9577387", "pmid:9443873", "pmid:9486868", "pmid:9448568", "pmid:9416816", "pmid:9409356", "pmid:9326946", "pmid:9339708", "pmid:9339680", "pmid:9270667", "pmid:9270608", "pmid:9241271", "pmid:9177790", "pmid:9153531", "pmid:9153129", "pmid:10464657", "pmid:9331900", "pmid:8751856"]
},
{
"id": "OPDM2_GIPC1",
@@ -2772,7 +2772,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance", "proposed_modifier"],
"disease_tags": [],
"references": ["genereviews:NBK1305", "pmid:39441074", "pmid:21171977", "pmid:27940602", "pmid:41959367", "pmid:39572770", "pmid:35245110", "pmid:39673793", "pmid:19507258", "doi:https://doi.org/10.64898/2026.05.08.26352223", "pmid:41926793", "pmid:39824182", "pmid:41951733", "pmid:29100084", "pmid:8458085", "mondo:0007739"],
- "additional_literature": ["pmid:42210302", "pmid:42202221", "pmid:42196324", "pmid:42185880", "pmid:42183198", "pmid:42182232", "pmid:42181265", "pmid:42152675", "pmid:42109206", "pmid:42091595", "pmid:42007924", "pmid:41957010", "pmid:41916314", "pmid:41906693", "pmid:41884622", "pmid:41883719", "pmid:41850723", "pmid:41849610", "pmid:41849583", "pmid:41841355", "pmid:41838909", "pmid:41828602", "pmid:41786746", "pmid:41770933", "pmid:41762523", "pmid:41741274", "pmid:41736717", "pmid:41736445", "pmid:41697960", "pmid:41640354", "pmid:41622913", "pmid:41620818", "pmid:41612618", "pmid:41557250", "pmid:41545439", "pmid:41520110", "pmid:41462929", "pmid:41427302", "pmid:41426430", "pmid:41424860", "pmid:41418088", "pmid:41389205", "pmid:41361856", "pmid:41358280", "pmid:41346861", "pmid:41332649", "pmid:41279265", "pmid:41256123", "pmid:41254939", "pmid:41240184", "pmid:41239019", "pmid:41147028", "pmid:41139934", "pmid:41126427", "pmid:41095675", "pmid:41095094", "pmid:41084658", "pmid:41074680", "pmid:41030958", "pmid:41003760", "pmid:40985165", "pmid:40945646", "pmid:40926977", "pmid:40905034", "pmid:40898018", "pmid:40844528", "pmid:40838126", "pmid:40801627", "pmid:40796049", "pmid:40791503", "pmid:40777434", "pmid:40777236", "pmid:40752726", "pmid:40748251", "pmid:40748199", "pmid:40746751", "pmid:40702881", "pmid:40702852", "pmid:40667291", "pmid:40662609", "pmid:40643497", "pmid:40626527", "pmid:40620227", "pmid:40585812", "pmid:40563832", "pmid:40560365", "pmid:40559333", "pmid:40546037", "pmid:40520366", "pmid:40501897", "pmid:40501854", "pmid:40490511", "pmid:40450087", "pmid:40443124", "pmid:40429681", "pmid:40426848", "pmid:40419681", "pmid:40417743", "pmid:40369544", "pmid:40330856", "pmid:40319093", "pmid:40300581", "pmid:40267238", "pmid:40258535", "pmid:40221975", "pmid:40161725", "pmid:40081335", "pmid:40060574", "pmid:40055280", "pmid:40040448", "pmid:40004498", "pmid:40002561", "pmid:39984289", "pmid:39973385", "pmid:39938516", "pmid:39937881", "pmid:39923663", "pmid:39897579", "pmid:39849121", "pmid:39843658", "pmid:39825149", "pmid:39812810", "pmid:39803497", "pmid:39801710", "pmid:39772743", "pmid:39768315", "pmid:39763784", "pmid:39762660", "pmid:39713241", "pmid:39669608", "pmid:39666103", "pmid:39662690", "pmid:39651202", "pmid:39627841", "pmid:39621338", "pmid:39617003", "pmid:39614274", "pmid:39592326", "pmid:39574844", "pmid:39473968", "pmid:39457479", "pmid:39331414", "pmid:39309355", "pmid:39298485", "pmid:39270726", "pmid:39250876", "pmid:39242198", "pmid:39229124", "pmid:39185703", "pmid:39155290", "pmid:39155061", "pmid:39153206", "pmid:39115048", "pmid:39112488", "pmid:39096606", "pmid:39026894", "pmid:39023561", "pmid:38977715", "pmid:38974999", "pmid:38948755", "pmid:38931834", "pmid:38897956", "pmid:38895438", "pmid:38869243", "pmid:38841617", "pmid:38803421", "pmid:38786052", "pmid:38774633", "pmid:38749429", "pmid:38744826", "pmid:38734203", "pmid:38660915", "pmid:38627751", "pmid:38609352", "pmid:38595854", "pmid:38585669", "pmid:38544341", "pmid:38459427", "pmid:38449714", "pmid:38418081", "pmid:38416505", "pmid:38383663", "pmid:38379425", "pmid:38352602", "pmid:38291334", "pmid:38280392", "pmid:38267530", "pmid:38237588", "pmid:38195181", "pmid:38137557", "pmid:38092667", "pmid:38035176", "pmid:38007671", "pmid:38003344", "pmid:37993517", "pmid:37992538", "pmid:37961595", "pmid:37961108", "pmid:37855597", "pmid:37840138", "pmid:37831730", "pmid:37830620", "pmid:37827155", "pmid:37761940", "pmid:37751638", "pmid:37745577", "pmid:37744022", "pmid:37727506", "pmid:37716514", "pmid:37700320", "pmid:37582307", "pmid:37547003", "pmid:37535888", "pmid:37501188", "pmid:37481821", "pmid:37407555", "pmid:37379724", "pmid:37333326", "pmid:37315918", "pmid:37315450", "pmid:37306313", "pmid:37302585", "pmid:37288993", "pmid:37231148", "pmid:37199581", "pmid:37177784", "pmid:37162872", "pmid:37148558", "pmid:37146135", "pmid:37117485", "pmid:37005488", "pmid:36994811", "pmid:36958627", "pmid:36902304", "pmid:36839842", "pmid:36825038", "pmid:36797418", "pmid:36793800", "pmid:36711022", "pmid:36691277", "pmid:36658243", "pmid:36599645", "pmid:36599142", "pmid:36585400", "pmid:36550260", "pmid:36458209", "pmid:36427954", "pmid:36352624", "pmid:36344508", "pmid:36335527", "pmid:36335491", "pmid:36285345", "pmid:36262216", "pmid:36252286", "pmid:36220612", "pmid:36179426", "pmid:36130218", "pmid:36099320", "pmid:36098485", "pmid:36087538", "pmid:36075537", "pmid:36066723", "pmid:36064847", "pmid:36063627", "pmid:36009409", "pmid:35997316", "pmid:35935919", "pmid:35928225", "pmid:35926480", "pmid:35915275", "pmid:35914128", "pmid:35852957", "pmid:35803234", "pmid:35793238", "pmid:35661131", "pmid:35659303", "pmid:35628406", "pmid:35580427", "pmid:35440014", "pmid:35395816", "pmid:35379994", "pmid:35370826", "pmid:35357736", "pmid:35275350", "pmid:35241644", "pmid:35224162", "pmid:35182509", "pmid:35146388", "pmid:35143966", "pmid:35114102", "pmid:35099257", "pmid:35095420", "pmid:35058188", "pmid:35055435", "pmid:35046408", "pmid:35036881", "pmid:38835439", "pmid:34948242", "pmid:34942093", "pmid:34884469", "pmid:34880419", "pmid:34851867", "pmid:34829752", "pmid:34806402", "pmid:34800149", "pmid:34747792", "pmid:34718701", "pmid:34681268", "pmid:34663519", "pmid:34659371", "pmid:34658796", "pmid:34631219", "pmid:34608934", "pmid:34539331", "pmid:34536046", "pmid:34520257", "pmid:34504195", "pmid:34492254", "pmid:34473992", "pmid:34469738", "pmid:34423286", "pmid:34423068", "pmid:34390268", "pmid:34389718", "pmid:34376056", "pmid:34372915", "pmid:34366363", "pmid:34330701", "pmid:34301881", "pmid:34296279", "pmid:34200421", "pmid:34183222", "pmid:34180418", "pmid:34115782", "pmid:34093422", "pmid:34077591", "pmid:34071882", "pmid:34028139", "pmid:34003958", "pmid:33989290", "pmid:33983118", "pmid:33949657", "pmid:33918672", "pmid:33909994", "pmid:33907289", "pmid:33892278", "pmid:33824468", "pmid:33805940", "pmid:33766994", "pmid:33751106", "pmid:33731741", "pmid:33722743", "pmid:33710799", "pmid:33692166", "pmid:33684424", "pmid:33681777", "pmid:33675499", "pmid:33611676", "pmid:33606279", "pmid:33602179", "pmid:33581487", "pmid:33579864", "pmid:33576024", "pmid:33567536", "pmid:33556538", "pmid:33547932", "pmid:33521985", "pmid:33517535", "pmid:33500176", "pmid:33487499", "pmid:33376800", "pmid:33329316", "pmid:33310753", "pmid:33250715", "pmid:33249136", "pmid:33247537", "pmid:33242422", "pmid:33228555", "pmid:33209959", "pmid:33159825", "pmid:33108594", "pmid:33106889", "pmid:33105495", "pmid:33044188", "pmid:32979842", "pmid:32979507", "pmid:32975927", "pmid:32956974", "pmid:32954323", "pmid:32898862", "pmid:32876667", "pmid:32825467", "pmid:32807001", "pmid:32784364", "pmid:32761094", "pmid:32741964", "pmid:32702387", "pmid:32696070", "pmid:32675418", "pmid:32668197", "pmid:32661355", "pmid:32656337", "pmid:32612964", "pmid:32589923", "pmid:32580238", "pmid:32555394", "pmid:32548276", "pmid:32533168", "pmid:32500377", "pmid:32469433", "pmid:32439598", "pmid:32424160", "pmid:32339315", "pmid:32329133", "pmid:32260409", "pmid:32240172", "pmid:32189861", "pmid:32179492", "pmid:32164608", "pmid:32124191", "pmid:32102602", "pmid:32093602", "pmid:32077165", "pmid:32060489", "pmid:32043503", "pmid:31985471", "pmid:31940111", "pmid:31922295", "pmid:31893246", "pmid:31844074", "pmid:31828084", "pmid:31820322", "pmid:31810584", "pmid:31796991", "pmid:31785809", "pmid:31728006", "pmid:31725947", "pmid:31722751", "pmid:31712634", "pmid:31695145", "pmid:31614197", "pmid:31607598", "pmid:31599037", "pmid:31595198", "pmid:31586340", "pmid:31561381", "pmid:31546689", "pmid:31522753", "pmid:31491822", "pmid:31465962", "pmid:31403680", "pmid:31398342", "pmid:31379510", "pmid:31326748", "pmid:31302194", "pmid:31184975", "pmid:31114543", "pmid:31108174", "pmid:31104771", "pmid:31103960", "pmid:31086827", "pmid:31079989", "pmid:31059641", "pmid:30984798", "pmid:30961637", "pmid:30891880", "pmid:30887245", "pmid:30867264", "pmid:30850442", "pmid:30838312", "pmid:30811996", "pmid:30788902", "pmid:30726572", "pmid:30689590", "pmid:30682531", "pmid:30672003", "pmid:30631090", "pmid:30624705", "pmid:30618600", "pmid:30618191", "pmid:30615214", "pmid:30576007", "pmid:30550751", "pmid:30523767", "pmid:30396032", "pmid:30376191", "pmid:30358836", "pmid:30354976", "pmid:30336474", "pmid:30314815", "pmid:30262848", "pmid:30256717", "pmid:30239724", "pmid:30194983", "pmid:30194046", "pmid:30185623", "pmid:30171891", "pmid:30149534", "pmid:30126429", "pmid:30122542", "pmid:30120431", "pmid:30103339", "pmid:30103338", "pmid:30028085", "pmid:30007561", "pmid:29984244", "pmid:29945620", "pmid:29932473", "pmid:29925548", "pmid:29902468", "pmid:29881950", "pmid:29858077", "pmid:29813067", "pmid:29804730", "pmid:29801887", "pmid:29791508", "pmid:29743609", "pmid:29738460", "pmid:29715545", "pmid:29694882", "pmid:29687370", "pmid:29685790", "pmid:29682858", "pmid:29670796", "pmid:29660633", "pmid:29619771", "pmid:29581148", "pmid:29564144", "pmid:29535594", "pmid:29513687", "pmid:29494703", "pmid:29491012", "pmid:29480209", "pmid:29480205", "pmid:29480204", "pmid:29466333", "pmid:29462355", "pmid:29460498", "pmid:29459817", "pmid:29451775", "pmid:29441485", "pmid:29440125", "pmid:29378824", "pmid:29375575", "pmid:29367444", "pmid:29346421", "pmid:29324753", "pmid:29291624", "pmid:29264979", "pmid:29253686", "pmid:29249939", "pmid:29230030", "pmid:29229845", "pmid:29212711", "pmid:29172480", "pmid:29160844", "pmid:29066237", "pmid:29046994", "pmid:29043641", "pmid:29036832", "pmid:28986324", "pmid:28984613", "pmid:28971447", "pmid:28843844", "pmid:28743452", "pmid:28729730", "pmid:28715425", "pmid:28698602", "pmid:28661018", "pmid:28657159", "pmid:28653853", "pmid:28652746", "pmid:28642124", "pmid:28621522", "pmid:28585930", "pmid:28582868", "pmid:28536578", "pmid:28494017", "pmid:28465506", "pmid:28412438", "pmid:28406926", "pmid:28400517", "pmid:28359739", "pmid:28339398", "pmid:28270748", "pmid:28266655", "pmid:28238795", "pmid:28205498", "pmid:28202696", "pmid:28165127", "pmid:28153533", "pmid:28129107", "pmid:28096892", "pmid:28000697", "pmid:27983559", "pmid:27913616", "pmid:27870408", "pmid:27868347", "pmid:27818324", "pmid:27681197", "pmid:27774050", "pmid:27740685", "pmid:27714917", "pmid:27689620", "pmid:27677791", "pmid:27662335", "pmid:27658206", "pmid:27639545", "pmid:27611938", "pmid:27540492", "pmid:27481337", "pmid:27479945", "pmid:27477323", "pmid:27400454", "pmid:27376585", "pmid:27335115", "pmid:27335079", "pmid:27318215", "pmid:27288455", "pmid:27271685", "pmid:27221610", "pmid:27207688", "pmid:27182645", "pmid:27170315", "pmid:27085395", "pmid:27080129", "pmid:27031731", "pmid:27014581", "pmid:27003665", "pmid:27003663", "pmid:27002149", "pmid:26982737", "pmid:26958025", "pmid:26951563", "pmid:26900923", "pmid:26874369", "pmid:26864449", "pmid:26849111", "pmid:26846325", "pmid:26702360", "pmid:26682993", "pmid:26651603", "pmid:26642438", "pmid:26621114", "pmid:26615955", "pmid:26557176", "pmid:26490331", "pmid:26439718", "pmid:26428929", "pmid:26410751", "pmid:26397897", "pmid:26397895", "pmid:26378991", "pmid:26375764", "pmid:26333255", "pmid:26320893", "pmid:26247199", "pmid:26232222", "pmid:26219658", "pmid:26218986", "pmid:26201449", "pmid:26195796", "pmid:26148071", "pmid:26148061", "pmid:26100538", "pmid:26081309", "pmid:26079385", "pmid:25993131", "pmid:25990798", "pmid:25972145", "pmid:25953777", "pmid:25934536", "pmid:25928884", "pmid:25889241", "pmid:25876513", "pmid:25871323", "pmid:25859666", "pmid:25850430", "pmid:25849618", "pmid:25800750", "pmid:25767004", "pmid:25732261", "pmid:25703232", "pmid:25687118", "pmid:25678252", "pmid:25662336", "pmid:25642374", "pmid:25606985", "pmid:25574027", "pmid:25562842", "pmid:25466405", "pmid:25464109", "pmid:25453459", "pmid:25447230", "pmid:25385587", "pmid:25380582", "pmid:25358814", "pmid:25322077", "pmid:25316307", "pmid:25300333", "pmid:25300330", "pmid:25248608", "pmid:25246229", "pmid:25207939", "pmid:25136821", "pmid:25101541", "pmid:25099302", "pmid:25088714", "pmid:25062863", "pmid:25062764", "pmid:25035419", "pmid:25034271", "pmid:25026978", "pmid:24972706", "pmid:24951540", "pmid:24938402", "pmid:24921664", "pmid:24911443", "pmid:24841383", "pmid:24825316", "pmid:24816393", "pmid:24788406", "pmid:24784230", "pmid:24751919", "pmid:24728353", "pmid:24706734", "pmid:24633813", "pmid:24566949", "pmid:24564568", "pmid:24534762", "pmid:24465260", "pmid:24462335", "pmid:24459609", "pmid:24459107", "pmid:24452335", "pmid:24405816", "pmid:24390280", "pmid:24389360", "pmid:24380395", "pmid:24363131", "pmid:24359926", "pmid:24314096", "pmid:24292706", "pmid:24286237", "pmid:24270512", "pmid:24192302", "pmid:24047873", "pmid:24041806", "pmid:24038471", "pmid:24027120", "pmid:24022020", "pmid:24019913", "pmid:24000094", "pmid:23974869", "pmid:23963702", "pmid:23946314", "pmid:23933208", "pmid:23906595", "pmid:23896435", "pmid:23894380", "pmid:23847583", "pmid:23775678", "pmid:23765727", "pmid:23732677", "pmid:23664844", "pmid:23644918", "pmid:23624566", "pmid:23595883", "pmid:23576953", "pmid:23557875", "pmid:23525903", "pmid:23494654", "pmid:23480802", "pmid:23443539", "pmid:23440000", "pmid:23437422", "pmid:23419892", "pmid:23416527", "pmid:23398026", "pmid:23372043", "pmid:23346156", "pmid:23341618", "pmid:23300918", "pmid:23284626", "pmid:23277128", "pmid:25063431", "pmid:23157165", "pmid:23083689", "pmid:23054839", "pmid:23051704", "pmid:23042244", "pmid:23008174", "pmid:22993450", "pmid:22985800", "pmid:22974690", "pmid:22914735", "pmid:22833283", "pmid:22814437", "pmid:22803944", "pmid:22786682", "pmid:22748968", "pmid:22720673", "pmid:22674458", "pmid:22668780", "pmid:22649062", "pmid:22623107", "pmid:22613578", "pmid:22589249", "pmid:22583646", "pmid:22580959", "pmid:22580459", "pmid:22542623", "pmid:22537721", "pmid:22526956", "pmid:22497302", "pmid:26307259", "pmid:22454241", "pmid:22425717", "pmid:22409360", "pmid:22387017", "pmid:22383888", "pmid:22367996", "pmid:22359536", "pmid:22323755", "pmid:22306231", "pmid:22297462", "pmid:22274789", "pmid:22237433", "pmid:22235343", "pmid:22219281", "pmid:22216210", "pmid:22210241", "pmid:24353748", "pmid:23925262", "pmid:23476655", "pmid:22179316", "pmid:22178474", "pmid:22124413", "pmid:22072510", "pmid:22011578", "pmid:21989477", "pmid:21962718", "pmid:21951270", "pmid:21915913", "pmid:21909428", "pmid:21907324", "pmid:21897851", "pmid:21896309", "pmid:21858921", "pmid:21672921", "pmid:21566259", "pmid:21555070", "pmid:21540131", "pmid:21519949", "pmid:21509658", "pmid:21507249", "pmid:21432905", "pmid:21427085", "pmid:21370269", "pmid:21347256", "pmid:21334439", "pmid:21322024", "pmid:21297956", "pmid:21247881", "pmid:21211002", "pmid:21192926", "pmid:22832606", "pmid:22453877", "pmid:21177255", "pmid:21170307", "pmid:21147489", "pmid:21108634", "pmid:21106039", "pmid:21068430", "pmid:21037797", "pmid:21037796", "pmid:21028906", "pmid:20935170", "pmid:20919768", "pmid:24868381", "pmid:20877453", "pmid:20864123", "pmid:20697744", "pmid:20688164", "pmid:20655708", "pmid:20645403", "pmid:20629137", "pmid:20585470", "pmid:20569486", "pmid:20552561", "pmid:20457230", "pmid:20385209", "pmid:20360314", "pmid:20217280", "pmid:20190273", "pmid:20145031", "pmid:22353486", "pmid:20001119", "pmid:19997493", "pmid:19956633", "pmid:19895335", "pmid:19882735", "pmid:19857538", "pmid:19823894", "pmid:19810823", "pmid:19776381", "pmid:19652143", "pmid:19649213", "pmid:19621255", "pmid:19607813", "pmid:19595623", "pmid:19586540", "pmid:19573560", "pmid:19573298", "pmid:21048629", "pmid:19484127", "pmid:19465745", "pmid:19455596", "pmid:19412185", "pmid:19270701", "pmid:19266143", "pmid:19250382", "pmid:19249009", "pmid:21415933", "pmid:19243073", "pmid:19210789", "pmid:19200948", "pmid:19200361", "pmid:19193881", "pmid:19133136", "pmid:19130884", "pmid:19064745", "pmid:19059613", "pmid:19014073", "pmid:19012814", "pmid:18986359", "pmid:18981372", "pmid:18931668", "pmid:18930824", "pmid:18854207", "pmid:18844975", "pmid:18754766", "pmid:18688140", "pmid:18640989", "pmid:18608348", "pmid:18512767", "pmid:18502655", "pmid:18481795", "pmid:18441666", "pmid:18430257", "pmid:18413470", "pmid:18403212", "pmid:18403126", "pmid:18398004", "pmid:18387780", "pmid:18380486", "pmid:18373410", "pmid:18349696", "pmid:18314311", "pmid:18307262", "pmid:18299573", "pmid:18298206", "pmid:18231868", "pmid:18204817", "pmid:18192679", "pmid:19378429", "pmid:18158109", "pmid:18157708", "pmid:18096682", "pmid:18091069", "pmid:18077673", "pmid:18068007", "pmid:18067195", "pmid:18057558", "pmid:18004675", "pmid:17952586", "pmid:17947312", "pmid:17726644", "pmid:17707354", "pmid:17687393", "pmid:17665004", "pmid:17660463", "pmid:17653603", "pmid:17653274", "pmid:17653262", "pmid:17627386", "pmid:17615168", "pmid:17610899", "pmid:17584778", "pmid:17569088", "pmid:17562929", "pmid:17557337", "pmid:17548158", "pmid:17516481", "pmid:17493035", "pmid:17478887", "pmid:17427191", "pmid:17409200", "pmid:17383831", "pmid:17363167", "pmid:17356014", "pmid:17352933", "pmid:17352932", "pmid:17352931", "pmid:17352930", "pmid:17307423", "pmid:17299512", "pmid:17293170", "pmid:17291464", "pmid:17183717", "pmid:17181545", "pmid:17174018", "pmid:17115386", "pmid:17096834", "pmid:17055784", "pmid:17040921", "pmid:17018562", "pmid:17018277", "pmid:16987871", "pmid:16981596", "pmid:16980414", "pmid:16973440", "pmid:16925544", "pmid:16918952", "pmid:16914060", "pmid:16858508", "pmid:16772714", "pmid:16769871", "pmid:16751280", "pmid:16690085", "pmid:16687439", "pmid:16626669", "pmid:16606912", "pmid:16600988", "pmid:16570300", "pmid:16564426", "pmid:16526033", "pmid:16515395", "pmid:16461334", "pmid:16434483", "pmid:16395126", "pmid:16372906", "pmid:16321399", "pmid:16261565", "pmid:16221531", "pmid:16159402", "pmid:16135087", "pmid:16125146", "pmid:16111888", "pmid:16096998", "pmid:16082690", "pmid:16040812", "pmid:16033418", "pmid:16007623", "pmid:15986189", "pmid:15954918", "pmid:15906159", "pmid:15850737", "pmid:15848234", "pmid:15843398", "pmid:15832309", "pmid:15811941", "pmid:15764008", "pmid:15758168", "pmid:15742215", "pmid:15722951", "pmid:15716522", "pmid:15704211", "pmid:15635668", "pmid:15531095", "pmid:15496672", "pmid:15496421", "pmid:15468075", "pmid:15372528", "pmid:15365789", "pmid:15361494", "pmid:15354395", "pmid:15345132", "pmid:15254954", "pmid:15229244", "pmid:15211622", "pmid:15201464", "pmid:15201455", "pmid:15193429", "pmid:15147313", "pmid:15094787", "pmid:15076735", "pmid:15040808", "pmid:15025718", "pmid:14999077", "pmid:14993615", "pmid:14713958", "pmid:14708029", "pmid:14688268", "pmid:14673581", "pmid:14625278", "pmid:14625025", "pmid:14581669", "pmid:14570710", "pmid:12966525", "pmid:12926013", "pmid:12895502", "pmid:12886033", "pmid:12850791", "pmid:12824708", "pmid:12805114", "pmid:12797118", "pmid:12791042", "pmid:12783847", "pmid:12782968", "pmid:12700167", "pmid:12599191", "pmid:12576549", "pmid:12554681", "pmid:12460551", "pmid:12438470", "pmid:12405543", "pmid:12393802", "pmid:12354780", "pmid:12226089", "pmid:12223581", "pmid:12221159", "pmid:12218657", "pmid:12208565", "pmid:12177311", "pmid:12123845", "pmid:12097805", "pmid:11979062", "pmid:11978769", "pmid:11920857", "pmid:11914418", "pmid:11807410", "pmid:11782460", "pmid:11761463", "pmid:11741397", "pmid:11704263", "pmid:11689489", "pmid:11607033", "pmid:11593450", "pmid:11592850", "pmid:11558794", "pmid:11552131", "pmid:11532992", "pmid:11524486", "pmid:11520890", "pmid:11494364", "pmid:11483245", "pmid:11386982", "pmid:11409734", "pmid:11406606", "pmid:11340249", "pmid:11331615", "pmid:11317220", "pmid:11279522", "pmid:11260214", "pmid:22034471", "pmid:11225602", "pmid:11172033", "pmid:11152661", "pmid:11106399", "pmid:11105061", "pmid:11063736", "pmid:11040449", "pmid:11030759", "pmid:11021756", "pmid:11013077", "pmid:11009201", "pmid:10980573", "pmid:10964480", "pmid:10880387", "pmid:10860124", "pmid:10814708", "pmid:10794362", "pmid:10780268", "pmid:10770860", "pmid:10766906", "pmid:10717003", "pmid:10712225", "pmid:10677504", "pmid:10666223", "pmid:10631644", "pmid:10611371", "pmid:10581038", "pmid:10574348", "pmid:10564878", "pmid:10533044", "pmid:10522893", "pmid:10502848", "pmid:10502825", "pmid:10489045", "pmid:10486315", "pmid:10478585", "pmid:10441327", "pmid:10441201", "pmid:10434306", "pmid:10434303", "pmid:10434297", "pmid:10434295", "pmid:10405095", "pmid:10398087", "pmid:10334474", "pmid:10333377", "pmid:10206229", "pmid:10197541", "pmid:10196370", "pmid:10196365", "pmid:10098889", "pmid:10091627", "pmid:10090478", "pmid:10082833", "pmid:10052816", "pmid:10051007", "pmid:10023115", "pmid:9949443", "pmid:9949199", "pmid:9932964", "pmid:9887339", "pmid:9818876", "pmid:9806905", "pmid:9792871", "pmid:9768849", "pmid:9684917", "pmid:9674805", "pmid:9666478", "pmid:9647305", "pmid:9626775", "pmid:9611675", "pmid:9527890", "pmid:9536082", "pmid:9536081", "pmid:9536080", "pmid:9595987", "pmid:9577843", "pmid:9514585", "pmid:9514579", "pmid:9361024", "pmid:9485067", "pmid:9462548", "pmid:9415475", "pmid:23604331", "pmid:9399688", "pmid:9398841", "pmid:9388503", "pmid:9339688", "pmid:9299885", "pmid:9299309", "pmid:9267034", "pmid:9267033", "pmid:9152833", "pmid:9150744", "pmid:9150168", "pmid:9108071", "pmid:9106534", "pmid:9143014", "pmid:10462592", "pmid:9020849", "pmid:9401013", "pmid:9219003", "pmid:9002673", "pmid:9384710", "pmid:8931689", "pmid:8898202", "pmid:8855141", "pmid:8912795", "pmid:8751857", "pmid:8659522", "pmid:8735227", "pmid:8643525", "pmid:8678115", "pmid:8606810", "pmid:8714530", "pmid:8614526", "pmid:8985734", "pmid:8954302", "pmid:8840396", "pmid:8766138", "pmid:8572659", "pmid:8557266", "pmid:7477379", "pmid:8804464", "pmid:7576661", "pmid:7568002", "pmid:8544189", "pmid:8541834", "pmid:7668287", "pmid:7668260", "pmid:7639626", "pmid:7484060", "pmid:7480359", "pmid:7774020", "pmid:7675777", "pmid:7898693", "pmid:7868117", "pmid:7634532", "pmid:7757069", "pmid:9173995", "pmid:7881406", "pmid:7969980", "pmid:7959696", "pmid:7853373", "pmid:7915776", "pmid:7815437", "pmid:8208412", "pmid:8178825", "pmid:8064815", "pmid:7909529", "pmid:8162059", "pmid:8162055", "pmid:8162053", "pmid:8044653", "pmid:7888133", "pmid:7865169", "pmid:8133511", "pmid:8133510", "pmid:8133508", "pmid:8133495", "pmid:8111374", "pmid:8087617", "pmid:8105214", "pmid:8268906", "pmid:8252042", "pmid:8242074", "pmid:8401589", "pmid:8401588", "pmid:8401587", "pmid:2521771", "pmid:2971929", "pmid:3131233"]
+ "additional_literature": ["pmid:42385197", "pmid:42362792", "pmid:42327018", "pmid:42317610", "pmid:42308683", "pmid:42238417", "pmid:42231151", "pmid:42210302", "pmid:42202221", "pmid:42196324", "pmid:42185880", "pmid:42183198", "pmid:42182232", "pmid:42181265", "pmid:42152675", "pmid:42109206", "pmid:42091595", "pmid:42007924", "pmid:41957010", "pmid:41916314", "pmid:41906693", "pmid:41884622", "pmid:41883719", "pmid:41850723", "pmid:41849610", "pmid:41849583", "pmid:41841355", "pmid:41838909", "pmid:41828602", "pmid:41786746", "pmid:41770933", "pmid:41762523", "pmid:41741274", "pmid:41736717", "pmid:41736445", "pmid:41697960", "pmid:41640354", "pmid:41622913", "pmid:41620818", "pmid:41557250", "pmid:41545439", "pmid:41520110", "pmid:41462929", "pmid:41427302", "pmid:41426430", "pmid:41424860", "pmid:41418088", "pmid:41389205", "pmid:41361856", "pmid:41358280", "pmid:41346861", "pmid:41332649", "pmid:41279265", "pmid:41256123", "pmid:41254939", "pmid:41240184", "pmid:41239019", "pmid:41147028", "pmid:41139934", "pmid:41126427", "pmid:41095675", "pmid:41095094", "pmid:41084658", "pmid:41074680", "pmid:41030958", "pmid:41003760", "pmid:40985165", "pmid:40945646", "pmid:40926977", "pmid:40905034", "pmid:40898018", "pmid:40844528", "pmid:40838126", "pmid:40801627", "pmid:40796049", "pmid:40791503", "pmid:40777434", "pmid:40777236", "pmid:40752726", "pmid:40748251", "pmid:40748199", "pmid:40746751", "pmid:40702881", "pmid:40702852", "pmid:40667291", "pmid:40662609", "pmid:40643497", "pmid:40626527", "pmid:40620227", "pmid:40585812", "pmid:40563832", "pmid:40560365", "pmid:40559333", "pmid:40546037", "pmid:40520366", "pmid:40501897", "pmid:40501854", "pmid:40490511", "pmid:40450087", "pmid:40443124", "pmid:40429681", "pmid:40426848", "pmid:40419681", "pmid:40417743", "pmid:40369544", "pmid:40330856", "pmid:40319093", "pmid:40300581", "pmid:40267238", "pmid:40258535", "pmid:40221975", "pmid:40161725", "pmid:40081335", "pmid:40060574", "pmid:40055280", "pmid:40040448", "pmid:40004498", "pmid:40002561", "pmid:39984289", "pmid:39973385", "pmid:39938516", "pmid:39937881", "pmid:39923663", "pmid:39897579", "pmid:39849121", "pmid:39843658", "pmid:39825149", "pmid:39812810", "pmid:39803497", "pmid:39801710", "pmid:39772743", "pmid:39768315", "pmid:39763784", "pmid:39762660", "pmid:39713241", "pmid:39669608", "pmid:39666103", "pmid:39662690", "pmid:39651202", "pmid:39627841", "pmid:39621338", "pmid:39617003", "pmid:39614274", "pmid:39592326", "pmid:39574844", "pmid:39473968", "pmid:39457479", "pmid:39331414", "pmid:39309355", "pmid:39298485", "pmid:39270726", "pmid:39250876", "pmid:39242198", "pmid:39229124", "pmid:39185703", "pmid:39155290", "pmid:39155061", "pmid:39153206", "pmid:39115048", "pmid:39112488", "pmid:39096606", "pmid:39026894", "pmid:39023561", "pmid:38977715", "pmid:38974999", "pmid:38948755", "pmid:38931834", "pmid:38897956", "pmid:38895438", "pmid:38869243", "pmid:38841617", "pmid:38803421", "pmid:38786052", "pmid:38774633", "pmid:38749429", "pmid:38744826", "pmid:38734203", "pmid:38660915", "pmid:38627751", "pmid:38609352", "pmid:38595854", "pmid:38585669", "pmid:38544341", "pmid:38459427", "pmid:38449714", "pmid:38418081", "pmid:38416505", "pmid:38383663", "pmid:38379425", "pmid:38352602", "pmid:38291334", "pmid:38280392", "pmid:38267530", "pmid:38237588", "pmid:38195181", "pmid:38137557", "pmid:38092667", "pmid:38035176", "pmid:38007671", "pmid:38003344", "pmid:37993517", "pmid:37992538", "pmid:37961595", "pmid:37961108", "pmid:37855597", "pmid:37840138", "pmid:37831730", "pmid:37830620", "pmid:37827155", "pmid:37761940", "pmid:37751638", "pmid:37745577", "pmid:37744022", "pmid:37727506", "pmid:37716514", "pmid:37700320", "pmid:37582307", "pmid:37547003", "pmid:37535888", "pmid:37501188", "pmid:37481821", "pmid:37407555", "pmid:37379724", "pmid:37333326", "pmid:37315918", "pmid:37315450", "pmid:37306313", "pmid:37302585", "pmid:37288993", "pmid:37231148", "pmid:37199581", "pmid:37177784", "pmid:37162872", "pmid:37148558", "pmid:37146135", "pmid:37117485", "pmid:37005488", "pmid:36994811", "pmid:36958627", "pmid:36902304", "pmid:36839842", "pmid:36825038", "pmid:36797418", "pmid:36793800", "pmid:36711022", "pmid:36691277", "pmid:36658243", "pmid:36599645", "pmid:36599142", "pmid:36585400", "pmid:36550260", "pmid:36458209", "pmid:36427954", "pmid:36352624", "pmid:36344508", "pmid:36335527", "pmid:36335491", "pmid:36285345", "pmid:36262216", "pmid:36252286", "pmid:36220612", "pmid:36179426", "pmid:36130218", "pmid:36099320", "pmid:36098485", "pmid:36087538", "pmid:36075537", "pmid:36066723", "pmid:36064847", "pmid:36063627", "pmid:36009409", "pmid:35997316", "pmid:35935919", "pmid:35928225", "pmid:35926480", "pmid:35915275", "pmid:35914128", "pmid:35852957", "pmid:35803234", "pmid:35793238", "pmid:35661131", "pmid:35659303", "pmid:35628406", "pmid:35580427", "pmid:35440014", "pmid:35395816", "pmid:35379994", "pmid:35370826", "pmid:35357736", "pmid:35275350", "pmid:35241644", "pmid:35224162", "pmid:35182509", "pmid:35146388", "pmid:35143966", "pmid:35114102", "pmid:35099257", "pmid:35095420", "pmid:35058188", "pmid:35055435", "pmid:35046408", "pmid:35036881", "pmid:38835439", "pmid:34948242", "pmid:34942093", "pmid:34884469", "pmid:34880419", "pmid:34851867", "pmid:34829752", "pmid:34806402", "pmid:34800149", "pmid:34747792", "pmid:34718701", "pmid:34681268", "pmid:34663519", "pmid:34659371", "pmid:34658796", "pmid:34631219", "pmid:34608934", "pmid:34539331", "pmid:34536046", "pmid:34520257", "pmid:34504195", "pmid:34492254", "pmid:34473992", "pmid:34469738", "pmid:34423286", "pmid:34423068", "pmid:34390268", "pmid:34389718", "pmid:34376056", "pmid:34372915", "pmid:34366363", "pmid:34330701", "pmid:34301881", "pmid:34296279", "pmid:34200421", "pmid:34183222", "pmid:34180418", "pmid:34115782", "pmid:34093422", "pmid:34077591", "pmid:34071882", "pmid:34028139", "pmid:34003958", "pmid:33989290", "pmid:33983118", "pmid:33949657", "pmid:33918672", "pmid:33909994", "pmid:33907289", "pmid:33892278", "pmid:33824468", "pmid:33805940", "pmid:33766994", "pmid:33751106", "pmid:33731741", "pmid:33722743", "pmid:33710799", "pmid:33692166", "pmid:33684424", "pmid:33681777", "pmid:33675499", "pmid:33611676", "pmid:33606279", "pmid:33602179", "pmid:33581487", "pmid:33579864", "pmid:33576024", "pmid:33567536", "pmid:33556538", "pmid:33547932", "pmid:33521985", "pmid:33517535", "pmid:33500176", "pmid:33487499", "pmid:33376800", "pmid:33329316", "pmid:33310753", "pmid:33250715", "pmid:33249136", "pmid:33247537", "pmid:33242422", "pmid:33228555", "pmid:33209959", "pmid:33159825", "pmid:33108594", "pmid:33106889", "pmid:33105495", "pmid:33044188", "pmid:32979842", "pmid:32979507", "pmid:32975927", "pmid:32956974", "pmid:32954323", "pmid:32898862", "pmid:32876667", "pmid:32825467", "pmid:32807001", "pmid:32784364", "pmid:32761094", "pmid:32741964", "pmid:32702387", "pmid:32696070", "pmid:32675418", "pmid:32668197", "pmid:32661355", "pmid:32656337", "pmid:32612964", "pmid:32589923", "pmid:32580238", "pmid:32555394", "pmid:32548276", "pmid:32533168", "pmid:32500377", "pmid:32469433", "pmid:32439598", "pmid:32424160", "pmid:32339315", "pmid:32329133", "pmid:32260409", "pmid:32240172", "pmid:32189861", "pmid:32179492", "pmid:32164608", "pmid:32124191", "pmid:32102602", "pmid:32093602", "pmid:32077165", "pmid:32060489", "pmid:32043503", "pmid:31985471", "pmid:31940111", "pmid:31922295", "pmid:31893246", "pmid:31844074", "pmid:31828084", "pmid:31820322", "pmid:31810584", "pmid:31796991", "pmid:31785809", "pmid:31728006", "pmid:31725947", "pmid:31722751", "pmid:31712634", "pmid:31695145", "pmid:31614197", "pmid:31607598", "pmid:31599037", "pmid:31595198", "pmid:31586340", "pmid:31561381", "pmid:31546689", "pmid:31522753", "pmid:31491822", "pmid:31465962", "pmid:31403680", "pmid:31398342", "pmid:31379510", "pmid:31326748", "pmid:31302194", "pmid:31184975", "pmid:31114543", "pmid:31108174", "pmid:31104771", "pmid:31103960", "pmid:31086827", "pmid:31079989", "pmid:31059641", "pmid:30984798", "pmid:30961637", "pmid:30891880", "pmid:30887245", "pmid:30867264", "pmid:30850442", "pmid:30838312", "pmid:30811996", "pmid:30788902", "pmid:30726572", "pmid:30689590", "pmid:30682531", "pmid:30672003", "pmid:30631090", "pmid:30624705", "pmid:30618600", "pmid:30618191", "pmid:30615214", "pmid:30576007", "pmid:30550751", "pmid:30523767", "pmid:30396032", "pmid:30376191", "pmid:30358836", "pmid:30354976", "pmid:30336474", "pmid:30314815", "pmid:30262848", "pmid:30256717", "pmid:30239724", "pmid:30194983", "pmid:30194046", "pmid:30185623", "pmid:30171891", "pmid:30149534", "pmid:30126429", "pmid:30122542", "pmid:30120431", "pmid:30103339", "pmid:30103338", "pmid:30028085", "pmid:30007561", "pmid:29984244", "pmid:29945620", "pmid:29932473", "pmid:29925548", "pmid:29902468", "pmid:29881950", "pmid:29858077", "pmid:29813067", "pmid:29804730", "pmid:29801887", "pmid:29791508", "pmid:29743609", "pmid:29738460", "pmid:29715545", "pmid:29694882", "pmid:29687370", "pmid:29685790", "pmid:29682858", "pmid:29670796", "pmid:29660633", "pmid:29619771", "pmid:29581148", "pmid:29564144", "pmid:29535594", "pmid:29513687", "pmid:29494703", "pmid:29491012", "pmid:29480209", "pmid:29480205", "pmid:29480204", "pmid:29466333", "pmid:29462355", "pmid:29460498", "pmid:29459817", "pmid:29451775", "pmid:29441485", "pmid:29440125", "pmid:29378824", "pmid:29375575", "pmid:29367444", "pmid:29346421", "pmid:29324753", "pmid:29291624", "pmid:29264979", "pmid:29253686", "pmid:29249939", "pmid:29230030", "pmid:29229845", "pmid:29212711", "pmid:29172480", "pmid:29160844", "pmid:29066237", "pmid:29046994", "pmid:29043641", "pmid:29036832", "pmid:28986324", "pmid:28984613", "pmid:28971447", "pmid:28843844", "pmid:28743452", "pmid:28729730", "pmid:28715425", "pmid:28698602", "pmid:28661018", "pmid:28657159", "pmid:28653853", "pmid:28652746", "pmid:28642124", "pmid:28621522", "pmid:28585930", "pmid:28582868", "pmid:28536578", "pmid:28494017", "pmid:28465506", "pmid:28412438", "pmid:28406926", "pmid:28400517", "pmid:28359739", "pmid:28339398", "pmid:28270748", "pmid:28266655", "pmid:28238795", "pmid:28205498", "pmid:28202696", "pmid:28165127", "pmid:28153533", "pmid:28129107", "pmid:28096892", "pmid:28000697", "pmid:27983559", "pmid:27913616", "pmid:27870408", "pmid:27868347", "pmid:27818324", "pmid:27681197", "pmid:27774050", "pmid:27740685", "pmid:27714917", "pmid:27689620", "pmid:27677791", "pmid:27662335", "pmid:27658206", "pmid:27639545", "pmid:27611938", "pmid:27540492", "pmid:27481337", "pmid:27479945", "pmid:27477323", "pmid:27400454", "pmid:27376585", "pmid:27335115", "pmid:27335079", "pmid:27318215", "pmid:27288455", "pmid:27271685", "pmid:27221610", "pmid:27207688", "pmid:27182645", "pmid:27170315", "pmid:27085395", "pmid:27080129", "pmid:27031731", "pmid:27014581", "pmid:27003665", "pmid:27003663", "pmid:27002149", "pmid:26982737", "pmid:26958025", "pmid:26951563", "pmid:26900923", "pmid:26874369", "pmid:26864449", "pmid:26849111", "pmid:26846325", "pmid:26702360", "pmid:26682993", "pmid:26651603", "pmid:26642438", "pmid:26621114", "pmid:26615955", "pmid:26557176", "pmid:26490331", "pmid:26439718", "pmid:26428929", "pmid:26410751", "pmid:26397897", "pmid:26397895", "pmid:26378991", "pmid:26375764", "pmid:26333255", "pmid:26320893", "pmid:26247199", "pmid:26232222", "pmid:26219658", "pmid:26218986", "pmid:26201449", "pmid:26195796", "pmid:26148071", "pmid:26148061", "pmid:26100538", "pmid:26081309", "pmid:26079385", "pmid:25993131", "pmid:25990798", "pmid:25972145", "pmid:25953777", "pmid:25934536", "pmid:25928884", "pmid:25889241", "pmid:25876513", "pmid:25871323", "pmid:25859666", "pmid:25850430", "pmid:25849618", "pmid:25800750", "pmid:25767004", "pmid:25732261", "pmid:25703232", "pmid:25687118", "pmid:25678252", "pmid:25662336", "pmid:25642374", "pmid:25606985", "pmid:25574027", "pmid:25562842", "pmid:25466405", "pmid:25464109", "pmid:25453459", "pmid:25447230", "pmid:25385587", "pmid:25380582", "pmid:25358814", "pmid:25322077", "pmid:25316307", "pmid:25300333", "pmid:25300330", "pmid:25248608", "pmid:25246229", "pmid:25207939", "pmid:25136821", "pmid:25101541", "pmid:25099302", "pmid:25088714", "pmid:25062863", "pmid:25062764", "pmid:25035419", "pmid:25034271", "pmid:25026978", "pmid:24972706", "pmid:24951540", "pmid:24938402", "pmid:24921664", "pmid:24911443", "pmid:24841383", "pmid:24825316", "pmid:24816393", "pmid:24788406", "pmid:24784230", "pmid:24751919", "pmid:24728353", "pmid:24706734", "pmid:24633813", "pmid:24566949", "pmid:24564568", "pmid:24534762", "pmid:24465260", "pmid:24462335", "pmid:24459609", "pmid:24459107", "pmid:24452335", "pmid:24405816", "pmid:24390280", "pmid:24389360", "pmid:24380395", "pmid:24363131", "pmid:24359926", "pmid:24314096", "pmid:24292706", "pmid:24286237", "pmid:24270512", "pmid:24192302", "pmid:24047873", "pmid:24041806", "pmid:24038471", "pmid:24027120", "pmid:24022020", "pmid:24019913", "pmid:24000094", "pmid:23974869", "pmid:23963702", "pmid:23946314", "pmid:23933208", "pmid:23906595", "pmid:23896435", "pmid:23894380", "pmid:23847583", "pmid:23775678", "pmid:23765727", "pmid:23732677", "pmid:23664844", "pmid:23644918", "pmid:23624566", "pmid:23595883", "pmid:23576953", "pmid:23557875", "pmid:23525903", "pmid:23494654", "pmid:23480802", "pmid:23443539", "pmid:23440000", "pmid:23437422", "pmid:23419892", "pmid:23416527", "pmid:23398026", "pmid:23372043", "pmid:23346156", "pmid:23341618", "pmid:23300918", "pmid:23284626", "pmid:23277128", "pmid:25063431", "pmid:23157165", "pmid:23083689", "pmid:23054839", "pmid:23051704", "pmid:23042244", "pmid:23008174", "pmid:22993450", "pmid:22985800", "pmid:22974690", "pmid:22914735", "pmid:22833283", "pmid:22814437", "pmid:22803944", "pmid:22786682", "pmid:22748968", "pmid:22720673", "pmid:22674458", "pmid:22668780", "pmid:22649062", "pmid:22623107", "pmid:22613578", "pmid:22589249", "pmid:22583646", "pmid:22580959", "pmid:22580459", "pmid:22542623", "pmid:22537721", "pmid:22526956", "pmid:22497302", "pmid:26307259", "pmid:22454241", "pmid:22425717", "pmid:22409360", "pmid:22387017", "pmid:22383888", "pmid:22367996", "pmid:22359536", "pmid:22323755", "pmid:22306231", "pmid:22297462", "pmid:22274789", "pmid:22237433", "pmid:22235343", "pmid:22219281", "pmid:22216210", "pmid:22210241", "pmid:24353748", "pmid:23925262", "pmid:23476655", "pmid:22179316", "pmid:22178474", "pmid:22124413", "pmid:22072510", "pmid:22011578", "pmid:21989477", "pmid:21962718", "pmid:21951270", "pmid:21915913", "pmid:21909428", "pmid:21907324", "pmid:21897851", "pmid:21896309", "pmid:21858921", "pmid:21672921", "pmid:21566259", "pmid:21555070", "pmid:21540131", "pmid:21519949", "pmid:21509658", "pmid:21507249", "pmid:21432905", "pmid:21427085", "pmid:21370269", "pmid:21347256", "pmid:21334439", "pmid:21322024", "pmid:21297956", "pmid:21247881", "pmid:21211002", "pmid:21192926", "pmid:22832606", "pmid:22453877", "pmid:21177255", "pmid:21170307", "pmid:21147489", "pmid:21108634", "pmid:21106039", "pmid:21068430", "pmid:21037797", "pmid:21037796", "pmid:21028906", "pmid:20935170", "pmid:20919768", "pmid:24868381", "pmid:20877453", "pmid:20864123", "pmid:20697744", "pmid:20688164", "pmid:20655708", "pmid:20645403", "pmid:20629137", "pmid:20585470", "pmid:20569486", "pmid:20552561", "pmid:20457230", "pmid:20385209", "pmid:20360314", "pmid:20217280", "pmid:20190273", "pmid:20145031", "pmid:22353486", "pmid:20001119", "pmid:19997493", "pmid:19956633", "pmid:19895335", "pmid:19882735", "pmid:19857538", "pmid:19823894", "pmid:19810823", "pmid:19776381", "pmid:19652143", "pmid:19649213", "pmid:19621255", "pmid:19607813", "pmid:19595623", "pmid:19586540", "pmid:19573560", "pmid:19573298", "pmid:21048629", "pmid:19484127", "pmid:19465745", "pmid:19455596", "pmid:19412185", "pmid:19270701", "pmid:19266143", "pmid:19250382", "pmid:19249009", "pmid:21415933", "pmid:19243073", "pmid:19210789", "pmid:19200948", "pmid:19200361", "pmid:19193881", "pmid:19133136", "pmid:19130884", "pmid:19064745", "pmid:19059613", "pmid:19014073", "pmid:19012814", "pmid:18986359", "pmid:18981372", "pmid:18931668", "pmid:18930824", "pmid:18854207", "pmid:18844975", "pmid:18754766", "pmid:18688140", "pmid:18640989", "pmid:18608348", "pmid:18512767", "pmid:18502655", "pmid:18481795", "pmid:18441666", "pmid:18430257", "pmid:18413470", "pmid:18403212", "pmid:18403126", "pmid:18398004", "pmid:18387780", "pmid:18380486", "pmid:18373410", "pmid:18349696", "pmid:18314311", "pmid:18307262", "pmid:18299573", "pmid:18298206", "pmid:18231868", "pmid:18204817", "pmid:18192679", "pmid:19378429", "pmid:18158109", "pmid:18157708", "pmid:18096682", "pmid:18091069", "pmid:18077673", "pmid:18068007", "pmid:18067195", "pmid:18057558", "pmid:18004675", "pmid:17952586", "pmid:17947312", "pmid:17726644", "pmid:17707354", "pmid:17687393", "pmid:17665004", "pmid:17660463", "pmid:17653603", "pmid:17653274", "pmid:17653262", "pmid:17627386", "pmid:17615168", "pmid:17610899", "pmid:17584778", "pmid:17569088", "pmid:17562929", "pmid:17557337", "pmid:17548158", "pmid:17516481", "pmid:17493035", "pmid:17478887", "pmid:17427191", "pmid:17409200", "pmid:17383831", "pmid:17363167", "pmid:17356014", "pmid:17352933", "pmid:17352932", "pmid:17352931", "pmid:17352930", "pmid:17307423", "pmid:17299512", "pmid:17293170", "pmid:17291464", "pmid:17183717", "pmid:17181545", "pmid:17174018", "pmid:17115386", "pmid:17096834", "pmid:17055784", "pmid:17040921", "pmid:17018562", "pmid:17018277", "pmid:16987871", "pmid:16981596", "pmid:16980414", "pmid:16973440", "pmid:16925544", "pmid:16918952", "pmid:16914060", "pmid:16858508", "pmid:16772714", "pmid:16769871", "pmid:16751280", "pmid:16690085", "pmid:16687439", "pmid:16626669", "pmid:16606912", "pmid:16600988", "pmid:16570300", "pmid:16564426", "pmid:16526033", "pmid:16515395", "pmid:16461334", "pmid:16434483", "pmid:16395126", "pmid:16372906", "pmid:16321399", "pmid:16261565", "pmid:16221531", "pmid:16159402", "pmid:16135087", "pmid:16125146", "pmid:16111888", "pmid:16096998", "pmid:16082690", "pmid:16040812", "pmid:16033418", "pmid:16007623", "pmid:15986189", "pmid:15954918", "pmid:15906159", "pmid:15850737", "pmid:15848234", "pmid:15843398", "pmid:15832309", "pmid:15811941", "pmid:15764008", "pmid:15758168", "pmid:15742215", "pmid:15722951", "pmid:15716522", "pmid:15704211", "pmid:15635668", "pmid:15531095", "pmid:15496672", "pmid:15496421", "pmid:15468075", "pmid:15372528", "pmid:15365789", "pmid:15361494", "pmid:15354395", "pmid:15345132", "pmid:15254954", "pmid:15229244", "pmid:15211622", "pmid:15201464", "pmid:15201455", "pmid:15193429", "pmid:15147313", "pmid:15094787", "pmid:15076735", "pmid:15040808", "pmid:15025718", "pmid:14999077", "pmid:14993615", "pmid:14713958", "pmid:14708029", "pmid:14688268", "pmid:14673581", "pmid:14625278", "pmid:14625025", "pmid:14581669", "pmid:14570710", "pmid:12966525", "pmid:12926013", "pmid:12895502", "pmid:12886033", "pmid:12850791", "pmid:12824708", "pmid:12805114", "pmid:12797118", "pmid:12791042", "pmid:12783847", "pmid:12782968", "pmid:12700167", "pmid:12599191", "pmid:12576549", "pmid:12554681", "pmid:12460551", "pmid:12438470", "pmid:12405543", "pmid:12393802", "pmid:12354780", "pmid:12226089", "pmid:12223581", "pmid:12221159", "pmid:12218657", "pmid:12208565", "pmid:12177311", "pmid:12123845", "pmid:12097805", "pmid:11979062", "pmid:11978769", "pmid:11920857", "pmid:11914418", "pmid:11807410", "pmid:11782460", "pmid:11761463", "pmid:11741397", "pmid:11704263", "pmid:11689489", "pmid:11607033", "pmid:11593450", "pmid:11592850", "pmid:11558794", "pmid:11552131", "pmid:11532992", "pmid:11524486", "pmid:11520890", "pmid:11494364", "pmid:11483245", "pmid:11386982", "pmid:11409734", "pmid:11406606", "pmid:11340249", "pmid:11331615", "pmid:11317220", "pmid:11279522", "pmid:11260214", "pmid:22034471", "pmid:11225602", "pmid:11172033", "pmid:11152661", "pmid:11106399", "pmid:11105061", "pmid:11063736", "pmid:11040449", "pmid:11030759", "pmid:11021756", "pmid:11013077", "pmid:11009201", "pmid:10980573", "pmid:10964480", "pmid:10880387", "pmid:10860124", "pmid:10814708", "pmid:10794362", "pmid:10780268", "pmid:10770860", "pmid:10766906", "pmid:10717003", "pmid:10712225", "pmid:10677504", "pmid:10666223", "pmid:10631644", "pmid:10611371", "pmid:10581038", "pmid:10574348", "pmid:10564878", "pmid:10533044", "pmid:10522893", "pmid:10502848", "pmid:10502825", "pmid:10489045", "pmid:10486315", "pmid:10478585", "pmid:10441327", "pmid:10441201", "pmid:10434306", "pmid:10434303", "pmid:10434297", "pmid:10434295", "pmid:10405095", "pmid:10398087", "pmid:10334474", "pmid:10333377", "pmid:10206229", "pmid:10197541", "pmid:10196370", "pmid:10196365", "pmid:10098889", "pmid:10091627", "pmid:10090478", "pmid:10082833", "pmid:10052816", "pmid:10051007", "pmid:10023115", "pmid:9949443", "pmid:9949199", "pmid:9932964", "pmid:9887339", "pmid:9818876", "pmid:9806905", "pmid:9792871", "pmid:9768849", "pmid:9684917", "pmid:9674805", "pmid:9666478", "pmid:9647305", "pmid:9626775", "pmid:9611675", "pmid:9527890", "pmid:9536082", "pmid:9536081", "pmid:9536080", "pmid:9595987", "pmid:9577843", "pmid:9514585", "pmid:9514579", "pmid:9361024", "pmid:9485067", "pmid:9462548", "pmid:9415475", "pmid:23604331", "pmid:9399688", "pmid:9398841", "pmid:9388503", "pmid:9339688", "pmid:9299885", "pmid:9299309", "pmid:9267034", "pmid:9267033", "pmid:9152833", "pmid:9150744", "pmid:9150168", "pmid:9108071", "pmid:9106534", "pmid:9143014", "pmid:10462592", "pmid:9020849", "pmid:9401013", "pmid:9219003", "pmid:9002673", "pmid:9384710", "pmid:8931689", "pmid:8898202", "pmid:8855141", "pmid:8912795", "pmid:8751857", "pmid:8659522", "pmid:8735227", "pmid:8643525", "pmid:8678115", "pmid:8606810", "pmid:8714530", "pmid:8614526", "pmid:8985734", "pmid:8954302", "pmid:8840396", "pmid:8766138", "pmid:8572659", "pmid:8557266", "pmid:7477379", "pmid:8804464", "pmid:7576661", "pmid:7568002", "pmid:8544189", "pmid:8541834", "pmid:7668287", "pmid:7668260", "pmid:7639626", "pmid:7484060", "pmid:7480359", "pmid:7774020", "pmid:7675777", "pmid:7898693", "pmid:7868117", "pmid:7634532", "pmid:7757069", "pmid:9173995", "pmid:7881406", "pmid:7969980", "pmid:7959696", "pmid:7853373", "pmid:7915776", "pmid:7815437", "pmid:8208412", "pmid:8178825", "pmid:8064815", "pmid:7909529", "pmid:8162059", "pmid:8162055", "pmid:8162053", "pmid:8044653", "pmid:7888133", "pmid:7865169", "pmid:8133511", "pmid:8133510", "pmid:8133508", "pmid:8133495", "pmid:8111374", "pmid:8087617", "pmid:8105214", "pmid:8268906", "pmid:8252042", "pmid:8242074", "pmid:8401589", "pmid:8401588", "pmid:8401587", "pmid:2521771", "pmid:2971929", "pmid:3131233"]
},
{
"id": "HDL2_JPH3",
@@ -2982,8 +2982,8 @@
"webstr_hg19": ["STR_1116660"],
"locus_tags": ["somatic_instability", "motif_affects_onset", "motif_affects_penetrance", "motif_affects_severity"],
"disease_tags": ["familial_adult_myoclonic_epilepsy"],
- "references": ["pmid:19616813", "omim:613608", "pmid:40788430", "genereviews:NBK535148", "pmid:31664039", "pmid:38876750", "pmid:39349043"],
- "additional_literature": ["pmid:41268177", "pmid:41219789", "pmid:40417743", "pmid:40200849", "pmid:33040085"]
+ "references": ["pmid:19616813", "omim:613608", "pmid:40788430", "genereviews:NBK535148", "pmid:31664039", "pmid:41268177", "pmid:38876750", "pmid:39349043"],
+ "additional_literature": ["pmid:41219789", "pmid:40417743", "pmid:40200849", "pmid:33040085"]
},
{
"id": "CHNG3_MIR7-2",
@@ -3116,8 +3116,8 @@
"webstr_hg19": [],
"locus_tags": [],
"disease_tags": [],
- "references": ["pmid:41000883", "genereviews:NBK153723", "genereviews:NBK535148", "pmid:23396133", "pmid:39781475", "doi:10.1101/2025.03.31.646505", "mondo:0020726"],
- "additional_literature": ["pmid:41961547", "pmid:41832605", "pmid:41345522", "pmid:40244446", "pmid:39848530", "pmid:39576755", "pmid:39325540", "pmid:39314239", "pmid:38605207", "pmid:37547453", "pmid:37456840", "pmid:37316299", "pmid:35982790", "pmid:35497811", "pmid:34641504", "pmid:34452200", "pmid:33672244", "pmid:33001366", "pmid:32451462", "pmid:32293552", "pmid:31213370", "pmid:30593830", "pmid:29520014", "pmid:29328069", "pmid:29217307", "pmid:29156055", "pmid:29052568", "pmid:28581490", "pmid:28407289", "pmid:27957769", "pmid:27036738", "pmid:27367740", "pmid:27340743", "pmid:27157321", "pmid:26943180", "pmid:26838233", "pmid:26693201", "pmid:26692014", "pmid:26498650", "pmid:25753030", "pmid:24718884", "pmid:24509297", "pmid:24416403", "pmid:24246952", "pmid:24233342", "pmid:23778023", "pmid:23770070", "pmid:23652307", "pmid:23317217", "pmid:23259747", "pmid:22970023", "pmid:21998660", "pmid:21385452", "pmid:20876819", "pmid:20562098", "pmid:20470225", "pmid:21637607", "pmid:19811637", "pmid:19625949", "pmid:19534821", "pmid:18619437", "pmid:18094420", "pmid:18021186", "pmid:17974963", "pmid:17694298", "pmid:17581677", "pmid:17203187", "pmid:17050588", "pmid:16711252", "pmid:16631167", "pmid:16302687", "pmid:16101182", "pmid:15991935", "pmid:15944787", "pmid:15814824", "pmid:15729696", "pmid:15604091", "pmid:15387710", "pmid:15115750", "pmid:15041735", "pmid:14871854", "pmid:14707484", "pmid:12747745", "pmid:12646731", "pmid:12626424", "pmid:12090474", "pmid:11923240", "pmid:11445551", "pmid:11391628", "pmid:11358826", "pmid:11295060", "pmid:11169964", "pmid:10797294", "pmid:10741704", "pmid:10653872", "pmid:10652432", "pmid:10541345", "pmid:10430099", "pmid:10389761", "pmid:10383817", "pmid:10235488", "pmid:10206297", "pmid:10052816", "pmid:10024673", "pmid:10022471", "pmid:9935162", "pmid:9823312", "pmid:9755875", "pmid:9727561", "pmid:9690452", "pmid:9591045", "pmid:9579805", "pmid:9575675", "pmid:9551361", "pmid:9427605", "pmid:9419405", "pmid:8967520", "pmid:8643693", "pmid:7594478", "pmid:8579785", "pmid:8567787", "pmid:8519447", "pmid:7628867", "pmid:7816840", "pmid:7946402", "pmid:7514493", "pmid:7690213", "pmid:7685318"]
+ "references": ["pmid:41000883", "genereviews:NBK153723", "genereviews:NBK535148", "pmid:23396133", "mondo:0020726"],
+ "additional_literature": ["pmid:42175825", "pmid:41961547", "pmid:41832605", "pmid:41345522", "pmid:40244446", "pmid:39848530", "pmid:39781475", "pmid:39576755", "pmid:39325540", "pmid:39314239", "pmid:38605207", "pmid:37547453", "pmid:37456840", "pmid:37316299", "pmid:35982790", "pmid:35497811", "pmid:34641504", "pmid:34452200", "pmid:33672244", "pmid:33001366", "pmid:32451462", "pmid:32293552", "pmid:31213370", "pmid:30593830", "pmid:29520014", "pmid:29328069", "pmid:29217307", "pmid:29156055", "pmid:29052568", "pmid:28581490", "pmid:28407289", "pmid:27957769", "pmid:27036738", "pmid:27367740", "pmid:27340743", "pmid:27157321", "pmid:26943180", "pmid:26838233", "pmid:26693201", "pmid:26692014", "pmid:26498650", "pmid:25753030", "pmid:24718884", "pmid:24509297", "pmid:24416403", "pmid:24246952", "pmid:24233342", "pmid:23778023", "pmid:23770070", "pmid:23652307", "pmid:23317217", "pmid:23259747", "pmid:22970023", "pmid:21998660", "pmid:21385452", "pmid:20876819", "pmid:20562098", "pmid:20470225", "pmid:21637607", "pmid:19811637", "pmid:19625949", "pmid:19534821", "pmid:18619437", "pmid:18094420", "pmid:18021186", "pmid:17974963", "pmid:17694298", "pmid:17581677", "pmid:17203187", "pmid:17050588", "pmid:16711252", "pmid:16631167", "pmid:16302687", "pmid:16101182", "pmid:15991935", "pmid:15944787", "pmid:15814824", "pmid:15729696", "pmid:15604091", "pmid:15387710", "pmid:15115750", "pmid:15041735", "pmid:14871854", "pmid:14707484", "pmid:12747745", "pmid:12646731", "pmid:12626424", "pmid:12090474", "pmid:11923240", "pmid:11445551", "pmid:11391628", "pmid:11358826", "pmid:11295060", "pmid:11169964", "pmid:10797294", "pmid:10741704", "pmid:10653872", "pmid:10652432", "pmid:10541345", "pmid:10430099", "pmid:10389761", "pmid:10383817", "pmid:10235488", "pmid:10206297", "pmid:10052816", "pmid:10024673", "pmid:10022471", "pmid:9935162", "pmid:9823312", "pmid:9755875", "pmid:9727561", "pmid:9690452", "pmid:9591045", "pmid:9579805", "pmid:9575675", "pmid:9551361", "pmid:9427605", "pmid:9419405", "pmid:8967520", "pmid:8643693", "pmid:7594478", "pmid:8579785", "pmid:8567787", "pmid:8519447", "pmid:7628867", "pmid:7816840", "pmid:7946402", "pmid:7514493", "pmid:7690213", "pmid:7685318"]
},
{
"id": "NME_NAXE",
@@ -3328,7 +3328,7 @@
"locus_tags": ["somatic_instability", "length_affects_onset", "length_affects_severity"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["pmid:25101480", "pmid:37810464", "pmid:37332636", "omim:614153", "pmid:37051597", "pmid:28761930", "pmid:21683323", "mondo:0013594"],
- "additional_literature": ["pmid:42038259", "pmid:41337098", "pmid:41074692", "pmid:40898875", "pmid:40765612", "pmid:40488180", "pmid:40015643", "pmid:40004498", "pmid:38961870", "pmid:38934198", "pmid:38811808", "pmid:38667292", "pmid:38227102", "pmid:36599645", "pmid:36572080", "pmid:36530930", "pmid:35599735", "pmid:35077744", "pmid:34179866", "pmid:33705846", "pmid:32989102", "pmid:32407596", "pmid:32375063", "pmid:32375043", "pmid:32270466", "pmid:31737797", "pmid:30610877", "pmid:30109267", "pmid:29316893", "pmid:29281254", "pmid:28918022", "pmid:27123487", "pmid:26661328", "pmid:25476002", "pmid:24985895", "pmid:24269018", "pmid:22744658", "pmid:22492559"]
+ "additional_literature": ["pmid:42387149", "pmid:42038259", "pmid:41337098", "pmid:41074692", "pmid:40898875", "pmid:40765612", "pmid:40488180", "pmid:40015643", "pmid:40004498", "pmid:38961870", "pmid:38934198", "pmid:38811808", "pmid:38667292", "pmid:38227102", "pmid:36599645", "pmid:36572080", "pmid:36530930", "pmid:35599735", "pmid:35077744", "pmid:34179866", "pmid:33705846", "pmid:32989102", "pmid:32407596", "pmid:32375063", "pmid:32375043", "pmid:32270466", "pmid:31737797", "pmid:30610877", "pmid:30109267", "pmid:29316893", "pmid:29281254", "pmid:28918022", "pmid:27123487", "pmid:26661328", "pmid:25476002", "pmid:24985895", "pmid:24269018", "pmid:22744658", "pmid:22492559"]
},
{
"id": "NIID_NOTCH2NLC",
@@ -3394,8 +3394,8 @@
"webstr_hg19": [],
"locus_tags": ["somatic_instability", "paternal_expansion", "length_affects_onset", "length_affects_phenotype", "motif_affects_onset", "motif_affects_phenotype"],
"disease_tags": ["phenotypic_spectrum"],
- "references": ["omim:603472", "pmid:37090934", "pmid:37305750", "pmid:36169768", "pmid:38467784", "pmid:42058219", "doi:10.1186/s12964-025-02079-1", "pmid:41539185", "pmid:41942455", "genereviews:NBK535148", "pmid:39055960", "pmid:39496005", "pmid:31178126", "pmid:38377026", "pmid:34718964", "pmid:35245110", "pmid:37371433", "pmid:38876750", "pmid:31332380", "mondo:0011327", "pmid:41929501", "pmid:42005169"],
- "additional_literature": ["pmid:42058219", "pmid:42033810", "pmid:42021030", "pmid:42015293", "pmid:42005169", "pmid:41964975", "pmid:41942455", "pmid:41929501", "pmid:41888971", "pmid:41882342", "pmid:41862851", "pmid:41792844", "pmid:41762523", "pmid:41756172", "pmid:41731582", "pmid:41688968", "pmid:41634634", "pmid:41556371", "pmid:41526374", "pmid:41235412", "pmid:41154122", "pmid:41074692", "pmid:40934004", "pmid:40879637", "pmid:40765612", "pmid:40708231", "pmid:40645757", "pmid:40635536", "pmid:40609325", "pmid:40517194", "pmid:40515658", "pmid:40514451", "pmid:40267536", "pmid:40084170", "pmid:39936620", "pmid:39920690", "pmid:39609868", "pmid:39529621", "pmid:39505310", "pmid:39492694", "pmid:39418922", "pmid:39167540", "pmid:39078482", "pmid:38779172", "pmid:38667292", "pmid:38579412", "pmid:38477063", "pmid:38288273", "pmid:38145851", "pmid:37975799", "pmid:37923380", "pmid:37864208", "pmid:37823700", "pmid:37644522", "pmid:37365282", "pmid:37271829", "pmid:37237429", "pmid:37184590", "pmid:37131242", "pmid:37001413", "pmid:36948577", "pmid:36942588", "pmid:36825461", "pmid:36823368", "pmid:36809423", "pmid:36715780", "pmid:36672065", "pmid:36621630", "pmid:36588885", "pmid:36570826", "pmid:36545534", "pmid:36483830", "pmid:36458450", "pmid:36417528", "pmid:36263606", "pmid:36216675", "pmid:36207023", "pmid:36191230", "pmid:36172483", "pmid:36150977", "pmid:36086903", "pmid:36061987", "pmid:36041634", "pmid:36033605", "pmid:35974122", "pmid:35866887", "pmid:35857137", "pmid:35838850", "pmid:35788208", "pmid:35772299", "pmid:35700120", "pmid:35419641", "pmid:35411397", "pmid:35402653", "pmid:35366689", "pmid:35314910", "pmid:35297556", "pmid:35180462", "pmid:35152460", "pmid:35148830", "pmid:35147270", "pmid:34927285", "pmid:34797461", "pmid:34774111", "pmid:34750918", "pmid:34694469", "pmid:34675106", "pmid:34641814", "pmid:34392981", "pmid:34306035", "pmid:34243731", "pmid:34054431", "pmid:34017298", "pmid:33943039", "pmid:33887199", "pmid:33871559", "pmid:33871549", "pmid:33766934", "pmid:33693509", "pmid:33679585", "pmid:33626493", "pmid:33625684", "pmid:33388663", "pmid:33377220", "pmid:33377207", "pmid:33239111", "pmid:33201994", "pmid:33201988", "pmid:33146692", "pmid:33146671", "pmid:33026126", "pmid:33016348", "pmid:32989102", "pmid:32931575", "pmid:32852534", "pmid:32827029", "pmid:32817896", "pmid:32777174", "pmid:32768149", "pmid:32602554", "pmid:32535679", "pmid:32516806", "pmid:32495371", "pmid:32449905", "pmid:32268889", "pmid:32250060", "pmid:32081467", "pmid:32039647", "pmid:31886491", "pmid:31819945", "pmid:31433517", "pmid:31413119", "pmid:31332381"]
+ "references": ["omim:603472", "pmid:37090934", "pmid:37305750", "pmid:36169768", "pmid:38467784", "pmid:42058219", "pmid:39920690", "pmid:41539185", "pmid:41942455", "genereviews:NBK535148", "pmid:39055960", "pmid:39496005", "pmid:31178126", "pmid:38377026", "pmid:34718964", "pmid:35245110", "pmid:37371433", "pmid:38876750", "pmid:31332380", "mondo:0011327", "pmid:41929501", "pmid:42005169", "pmid:42001002"],
+ "additional_literature": ["pmid:42245955", "pmid:42177789", "pmid:42033810", "pmid:42021030", "pmid:42015293", "pmid:41964975", "pmid:41929501", "pmid:41888971", "pmid:41882342", "pmid:41792844", "pmid:41762523", "pmid:41756172", "pmid:41731582", "pmid:41688968", "pmid:41634634", "pmid:41556371", "pmid:41526374", "pmid:41235412", "pmid:41154122", "pmid:41074692", "pmid:40934004", "pmid:40879637", "pmid:40765612", "pmid:40708231", "pmid:40645757", "pmid:40635536", "pmid:40609325", "pmid:40517194", "pmid:40515658", "pmid:40514451", "pmid:40267536", "pmid:40084170", "pmid:39936620", "pmid:39609868", "pmid:39529621", "pmid:39505310", "pmid:39492694", "pmid:39418922", "pmid:39167540", "pmid:39078482", "pmid:38779172", "pmid:38667292", "pmid:38579412", "pmid:38477063", "pmid:38288273", "pmid:38145851", "pmid:37975799", "pmid:37923380", "pmid:37864208", "pmid:37823700", "pmid:37644522", "pmid:37365282", "pmid:37271829", "pmid:37237429", "pmid:37184590", "pmid:37131242", "pmid:37001413", "pmid:36948577", "pmid:36942588", "pmid:36825461", "pmid:36823368", "pmid:36809423", "pmid:36715780", "pmid:36672065", "pmid:36621630", "pmid:36588885", "pmid:36570826", "pmid:36545534", "pmid:36483830", "pmid:36458450", "pmid:36417528", "pmid:36263606", "pmid:36216675", "pmid:36207023", "pmid:36191230", "pmid:36172483", "pmid:36150977", "pmid:36086903", "pmid:36061987", "pmid:36041634", "pmid:36033605", "pmid:35974122", "pmid:35866887", "pmid:35857137", "pmid:35838850", "pmid:35788208", "pmid:35772299", "pmid:35700120", "pmid:35419641", "pmid:35411397", "pmid:35402653", "pmid:35366689", "pmid:35314910", "pmid:35297556", "pmid:35180462", "pmid:35152460", "pmid:35148830", "pmid:35147270", "pmid:34927285", "pmid:34797461", "pmid:34774111", "pmid:34750918", "pmid:34694469", "pmid:34675106", "pmid:34641814", "pmid:34392981", "pmid:34306035", "pmid:34243731", "pmid:34054431", "pmid:34017298", "pmid:33943039", "pmid:33887199", "pmid:33871559", "pmid:33871549", "pmid:33766934", "pmid:33693509", "pmid:33679585", "pmid:33626493", "pmid:33625684", "pmid:33388663", "pmid:33377220", "pmid:33377207", "pmid:33239111", "pmid:33201994", "pmid:33201988", "pmid:33146692", "pmid:33146671", "pmid:33026126", "pmid:33016348", "pmid:32989102", "pmid:32931575", "pmid:32852534", "pmid:32827029", "pmid:32817896", "pmid:32777174", "pmid:32768149", "pmid:32602554", "pmid:32535679", "pmid:32516806", "pmid:32495371", "pmid:32449905", "pmid:32268889", "pmid:32250060", "pmid:32081467", "pmid:32039647", "pmid:31886491", "pmid:31819945", "pmid:31433517", "pmid:31413119", "pmid:31332381"]
},
{
"id": "OPML1_NUTM2B-AS1",
@@ -3528,8 +3528,8 @@
"webstr_hg19": ["Expansion_OPMD/PAPBN1"],
"locus_tags": ["length_affects_onset", "length_affects_severity"],
"disease_tags": [],
- "references": ["pmid:37519616", "pmid:35112761", "genereviews:NBK1126", "pmid:28011929", "pmid:9462747", "pmid:39349043", "pmid:29100084", "omim:164300", "pmid:38876750"],
- "additional_literature": ["pmid:42196324", "pmid:42157275", "pmid:41764774", "pmid:41676387", "pmid:41587185", "pmid:40594369", "pmid:40552959", "pmid:40220918", "pmid:39113268", "pmid:38165364", "pmid:37698929", "pmid:37559347", "pmid:36790141", "pmid:35859342", "pmid:34927285", "pmid:34225694", "pmid:34047774", "pmid:31294444", "pmid:30455479", "pmid:28361972", "pmid:27980005", "pmid:26428746", "pmid:23793615", "pmid:23399899", "pmid:22519734", "pmid:21742497", "pmid:21647273", "pmid:21602480", "pmid:21316245", "pmid:19641605", "pmid:19101703", "pmid:18481858", "pmid:18367172", "pmid:18343218", "pmid:17138075", "pmid:16648376", "pmid:16642034", "pmid:16481821", "pmid:16378590", "pmid:16239242", "pmid:15811916", "pmid:15755680", "pmid:15725589", "pmid:15645184", "pmid:14627730", "pmid:12673802", "pmid:11712939", "pmid:11304042", "pmid:11222452", "pmid:11150975", "pmid:11087766", "pmid:11003790", "pmid:10734263", "pmid:10680791", "pmid:9084936"]
+ "references": ["pmid:37519616", "pmid:35112761", "genereviews:NBK1126", "pmid:28011929", "pmid:9462747", "pmid:39349043", "pmid:29100084", "pmid:42157275", "omim:164300", "pmid:38876750"],
+ "additional_literature": ["pmid:42387033", "pmid:42196324", "pmid:41764774", "pmid:41676387", "pmid:41587185", "pmid:40594369", "pmid:40552959", "pmid:40220918", "pmid:39113268", "pmid:38165364", "pmid:37698929", "pmid:37559347", "pmid:36790141", "pmid:35859342", "pmid:34927285", "pmid:34225694", "pmid:34047774", "pmid:31294444", "pmid:30455479", "pmid:28361972", "pmid:27980005", "pmid:26428746", "pmid:23793615", "pmid:23399899", "pmid:22519734", "pmid:21742497", "pmid:21647273", "pmid:21602480", "pmid:21316245", "pmid:19641605", "pmid:19101703", "pmid:18481858", "pmid:18367172", "pmid:18343218", "pmid:17138075", "pmid:16648376", "pmid:16642034", "pmid:16481821", "pmid:16378590", "pmid:16239242", "pmid:15811916", "pmid:15755680", "pmid:15725589", "pmid:15645184", "pmid:14627730", "pmid:12673802", "pmid:11712939", "pmid:11304042", "pmid:11222452", "pmid:11150975", "pmid:11087766", "pmid:11003790", "pmid:10734263", "pmid:10680791", "pmid:9084936"]
},
{
"id": "CCHS_PHOX2B",
@@ -3596,7 +3596,7 @@
"locus_tags": ["length_affects_onset", "length_affects_severity"],
"disease_tags": [],
"references": ["genereviews:NBK1427", "pmid:15121777", "pmid:16873766", "pmid:38467784", "pmid:15888479", "pmid:12640453", "mondo:0800026", "pmid:41531556"],
- "additional_literature": ["pmid:41420984", "pmid:41188450", "pmid:38467313", "pmid:38454954", "pmid:38431667", "pmid:38001308", "pmid:36394266", "pmid:35421844", "pmid:34626313", "pmid:34012823", "pmid:33958749", "pmid:33855005", "pmid:33047879", "pmid:32822965", "pmid:31950261", "pmid:30786110", "pmid:30672101", "pmid:30227298", "pmid:29058474", "pmid:28992836", "pmid:27485184", "pmid:27129232", "pmid:26378991", "pmid:26375764", "pmid:26063465", "pmid:26011159", "pmid:25975378", "pmid:25085640", "pmid:24442913", "pmid:24135798", "pmid:23460545", "pmid:23460419", "pmid:23103552", "pmid:23045564", "pmid:22922260", "pmid:22829249", "pmid:22821709", "pmid:22437207", "pmid:22278185", "pmid:22125732", "pmid:21373876", "pmid:20236122", "pmid:19881470", "pmid:19608868", "pmid:18798833", "pmid:18157832", "pmid:17928950", "pmid:17909190", "pmid:17045833", "pmid:16888290", "pmid:16258163", "pmid:16249188"]
+ "additional_literature": ["pmid:42344868", "pmid:41420984", "pmid:41188450", "pmid:38467313", "pmid:38454954", "pmid:38431667", "pmid:38001308", "pmid:36394266", "pmid:35421844", "pmid:34626313", "pmid:34012823", "pmid:33958749", "pmid:33855005", "pmid:33047879", "pmid:32822965", "pmid:31950261", "pmid:30786110", "pmid:30672101", "pmid:30227298", "pmid:29058474", "pmid:28992836", "pmid:27485184", "pmid:27129232", "pmid:26378991", "pmid:26375764", "pmid:26063465", "pmid:26011159", "pmid:25975378", "pmid:25085640", "pmid:24442913", "pmid:24135798", "pmid:23460545", "pmid:23460419", "pmid:23103552", "pmid:23045564", "pmid:22922260", "pmid:22829249", "pmid:22821709", "pmid:22437207", "pmid:22278185", "pmid:22125732", "pmid:21373876", "pmid:20236122", "pmid:19881470", "pmid:19608868", "pmid:18798833", "pmid:18157832", "pmid:17928950", "pmid:17909190", "pmid:17045833", "pmid:16888290", "pmid:16258163", "pmid:16249188"]
},
{
"id": "MRUPAV_PLIN4",
@@ -3811,8 +3811,8 @@
"webstr_hg19": ["Expansion_SCA12/PPP2R2B"],
"locus_tags": ["length_affects_penetrance"],
"disease_tags": ["spinocerebellar_ataxia"],
- "references": ["omim:604326", "pmid:38467784", "pmid:37906407", "pmid:11198281", "pmid:34711523", "pmid:10581021", "mondo:0011439"],
- "additional_literature": ["pmid:42105155", "pmid:42038259", "pmid:41788301", "pmid:41762523", "pmid:41691974", "pmid:41612618", "pmid:41074692", "pmid:40488180", "pmid:39565297", "pmid:39469072", "pmid:38961870", "pmid:38798069", "pmid:38711441", "pmid:38227102", "pmid:38058854", "pmid:35531119", "pmid:33502644", "pmid:32675418", "pmid:32124191", "pmid:30130680", "pmid:29057148", "pmid:27864267", "pmid:26340331", "pmid:26077168", "pmid:25634432", "pmid:25586539", "pmid:25274186", "pmid:24269018", "pmid:21029765", "pmid:20937954", "pmid:20533062", "pmid:18940801", "pmid:18484086", "pmid:17961920", "pmid:16054804", "pmid:11171892"]
+ "references": ["omim:604326", "pmid:42105155", "pmid:38467784", "pmid:37906407", "pmid:11198281", "pmid:34711523", "pmid:10581021", "mondo:0011439"],
+ "additional_literature": ["pmid:42038259", "pmid:41788301", "pmid:41762523", "pmid:41691974", "pmid:41074692", "pmid:40488180", "pmid:39565297", "pmid:39469072", "pmid:38961870", "pmid:38798069", "pmid:38711441", "pmid:38227102", "pmid:38058854", "pmid:35531119", "pmid:33502644", "pmid:32675418", "pmid:32124191", "pmid:30130680", "pmid:29057148", "pmid:27864267", "pmid:26340331", "pmid:26077168", "pmid:25634432", "pmid:25586539", "pmid:25274186", "pmid:24269018", "pmid:21029765", "pmid:20937954", "pmid:20533062", "pmid:18940801", "pmid:18484086", "pmid:17961920", "pmid:16054804", "pmid:11171892"]
},
{
"id": "HSAN-VIII_PRDM12",
@@ -3956,7 +3956,7 @@
"locus_tags": ["length_affects_phenotype"],
"disease_tags": [],
"references": ["genereviews:NBK1229", "pmid:37379724", "pmid:38467784", "pmid:36977684", "genereviews:NBK535148", "pmid:29939637", "pmid:1683708", "doi:https://doi.org/10.1016/B978-0-444-63945-5.00013-1"],
- "additional_literature": ["pmid:41890154", "pmid:41009775", "pmid:40803449", "pmid:39256877", "pmid:35926480", "pmid:35903139", "pmid:35752680", "pmid:35585119", "pmid:33131137", "pmid:31795947", "pmid:31127772", "pmid:30777654", "pmid:30530974", "pmid:29966485", "pmid:28003435", "pmid:27400454", "pmid:25239657", "pmid:23998997", "pmid:21686668", "pmid:19092329", "pmid:18397498", "pmid:18366654", "pmid:17709704", "pmid:16858508", "pmid:14729275", "pmid:12805114", "pmid:12451210", "pmid:11593450", "pmid:10611945", "pmid:9710033", "pmid:9565627", "pmid:8030952"]
+ "additional_literature": ["pmid:42021413", "pmid:41890154", "pmid:41009775", "pmid:40803449", "pmid:39256877", "pmid:35926480", "pmid:35903139", "pmid:35752680", "pmid:35585119", "pmid:33131137", "pmid:31795947", "pmid:31127772", "pmid:30777654", "pmid:30530974", "pmid:29966485", "pmid:28003435", "pmid:27400454", "pmid:25239657", "pmid:23998997", "pmid:21686668", "pmid:19092329", "pmid:18397498", "pmid:18366654", "pmid:17709704", "pmid:16858508", "pmid:14729275", "pmid:12805114", "pmid:12451210", "pmid:11593450", "pmid:10611945", "pmid:9710033", "pmid:9565627", "pmid:8030952"]
},
{
"id": "FAME8_RAI1",
@@ -4187,7 +4187,7 @@
"locus_tags": ["motif_affects_penetrance", "length_affects_onset", "length_affects_severity"],
"disease_tags": ["ataxia", "phenotypic_spectrum"],
"references": ["genereviews:NBK564656", "pmid:38467784", "pmid:32851396", "pmid:38627134", "pmid:37450567", "doi:10.1136/jnnp-2024-ABN.259", "pmid:39833204", "pmid:39811557", "pmid:41964406", "pmid:39230846", "pmid:38876750", "pmid:31230722", "pmid:39349043", "pmid:41177915"],
- "additional_literature": ["pmid:42178418", "pmid:42096001", "pmid:42094143", "pmid:42038259", "pmid:41840142", "pmid:41780084", "pmid:41689662", "pmid:41614301", "pmid:41592538", "pmid:41532091", "pmid:41426430", "pmid:41327893", "pmid:41322202", "pmid:41278766", "pmid:41145152", "pmid:41118032", "pmid:41084404", "pmid:41074692", "pmid:41055766", "pmid:40898875", "pmid:40894141", "pmid:40802152", "pmid:40765612", "pmid:40637932", "pmid:40595562", "pmid:40594369", "pmid:40488180", "pmid:40481300", "pmid:40461673", "pmid:40417743", "pmid:40313272", "pmid:40273470", "pmid:40221271", "pmid:40211677", "pmid:40204545", "pmid:40141365", "pmid:40113266", "pmid:40007153", "pmid:39812846", "pmid:39721397", "pmid:39571249", "pmid:39543176", "pmid:39507594", "pmid:39416949", "pmid:39406499", "pmid:39342186", "pmid:39286915", "pmid:39231235", "pmid:39219417", "pmid:39152783", "pmid:39076534", "pmid:38978724", "pmid:38916676", "pmid:38789445", "pmid:38579416", "pmid:38487929", "pmid:38447794", "pmid:38381906", "pmid:38381176", "pmid:38324175", "pmid:38311638", "pmid:38306376", "pmid:38266156", "pmid:38193360", "pmid:38168171", "pmid:38145611", "pmid:38062616", "pmid:38054570", "pmid:37917284", "pmid:37892228", "pmid:37853169", "pmid:37747091", "pmid:37660923", "pmid:37578187", "pmid:37546920", "pmid:37476326", "pmid:37460231", "pmid:37414537", "pmid:37399286", "pmid:36805468", "pmid:36753892", "pmid:36705320", "pmid:36381255", "pmid:36289003", "pmid:36250766", "pmid:36227727", "pmid:36214978", "pmid:36177974", "pmid:36088850", "pmid:36061987", "pmid:36046423", "pmid:36034314", "pmid:35884855", "pmid:35883251", "pmid:35864213", "pmid:35633373", "pmid:35585435", "pmid:35502508", "pmid:35355059", "pmid:35306791", "pmid:35253317", "pmid:38835435", "pmid:35013364", "pmid:34968871", "pmid:34927205", "pmid:34600502", "pmid:34537679", "pmid:34101140", "pmid:33969391", "pmid:33940977", "pmid:33884451", "pmid:33807868", "pmid:33745133", "pmid:33666721", "pmid:33495376", "pmid:33188504", "pmid:33103729", "pmid:33068477", "pmid:33068476", "pmid:32949124", "pmid:32939785", "pmid:32910249", "pmid:32873692", "pmid:32732387", "pmid:32694621", "pmid:32682126", "pmid:32582864", "pmid:32151945", "pmid:32066831", "pmid:32040566", "pmid:31824583", "pmid:31817852", "pmid:31370354", "pmid:30926972", "pmid:25648260", "pmid:25007187", "pmid:24686188", "pmid:22086855", "pmid:15457444", "pmid:12556494"]
+ "additional_literature": ["pmid:42371259", "pmid:42178418", "pmid:42096001", "pmid:42094143", "pmid:42038259", "pmid:41840142", "pmid:41780084", "pmid:41689662", "pmid:41614301", "pmid:41592538", "pmid:41532091", "pmid:41426430", "pmid:41327893", "pmid:41322202", "pmid:41278766", "pmid:41145152", "pmid:41118032", "pmid:41084404", "pmid:41074692", "pmid:41055766", "pmid:40898875", "pmid:40894141", "pmid:40802152", "pmid:40765612", "pmid:40637932", "pmid:40595562", "pmid:40594369", "pmid:40488180", "pmid:40481300", "pmid:40461673", "pmid:40417743", "pmid:40313272", "pmid:40273470", "pmid:40221271", "pmid:40211677", "pmid:40204545", "pmid:40141365", "pmid:40113266", "pmid:40007153", "pmid:39812846", "pmid:39721397", "pmid:39571249", "pmid:39543176", "pmid:39507594", "pmid:39416949", "pmid:39406499", "pmid:39342186", "pmid:39286915", "pmid:39231235", "pmid:39219417", "pmid:39152783", "pmid:39076534", "pmid:38978724", "pmid:38916676", "pmid:38789445", "pmid:38579416", "pmid:38487929", "pmid:38447794", "pmid:38381906", "pmid:38381176", "pmid:38324175", "pmid:38311638", "pmid:38306376", "pmid:38266156", "pmid:38193360", "pmid:38168171", "pmid:38145611", "pmid:38062616", "pmid:38054570", "pmid:37917284", "pmid:37892228", "pmid:37853169", "pmid:37747091", "pmid:37660923", "pmid:37578187", "pmid:37546920", "pmid:37476326", "pmid:37460231", "pmid:37414537", "pmid:37399286", "pmid:36805468", "pmid:36753892", "pmid:36705320", "pmid:36381255", "pmid:36289003", "pmid:36250766", "pmid:36227727", "pmid:36214978", "pmid:36177974", "pmid:36088850", "pmid:36061987", "pmid:36046423", "pmid:36034314", "pmid:35884855", "pmid:35883251", "pmid:35864213", "pmid:35633373", "pmid:35585435", "pmid:35502508", "pmid:35355059", "pmid:35306791", "pmid:35253317", "pmid:38835435", "pmid:35013364", "pmid:34968871", "pmid:34927205", "pmid:34600502", "pmid:34537679", "pmid:34101140", "pmid:33969391", "pmid:33940977", "pmid:33884451", "pmid:33807868", "pmid:33745133", "pmid:33666721", "pmid:33495376", "pmid:33188504", "pmid:33103729", "pmid:33068477", "pmid:33068476", "pmid:32949124", "pmid:32939785", "pmid:32910249", "pmid:32873692", "pmid:32732387", "pmid:32694621", "pmid:32682126", "pmid:32582864", "pmid:32151945", "pmid:32066831", "pmid:32040566", "pmid:31824583", "pmid:31817852", "pmid:31370354", "pmid:30926972", "pmid:25648260", "pmid:25007187", "pmid:24686188", "pmid:22086855", "pmid:15457444", "pmid:12556494"]
},
{
"id": "OPDM4_RILPL1",
@@ -4321,7 +4321,7 @@
"locus_tags": [],
"disease_tags": [],
"references": ["genereviews:NBK1513", "pmid:26220009", "gnomad:RUNX2", "pmid:20560987", "pmid:9182765", "orphanet:1452", "genereviews:NBK535148", "mondo:0007340"],
- "additional_literature": ["pmid:41468806", "pmid:40585427", "pmid:37365568", "pmid:37202645", "pmid:32386547", "pmid:24497578", "pmid:22912713", "pmid:21887706", "pmid:19264154"]
+ "additional_literature": ["pmid:42255595", "pmid:41468806", "pmid:40585427", "pmid:37365568", "pmid:37202645", "pmid:32386547", "pmid:24497578", "pmid:22912713", "pmid:21887706", "pmid:19264154"]
},
{
"id": "FAME1_SAMD12",
@@ -4398,7 +4398,7 @@
"locus_tags": ["somatic_instability", "anticipation", "motif_affects_instability", "motif_affects_onset", "motif_affects_penetrance", "maternal_expansion"],
"disease_tags": ["familial_adult_myoclonic_epilepsy"],
"references": ["pmid:29939203", "pmid:40503331", "pmid:29507423", "omim:601068", "pmid:38467784", "pmid:39569876", "pmid:38876750", "pmid:39349043"],
- "additional_literature": ["pmid:41874439", "pmid:41850906", "pmid:41426430", "pmid:41219789", "pmid:38961870", "pmid:38467733", "pmid:38059543", "pmid:37592133", "pmid:36740228", "pmid:36622139", "pmid:36092952", "pmid:33791773", "pmid:33721773", "pmid:33681653", "pmid:33501421", "pmid:33040085", "pmid:32973343", "pmid:32203200", "pmid:32194077", "pmid:32174879", "pmid:31664039", "pmid:31483537", "pmid:30559482", "pmid:30351492", "pmid:30194086"]
+ "additional_literature": ["pmid:42276331", "pmid:41874439", "pmid:41850906", "pmid:41426430", "pmid:41219789", "pmid:38961870", "pmid:38467733", "pmid:38059543", "pmid:37592133", "pmid:36740228", "pmid:36622139", "pmid:36092952", "pmid:33791773", "pmid:33721773", "pmid:33681653", "pmid:33501421", "pmid:33040085", "pmid:32973343", "pmid:32203200", "pmid:32194077", "pmid:32174879", "pmid:31664039", "pmid:31483537", "pmid:30559482", "pmid:30351492", "pmid:30194086"]
},
{
"id": "XLID_SOX3",
@@ -4743,7 +4743,7 @@
"locus_tags": ["somatic_instability", "anticipation", "paternal_expansion", "length_affects_onset", "length_affects_penetrance", "length_affects_phenotype", "motif_affects_instability"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["omim:607136,@pmid:35053321,@genereviews:NBK1438,@pmid:12805114,@genereviews:NBK1438", "pmid:35245110,@genereviews:NBK1438,@pmid:29100084,@pmid:10484774,@mondo:0011781"],
- "additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41612618", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"]
+ "additional_literature": ["pmid:42196324", "pmid:42038259", "pmid:41843312", "pmid:41762523", "pmid:41009775", "pmid:40488180", "pmid:40478462", "pmid:39950762", "pmid:39820777", "pmid:39680235", "pmid:39456985", "pmid:39125760", "pmid:38973070", "pmid:38961870", "pmid:38494459", "pmid:37855597", "pmid:37632648", "pmid:37146135", "pmid:36599645", "pmid:36476347", "pmid:36422518", "pmid:35926480", "pmid:35868859", "pmid:35493319", "pmid:35482253", "pmid:35275350", "pmid:35182509", "pmid:34906452", "pmid:34600502", "pmid:34565721", "pmid:34256333", "pmid:34235484", "pmid:33502644", "pmid:33377399", "pmid:32675418", "pmid:32533168", "pmid:32386547", "pmid:31940111", "pmid:31919387", "pmid:31522753", "pmid:30920184", "pmid:30891880", "pmid:30617627", "pmid:30615214", "pmid:30532692", "pmid:30314815", "pmid:30120431", "pmid:29801887", "pmid:29564144", "pmid:29249939", "pmid:29057148", "pmid:28821675", "pmid:28585930", "pmid:28444220", "pmid:28153533", "pmid:27865706", "pmid:27400454", "pmid:27172828", "pmid:26476771", "pmid:26387956", "pmid:26374734", "pmid:26267067", "pmid:26077168", "pmid:25672822", "pmid:24972706", "pmid:24677642", "pmid:24534762", "pmid:23665119", "pmid:23475385", "pmid:21710129", "pmid:21562248", "pmid:21437269", "pmid:20587494", "pmid:20199210", "pmid:20004653", "pmid:19595623", "pmid:19566714", "pmid:18218637", "pmid:18043721", "pmid:17961920", "pmid:17420317", "pmid:17273961", "pmid:17033685", "pmid:16858508", "pmid:16626296", "pmid:16223509", "pmid:16054804", "pmid:15850778", "pmid:15533937", "pmid:15503103", "pmid:15381080", "pmid:15365789", "pmid:15225551", "pmid:15193429", "pmid:14985389", "pmid:14967767", "pmid:12953269", "pmid:12891385", "pmid:12853230", "pmid:12758065", "pmid:11939898", "pmid:11571212", "pmid:11313753", "pmid:9399691", "pmid:8886170", "pmid:7892196", "pmid:8503450"]
},
{
"id": "TOF_TBX1",
@@ -5088,7 +5088,7 @@
"locus_tags": [],
"disease_tags": [],
"references": ["pmid:40589716"],
- "additional_literature": ["pmid:41507280", "pmid:41181325", "pmid:41074680", "pmid:41024012", "pmid:40890629", "pmid:40589716", "pmid:40195828", "pmid:38625071", "pmid:38411001", "pmid:38379425", "pmid:38311638", "pmid:38280392", "pmid:38134936", "pmid:36398398", "pmid:36209056", "pmid:35608245", "pmid:35233526", "pmid:35055435", "pmid:34650802", "pmid:34526668", "pmid:34197619", "pmid:34149004", "pmid:33805940", "pmid:33086767", "pmid:32813677", "pmid:32695278", "pmid:32612964", "pmid:32110891", "pmid:31817852", "pmid:31370354", "pmid:31161452", "pmid:30838312", "pmid:30823845", "pmid:30533396", "pmid:30464574", "pmid:30122542", "pmid:29995270", "pmid:29660633", "pmid:29394274", "pmid:29321350", "pmid:29162511", "pmid:28895423", "pmid:28349270", "pmid:28280649", "pmid:28074308", "pmid:28074022", "pmid:27995989", "pmid:27868347", "pmid:27864985", "pmid:27685916", "pmid:27375073", "pmid:29767611", "pmid:26745074", "pmid:26621114", "pmid:26277606", "pmid:26196219", "pmid:26189437", "pmid:25955097", "pmid:25648260", "pmid:25536611", "pmid:25366766", "pmid:25341694", "pmid:25294632", "pmid:25279663", "pmid:25258183", "pmid:25246386", "pmid:25028118", "pmid:25007187", "pmid:24726028", "pmid:24686188", "pmid:24641398", "pmid:24596472", "pmid:24554028", "pmid:24422758", "pmid:24415354", "pmid:24302747", "pmid:24137384", "pmid:23968134", "pmid:23571497", "pmid:23481061", "pmid:23232805", "pmid:23226765", "pmid:23148637", "pmid:22799365", "pmid:22763757", "pmid:22576918", "pmid:22086855", "pmid:22044939", "pmid:21630057", "pmid:21449681", "pmid:21269855", "pmid:21196216", "pmid:21075014", "pmid:20966539", "pmid:20962453", "pmid:20932673", "pmid:20880668", "pmid:20824655", "pmid:20651387", "pmid:20645403", "pmid:20570968", "pmid:20531375", "pmid:20372856", "pmid:20005374", "pmid:19998340", "pmid:19917450", "pmid:19798689", "pmid:19632929", "pmid:19349389", "pmid:19306093", "pmid:19200948", "pmid:19082493", "pmid:18843018", "pmid:18728661", "pmid:18704422", "pmid:18661526", "pmid:18406541", "pmid:18273818", "pmid:18267032", "pmid:18203297", "pmid:18095031", "pmid:17508355", "pmid:17396161", "pmid:17278107", "pmid:17273745", "pmid:17220568", "pmid:17201138", "pmid:17187508", "pmid:17047490", "pmid:17018589", "pmid:16929515", "pmid:16818689", "pmid:16596248", "pmid:16456808", "pmid:16334126", "pmid:16333305", "pmid:16234002", "pmid:16182121", "pmid:15897576", "pmid:15817609", "pmid:15749593", "pmid:15646842", "pmid:15579479", "pmid:15571262", "pmid:15510613", "pmid:15457444", "pmid:15386371", "pmid:15284183", "pmid:15115918", "pmid:14522928", "pmid:12684695", "pmid:12604405", "pmid:12460463", "pmid:12232785", "pmid:12215845", "pmid:12039668", "pmid:11913730", "pmid:11867566", "pmid:11751507", "pmid:11529907", "pmid:11445856", "pmid:10652619", "pmid:10636923", "pmid:10625460", "pmid:8751943", "pmid:3002689"]
+ "additional_literature": ["pmid:42083296", "pmid:41507280", "pmid:41181325", "pmid:41074680", "pmid:41024012", "pmid:40890629", "pmid:40195828", "pmid:38625071", "pmid:38411001", "pmid:38379425", "pmid:38311638", "pmid:38280392", "pmid:38134936", "pmid:36398398", "pmid:36209056", "pmid:35608245", "pmid:35233526", "pmid:35055435", "pmid:34650802", "pmid:34526668", "pmid:34197619", "pmid:34149004", "pmid:33805940", "pmid:33086767", "pmid:32813677", "pmid:32695278", "pmid:32612964", "pmid:32110891", "pmid:31817852", "pmid:31370354", "pmid:31161452", "pmid:30838312", "pmid:30823845", "pmid:30533396", "pmid:30464574", "pmid:30122542", "pmid:29995270", "pmid:29660633", "pmid:29394274", "pmid:29321350", "pmid:29162511", "pmid:28895423", "pmid:28349270", "pmid:28280649", "pmid:28074308", "pmid:28074022", "pmid:27995989", "pmid:27868347", "pmid:27864985", "pmid:27685916", "pmid:27375073", "pmid:29767611", "pmid:26745074", "pmid:26621114", "pmid:26277606", "pmid:26196219", "pmid:26189437", "pmid:25955097", "pmid:25648260", "pmid:25536611", "pmid:25366766", "pmid:25341694", "pmid:25294632", "pmid:25279663", "pmid:25258183", "pmid:25246386", "pmid:25028118", "pmid:25007187", "pmid:24726028", "pmid:24686188", "pmid:24641398", "pmid:24596472", "pmid:24554028", "pmid:24422758", "pmid:24415354", "pmid:24302747", "pmid:24137384", "pmid:23968134", "pmid:23571497", "pmid:23481061", "pmid:23232805", "pmid:23226765", "pmid:23148637", "pmid:22799365", "pmid:22763757", "pmid:22576918", "pmid:22086855", "pmid:22044939", "pmid:21630057", "pmid:21449681", "pmid:21269855", "pmid:21196216", "pmid:21075014", "pmid:20966539", "pmid:20962453", "pmid:20932673", "pmid:20880668", "pmid:20824655", "pmid:20651387", "pmid:20645403", "pmid:20570968", "pmid:20531375", "pmid:20372856", "pmid:20005374", "pmid:19998340", "pmid:19917450", "pmid:19798689", "pmid:19632929", "pmid:19349389", "pmid:19306093", "pmid:19200948", "pmid:19082493", "pmid:18843018", "pmid:18728661", "pmid:18704422", "pmid:18661526", "pmid:18406541", "pmid:18273818", "pmid:18267032", "pmid:18203297", "pmid:18095031", "pmid:17508355", "pmid:17396161", "pmid:17278107", "pmid:17273745", "pmid:17220568", "pmid:17201138", "pmid:17187508", "pmid:17047490", "pmid:17018589", "pmid:16929515", "pmid:16818689", "pmid:16596248", "pmid:16456808", "pmid:16334126", "pmid:16333305", "pmid:16234002", "pmid:16182121", "pmid:15897576", "pmid:15817609", "pmid:15749593", "pmid:15646842", "pmid:15579479", "pmid:15571262", "pmid:15510613", "pmid:15457444", "pmid:15386371", "pmid:15284183", "pmid:15115918", "pmid:14522928", "pmid:12684695", "pmid:12604405", "pmid:12460463", "pmid:12232785", "pmid:12215845", "pmid:12039668", "pmid:11913730", "pmid:11867566", "pmid:11751507", "pmid:11529907", "pmid:11445856", "pmid:10652619", "pmid:10636923", "pmid:10625460", "pmid:8751943", "pmid:3002689"]
},
{
"id": "HMNR7_VWA1",
@@ -5381,7 +5381,7 @@
"locus_tags": ["length_affects_onset"],
"disease_tags": ["spinocerebellar_ataxia"],
"references": ["pmid:39666847", "pmid:38973251", "pmid:38467784", "pmid:38035881", "pmid:38197134", "omim:600223", "pmid:39635987", "mondo:0010847"],
- "additional_literature": ["pmid:40898875", "pmid:40594369", "pmid:40488180", "pmid:40459184", "pmid:40166539", "pmid:39095619", "pmid:38684900", "pmid:38472396", "pmid:38145611", "pmid:20586826", "pmid:10855793"]
+ "additional_literature": ["pmid:42236257", "pmid:40898875", "pmid:40594369", "pmid:40488180", "pmid:40459184", "pmid:40166539", "pmid:39095619", "pmid:38684900", "pmid:38472396", "pmid:38145611", "pmid:20586826", "pmid:10855793"]
},
{
"id": "HPE5_ZIC2",
diff --git a/data/literature/ABCD3_batch_01.txt b/data/literature/ABCD3_batch_01.txt
index ba4f16ff..a47acec6 100644
--- a/data/literature/ABCD3_batch_01.txt
+++ b/data/literature/ABCD3_batch_01.txt
@@ -127,8 +127,8 @@ SO - medRxiv [Preprint]. 2026 Apr 1:2026.03.27.26349107. doi:
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -201,13 +201,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
diff --git a/data/literature/ARX_batch_01.txt b/data/literature/ARX_batch_01.txt
index 1f915416..18393cca 100644
--- a/data/literature/ARX_batch_01.txt
+++ b/data/literature/ARX_batch_01.txt
@@ -2248,7 +2248,6 @@ STAT- MEDLINE
DCOM- 20090803
LR - 20260429
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 27
@@ -2338,14 +2337,11 @@ PMC - PMC2782569
MID - NIHMS133699
EDAT- 2009/07/10 09:00
MHDA- 2009/08/04 09:00
-PMCR- 2010/01/08
CRDT- 2009/07/10 09:00
PHST- 2009/07/10 09:00 [entrez]
PHST- 2009/07/10 09:00 [pubmed]
PHST- 2009/08/04 09:00 [medline]
-PHST- 2010/01/08 00:00 [pmc-release]
AID - 29/27/8752 [pii]
-AID - 3501814 [pii]
AID - 10.1523/JNEUROSCI.0915-09.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Jul 8;29(27):8752-63. doi: 10.1523/JNEUROSCI.0915-09.2009.
diff --git a/data/literature/AR_batch_01.txt b/data/literature/AR_batch_01.txt
index 6bdcdc9e..72b4f4b1 100644
--- a/data/literature/AR_batch_01.txt
+++ b/data/literature/AR_batch_01.txt
@@ -1,9 +1,133 @@
+PMID- 42239750
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260624
+LR - 20260624
+IS - 2693-5015 (Electronic)
+IS - 2693-5015 (Linking)
+DP - 2026 May 18
+TI - A Novel Patient-Derived Xenograft Model of Inflammatory Breast Cancer.
+LID - rs.3.rs-9372889 [pii]
+LID - 10.21203/rs.3.rs-9372889/v1 [doi]
+AB - BACKGROUND: Few models exist for studying experimental therapeutics in
+ inflammatory breast cancer (IBC). Our study objective was to characterize a novel
+ patient-derived xenograft (PDX) from a HER2 positive IBC patient refractory to
+ neoadjuvant chemotherapy. METHODS: We derived a novel PDX from a patient with
+ hormone receptor negative, HER2-positive IBC refractory to neoadjuvant
+ chemotherapy with Docetaxel, Carboplatin, Trastuzumab, and Pertuzumab (TCHP).
+ Tumor was implanted into NOD/SCID/gamma mice (NSG) and used for serial propagation of
+ PDX. We performed short-tandem repeat (STR) profiling, plotted tumor growth
+ curves for mice treated with alpelisib/everolimus vs. untreated, and
+ immunohistochemistry (IHC), and performed clinical genomic assays. Paired
+ Student's t-tests were used to compare tumor growth curves. We used 10X Genomics
+ for single cell transcriptome analysis of 1000 cells derived from the PDX.
+ RESULTS: ctDNA sequencing revealed amplifications in MYC, ERBB2 (HER2), androgen
+ receptor (AR), PIK3CA, vMYB and loss of CDKN2A. Tumor sequencing found a H1047R
+ mutation in PIK3CA. STR profiling showed the propagated PDX tumor matched the
+ original tumor. The engraftment rate was 12/15 (80%) and median tumor volume
+ doubling was 24.5 days (range 9.2-175 days) for n = 15 untreated controls.
+ Alpelisib plus everolimus decreased tumor growth in our PDX (p = 0.006).
+ TCHP-resistant tumor cells downregulated HER2 expression, which was re-expressed
+ after treatment with alpelisib and everolimus. CONCLUSION: We established a PDX
+ of a HER2-positive IBC tumor with a PIK3CA hotspot mutation (H1047R) refractory
+ to TCHP. Targeting the PI3K/mTOR pathway may be useful to overcome resistance in
+ HER2-positive IBC with a H1047R mutation in PIK3CA.
+FAU - Ekpo, Princess
+AU - Ekpo P
+AD - Cleveland Clinic Lerner Research Institute, Cleveland Clinic Lerner School of
+ Medicine.
+FAU - Khattak, Monica
+AU - Khattak M
+AD - Cleveland Clinic Department of Graduate Medical Education.
+FAU - Cheung, Tiffany
+AU - Cheung T
+AD - Cleveland Clinic Department of Graduate Medical Education.
+FAU - Su, Yun Yun
+AU - Su YY
+AD - University of Southern California Norris Cancer Center.
+FAU - Bains, Pushpinder K
+AU - Bains PK
+AD - University of Southern California Norris Cancer Center.
+FAU - Juric, Ivan
+AU - Juric I
+AD - Cleveland Clinic Lerner Research Institute.
+FAU - Makarov, Vladimir
+AU - Makarov V
+AD - Cleveland Clinic Lerner Research Institute.
+FAU - Campo, Daniel
+AU - Campo D
+AD - University of Southern California Norris Cancer Center.
+FAU - McIntire, Patrick
+AU - McIntire P
+AD - Cleveland Clinic.
+FAU - Ring, Alexander
+AU - Ring A
+AD - University Hospital Zurich.
+FAU - Krings, Gregor
+AU - Krings G
+AD - Cleveland Clinic.
+FAU - List, Karin
+AU - List K
+AD - Wayne State University.
+FAU - Hicks, James
+AU - Hicks J
+AD - University of Southern California Michelson Center for Convergent Bioscience.
+FAU - Press, Michael F
+AU - Press MF
+AD - University of Southern California Norris Cancer Center.
+FAU - Keri, Ruth
+AU - Keri R
+AD - Cleveland Clinic Lerner Research Institute, Cleveland Clinic Lerner School of
+ Medicine.
+FAU - Stanczyk, Michael
+AU - Stanczyk M
+AD - Cleveland Clinic Lerner Research Institute, Cleveland Clinic Lerner School of
+ Medicine.
+FAU - Sengupta, Gigi
+AU - Sengupta G
+AD - Cleveland Clinic Lerner Research Institute, Cleveland Clinic Lerner School of
+ Medicine.
+FAU - Lang, Julie E
+AU - Lang JE
+AD - Cleveland Clinic Lerner Research Institute, Cleveland Clinic Lerner School of
+ Medicine.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260518
+PL - United States
+TA - Res Sq
+JT - Research square
+JID - 101768035
+PMC - PMC13228831
+OTO - NOTNLM
+OT - HER2 positive
+OT - IBC
+OT - inflammatory breast cancer
+OT - mouse model
+OT - patient-derived xenograft
+COIS- Competing Interests Dr. Lang served on a speaker bureau for Novartis and as a
+ faculty speaker for OncLive and received honoraria. Dr. Lang serves on the
+ speaker bureau for Merck.
+EDAT- 2026/06/04 06:34
+MHDA- 2026/06/04 06:35
+PMCR- 2026/06/02
+CRDT- 2026/06/04 05:43
+PHST- 2026/06/04 06:34 [pubmed]
+PHST- 2026/06/04 06:35 [medline]
+PHST- 2026/06/04 05:43 [entrez]
+PHST- 2026/06/02 00:00 [pmc-release]
+AID - rs.3.rs-9372889 [pii]
+AID - 10.21203/rs.3.rs-9372889/v1 [doi]
+PST - epublish
+SO - Res Sq [Preprint]. 2026 May 18:rs.3.rs-9372889. doi: 10.21203/rs.3.rs-9372889/v1.
+
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -264,7 +388,7 @@ PMID- 42070078
OWN - NLM
STAT- MEDLINE
DCOM- 20260503
-LR - 20260509
+LR - 20260623
IS - 1941-5923 (Electronic)
IS - 1941-5923 (Linking)
VI - 27
@@ -325,13 +449,14 @@ RN - 0 (Receptors, Androgen)
SB - IM
MH - Humans
MH - Male
-MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis
MH - Middle Aged
+MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis/complications
MH - *Receptors, Androgen/genetics
-MH - *Muscle Weakness/etiology/genetics
-MH - Electromyography
+MH - *Muscle Weakness/etiology
MH - Exons
-MH - *Trinucleotide Repeat Expansion
+MH - Electromyography
+MH - Disease Progression
+MH - Trinucleotide Repeats
PMC - PMC13151774
COIS- Conflict of interest: None declared
EDAT- 2026/05/03 06:37
@@ -351,7 +476,7 @@ PMID- 42067676
OWN - NLM
STAT- MEDLINE
DCOM- 20260501
-LR - 20260509
+LR - 20260623
IS - 1590-3478 (Electronic)
IS - 1590-1874 (Print)
IS - 1590-1874 (Linking)
@@ -438,16 +563,16 @@ JT - Neurological sciences : official journal of the Italian Neurological Socie
JID - 100959175
SB - IM
MH - Humans
-MH - Male
-MH - Italy
MH - Reproducibility of Results
-MH - Middle Aged
+MH - Italy
+MH - *Psychometrics
+MH - Male
MH - Female
-MH - Psychometrics
MH - *Bulbo-Spinal Atrophy, X-Linked/diagnosis/physiopathology
-MH - Aged
+MH - Middle Aged
MH - Adult
-MH - Severity of Illness Index
+MH - Aged
+MH - *Severity of Illness Index
PMC - PMC13135011
OTO - NOTNLM
OT - AMAT scale
@@ -476,8 +601,8 @@ SO - Neurol Sci. 2026 May 2;47(5):470. doi: 10.1007/s10072-026-09052-x.
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -651,18 +776,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -985,8 +1108,9 @@ SO - Mol Ther Nucleic Acids. 2025 Dec 11;37(1):102802. doi:
PMID- 41513898
OWN - NLM
-STAT- In-Process
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260625
+LR - 20260625
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -1082,20 +1206,24 @@ TA - J Neurol
JT - Journal of neurology
JID - 0423161
RN - 0 (Receptors, Androgen)
+RN - 0 (Neurofilament Proteins)
+RN - 0 (neurofilament protein L)
SB - IM
MH - Humans
MH - Male
-MH - Sweden/epidemiology
MH - Middle Aged
+MH - Sweden/epidemiology
MH - Female
+MH - *Cardiovascular Diseases/epidemiology/blood/physiopathology
+MH - Phenotype
MH - Aged
+MH - Receptors, Androgen/genetics
MH - Comorbidity
-MH - *Cardiovascular Diseases/epidemiology/genetics
MH - Adult
-MH - Phenotype
MH - Cohort Studies
-MH - Receptors, Androgen/genetics
MH - Bulbo-Spinal Atrophy, X-Linked/epidemiology
+MH - Neurofilament Proteins/blood
+MH - *Diabetes Mellitus/epidemiology
PMC - PMC12789218
OTO - NOTNLM
OT - Cardiovascular disease
@@ -1124,8 +1252,9 @@ SO - J Neurol. 2026 Jan 10;273(1):75. doi: 10.1007/s00415-025-13605-z.
PMID- 41361869
OWN - NLM
-STAT- In-Process
-LR - 20251212
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1471-2377 (Electronic)
IS - 1471-2377 (Linking)
VI - 25
@@ -1191,6 +1320,15 @@ TA - BMC Neurol
JT - BMC neurology
JID - 100968555
SB - IM
+MH - Humans
+MH - Male
+MH - *Ischemic Stroke/complications/diagnostic imaging
+MH - Aged
+MH - Female
+MH - Middle Aged
+MH - *Atherosclerosis/complications/diagnostic imaging
+MH - *Inflammation
+MH - *Intracranial Arteriosclerosis/complications
PMC - PMC12683864
OTO - NOTNLM
OT - Acute Ischemic Stroke (AIS)
@@ -1209,12 +1347,12 @@ COIS- Declarations. Ethics approval and consent to participate: In accordance wi
de-identified study data and results. Competing interests: The authors declare no
competing interests.
EDAT- 2025/12/09 07:38
-MHDA- 2025/12/09 07:38
+MHDA- 2026/06/27 06:44
PMCR- 2025/12/08
CRDT- 2025/12/09 00:37
PHST- 2024/08/21 00:00 [received]
PHST- 2025/10/28 00:00 [accepted]
-PHST- 2025/12/09 07:38 [medline]
+PHST- 2026/06/27 06:44 [medline]
PHST- 2025/12/09 07:38 [pubmed]
PHST- 2025/12/09 00:37 [entrez]
PHST- 2025/12/08 00:00 [pmc-release]
@@ -3187,7 +3325,7 @@ PMID- 38860410
OWN - NLM
STAT- MEDLINE
DCOM- 20240902
-LR - 20250228
+LR - 20260626
IS - 1399-0004 (Electronic)
IS - 0009-9163 (Linking)
VI - 106
@@ -3245,6 +3383,7 @@ AD - Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyd
LA - eng
PT - Case Reports
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240611
PL - Denmark
TA - Clin Genet
@@ -13633,7 +13772,7 @@ AD - "Kidney and Transplantation" Research Center, Department of Nephrology, Di
LA - eng
PT - Journal Article
DEP - 20180717
-PL - Italy
+PL - England
TA - J Nephrol
JT - Journal of nephrology
JID - 9012268
@@ -23979,6 +24118,7 @@ PST - ppublish
SO - Neurobiol Aging. 2013 May;34(5):1516.e17-9. doi:
10.1016/j.neurobiolaging.2012.09.008. Epub 2012 Oct 9.
+
PMID- 22941760
OWN - NLM
STAT- MEDLINE
@@ -24062,7 +24202,6 @@ AID - 10.1002/mus.23413 [doi]
PST - ppublish
SO - Muscle Nerve. 2012 Nov;46(5):692-7. doi: 10.1002/mus.23413. Epub 2012 Aug 31.
-
PMID- 22819977
OWN - NLM
STAT- MEDLINE
@@ -27613,7 +27752,6 @@ STAT- MEDLINE
DCOM- 20090416
LR - 20250529
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 7
@@ -27724,14 +27862,11 @@ PMC - PMC2746676
MID - NIHMS96954
EDAT- 2009/02/21 09:00
MHDA- 2009/04/17 09:00
-PMCR- 2009/08/18
CRDT- 2009/02/21 09:00
PHST- 2009/02/21 09:00 [entrez]
PHST- 2009/02/21 09:00 [pubmed]
PHST- 2009/04/17 09:00 [medline]
-PHST- 2009/08/18 00:00 [pmc-release]
AID - 29/7/1987 [pii]
-AID - 3451545 [pii]
AID - 10.1523/JNEUROSCI.4072-08.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Feb 18;29(7):1987-97. doi: 10.1523/JNEUROSCI.4072-08.2009.
@@ -41523,6 +41658,7 @@ AID - 10.1054/bjoc.1999.1007 [doi]
PST - ppublish
SO - Br J Cancer. 2000 Feb;82(4):827-32. doi: 10.1054/bjoc.1999.1007.
+
PMID- 10717532
OWN - NLM
STAT- MEDLINE
@@ -41595,7 +41731,6 @@ AID - 10.1016/s0959-8049(99)00310-x [doi]
PST - ppublish
SO - Eur J Cancer. 2000 Mar;36(4):533-4. doi: 10.1016/s0959-8049(99)00310-x.
-
PMID- 10717003
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATN1_batch_01.txt b/data/literature/ATN1_batch_01.txt
index ade70169..4558bb29 100644
--- a/data/literature/ATN1_batch_01.txt
+++ b/data/literature/ATN1_batch_01.txt
@@ -1,9 +1,117 @@
+PMID- 42359808
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
+IS - 1473-2300 (Electronic)
+IS - 0300-0605 (Print)
+IS - 0300-0605 (Linking)
+VI - 54
+IP - 6
+DP - 2026 Jun
+TI - Clinical features of dentatorubral-pallidoluysian atrophy: A survey of Chinese
+ patients.
+PG - 3000605261463715
+LID - 10.1177/03000605261463715 [doi]
+LID - 03000605261463715
+AB - ObjectiveWe aimed to characterize the clinical, magnetic resonance imaging, and
+ genetic features of Chinese patients with dentatorubral-pallidoluysian
+ atrophy.MethodsIn this retrospective case-series and literature-review study, we
+ analyzed three affected members belonging to the same family diagnosed at our
+ institution. We also reviewed genetically confirmed Chinese
+ dentatorubral-pallidoluysian atrophy cases reported in the China National
+ Knowledge Infrastructure, Wanfang, and PubMed databases up to 31 May 2025 and
+ included additional 42 patients from separate families. Cases with available age
+ at onset, initial symptoms, and CAG repeat size were included; cases without
+ magnetic resonance imaging data were excluded only from imaging-specific
+ analyses. Thus, the final cohort included 45 Chinese dentatorubral-pallidoluysian
+ atrophy patients.ResultsForty-five patients were analyzed. The median ATN1 CAG
+ repeat count was 62 (range, 53-79), and mean age at onset was 28.22 +/- 17.48
+ (range, 2-69) years. Seizures (46.7%) and gait instability (42.2%) were the most
+ common initial manifestations. Multiple clinical manifestations frequently
+ co-occurred, including gait instability (88.9%), cognitive impairment (73.3%),
+ speech impairment (66.7%), seizures (64.4%), and involuntary movements (48.9%).
+ Patients with seizure onset had larger CAG expansions and younger age at onset
+ than those with gait-instability onset. Age at onset negatively correlated with
+ CAG repeat count in the overall cohort and seizure-onset subgroup, but not in the
+ gait-instability subgroup.ConclusionsLarger ATN1 CAG repeat expansions may be
+ associated with earlier onset, especially in seizure-predominant
+ dentatorubral-pallidoluysian atrophy. Magnetic resonance imaging commonly shows
+ cerebellar atrophy and white-matter or brainstem involvement. After excluding
+ common causes, dentatorubral-pallidoluysian atrophy should be considered in
+ patients presenting with unexplained combinations of seizures, ataxia, cognitive
+ impairment, and a compatible family history.
+FAU - Zheng, Na
+AU - Zheng N
+AD - *These authors contributed equally to this work.
+FAU - Li, Miao
+AU - Li M
+AD - *These authors contributed equally to this work.
+FAU - Wang, Yun-Xia
+AU - Wang YX
+FAU - Yao, Guo-En
+AU - Yao GE
+AUID- ORCID: 0009-0002-5785-1060
+LA - eng
+PT - Journal Article
+DEP - 20260626
+PL - England
+TA - J Int Med Res
+JT - The Journal of international medical research
+JID - 0346411
+RN - 0 (atrophin-1)
+RN - 0 (Nerve Tissue Proteins)
+RN - Chinese people
+SB - IM
+MH - Humans
+MH - *Myoclonic Epilepsies,
+ Progressive/genetics/pathology/physiopathology/diagnosis/diagnostic
+ imaging/complications
+MH - Child
+MH - Child, Preschool
+MH - Magnetic Resonance Imaging
+MH - Adult
+MH - Adolescent
+MH - Female
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - China/epidemiology
+MH - Young Adult
+MH - Age of Onset
+MH - *Nerve Tissue Proteins/genetics
+MH - Retrospective Studies
+MH - *Seizures/genetics
+MH - Asian People/genetics
+MH - East Asian People
+PMC - PMC13309664
+OTO - NOTNLM
+OT - ATN1
+OT - China
+OT - dentatorubral-pallidoluysian atrophy
+OT - epilepsy
+OT - magnetic resonance imaging
+OT - retrospective study
+EDAT- 2026/06/27 04:10
+MHDA- 2026/06/27 07:10
+PMCR- 2026/06/26
+CRDT- 2026/06/26 07:22
+PHST- 2026/06/27 07:10 [medline]
+PHST- 2026/06/27 04:10 [pubmed]
+PHST- 2026/06/26 07:22 [entrez]
+PHST- 2026/06/26 00:00 [pmc-release]
+AID - 10.1177_03000605261463715 [pii]
+AID - 10.1177/03000605261463715 [doi]
+PST - ppublish
+SO - J Int Med Res. 2026 Jun;54(6):3000605261463715. doi: 10.1177/03000605261463715.
+ Epub 2026 Jun 26.
+
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -960,7 +1068,7 @@ PMID- 40340521
OWN - NLM
STAT- MEDLINE
DCOM- 20250808
-LR - 20250813
+LR - 20260629
IS - 1708-8283 (Electronic)
IS - 0883-0738 (Linking)
VI - 40
@@ -984,12 +1092,12 @@ AB - Progressive myoclonic epilepsy is a heterogeneous group of disorders
FAU - Aripirala, Prasanthi
AU - Aripirala P
AD - Rainbow Children's Hospital, Hyder Nagar, Banjara Hills, Hyderabad, Telangana,
- India. RINGGOLD: 272428
+ India.
FAU - Jagtap, Sujit Abajirao
AU - Jagtap SA
AUID- ORCID: 0000-0002-7512-2593
AD - Bajaj Allianz Comprehensive Center for Epilepsy Care, Deenanath Mangeshkar
- Hospital and Research Centre, Pune, Maharashtra, India. RINGGOLD: 76038
+ Hospital and Research Centre, Pune, Maharashtra, India.
LA - eng
PT - Case Reports
PT - Journal Article
diff --git a/data/literature/ATXN10_batch_01.txt b/data/literature/ATXN10_batch_01.txt
index d72c8571..2922fae6 100644
--- a/data/literature/ATXN10_batch_01.txt
+++ b/data/literature/ATXN10_batch_01.txt
@@ -1,4 +1,98 @@
+PMID- 42320256
+OWN - NLM
+STAT- Publisher
+LR - 20260619
+IS - 1873-5126 (Electronic)
+IS - 1353-8020 (Linking)
+VI - 149
+DP - 2026 Jun 18
+TI - Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and
+ preliminary evaluation of neurofilament light chain as a biomarker.
+PG - 108396
+LID - S1353-8020(26)00223-3 [pii]
+LID - 10.1016/j.parkreldis.2026.108396 [doi]
+AB - BACKGROUND AND OBJECTIVES: Spinocerebellar ataxia type 10 (SCA10) is a rare,
+ autosomal dominant neurodegenerative disorder characterized by progressive
+ cerebellar ataxia and, frequently, seizures. While it is linked to Native
+ American and East Asian ancestry, no cases have previously been reported in
+ Guatemala. METHODS: We evaluated a large Guatemalan family at the Mayo Movement
+ Disorder Clinic with index case of a 42-year-old Native American man with
+ genetically confirmed SCA10. Assessment included clinical history, the Scale for
+ the Assessment and Rating of Ataxia (SARA), neuroimaging, and molecular genetic
+ testing. Additionally, neurofilament light chain (NfL) levels were measured in
+ plasma and cerebrospinal fluid (CSF) from index symptomatic SCA10 case,
+ unaffected relatives, two healthy controls and two symptomatic SCA3 cases.
+ RESULTS: The index patient presented with slowly progressive balance impairment,
+ dysarthria, and limb ataxia starting in his 30s. Genetic testing confirmed a
+ pathogenic ATTCT repeat expansion in the ATXN10 gene. A strong family history was
+ noted, with several affected siblings and a wheelchair-bound mother, though
+ notably, no family members experienced seizures. CSF NfL levelin the index case
+ (650.7 pg/mL) was elevated compared to an unaffected relative and healthy
+ controls. DISCUSSION: This report identifies the first SCA10 family in Guatemala,
+ extending the known geographic distribution of the disorder in Central America.
+ Our findings also provide the first data on CSF NfL in SCA10, suggesting its
+ potential utility as a biomarker for monitoring disease progression.
+CI - Copyright (c) 2026. Published by Elsevier Ltd.
+FAU - Chmiela, Tomasz
+AU - Chmiela T
+AD - Department of Neurology, Mayo Clinic Florida, Jacksonville, USA; Department of
+ Neurology, Faculty of Medical Sciences, Medical University of Silesia, Katowice,
+ Poland.
+FAU - Pozo Cabanell, Ignacio
+AU - Pozo Cabanell I
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Petrucelli, Leonard
+AU - Petrucelli L
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Prudencio, Mercedes
+AU - Prudencio M
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Wszolek, Zbigniew K
+AU - Wszolek ZK
+AD - Department of Neurology, Mayo Clinic Florida, Jacksonville, USA. Electronic
+ address: wszolek.zbigniew@mayo.edu.
+LA - eng
+PT - Journal Article
+DEP - 20260618
+PL - England
+TA - Parkinsonism Relat Disord
+JT - Parkinsonism & related disorders
+JID - 9513583
+SB - IM
+OTO - NOTNLM
+OT - Cerebellar ataxia
+OT - Guatemala
+OT - Neurofilament light chain (NfL)
+OT - Spinocerebellar ataxia type 10 (SCA10)
+COIS- Declaration of competing interest The authors declare the following financial
+ interests/personal relationships which may be considered as potential competing
+ interests: Zbigniew K. Wszolek reports financial support was provided by Vigil
+ Neuroscience, Inc. Zbigniew K. Wszolek reports a relationship with Details in the
+ Manuscript that includes: consulting or advisory and funding grants. ZKW: is
+ partially supported by the Haworth Family Professorship in Neurodegenerative
+ Diseases fund, the PPND Family Foundation, and the gift from Margaret N. and John
+ Wilchek Family. He serves as Mayo Clinic Florida site PI on ONO-2808-03 grant. He
+ serves as Co-PI of the Mayo Clinic APDA Center for Advanced Research, and as an
+ external advisory board member for the Savanna Biotehrapeutics, Inc. If there are
+ other authors, they declare that they have no known competing financial interests
+ or personal relationships that could have appeared to influence the work reported
+ in this paper.
+EDAT- 2026/06/20 00:37
+MHDA- 2026/06/20 00:37
+CRDT- 2026/06/19 18:04
+PHST- 2026/04/08 00:00 [received]
+PHST- 2026/06/05 00:00 [revised]
+PHST- 2026/06/16 00:00 [accepted]
+PHST- 2026/06/20 00:37 [medline]
+PHST- 2026/06/20 00:37 [pubmed]
+PHST- 2026/06/19 18:04 [entrez]
+AID - S1353-8020(26)00223-3 [pii]
+AID - 10.1016/j.parkreldis.2026.108396 [doi]
+PST - aheadofprint
+SO - Parkinsonism Relat Disord. 2026 Jun 18;149:108396. doi:
+ 10.1016/j.parkreldis.2026.108396.
+
PMID- 41229449
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/ATXN1_batch_01.txt b/data/literature/ATXN1_batch_01.txt
index 1cf2fb3b..2aac815c 100644
--- a/data/literature/ATXN1_batch_01.txt
+++ b/data/literature/ATXN1_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -250,7 +250,7 @@ PMID- 41435767
OWN - NLM
STAT- MEDLINE
DCOM- 20260119
-LR - 20260119
+LR - 20260611
IS - 1476-928X (Electronic)
IS - 1476-9271 (Linking)
VI - 121
diff --git a/data/literature/ATXN2_batch_01.txt b/data/literature/ATXN2_batch_01.txt
index 7890a374..78359c2c 100644
--- a/data/literature/ATXN2_batch_01.txt
+++ b/data/literature/ATXN2_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 42204920
OWN - NLM
STAT- MEDLINE
DCOM- 20260528
-LR - 20260529
+LR - 20260630
IS - 2162-3279 (Electronic)
VI - 16
IP - 6
@@ -12,6 +12,7 @@ TI - Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's D
in the Hakka Population of Western Fujian.
PG - e71504
LID - 10.1002/brb3.71504 [doi]
+LID - e71504
AB - RESEARCH OBJECTIVE: Young-onset Parkinson's disease (YOPD), defined by symptom
onset at or before 50 years of age, has a strong genetic component. The mutation
spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a
@@ -85,13 +86,16 @@ MH - Genetic Variation
MH - Mutation
MH - *Parkinson Disease/genetics/ethnology
MH - *East Asian People/genetics
+PMC - PMC13239422
OTO - NOTNLM
OT - Hakka population
OT - clinical features
OT - genetic variants
OT - young-onset Parkinson's disease (YOPD)
+COIS- The authors declare no conflicts of interest.
EDAT- 2026/05/28 06:33
MHDA- 2026/05/28 06:34
+PMCR- 2026/05/27
CRDT- 2026/05/28 02:43
PHST- 2026/05/07 00:00 [revised]
PHST- 2025/10/22 00:00 [received]
@@ -99,6 +103,8 @@ PHST- 2026/05/12 00:00 [accepted]
PHST- 2026/05/28 06:34 [medline]
PHST- 2026/05/28 06:33 [pubmed]
PHST- 2026/05/28 02:43 [entrez]
+PHST- 2026/05/27 00:00 [pmc-release]
+AID - BRB371504 [pii]
AID - 10.1002/brb3.71504 [doi]
PST - ppublish
SO - Brain Behav. 2026 Jun;16(6):e71504. doi: 10.1002/brb3.71504.
@@ -106,8 +112,8 @@ SO - Brain Behav. 2026 Jun;16(6):e71504. doi: 10.1002/brb3.71504.
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -261,8 +267,8 @@ SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -342,22 +348,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -389,15 +395,19 @@ SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
PMID- 42087256
OWN - NLM
-STAT- Publisher
-LR - 20260505
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260616
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
+VI - 14
+IP - 1
DP - 2026 May 5
TI - Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration
in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic
lateral sclerosis.
LID - 10.1186/s40478-026-02301-2 [doi]
+LID - 124
AB - Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal,
early-onset neurodegenerative diseases. The most common genetic cause of FTD and
ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation
@@ -487,10 +497,9 @@ AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
r.j.west@sheffield.ac.uk.
LA - eng
GR - 630/Alzheimer's Society and The Heather Corrie Impact Fund/
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
-GR - NIH R35 NS122140/National Institutes of Health (NIH)/
-GR - NIH R35 NS122140/National Institutes of Health (NIH)/
GR - 510/ALZS_/Alzheimer's Society/United Kingdom
PT - Journal Article
DEP - 20260505
@@ -498,7 +507,26 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (C9orf72 Protein)
+RN - 0 (Ataxin-2)
+RN - 0 (ATX2 protein, Drosophila)
+RN - 0 (Drosophila Proteins)
+RN - 0 (C9orf72 protein, human)
SB - IM
+MH - Animals
+MH - *C9orf72 Protein/genetics/metabolism
+MH - *Amyotrophic Lateral Sclerosis/genetics/pathology/metabolism
+MH - Integrated Stress Response
+MH - *Frontotemporal Dementia/genetics/pathology/metabolism
+MH - *Ataxin-2/genetics/metabolism
+MH - Disease Models, Animal
+MH - Humans
+MH - DNA Repeat Expansion
+MH - Animals, Genetically Modified
+MH - Drosophila
+MH - Drosophila Proteins/genetics/metabolism
+MH - Stress Granules/metabolism
+PMC - PMC13251143
OTO - NOTNLM
OT - Drosophila
OT - Amyotrophic lateral sclerosis
@@ -512,23 +540,159 @@ COIS- Declarations. Ethics approval and consent to participate: Not applicable.
for publication: Not applicable. Competing interests: The authors declare no
competing interests.
EDAT- 2026/05/06 00:33
-MHDA- 2026/05/06 00:33
+MHDA- 2026/06/15 11:31
+PMCR- 2026/05/05
CRDT- 2026/05/05 23:55
PHST- 2025/06/19 00:00 [received]
PHST- 2026/04/17 00:00 [accepted]
-PHST- 2026/05/06 00:33 [medline]
+PHST- 2026/06/15 11:31 [medline]
PHST- 2026/05/06 00:33 [pubmed]
PHST- 2026/05/05 23:55 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
AID - 10.1186/s40478-026-02301-2 [pii]
+AID - 2301 [pii]
AID - 10.1186/s40478-026-02301-2 [doi]
-PST - aheadofprint
-SO - Acta Neuropathol Commun. 2026 May 5. doi: 10.1186/s40478-026-02301-2.
+PST - epublish
+SO - Acta Neuropathol Commun. 2026 May 5;14(1):124. doi: 10.1186/s40478-026-02301-2.
+
+PMID- 42060068
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260628
+LR - 20260628
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 Apr 30
+TI - Behavioral and Personality Changes as the First Manifestation of Spinocerebellar
+ Ataxia Type 2.
+LID - 66 [pii]
+LID - 10.1007/s12311-026-02007-0 [doi]
+AB - Background. Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant
+ neurodegenerative disorder caused by CAG repeat expansion in the ATXN2 gene.
+ Although classically characterized by progressive cerebellar ataxia and
+ oculomotor abnormalities, increasing evidence indicates that SCA2 is a
+ multisystem disorder with prominent cognitive, behavioral, and psychiatric
+ manifestations. These non-motor symptoms may precede overt motor signs, leading
+ to diagnostic challenges and misdiagnosis as primary psychiatric conditions. Case
+ Presentation. We report the case of a 59-year-old man with a several-year history
+ of progressive behavioral and emotional dysregulation, initially diagnosed as a
+ personality disorder. Prominent features included irritability, impulsivity,
+ disinhibition, hypersexuality, altered eating behavior, and recurrent
+ self-endangering suicidal gestures, with relatively preserved functional
+ autonomy. Neurological examination revealed subtle cerebellar signs.
+ Neuropsychological assessment showed impaired verbal memory with preserved
+ recognition and borderline attentional-executive deficits, consistent with
+ cerebello-frontal dysfunction. Brain magnetic resonance imaging (MRI)
+ demonstrated moderate-to-severe cerebellar and brainstem atrophy, while dopamine
+ transporter SPECT revealed severe bilateral presynaptic dopaminergic denervation.
+ Cerebrospinal fluid biomarkers excluded Alzheimer's disease. Genetic testing
+ confirmed SCA2 with 38 CAG repeats in ATXN2. Conclusions. This case illustrates
+ an atypical presentation of SCA2 in which behavioral and psychiatric symptoms
+ preceded motor manifestations by several years. Recognition of such presentations
+ is crucial to avoid misdiagnosis, reduce diagnostic delay, and enable timely
+ genetic counselling and multidisciplinary management, reinforcing the concept of
+ SCA2 as a multisystem neurodegenerative disorder.
+FAU - Vilella, Davide
+AU - Vilella D
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy. d.vilella@piafondazionepanico.it.
+FAU - Urso, Daniele
+AU - Urso D
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+FAU - Valguarnera, Agnese
+AU - Valguarnera A
+AD - Department of Translational Biomedicine and Neuroscience (DiBraiN), University of
+ Bari Aldo Moro, Piazza Giulio Cesare, 11, Bari, 70124, Italy.
+FAU - Volpe, Giuseppe
+AU - Volpe G
+AD - Department of Translational Biomedicine and Neuroscience (DiBraiN), University of
+ Bari Aldo Moro, Piazza Giulio Cesare, 11, Bari, 70124, Italy.
+FAU - Accadia, Maria
+AU - Accadia M
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+FAU - Zecca, Chiara
+AU - Zecca C
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+FAU - Vitulli, Alessandra
+AU - Vitulli A
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+FAU - De Blasi, Roberto
+AU - De Blasi R
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+FAU - Bertolino, Alessandro
+AU - Bertolino A
+AD - Department of Translational Biomedicine and Neuroscience (DiBraiN), University of
+ Bari Aldo Moro, Piazza Giulio Cesare, 11, Bari, 70124, Italy.
+FAU - Logroscino, Giancarlo
+AU - Logroscino G
+AD - Center for Neurodegenerative Diseases and The Aging Brain, University of Bari
+ Aldo Moro at Pia Fondazione Card. G. Panico , San Pio X, Tricase, Lecce, 73039,
+ Italy.
+AD - Department of Translational Biomedicine and Neuroscience (DiBraiN), University of
+ Bari Aldo Moro, Piazza Giulio Cesare, 11, Bari, 70124, Italy.
+LA - eng
+GR - B84I18000540002/Tecnopolo per la Medicina di Precisione/
+PT - Case Reports
+PT - Journal Article
+DEP - 20260430
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (ATXN2 protein, human)
+RN - 0 (Ataxin-2)
+SB - IM
+MH - Humans
+MH - Male
+MH - *Spinocerebellar Ataxias/genetics/psychology/complications/diagnostic
+ imaging/diagnosis
+MH - Middle Aged
+MH - *Personality Disorders/etiology/diagnostic imaging
+MH - Magnetic Resonance Imaging
+MH - Ataxin-2/genetics
+OTO - NOTNLM
+OT - Cerebellar cognitive affective syndrome
+OT - Psychiatric symptoms
+OT - Spinocerebellar ataxias
+OT - prodromal symptoms
+COIS- Declarations. Human Ethics and Consent to Participate: According to local
+ regulations and institutional policies, ethical committee approval was not
+ required for this case report. Written informed consent was obtained from the
+ patient for publication of the clinical data and images. The study adhered to the
+ principles outlined in the Declaration of Helsinki. Data confidentiality was
+ maintained through anonymization and secure data storage. Competing Interests:
+ The authors declare no competing interests.
+EDAT- 2026/04/30 12:35
+MHDA- 2026/06/28 06:35
+CRDT- 2026/04/30 11:07
+PHST- 2026/02/11 00:00 [received]
+PHST- 2026/04/17 00:00 [accepted]
+PHST- 2026/06/28 06:35 [medline]
+PHST- 2026/04/30 12:35 [pubmed]
+PHST- 2026/04/30 11:07 [entrez]
+AID - 10.1007/s12311-026-02007-0 [pii]
+AID - 10.1007/s12311-026-02007-0 [doi]
+PST - epublish
+SO - Cerebellum. 2026 Apr 30;25(3):66. doi: 10.1007/s12311-026-02007-0.
PMID- 42019185
OWN - NLM
STAT- MEDLINE
-DCOM- 20260525
-LR - 20260525
+DCOM- 20260622
+LR - 20260622
IS - 1872-8421 (Electronic)
IS - 0165-5728 (Linking)
VI - 417
@@ -632,11 +796,12 @@ SB - IM
MH - Humans
MH - Male
MH - Female
+MH - *Spinocerebellar Ataxias/immunology/blood/genetics
MH - Middle Aged
MH - Adult
-MH - *Spinocerebellar Ataxias/immunology/blood
-MH - *Lymphocyte Subsets/immunology
-MH - *Immunomodulation/physiology
+MH - *Lymphocyte Subsets/immunology/metabolism
+MH - *Immunomodulation/physiology/immunology
+MH - Flow Cytometry
MH - Aged
OTO - NOTNLM
OT - B lymphocytes
@@ -664,8 +829,8 @@ SO - J Neuroimmunol. 2026 Aug;417:578940. doi: 10.1016/j.jneuroim.2026.578940.
PMID- 41912844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260512
-LR - 20260512
+DCOM- 20260621
+LR - 20260621
IS - 1608-3091 (Electronic)
IS - 1607-6729 (Linking)
VI - 526
@@ -716,12 +881,13 @@ PL - United States
TA - Dokl Biochem Biophys
JT - Doklady. Biochemistry and biophysics
JID - 101126895
-RN - 0 (Ataxin-2)
RN - 0 (ATXN2 protein, human)
+RN - 0 (Ataxin-2)
SB - IM
-MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Ataxin-2/genetics/chemistry
+MH - *Trinucleotide Repeat Expansion
MH - Humans
+MH - *Ataxin-2/genetics/chemistry
+MH - Hydrogen Bonding
OTO - NOTNLM
OT - ATXN2 gene
OT - CAG tract
@@ -752,8 +918,8 @@ SO - Dokl Biochem Biophys. 2026 Feb;526(1):45-47. doi: 10.1134/S160767292560165
PMID- 41876820
OWN - NLM
STAT- MEDLINE
-DCOM- 20260325
-LR - 20260420
+DCOM- 20260620
+LR - 20260620
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Linking)
VI - 25
@@ -846,20 +1012,19 @@ TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
RN - 0 (Ataxin-2)
+RN - 0 (ATXN2 protein, human)
SB - IM
MH - Humans
-MH - Male
-MH - Female
+MH - *Spinocerebellar Ataxias/physiopathology/genetics/diagnosis
MH - Disease Progression
+MH - Female
+MH - Male
MH - Adult
-MH - *Spinocerebellar Ataxias/physiopathology/genetics/diagnosis/complications
-MH - Middle Aged
+MH - *Gait Ataxia/physiopathology/diagnosis/genetics
MH - *Gait/physiology
MH - Biomechanical Phenomena
+MH - Middle Aged
MH - Ataxin-2/genetics
-MH - Young Adult
-MH - *Gait Ataxia/physiopathology/diagnosis/genetics
-MH - Gait Analysis
OTO - NOTNLM
OT - Biomarkers
OT - Body-worn inertial measurement units
@@ -895,7 +1060,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -1013,27 +1178,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -1345,8 +1509,8 @@ SO - Ann Indian Acad Neurol. 2026 Jan 1;29(1):21-27. doi: 10.4103/aian.aian_426
PMID- 41683965
OWN - NLM
STAT- MEDLINE
-DCOM- 20260213
-LR - 20260216
+DCOM- 20260612
+LR - 20260612
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -1435,21 +1599,22 @@ PL - Switzerland
TA - Int J Mol Sci
JT - International journal of molecular sciences
JID - 101092791
-RN - 0 (Ataxin-2)
RN - 0 (ATXN2 protein, human)
+RN - 0 (Ataxin-2)
SB - IM
MH - Humans
MH - *Preimplantation Diagnosis/methods
-MH - *Spinocerebellar Ataxias/genetics/diagnosis
-MH - Female
MH - *Trinucleotide Repeat Expansion/genetics
+MH - Female
+MH - *Spinocerebellar Ataxias/genetics/diagnosis
MH - *Ataxin-2/genetics
-MH - *Genetic Testing/methods
MH - Pregnancy
-MH - Male
MH - Microsatellite Repeats
+MH - *Genetic Testing/methods
MH - Genotype
-MH - Adult
+MH - Male
+MH - Haplotypes
+MH - Alleles
PMC - PMC12898808
OTO - NOTNLM
OT - multi-microsatellite haplotyping
@@ -1620,7 +1785,7 @@ PMID- 41435767
OWN - NLM
STAT- MEDLINE
DCOM- 20260119
-LR - 20260119
+LR - 20260611
IS - 1476-928X (Electronic)
IS - 1476-9271 (Linking)
VI - 121
@@ -28970,6 +29135,7 @@ PST - ppublish
SO - J Neurol Sci. 2014 Dec 15;347(1-2):375-9. doi: 10.1016/j.jns.2014.10.036. Epub
2014 Oct 31.
+
PMID- 25189938
OWN - NLM
STAT- MEDLINE
@@ -29093,7 +29259,6 @@ AID - 10.1016/j.bandc.2014.07.007 [doi]
PST - ppublish
SO - Brain Cogn. 2014 Nov;91:28-34. doi: 10.1016/j.bandc.2014.07.007. Epub 2014 Sep 3.
-
PMID- 25189117
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATXN3_batch_01.txt b/data/literature/ATXN3_batch_01.txt
index 651bbdc8..9d533ddd 100644
--- a/data/literature/ATXN3_batch_01.txt
+++ b/data/literature/ATXN3_batch_01.txt
@@ -1,12 +1,422 @@
-PMID- 42191105
+PMID- 42337487
+OWN - NLM
+STAT- Publisher
+LR - 20260624
+IS - 1471-2377 (Electronic)
+IS - 1471-2377 (Linking)
+DP - 2026 Jun 23
+TI - Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort
+ of spinocerebellar ataxia type 3.
+LID - 10.1186/s12883-026-05101-2 [doi]
+AB - BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is caused by CAG repeat
+ expansion in ATXN3, which inversely correlates with age at onset but does not
+ fully account for interindividual variability. A recent study in a mixed
+ European/South and North American cohort suggested that the PRKN V380L variant
+ (rs1801582), particularly in C/C homozygotes, was associated with earlier disease
+ onset. We therefore performed a replication analysis to evaluate the frequency
+ and potential clinical relevance of rs1801582 in a Japanese SCA3 cohort. METHODS:
+ rs1801582 genotypes were determined by Sanger sequencing in 228 genetically
+ confirmed SCA3 patients and 260 SCA6 patients as convenience disease controls.
+ Genotype frequencies were additionally compared with East Asian reference
+ populations from the 1000 Genomes Project Phase 3 dataset. Associations with age
+ at onset were evaluated using multivariable linear regression adjusted for
+ expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length, and sex.
+ RESULTS: Genotype frequencies in SCA3 (G/G: 86.0%, G/C: 13.2%, C/C: 0.9%) were
+ similar to those in controls (G/G: 85.8%, G/C: 13.5%, C/C: 0.8%) and closely
+ resembled those reported in East Asian reference populations. Because of the
+ extremely small number of C/C carriers (n = 2), subsequent analyses focused on
+ G/G and G/C carriers. In SCA3, median age at onset was comparable between
+ genotypes (42 vs. 41 years), and median expanded ATXN3 CAG repeat lengths did not
+ differ between groups (71 vs. 71 repeats). Multivariable regression analysis
+ adjusting for expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length,
+ and sex demonstrated that rs1801582 was not independently associated with age at
+ onset (beta = - 0.42 years, p = 0.84), whereas expanded CAG repeat length remained a
+ strong predictor (beta = - 1.68 years per repeat, p < 0.0001). CONCLUSIONS: The
+ rs1801582 C/C genotype is extremely rare in Japan; therefore, the present cohort
+ had limited statistical power to directly evaluate the previously proposed
+ recessive modifier effect. No detectable association between rs1801582 genotype
+ and age at onset was identified among G/G and G/C carriers in this Japanese
+ cohort. These findings highlight the importance of population-specific validation
+ and adequately powered replication studies when evaluating candidate genetic
+ modifiers in SCA3.
+CI - (c) 2026. The Author(s).
+FAU - Nadbitova, Ekaterina
+AU - Nadbitova E
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Takei, Nobuyuki
+AU - Takei N
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Hirokawa, Sachiko
+AU - Hirokawa S
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Hatano, Yuya
+AU - Hatano Y
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Ishihara, Tomohiko
+AU - Ishihara T
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Onodera, Osamu
+AU - Onodera O
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Koike, Yuka Mitsuhashi
+AU - Koike YM
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan. yukkoike@bri.niigata-u.ac.jp.
+LA - eng
+PT - Journal Article
+DEP - 20260623
+PL - England
+TA - BMC Neurol
+JT - BMC neurology
+JID - 100968555
+SB - IM
+OTO - NOTNLM
+OT - Age at onset
+OT - Japanese population
+OT - Machado-Joseph disease (MJD)
+OT - Single nucleotide polymorphism
+COIS- Declarations. Ethics approval and consent to participate: The study was approved
+ by the institutional review board of Niigata University (approval number:
+ G2021-0010, approved on September 29, 2021) and was conducted in accordance with
+ the Declaration of Helsinki. The requirement for additional informed consent was
+ waived due to the retrospective design. Consent for publication: Not applicable.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/24 06:39
+MHDA- 2026/06/24 06:39
+CRDT- 2026/06/24 00:06
+PHST- 2026/03/07 00:00 [received]
+PHST- 2026/06/18 00:00 [accepted]
+PHST- 2026/06/24 06:39 [medline]
+PHST- 2026/06/24 06:39 [pubmed]
+PHST- 2026/06/24 00:06 [entrez]
+AID - 10.1186/s12883-026-05101-2 [pii]
+AID - 10.1186/s12883-026-05101-2 [doi]
+PST - aheadofprint
+SO - BMC Neurol. 2026 Jun 23. doi: 10.1186/s12883-026-05101-2.
+
+PMID- 42320256
+OWN - NLM
+STAT- Publisher
+LR - 20260619
+IS - 1873-5126 (Electronic)
+IS - 1353-8020 (Linking)
+VI - 149
+DP - 2026 Jun 18
+TI - Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and
+ preliminary evaluation of neurofilament light chain as a biomarker.
+PG - 108396
+LID - S1353-8020(26)00223-3 [pii]
+LID - 10.1016/j.parkreldis.2026.108396 [doi]
+AB - BACKGROUND AND OBJECTIVES: Spinocerebellar ataxia type 10 (SCA10) is a rare,
+ autosomal dominant neurodegenerative disorder characterized by progressive
+ cerebellar ataxia and, frequently, seizures. While it is linked to Native
+ American and East Asian ancestry, no cases have previously been reported in
+ Guatemala. METHODS: We evaluated a large Guatemalan family at the Mayo Movement
+ Disorder Clinic with index case of a 42-year-old Native American man with
+ genetically confirmed SCA10. Assessment included clinical history, the Scale for
+ the Assessment and Rating of Ataxia (SARA), neuroimaging, and molecular genetic
+ testing. Additionally, neurofilament light chain (NfL) levels were measured in
+ plasma and cerebrospinal fluid (CSF) from index symptomatic SCA10 case,
+ unaffected relatives, two healthy controls and two symptomatic SCA3 cases.
+ RESULTS: The index patient presented with slowly progressive balance impairment,
+ dysarthria, and limb ataxia starting in his 30s. Genetic testing confirmed a
+ pathogenic ATTCT repeat expansion in the ATXN10 gene. A strong family history was
+ noted, with several affected siblings and a wheelchair-bound mother, though
+ notably, no family members experienced seizures. CSF NfL levelin the index case
+ (650.7 pg/mL) was elevated compared to an unaffected relative and healthy
+ controls. DISCUSSION: This report identifies the first SCA10 family in Guatemala,
+ extending the known geographic distribution of the disorder in Central America.
+ Our findings also provide the first data on CSF NfL in SCA10, suggesting its
+ potential utility as a biomarker for monitoring disease progression.
+CI - Copyright (c) 2026. Published by Elsevier Ltd.
+FAU - Chmiela, Tomasz
+AU - Chmiela T
+AD - Department of Neurology, Mayo Clinic Florida, Jacksonville, USA; Department of
+ Neurology, Faculty of Medical Sciences, Medical University of Silesia, Katowice,
+ Poland.
+FAU - Pozo Cabanell, Ignacio
+AU - Pozo Cabanell I
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Petrucelli, Leonard
+AU - Petrucelli L
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Prudencio, Mercedes
+AU - Prudencio M
+AD - Department of Neuroscience, Mayo Clinic Florida, Jacksonville, USA.
+FAU - Wszolek, Zbigniew K
+AU - Wszolek ZK
+AD - Department of Neurology, Mayo Clinic Florida, Jacksonville, USA. Electronic
+ address: wszolek.zbigniew@mayo.edu.
+LA - eng
+PT - Journal Article
+DEP - 20260618
+PL - England
+TA - Parkinsonism Relat Disord
+JT - Parkinsonism & related disorders
+JID - 9513583
+SB - IM
+OTO - NOTNLM
+OT - Cerebellar ataxia
+OT - Guatemala
+OT - Neurofilament light chain (NfL)
+OT - Spinocerebellar ataxia type 10 (SCA10)
+COIS- Declaration of competing interest The authors declare the following financial
+ interests/personal relationships which may be considered as potential competing
+ interests: Zbigniew K. Wszolek reports financial support was provided by Vigil
+ Neuroscience, Inc. Zbigniew K. Wszolek reports a relationship with Details in the
+ Manuscript that includes: consulting or advisory and funding grants. ZKW: is
+ partially supported by the Haworth Family Professorship in Neurodegenerative
+ Diseases fund, the PPND Family Foundation, and the gift from Margaret N. and John
+ Wilchek Family. He serves as Mayo Clinic Florida site PI on ONO-2808-03 grant. He
+ serves as Co-PI of the Mayo Clinic APDA Center for Advanced Research, and as an
+ external advisory board member for the Savanna Biotehrapeutics, Inc. If there are
+ other authors, they declare that they have no known competing financial interests
+ or personal relationships that could have appeared to influence the work reported
+ in this paper.
+EDAT- 2026/06/20 00:37
+MHDA- 2026/06/20 00:37
+CRDT- 2026/06/19 18:04
+PHST- 2026/04/08 00:00 [received]
+PHST- 2026/06/05 00:00 [revised]
+PHST- 2026/06/16 00:00 [accepted]
+PHST- 2026/06/20 00:37 [medline]
+PHST- 2026/06/20 00:37 [pubmed]
+PHST- 2026/06/19 18:04 [entrez]
+AID - S1353-8020(26)00223-3 [pii]
+AID - 10.1016/j.parkreldis.2026.108396 [doi]
+PST - aheadofprint
+SO - Parkinsonism Relat Disord. 2026 Jun 18;149:108396. doi:
+ 10.1016/j.parkreldis.2026.108396.
+
+PMID- 42251968
OWN - NLM
STAT- Publisher
-LR - 20260530
+LR - 20260612
+IS - 1095-953X (Electronic)
+IS - 0969-9961 (Linking)
+VI - 227
+DP - 2026 Jun 6
+TI - The fT3/fT4 ratio as a candidate marker of motor progression in SCA3.
+PG - 107474
+LID - S0969-9961(26)00219-6 [pii]
+LID - 10.1016/j.nbd.2026.107474 [doi]
+AB - BACKGROUND: Motor severity and progression in spinocerebellar ataxia type 3
+ (SCA3) vary across individuals, yet physiological factors contributing to this
+ heterogeneity remain incompletely understood. Thyroid hormones are central
+ regulators of systemic metabolism and are associated with motor function and
+ frailty in physiological conditions and neurodegenerative diseases, but their
+ relevance to SCA3 is unclear. OBJECTIVES: To investigate whether thyroid-related
+ measures are associated with progression-related motor measures in SCA3. METHODS:
+ Thyroid function tests, including free triiodothyronine (fT3), free thyroxine
+ (fT4), and thyroid-stimulating hormone (TSH), together with derived
+ hypothalamic-pituitary-thyroid (HPT) homeostatic indices were analyzed in
+ pre-ataxic and ataxic ATXN3 carriers. Cross-sectional analyses were performed to
+ examine associations between thyroid-related measures and motor outcomes. In the
+ longitudinal cohort, linear mixed-effects models were used to assess whether
+ baseline fT3/fT4 ratio was associated with subsequent motor progression
+ trajectories. RESULTS: Euthyroid ATXN3 carriers showed reduced TSH and fT3/fT4
+ ratio, together with elevated thyroid's secretory capacity (SPINA-GT), compared
+ with controls. Both SPINA-GT elevation and fT3/fT4 reduction were already
+ detectable in pre-ataxic carriers, and at this stage fT3/fT4 was positively
+ associated with expanded CAG repeat length. In euthyroid symptomatic carriers,
+ lower fT3/fT4 ratios were associated with less favorable cross-sectional
+ annualized progression estimates, including higher Scale for the Assessment and
+ Rating of Ataxia (SARA)/year and International Cooperative Ataxia Rating Scale
+ (ICARS)/year. In the longitudinal cohort, patients in the lower baseline fT3/fT4
+ group showed steeper subsequent SARA worsening in the prespecified
+ baseline-anchored linear mixed-effects model (beta = -1.68, 95% CI -2.812 to -0.554,
+ p = 0.007), whereas the corresponding ICARS effect was not significant.
+ CONCLUSIONS: Our findings suggest that altered thyroid hormone homeostasis,
+ particularly a reduced fT3/fT4 ratio, is associated with progression-related
+ motor heterogeneity in SCA3. The reduction in fT3/fT4 ratio was detectable in
+ pre-ataxic carriers and was associated with subsequent SARA worsening in the
+ longitudinal cohort. These findings support a possible link between
+ thyroid-related metabolic alterations and disease heterogeneity in SCA3.
+CI - Copyright (c) 2026. Published by Elsevier Inc.
+FAU - Dong, Mengyuan
+AU - Dong M
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Ding, Ziyan
+AU - Ding Z
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Department of Neurology and Neuroscience Center, the First
+ Hospital of Jilin University, Changchun, Jilin Province, PR China.
+FAU - Chen, Zhao
+AU - Chen Z
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders,
+ Central South University, Changsha, Hunan, PR China; Bioinformatics Center &
+ National Clinical Research Center for Geriatric Disorders, Xiangya Hospital,
+ Central South University, Changsha, Hunan, PR China; Hunan International
+ Scientific and Technological Cooperation Base of Neurodegenerative and
+ Neurogenetic Diseases, Changsha, Hunan, PR China.
+FAU - Wan, Na
+AU - Wan N
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Peng, Linliu
+AU - Peng L
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders,
+ Central South University, Changsha, Hunan, PR China.
+FAU - Huang, Qinlin
+AU - Huang Q
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Hu, Jian
+AU - Hu J
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Cui, Ziting
+AU - Cui Z
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Peng, Rongfan
+AU - Peng R
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Zeng, Daren
+AU - Zeng D
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Zou, Ying
+AU - Zou Y
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Gong, Yiqing
+AU - Gong Y
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Tan, Yan
+AU - Tan Y
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Chen, Daji
+AU - Chen D
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Jiang, Qian
+AU - Jiang Q
+AD - Bioinformatics Center & National Clinical Research Center for Geriatric
+ Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
+FAU - He, Jiawei
+AU - He J
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Pei, Zhuan
+AU - Pei Z
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Ding, Siyu
+AU - Ding S
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Shen, Xiaokai
+AU - Shen X
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Wu, Qi
+AU - Wu Q
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Deng, Qi
+AU - Deng Q
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Yuan, Hongyu
+AU - Yuan H
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Wang, Chunrong
+AU - Wang C
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Department of Pathology, Xiangya Hospital, Central South
+ University, Changsha, Hunan, PR China.
+FAU - Wan, Linlin
+AU - Wan L
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders,
+ Central South University, Changsha, Hunan, PR China; Department of Radiology,
+ Xiangya Hospital, Central South University, Changsha, Hunan, PR China; National
+ International Collaborative Research Center for Medical Metabolomics, Central
+ South University, Changsha, Hunan, PR China.
+FAU - He, Lang
+AU - He L
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Department of Pathology, Xiangya Hospital, Central South
+ University, Changsha, Hunan, PR China.
+FAU - Peng, Huirong
+AU - Peng H
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Shi, Yuting
+AU - Shi Y
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China.
+FAU - Qiu, Rong
+AU - Qiu R
+AD - School of Computer Science and Engineering, Central South University, Changsha,
+ Hunan, PR China. Electronic address: qiurongrong@126.com.
+FAU - Jiang, Hong
+AU - Jiang H
+AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha,
+ Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders,
+ Central South University, Changsha, Hunan, PR China; Hunan International
+ Scientific and Technological Cooperation Base of Neurodegenerative and
+ Neurogenetic Diseases, Changsha, Hunan, PR China; Department of Neurology, The
+ Third Xiangya Hospital of Central South University, Changsha, Hunan, PR China;
+ Furong Laboratory, Central South University, Changsha, Hunan, PR China; Brain
+ Research Center, Central South University, Changsha, Hunan, PR China. Electronic
+ address: jianghong73868@126.com.
+LA - eng
+PT - Journal Article
+DEP - 20260606
+PL - United States
+TA - Neurobiol Dis
+JT - Neurobiology of disease
+JID - 9500169
+SB - IM
+OTO - NOTNLM
+OT - Cerebellum
+OT - Hypothalamic-pituitary-thyroid axis
+OT - Motor progression
+OT - Spinocerebellar ataxia type 3
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper.
+EDAT- 2026/06/08 00:36
+MHDA- 2026/06/08 00:36
+CRDT- 2026/06/07 19:26
+PHST- 2025/12/21 00:00 [received]
+PHST- 2026/04/15 00:00 [revised]
+PHST- 2026/06/05 00:00 [accepted]
+PHST- 2026/06/08 00:36 [pubmed]
+PHST- 2026/06/08 00:36 [medline]
+PHST- 2026/06/07 19:26 [entrez]
+AID - S0969-9961(26)00219-6 [pii]
+AID - 10.1016/j.nbd.2026.107474 [doi]
+PST - aheadofprint
+SO - Neurobiol Dis. 2026 Jun 6;227:107474. doi: 10.1016/j.nbd.2026.107474.
+
+PMID- 42191105
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260624
+LR - 20260630
IS - 1873-7544 (Electronic)
IS - 0306-4522 (Linking)
VI - 609
-DP - 2026 May 25
+DP - 2026 Aug 17
TI - White matter structural network alterations in spinocerebellar ataxia type 3: A
graph theory analysis.
PG - 27-35
@@ -82,12 +492,23 @@ AD - 7T Magnetic Resonance Translational Medicine Research Center, Department o
University), Chongqing, China. Electronic address: liuchen@aifmri.com.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260525
PL - United States
TA - Neuroscience
JT - Neuroscience
JID - 7605074
SB - IM
+MH - Humans
+MH - *White Matter/pathology/diagnostic imaging
+MH - Female
+MH - *Machado-Joseph Disease/pathology/diagnostic imaging/genetics
+MH - Diffusion Tensor Imaging/methods
+MH - Male
+MH - Neural Pathways/pathology/diagnostic imaging
+MH - Adult
+MH - *Brain/pathology/diagnostic imaging
+MH - Middle Aged
OTO - NOTNLM
OT - Graph theory
OT - Spinocerebellar ataxia type 3
@@ -96,24 +517,25 @@ COIS- Declaration of competing interest The authors declare that they have no kn
competing financial interests or personal relationships that could have appeared
to influence the work reported in this paper.
EDAT- 2026/05/27 00:30
-MHDA- 2026/05/27 00:30
+MHDA- 2026/06/25 00:34
CRDT- 2026/05/26 19:37
PHST- 2026/02/09 00:00 [received]
PHST- 2026/05/11 00:00 [revised]
PHST- 2026/05/25 00:00 [accepted]
+PHST- 2026/06/25 00:34 [medline]
PHST- 2026/05/27 00:30 [pubmed]
-PHST- 2026/05/27 00:30 [medline]
PHST- 2026/05/26 19:37 [entrez]
AID - S0306-4522(26)00350-7 [pii]
AID - 10.1016/j.neuroscience.2026.05.027 [doi]
-PST - aheadofprint
-SO - Neuroscience. 2026 May 25;609:27-35. doi: 10.1016/j.neuroscience.2026.05.027.
+PST - ppublish
+SO - Neuroscience. 2026 Aug 17;609:27-35. doi: 10.1016/j.neuroscience.2026.05.027.
+ Epub 2026 May 25.
PMID- 42105168
OWN - NLM
STAT- MEDLINE
DCOM- 20260509
-LR - 20260512
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -193,12 +615,12 @@ SB - IM
MH - Humans
MH - *Adrenoleukodystrophy/diagnostic imaging/genetics/pathology
MH - Male
-MH - Magnetic Resonance Imaging
MH - Middle Aged
-MH - *Cerebellum/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
MH - *Brain Stem/diagnostic imaging/pathology
+MH - *Cerebellum/diagnostic imaging/pathology
MH - ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
-MH - *Brain/diagnostic imaging
+MH - Brain/diagnostic imaging
PMC - PMC13157408
OTO - NOTNLM
OT - Adrenoleukodystrophy
@@ -231,8 +653,8 @@ SO - Cerebellum. 2026 May 9;25(3):77. doi: 10.1007/s12311-026-02018-x.
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -312,22 +734,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -360,8 +782,8 @@ SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
PMID- 41854058
OWN - NLM
STAT- MEDLINE
-DCOM- 20260319
-LR - 20260319
+DCOM- 20260620
+LR - 20260620
IS - 1460-2083 (Electronic)
IS - 0964-6906 (Linking)
VI - 35
@@ -518,23 +940,21 @@ PL - England
TA - Hum Mol Genet
JT - Human molecular genetics
JID - 9208958
-RN - 0 (Apolipoprotein E4)
RN - EC 3.4.19.12 (Ataxin-3)
+RN - 0 (Apolipoprotein E4)
RN - EC 3.4.19.12 (ATXN3 protein, human)
RN - 0 (Repressor Proteins)
SB - IM
MH - Humans
-MH - Age of Onset
-MH - Female
-MH - Male
MH - *Machado-Joseph Disease/genetics/epidemiology
-MH - Middle Aged
-MH - Homozygote
-MH - Adult
+MH - Age of Onset
MH - Haplotypes
+MH - Homozygote
+MH - Ataxin-3/genetics
MH - *Apolipoprotein E4/genetics
-MH - Aged
-MH - Ataxin-3
+MH - Trinucleotide Repeat Expansion
+MH - Female
+MH - Male
MH - Alleles
MH - Repressor Proteins
OTO - NOTNLM
@@ -598,13 +1018,18 @@ SO - Hum Mol Genet. 2026 Feb 23;35(5):ddag016. doi: 10.1093/hmg/ddag016.
PMID- 41853947
OWN - NLM
-STAT- Publisher
-LR - 20260319
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
-DP - 2026 Mar 19
+VI - 41
+IP - 6
+DP - 2026 Jun
TI - Modulation of the Stress Granule Component Carhsp1 Mitigates Disease-Associated
Deficits in Spinocerebellar Ataxia Type 3 Mouse Models.
+PG - 1516-1527
LID - 10.1002/mds.70271 [doi]
AB - BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ)
neurogenerative disorder that results from CAG trinucleotide repeat expansions in
@@ -698,7 +1123,25 @@ PL - United States
TA - Mov Disord
JT - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
+RN - EC 3.4.19.12 (Ataxin-3)
+RN - 0 (Molecular Chaperones)
+RN - 0 (Heat-Shock Proteins)
+RN - 0 (Hsbp1 protein, mouse)
+RN - EC 3.4.19.12 (Atxn3 protein, mouse)
SB - IM
+MH - Animals
+MH - *Machado-Joseph Disease/genetics/metabolism/pathology
+MH - Disease Models, Animal
+MH - Mice
+MH - Ataxin-3/genetics/metabolism
+MH - *Stress Granules/metabolism
+MH - Humans
+MH - *Molecular Chaperones/metabolism/genetics
+MH - Mice, Transgenic
+MH - *Heat-Shock Proteins/metabolism/genetics
+MH - Brain/metabolism/pathology
+MH - Trinucleotide Repeat Expansion/genetics
+PMC - PMC13307246
OTO - NOTNLM
OT - CRISPR-Cas9
OT - Carhsp1
@@ -706,23 +1149,26 @@ OT - polyglutamine diseases
OT - spinocerebellar ataxia type 3
OT - stress granules
EDAT- 2026/03/19 07:11
-MHDA- 2026/03/19 07:11
+MHDA- 2026/06/27 00:59
+PMCR- 2026/06/26
CRDT- 2026/03/19 05:33
PHST- 2026/02/02 00:00 [revised]
PHST- 2025/11/03 00:00 [received]
PHST- 2026/02/23 00:00 [accepted]
-PHST- 2026/03/19 07:11 [medline]
+PHST- 2026/06/27 00:59 [medline]
PHST- 2026/03/19 07:11 [pubmed]
PHST- 2026/03/19 05:33 [entrez]
+PHST- 2026/06/26 00:00 [pmc-release]
+AID - MDS70271 [pii]
AID - 10.1002/mds.70271 [doi]
-PST - aheadofprint
-SO - Mov Disord. 2026 Mar 19. doi: 10.1002/mds.70271.
+PST - ppublish
+SO - Mov Disord. 2026 Jun;41(6):1516-1527. doi: 10.1002/mds.70271. Epub 2026 Mar 19.
PMID- 41818480
OWN - NLM
STAT- MEDLINE
DCOM- 20260324
-LR - 20260505
+LR - 20260620
IS - 1759-6653 (Electronic)
IS - 1759-6653 (Linking)
VI - 18
@@ -815,7 +1261,6 @@ AD - Institute of Molecular Pathology and Immunology of the University of Porto
(IPATIMUP), University of Porto, Porto, Portugal.
LA - eng
PT - Journal Article
-PT - Research Support, Non-U.S. Gov't
PL - England
TA - Genome Biol Evol
JT - Genome biology and evolution
@@ -823,13 +1268,15 @@ JID - 101509707
RN - EC 3.4.19.12 (Ataxin-3)
RN - 0 (Retroelements)
SB - IM
-MH - *Ataxin-3/genetics
MH - Animals
+MH - *Ataxin-3/genetics
MH - *Evolution, Molecular
MH - *Primates/genetics
+MH - Humans
MH - *Retroelements
MH - Phylogeny
-MH - Humans
+MH - Amino Acid Sequence
+MH - Multigene Family
MH - Machado-Joseph Disease/genetics
PMC - PMC13010821
OTO - NOTNLM
@@ -858,7 +1305,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -976,27 +1423,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -1280,8 +1726,8 @@ SO - J Adv Res. 2026 Feb 17:S2090-1232(26)00163-3. doi: 10.1016/j.jare.2026.02.
PMID- 41701293
OWN - NLM
STAT- MEDLINE
-DCOM- 20260217
-LR - 20260217
+DCOM- 20260609
+LR - 20260609
IS - 1559-1182 (Electronic)
IS - 0893-7648 (Linking)
VI - 63
@@ -1418,14 +1864,14 @@ JID - 8900963
RN - EC 3.4.19.12 (Ataxin-3)
SB - IM
MH - Animals
-MH - *Machado-Joseph Disease/genetics/pathology/metabolism
-MH - *Single-Cell Analysis/methods
MH - *Heat-Shock Response/genetics
+MH - *Machado-Joseph Disease/genetics/pathology/metabolism
MH - Mice, Transgenic
MH - Ataxin-3/genetics/metabolism
-MH - Humans
-MH - Mice
MH - *Sequence Analysis, RNA/methods
+MH - *Single-Cell Analysis/methods
+MH - Single-Cell Gene Expression Analysis
+MH - Humans
OTO - NOTNLM
OT - CHIP
OT - HSF1
@@ -1542,97 +1988,6 @@ PST - epublish
SO - Front Cell Neurosci. 2026 Jan 14;19:1735225. doi: 10.3389/fncel.2025.1735225.
eCollection 2025.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41552385
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -1764,7 +2119,7 @@ PMID- 41435767
OWN - NLM
STAT- MEDLINE
DCOM- 20260119
-LR - 20260119
+LR - 20260611
IS - 1476-928X (Electronic)
IS - 1476-9271 (Linking)
VI - 121
@@ -8597,7 +8952,7 @@ PMID- 38429929
OWN - NLM
STAT- MEDLINE
DCOM- 20240502
-LR - 20250502
+LR - 20260618
IS - 1525-0024 (Electronic)
IS - 1525-0016 (Print)
IS - 1525-0016 (Linking)
@@ -28212,6 +28567,7 @@ AID - 10.1093/brain/awu174 [doi]
PST - ppublish
SO - Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.
+
PMID- 24780882
OWN - NLM
STAT- MEDLINE
@@ -28593,7 +28949,6 @@ PST - ppublish
SO - Neurobiol Aging. 2014 Sep;35(9):2179.e15-8. doi:
10.1016/j.neurobiolaging.2014.03.020. Epub 2014 Mar 22.
-
PMID- 24675225
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/ATXN7_batch_01.txt b/data/literature/ATXN7_batch_01.txt
index 30506209..9dae7351 100644
--- a/data/literature/ATXN7_batch_01.txt
+++ b/data/literature/ATXN7_batch_01.txt
@@ -1,9 +1,252 @@
+PMID- 42340810
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260624
+LR - 20260624
+IS - 1555-8584 (Electronic)
+IS - 1547-6286 (Print)
+IS - 1547-6286 (Linking)
+VI - 23
+IP - 1
+DP - 2026 Dec
+TI - Discovery of a mutation-containing circRNA in polyglutamine disease through
+ systematic analysis of RNAs with CAG repeats.
+PG - 1-12
+LID - 10.1080/15476286.2026.2684791 [doi]
+AB - CAG repeat tracts occur in both non-coding and translated RNAs, have tended to
+ lengthen throughout evolution, and are thought to enhance neuronal function. We
+ identified over 600 human RNAs (including mRNAs, lncRNAs, and circRNAs) with at
+ least 10 CAG repeats, originating from 58 genomic loci, which vary, e.g. in the
+ rate of CAG length polymorphism. Several circRNAs originate from the ATXN7 locus,
+ where CAG expansion causes spinocerebellar ataxia type 7 (SCA7). For selected
+ circATXN7(3,4).1 (circ1), we demonstrated its cytoplasmic localization, as well
+ as its presence in 40S, monosome and polysome fractions. We showed that circ1 is
+ expressed in human fibroblasts, blood and cerebellum, and, importantly, we
+ identified a mutation-containing circRNA with potential implications in SCA7.
+FAU - Pawlik, Weronika
+AU - Pawlik W
+AUID- ORCID: 0000-0002-7998-4860
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Wozna-Wysocka, Magdalena
+AU - Wozna-Wysocka M
+AUID- ORCID: 0000-0003-2993-7000
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Jazurek-Ciesiolka, Magdalena
+AU - Jazurek-Ciesiolka M
+AUID- ORCID: 0000-0001-7403-7218
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Dulski, Jaroslaw
+AU - Dulski J
+AUID- ORCID: 0000-0002-5517-9875
+AD - Department of Neurology, Neurodegenerative Diseases and Neuroimmunology, Medical
+ University of Gdansk, Gdansk, Poland.
+FAU - Witkos, Tomasz M
+AU - Witkos TM
+AUID- ORCID: 0000-0002-6568-4429
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Ciolak, Agata
+AU - Ciolak A
+AUID- ORCID: 0000-0003-2586-0907
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Kozlowska, Emilia
+AU - Kozlowska E
+AUID- ORCID: 0000-0002-4742-5001
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Koscianska, Edyta
+AU - Koscianska E
+AUID- ORCID: 0000-0002-1665-2500
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - Bartelt, Luke C
+AU - Bartelt LC
+AUID- ORCID: 0000-0001-8731-3680
+AD - Department of Molecular Genetics and Microbiology, Duke University Medical
+ Center, Durham, NC, USA.
+FAU - Philippe, Julien
+AU - Philippe J
+AUID- ORCID: 0000-0003-1906-7259
+AD - Departments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry,
+ and Neurobiology & Behavior, and the Center for Neurotherapeutics, University of
+ California, Irvine, CA, USA.
+FAU - Slawek, Jaroslaw
+AU - Slawek J
+AUID- ORCID: 0000-0001-6816-0877
+AD - Department of Neurology, Neurodegenerative Diseases and Neuroimmunology, Medical
+ University of Gdansk, Gdansk, Poland.
+FAU - Switonski, Pawel M
+AU - Switonski PM
+AUID- ORCID: 0000-0003-0690-6228
+AD - Department of Neuronal Cell Biology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+FAU - La Spada, Albert R
+AU - La Spada AR
+AUID- ORCID: 0000-0001-6151-2964
+AD - Departments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry,
+ and Neurobiology & Behavior, and the Center for Neurotherapeutics, University of
+ California, Irvine, CA, USA.
+FAU - Fiszer, Agnieszka
+AU - Fiszer A
+AUID- ORCID: 0000-0001-7829-1926
+AD - Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish
+ Academy of Sciences, Poznan, Poland.
+LA - eng
+PT - Journal Article
+DEP - 20260624
+PL - United States
+TA - RNA Biol
+JT - RNA biology
+JID - 101235328
+RN - 0 (RNA, Circular)
+RN - 26700-71-0 (polyglutamine)
+RN - 0 (Ataxin-7)
+RN - 0 (ATXN7 protein, human)
+RN - 0 (Peptides)
+RN - 63231-63-0 (RNA)
+SB - IM
+MH - Humans
+MH - RNA, Circular
+MH - *Spinocerebellar Ataxias/genetics
+MH - *Mutation
+MH - *Ataxin-7/genetics
+MH - *Trinucleotide Repeat Expansion
+MH - Peptides/genetics
+MH - *RNA/genetics
+MH - *Trinucleotide Repeats
+MH - Fibroblasts/metabolism
+PMC - PMC13313202
+OTO - NOTNLM
+OT - CAG repeats
+OT - SCA7
+OT - circRNA
+OT - lncRNA
+OT - non-coding RNA
+OT - polyglutamine diseases
+COIS- No potential conflict of interest was reported by the author(s).
+EDAT- 2026/06/24 18:35
+MHDA- 2026/06/24 18:36
+PMCR- 2026/06/24
+CRDT- 2026/06/24 12:24
+PHST- 2026/06/24 18:36 [medline]
+PHST- 2026/06/24 18:35 [pubmed]
+PHST- 2026/06/24 12:24 [entrez]
+PHST- 2026/06/24 00:00 [pmc-release]
+AID - 2684791 [pii]
+AID - 10.1080/15476286.2026.2684791 [doi]
+PST - ppublish
+SO - RNA Biol. 2026 Dec;23(1):1-12. doi: 10.1080/15476286.2026.2684791. Epub 2026 Jun
+ 24.
+
+PMID- 42264098
+OWN - NLM
+STAT- Publisher
+LR - 20260611
+IS - 1095-953X (Electronic)
+IS - 0969-9961 (Linking)
+VI - 227
+DP - 2026 Jun 9
+TI - Loss of astrocytic markers and impaired metabolic function in spinocerebellar
+ ataxia type 7 patient-derived neural cultures.
+PG - 107477
+LID - S0969-9961(26)00222-6 [pii]
+LID - 10.1016/j.nbd.2026.107477 [doi]
+AB - Spinocerebellar ataxia type 7 (SCA7) is a rare neurodegenerative disorder caused
+ by a CAG repeat expansion in the ATXN7 gene. This repeat expansion results in an
+ abnormally long polyglutamine (PolyQ) tract in the Ataxin-7 protein. This
+ ultimately leads to the degeneration of most notably Purkinje cells and retinal
+ cells. Because no treatment exist that can halt or slow disease progression,
+ there is a critical need for patient-specific disease models to uncover new
+ pathogenic mechanisms and enable therapeutic testing. In this study, induced
+ human pluripotent stem cells (hiPSCs) derived from healthy controls and
+ individuals with SCA7 were differentiated into a mixed neural cell population
+ consisting of neurons and astrocytes. Although control and SCA7 neurons appeared
+ morphologically similar, SCA7-derived astrocytes exhibited a pronounced loss of
+ the astrocyte-specific markers GFAP and S100B. Transcriptome analysis revealed
+ substantial alterations in genes related to glial differentiation, cellular
+ metabolism and oxygen handling, protein homeostasis, and neuronal differentiation
+ and neuronal signalling. Mitochondrial stress assays further confirmed a
+ mitochondrial phenotype in SCA7 neural cells. Together, these findings
+ demonstrate that hiPSC-derived neural cells provide a robust platform that can be
+ used for studying disease mechanisms and testing potential therapies for SCA7.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier Inc. All rights reserved.
+FAU - Bouwman, Linde F
+AU - Bouwman LF
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands.
+FAU - Buijsen, Ronald A M
+AU - Buijsen RAM
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands.
+FAU - van der Graaf, Linda M
+AU - van der Graaf LM
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands.
+FAU - Pepers, Barry A
+AU - Pepers BA
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands.
+FAU - Voesenek, Bas J B
+AU - Voesenek BJB
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands.
+FAU - Mei, Hailiang
+AU - Mei H
+AD - Department of Biomedical Data Sciences, Leiden University Medical Center,
+ Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.
+FAU - van de Warrenburg, Bart P C
+AU - van de Warrenburg BPC
+AD - Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour,
+ Radboud University Medical Center, Nijmegen, the Netherlands.
+FAU - van Roon-Mom, Willeke M C
+AU - van Roon-Mom WMC
+AD - Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2,
+ 2333 ZA Leiden, the Netherlands. Electronic address: W.M.C.van_Roon@lumc.nl.
+LA - eng
+PT - Journal Article
+DEP - 20260609
+PL - United States
+TA - Neurobiol Dis
+JT - Neurobiology of disease
+JID - 9500169
+SB - IM
+OTO - NOTNLM
+OT - Astrocytes
+OT - Disease modeling
+OT - Human induced pluripotent stem cell-derived neural cultures
+OT - Metabolic profiling
+OT - Neurodegeneration
+OT - Neurons
+OT - Spinocerebellar ataxia type 7
+OT - Transcriptome analysis
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper submitted to Neurobiology of
+ Disease.
+EDAT- 2026/06/10 06:55
+MHDA- 2026/06/10 06:55
+CRDT- 2026/06/09 19:41
+PHST- 2026/04/24 00:00 [received]
+PHST- 2026/05/27 00:00 [revised]
+PHST- 2026/06/08 00:00 [accepted]
+PHST- 2026/06/10 06:55 [pubmed]
+PHST- 2026/06/10 06:55 [medline]
+PHST- 2026/06/09 19:41 [entrez]
+AID - S0969-9961(26)00222-6 [pii]
+AID - 10.1016/j.nbd.2026.107477 [doi]
+PST - aheadofprint
+SO - Neurobiol Dis. 2026 Jun 9;227:107477. doi: 10.1016/j.nbd.2026.107477.
+
PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -121,27 +364,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -2034,7 +2276,7 @@ PMID- 39053472
OWN - NLM
STAT- MEDLINE
DCOM- 20240924
-LR - 20260127
+LR - 20260621
IS - 2379-3708 (Electronic)
IS - 2379-3708 (Linking)
VI - 9
@@ -2122,6 +2364,7 @@ GR - R01 HD099486/HD/NICHD NIH HHS/United States
GR - R21 NS098131/NS/NINDS NIH HHS/United States
GR - R35 NS122140/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20240718
PL - United States
TA - JCI Insight
@@ -11629,7 +11872,6 @@ STAT- MEDLINE
DCOM- 20120104
LR - 20260429
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 31
IP - 45
@@ -11732,14 +11974,11 @@ PMC - PMC3256125
MID - NIHMS340603
EDAT- 2011/11/11 06:00
MHDA- 2012/01/05 06:00
-PMCR- 2012/05/09
CRDT- 2011/11/11 06:00
PHST- 2011/11/11 06:00 [entrez]
PHST- 2011/11/11 06:00 [pubmed]
PHST- 2012/01/05 06:00 [medline]
-PHST- 2012/05/09 00:00 [pmc-release]
AID - 31/45/16269 [pii]
-AID - 3734364 [pii]
AID - 10.1523/JNEUROSCI.4000-11.2011 [doi]
PST - ppublish
SO - J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.
diff --git a/data/literature/ATXN8OS_batch_01.txt b/data/literature/ATXN8OS_batch_01.txt
index 15ff150d..a7c7ed80 100644
--- a/data/literature/ATXN8OS_batch_01.txt
+++ b/data/literature/ATXN8OS_batch_01.txt
@@ -1,9 +1,287 @@
+PMID- 42371259
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 4
+DP - 2026 Jun 29
+TI - Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel
+ Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.
+LID - 10.1007/s12311-026-02041-y [doi]
+LID - 102
+AB - Spinocerebellar ataxia type 27B is a recently described autosomal dominant,
+ late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the
+ fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent
+ adult-onset ataxia, its full clinical spectrum remains incompletely
+ understood. To characterize the neurological, cognitive, and paraclinical
+ phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand
+ the currently known motor and non-motor features, as well as to assess the
+ co-occurrence of other repeat expansions. In this cross-sectional single-center
+ study, patients with heterozygous FGF14 repeat expansions underwent standardized
+ neurological examination and cognitive screening. Paraclinical data were reviewed
+ when available. 18 patients were included in the study (mean age at onset: 64
+ [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most
+ commonly a lateral veering gait with corrective sidesteps. In addition to the
+ core known cerebellar phenotype, we identified other movement-disorder
+ manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with
+ nigrostriatal degeneration confirmed in one patient. Cognitive impairment was
+ common, with two-thirds of patients fulfilling criteria for cerebellar
+ cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]).
+ Worse CCAS and MoCA performance was associated with increasing ataxia severity.
+ FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with
+ heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three
+ patients. Earlier diagnostic misclassification as transient ischemic attack was
+ reported in 33%. These findings expand the known phenotype of spinocerebellar
+ ataxia type 27B, emphasizing it as a multisystem movement disorder.
+CI - (c) 2026. The Author(s).
+FAU - Rashedi, Ronak
+AU - Rashedi R
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Peemoller, Franca
+AU - Peemoller F
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Erdmann, Hannes
+AU - Erdmann H
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Gelderblom, Mathias
+AU - Gelderblom M
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Hidding, Ute
+AU - Hidding U
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Ganos, Christos
+AU - Ganos C
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+FAU - Chen, Robert
+AU - Chen R
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+AD - Division of Neurology, Department of Medicine, Krembil Research Institute,
+ University of Toronto, University Health Network, Toronto, ON, Canada.
+FAU - Abicht, Angela
+AU - Abicht A
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Zittel, Simone
+AU - Zittel S
+AUID- ORCID: 0000-0002-3767-6376
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany. s.zittel-dirks@uke.de.
+LA - eng
+PT - Journal Article
+DEP - 20260629
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - Spinocerebellar ataxia 27
+SB - IM
+MH - Humans
+MH - Female
+MH - Phenotype
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Adult
+MH - Cross-Sectional Studies
+MH - *Fibroblast Growth Factors/genetics
+MH - *Cognitive Dysfunction/genetics/physiopathology
+MH - *Spinocerebellar Degenerations/genetics/physiopathology
+MH - Trinucleotide Repeat Expansion/genetics
+MH - Aged, 80 and over
+MH - *Spinocerebellar Ataxias/genetics
+MH - *Movement Disorders/genetics
+MH - DNA Repeat Expansion
+PMC - PMC13315097
+OTO - NOTNLM
+OT - Cerebellar Cognitive Affective Syndrome
+OT - Repeat Expansion Disorders
+OT - Spinocerebellar Ataxia
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+ Financial Disclosures of all Authors (for the Preceding 12 Months): RR FP UH HE
+ MG CG RC AA SZ Stock Ownership in medically related fields None None None None
+ None None None None None Intellectual Property Rights None None None None None
+ None None None None Consultancies None None None None None None None None None
+ Expert Testimony None None None None None None Abbvie, Merz, Ipsen None None
+ Advisory Boards None None None None Merz, Abbvie, Biogen None None None None
+ Employment University Medical Center Hamburg Eppendorf None University Medical
+ Center Hamburg Eppendorf Medical Genetics Center Munich University Medical Center
+ Hamburg Eppendorf University Health Network, University of Toront None Medical
+ Genetics Center Munich University Medical Center Hamburg Eppendorf Partnerships
+ None None None None None None None None None Inventions None None None None None
+ None None None None Contracts University Medical Center Hamburg Eppendorf None
+ None Medical Genetics Center Munich University Medical Center Hamburg Eppendorf
+ University Health Network None Medical Genetics Center Munich University Medical
+ Center Hamburg Eppendorf Honoraria None None None None Merz, Abbvie, Biogen,
+ Nihon Kohden Xeomin for educational courses, Movement disorders society for
+ educational courses None None Biogen Royalties None None None None None None None
+ None None Patents None None None None None None None None None Grants None None
+ None None DFG None Canadian Institute of Health Research, Parkinson Foundation,
+ National Organization of Rare Diseases, Natural Science and Engineering Research
+ Council of Canada, Abbvie None UKE Foundation Other None None None None None None
+ None None None
+EDAT- 2026/06/29 12:33
+MHDA- 2026/06/29 12:34
+PMCR- 2026/06/29
+CRDT- 2026/06/29 11:25
+PHST- 2026/04/23 00:00 [received]
+PHST- 2026/06/19 00:00 [accepted]
+PHST- 2026/06/29 12:34 [medline]
+PHST- 2026/06/29 12:33 [pubmed]
+PHST- 2026/06/29 11:25 [entrez]
+PHST- 2026/06/29 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02041-y [pii]
+AID - 2041 [pii]
+AID - 10.1007/s12311-026-02041-y [doi]
+PST - epublish
+SO - Cerebellum. 2026 Jun 29;25(4):102. doi: 10.1007/s12311-026-02041-y.
+
+PMID- 42105044
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260623
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White
+ Matter Changes without Cerebellar Atrophy.
+LID - 76 [pii]
+LID - 10.1007/s12311-026-02019-w [doi]
+AB - Spinal Cerebellar Ataxia Type 8 (SCA8) is a rare autosomal dominant
+ neurodegenerative disorder characterized by progressive cerebellar dysfunction.
+ It is caused by pathogenic expansions of a CTG/CAG trinucleotide repeat sequence
+ within the ATXN8OS/ATXN8 gene locus on chromosome 13q21. Although cerebellar
+ atrophy is widely recognized as a cardinal neuroimaging feature of SCA8, the
+ phenotypic spectrum remains incompletely characterized. This study identified two
+ cases of SCA8 through genetic analysis. Pedigree information was gathered and
+ analyzed for all available family members. A systematic literature review was
+ conducted to identify all published SCA8 cases with available neuroimaging data.
+ The distinctive clinical and radiological features of SCA8 were analyzed through
+ detailed case characterization integrated with a comprehensive review of existing
+ literature. We report two genetically confirmed SCA8 cases exhibiting a
+ previously undescribed neuroimaging phenotype. Case 1: A 36-year-old woman
+ presented with a one-year history of progressive gait ataxia. Brain MRI revealed
+ confluent, symmetric white matter signal abnormalities without cerebellar
+ atrophy. Repeat expansion analysis detected a pathogenic CTG/CAG expansion of
+ 9/77 in the ATXN8 gene. Case 2: A 64-year-old man (father of case 1) exhibited
+ significant gait abnormalities, cognitive impairment and dysarthria. Brain MRI
+ showed symmetric white matter lesions similar to case 1, with a CTG/CAG repeat
+ length of 17/73. Notably, our systematic review revealed no prior reports of SCA8
+ presenting with isolated, symmetric white matter abnormalities in the absence of
+ cerebellar atrophy. These findings delineate a novel neuroimaging phenotype of
+ SCA8, characterized by symmetric white matter alterations without cerebellar
+ volume loss. This atypical presentation expands the radiological spectrum of SCA8
+ and underscores the importance of considering repeat expansion disorders in the
+ differential diagnosis of leukoencephalopathies, even in the absence of classic
+ neurodegenerative imaging signatures.
+CI - (c) 2026. The Author(s), under exclusive licence to Springer Science+Business
+ Media, LLC, part of Springer Nature.
+FAU - Fang, Yongkang
+AU - Fang Y
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Lu, Yuanbing
+AU - Lu Y
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Zhu, Suiqiang
+AU - Zhu S
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Chen, Weiwei
+AU - Chen W
+AD - Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+ chenweiwei_tjh@tjh.tjmu.edu.cn.
+FAU - Huang, Shanshan
+AU - Huang S
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+ shanahuang3@gmail.com.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+ shanahuang3@gmail.com.
+LA - eng
+GR - 82001272/National Natural Science Foundation of China/
+GR - 2025AFB499/Natural Science Foundation of Hubei Province/
+GR - 2024A24/Science Foundation of Tongji Hospital/
+PT - Case Reports
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - Spinocerebellar ataxia 8
+SB - IM
+MH - Humans
+MH - Female
+MH - *White Matter/diagnostic imaging/pathology
+MH - Phenotype
+MH - Middle Aged
+MH - Adult
+MH - Male
+MH - *Cerebellum/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
+MH - Atrophy
+MH - Pedigree
+MH - *Spinocerebellar Ataxias/diagnostic imaging/genetics/pathology
+MH - *Spinocerebellar Degenerations/diagnostic imaging/genetics
+OTO - NOTNLM
+OT - Magnetic Resonance Imaging
+OT - Repeat Expansion Disorders
+OT - Spinal Cerebellar Ataxia Type 8
+OT - Symmetrical White Matter Changes
+COIS- Declarations. Ethics approval: Not applicable. Consent to participate and
+ publication: Written informed consent was obtained from all participants for
+ inclusion in the study and for publication of the case details, accompanying
+ brain MRI images and Genotyping results. Competing interests: The authors declare
+ no competing interests. Conflict of interest: The authors declare no conflicts of
+ interest.
+EDAT- 2026/05/10 05:17
+MHDA- 2026/05/10 05:18
+CRDT- 2026/05/09 11:06
+PHST- 2026/01/09 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:18 [medline]
+PHST- 2026/05/10 05:17 [pubmed]
+PHST- 2026/05/09 11:06 [entrez]
+AID - 10.1007/s12311-026-02019-w [pii]
+AID - 10.1007/s12311-026-02019-w [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):76. doi: 10.1007/s12311-026-02019-w.
+
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -83,22 +361,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -310,7 +588,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -428,27 +706,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -473,8 +750,8 @@ SO - Life Sci Alliance. 2026 Mar 2;9(5):e202503555. doi: 10.26508/lsa.202503555
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -648,18 +925,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -1894,7 +2169,7 @@ PMID- 40007153
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20250501
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -2069,6 +2344,7 @@ LA - eng
GR - MRF2023126/Medical Research Future Fund/
GR - MRF2025138/Medical Research Future Fund/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250225
PL - United States
TA - Ann Clin Transl Neurol
diff --git a/data/literature/BEAN1_batch_01.txt b/data/literature/BEAN1_batch_01.txt
index b2c69f9f..3964994b 100644
--- a/data/literature/BEAN1_batch_01.txt
+++ b/data/literature/BEAN1_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 41841436
OWN - NLM
STAT- MEDLINE
DCOM- 20260426
-LR - 20260428
+LR - 20260624
IS - 1521-3773 (Electronic)
IS - 1433-7851 (Print)
IS - 1433-7851 (Linking)
@@ -55,6 +55,7 @@ LA - eng
GR - 23K23488/Japan Society for the Promotion of the Science/
GR - JPMJCR20E6/Japan Science and Technology Agency/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260317
PL - Germany
TA - Angew Chem Int Ed Engl
@@ -64,12 +65,13 @@ RN - 63231-63-0 (RNA)
RN - 0 (Ligands)
RN - 0 (RNA-Binding Proteins)
SB - IM
-MH - *RNA/chemistry/genetics/metabolism
+MH - *RNA/chemistry/metabolism/genetics
MH - Ligands
MH - Humans
-MH - Photochemical Processes
MH - Ultraviolet Rays
+MH - Photochemical Processes
MH - *RNA-Binding Proteins/metabolism/chemistry
+MH - Light
PMC - PMC13110772
OTO - NOTNLM
OT - LLPS
diff --git a/data/literature/C9orf72_batch_01.txt b/data/literature/C9orf72_batch_01.txt
index 928a81ea..519ab4f2 100644
--- a/data/literature/C9orf72_batch_01.txt
+++ b/data/literature/C9orf72_batch_01.txt
@@ -1,18 +1,690 @@
+PMID- 42367691
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 1662-680X (Print)
+IS - 1662-680X (Electronic)
+IS - 1662-680X (Linking)
+VI - 18
+IP - 1
+DP - 2026 Jan-Dec
+TI - Chronic Inflammatory Demyelinating Polyradiculoneuropathy-Like Neuropathy in
+ Heterozygous C9orf72 Mutation: A Case Report.
+PG - 260-266
+LID - 10.1159/000552143 [doi]
+AB - INTRODUCTION: C9orf72 repeat expansion is usually associated with amyotrophic
+ lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS/FTD overlap. We
+ report an atypical neuromuscular presentation of C9orf72 repeat expansion. CASE
+ PRESENTATION: A 68-year-old patient developed a sensorimotor polyneuropathy with
+ slow continuous worsening over 3 years. Symptoms started in the left foot and
+ slowly extended to all four limbs. Nerve conduction studies were consistent with
+ a non-length-dependent predominantly axonal sensorimotor polyneuropathy, with
+ some additional demyelinating features (proximal temporal dispersion and F-wave
+ latency prolongation). Electro-clinical presentation fulfilled EAN/PNS 2021
+ criteria for CIDP, but the patient was not responsive to IVIg. RT-PCR revealed a
+ heterozygous pathogenic expansion of the C9orf72 gene. The patient's father and
+ brother died from ALS. At onset, his brother also had sensorimotor involvement
+ and was misdiagnosed with CIDP. CONCLUSION: This case may expand the phenotypic
+ spectrum associated with C9orf72 repeat expansion. The initial phenotype could be
+ a non-length-dependent sensorimotor polyneuropathy with demyelinating features
+ that potentially mimics CIDP.
+CI - (c) 2026 The Author(s). Published by S. Karger AG, Basel.
+FAU - Loser, Valentin
+AU - Loser V
+AD - Nerve Muscle Unit, Neurology Service, Department of Clinical Neurosciences,
+ Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
+FAU - Afanasiev, Vadim
+AU - Afanasiev V
+AD - Neurology Service, Sion Hospital, Centre Hospitalier du Valais Romand, Sion,
+ Switzerland.
+FAU - Vicino, Alex
+AU - Vicino A
+AD - Nerve Muscle Unit, Neurology Service, Department of Clinical Neurosciences,
+ Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
+FAU - Theaudin, Marie
+AU - Theaudin M
+AD - Nerve Muscle Unit, Neurology Service, Department of Clinical Neurosciences,
+ Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260428
+PL - Switzerland
+TA - Case Rep Neurol
+JT - Case reports in neurology
+JID - 101517693
+PMC - PMC13299152
+OTO - NOTNLM
+OT - C9orf72
+OT - Chronic inflammatory demyelinating polyradiculoneuropathy
+OT - Polyneuropathy
+COIS- The authors have no conflicts of interest to declare.
+EDAT- 2026/06/29 12:32
+MHDA- 2026/06/29 12:33
+PMCR- 2026/04/28
+CRDT- 2026/06/29 06:39
+PHST- 2026/01/22 00:00 [received]
+PHST- 2026/04/13 00:00 [accepted]
+PHST- 2026/06/29 12:33 [medline]
+PHST- 2026/06/29 12:32 [pubmed]
+PHST- 2026/06/29 06:39 [entrez]
+PHST- 2026/04/28 00:00 [pmc-release]
+AID - 552143 [pii]
+AID - 10.1159/000552143 [doi]
+PST - epublish
+SO - Case Rep Neurol. 2026 Apr 28;18(1):260-266. doi: 10.1159/000552143. eCollection
+ 2026 Jan-Dec.
+
+PMID- 42331066
+OWN - NLM
+STAT- Publisher
+LR - 20260626
+IS - 1879-2596 (Electronic)
+IS - 0167-4889 (Linking)
+VI - 1873
+IP - 6
+DP - 2026 Jun 22
+TI - Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from
+ iNPH patients show changes in energy metabolism but no cell pathologies.
+PG - 120177
+LID - S0167-4889(26)00075-3 [pii]
+LID - 10.1016/j.bbamcr.2026.120177 [doi]
+AB - Long C9orf72 hexanucleotide repeat expansions (C9-HRE) are the most common
+ genetic cause of frontotemporal dementia (FTD), a group of neurodegenerative
+ syndromes leading to cognitive dysfunction and frontal and temporal atrophy. FTD
+ is a potential comorbidity of idiopathic normal pressure hydrocephalus (iNPH) and
+ carrying the C9-HRE can modify the age-of-onset in iNPH patients. While
+ intermediate-length C9-HRE (<30 repeats) are often considered non-pathogenic, the
+ exact pathological cutoff is unclear. In this study, we assessed whether skin
+ fibroblasts from iNPH patients carrying intermediate C9-HRE display
+ C9-HRE-associated pathological hallmarks and changes in cellular function.
+ C9-HRE-associated RNA foci, present in the long (>60 repeats) C9-HRE carrier
+ fibroblasts, were not detected in those of the intermediate carriers. The number
+ of p62-positive puncta was significantly increased in long but not intermediate
+ C9-HRE carrier fibroblasts, in line with p62-positive intracellular inclusions
+ observed in a brain biopsy from the patient. Induction of autophagy did not
+ suggest any defects in the intermediate carrier fibroblasts. Fibroblasts from the
+ intermediate C9-HRE carriers showed upregulated glycolytic activity, possibly to
+ counteract the slightly reduced mitochondrial respiration. This could not be
+ observed in the long C9-HRE carrier fibroblasts. In conclusion, these data
+ suggest that while the long C9-HRE leads to more severe cellular pathologies than
+ intermediate C9-HRE, the latter might predispose cells to deficits in specific
+ cellular functions, such as energy metabolism.
+CI - Copyright (c) 2026 The Authors. Published by Elsevier B.V. All rights reserved.
+FAU - Hoffmann, Dorit
+AU - Hoffmann D
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address:
+ dorit.hoffmann@uef.fi.
+FAU - Korhonen, Ville
+AU - Korhonen V
+AD - Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland;
+ Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland,
+ Kuopio, Finland. Electronic address: ville.korhonen@uef.fi.
+FAU - Rostalski, Hannah
+AU - Rostalski H
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address:
+ hannah.rostalski@uef.fi.
+FAU - Huber, Nadine
+AU - Huber N
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address: nadine.huber@uef.fi.
+FAU - Heikkinen, Sami
+AU - Heikkinen S
+AD - Institute of Biomedicine, Yliopistonranta 1E, University of Eastern Finland,
+ 70211, Kuopio, Finland. Electronic address: sami.heikkinen@uef.fi.
+FAU - Hietanen, Tomi
+AU - Hietanen T
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address:
+ tomi.hietanen@uef.fi.
+FAU - Wittrahm, Rebekka
+AU - Wittrahm R
+AD - Institute of Biomedicine, Yliopistonranta 1E, University of Eastern Finland,
+ 70211, Kuopio, Finland; Department of Pathology, Rigshospitalet, Copenhagen
+ University Hospital, Copenhagen, Denmark. Electronic address:
+ rebekka.wittrahm@uef.fi.
+FAU - Leskela, Stina
+AU - Leskela S
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address:
+ stinal@student.uef.fi.
+FAU - Hartikainen, Paivi
+AU - Hartikainen P
+AD - Neuro Center, Neurology, Kuopio University Hospital, 70029, Kuopio, Finland.
+ Electronic address: paivi.hartikainen@kuh.fi.
+FAU - Rauramaa, Tuomas
+AU - Rauramaa T
+AD - Department of Clinical Pathology, Kuopio University Hospital, 70210, Kuopio,
+ Finland; Institute of Clinical Medicine - Clinical pathology and forensic
+ medicine, University of Eastern Finland, Yliopistonranta 1C, 70211, Kuopio,
+ Finland. Electronic address: tuomas.rauramaa@uef.fi.
+FAU - Solje, Eino
+AU - Solje E
+AD - Neuro Center, Neurology, Kuopio University Hospital, 70029, Kuopio, Finland;
+ Institute of Clinical Medicine - Neurology, University of Eastern Finland,
+ Yliopistonranta 1C, 70211 Kuopio, Finland. Electronic address: eino.solje@uef.fi.
+FAU - Portaankorva, Anne M
+AU - Portaankorva AM
+AD - Clinical Neurosciences, University of Helsinki, PL 63, (Haartmaninkatu 8), 00014,
+ Helsingin Yliopisto, Finland; Research Unit of Clinical Medicine, Neurology,
+ University of Oulu, Aapistie 5 A, 90220, Oulu, Finland. Electronic address:
+ anne.portaankorva@helsinki.fi.
+FAU - Hiltunen, Mikko
+AU - Hiltunen M
+AD - Institute of Biomedicine, Yliopistonranta 1E, University of Eastern Finland,
+ 70211, Kuopio, Finland. Electronic address: mikko.hiltunen@uef.fi.
+FAU - Leinonen, Ville
+AU - Leinonen V
+AD - Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland;
+ Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland,
+ Kuopio, Finland. Electronic address: ville.leinonen@kuh.fi.
+FAU - Haapasalo, Annakaisa
+AU - Haapasalo A
+AD - A. I. Virtanen Institute for Molecular Sciences, Neulaniementie 2, University of
+ Eastern Finland, 70211, Kuopio, Finland. Electronic address:
+ annakaisa.haapasalo@uef.fi.
+LA - eng
+PT - Journal Article
+DEP - 20260622
+PL - Netherlands
+TA - Biochim Biophys Acta Mol Cell Res
+JT - Biochimica et biophysica acta. Molecular cell research
+JID - 101731731
+SB - IM
+OTO - NOTNLM
+OT - Autophagy
+OT - C9orf72
+OT - Frontotemporal dementia
+OT - Glycolysis and mitochondrial respiration
+OT - Idiopathic normal pressure hydrocephalus
+OT - p62
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper.
+EDAT- 2026/06/22 21:07
+MHDA- 2026/06/22 21:07
+CRDT- 2026/06/22 19:31
+PHST- 2025/09/01 00:00 [received]
+PHST- 2026/05/25 00:00 [revised]
+PHST- 2026/06/20 00:00 [accepted]
+PHST- 2026/06/22 21:07 [pubmed]
+PHST- 2026/06/22 21:07 [medline]
+PHST- 2026/06/22 19:31 [entrez]
+AID - S0167-4889(26)00075-3 [pii]
+AID - 10.1016/j.bbamcr.2026.120177 [doi]
+PST - aheadofprint
+SO - Biochim Biophys Acta Mol Cell Res. 2026 Jun 22;1873(6):120177. doi:
+ 10.1016/j.bbamcr.2026.120177.
+
+PMID- 42316301
+OWN - NLM
+STAT- Publisher
+LR - 20260623
+IS - 2051-5960 (Electronic)
+IS - 2051-5960 (Linking)
+DP - 2026 Jun 18
+TI - Intrathecal (G(4)C(2))(149) delivery in C9orf72-deficient mice yields mild motor
+ dysfunction and ALS/FTD pathological hallmarks.
+LID - 10.1186/s40478-026-02341-8 [doi]
+AB - A repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic
+ lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet existing mouse
+ models incompletely engage spinal regions implicated in disease. Here, an
+ adeno-associated virus encoding (G(4)C(2))(149) repeats was delivered via
+ neonatal intrathecal injection, achieving widespread CNS expression with robust
+ spinal cord targeting. This approach was applied to mice with graded loss of
+ endogenous C9orf72 to interrogate both gain- and loss-of-function mechanisms.
+ Longitudinal motor, behavioral, and pathological analyses revealed that repeat
+ expression primarily drives mild, progressive muscle weakness, whereas
+ coordination deficits were largely genotype dependent. Subtle gait abnormalities
+ and hyperactivity were also observed. Within spinal motor regions,
+ repeat-expressing mice exhibited dipeptide repeat protein accumulation, reduced
+ NeuN-positive area, fewer motor neurons, glial activation, sparse phosphorylated
+ TDP-43 pathology, and increased cryptic TDP-43 splicing. Cross-domain
+ correlations further linked repeat expression, spinal pathology, and motor
+ dysfunction. Collectively, these findings establish that CNS-wide repeat
+ expression combined with reduced C9orf72 produces a coherent, mild ALS/FTD model.
+CI - (c) 2026. The Author(s).
+FAU - Russell, Katelyn A
+AU - Russell KA
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+AD - Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+FAU - Shahrabi, Amelia A
+AU - Shahrabi AA
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+AD - Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+FAU - Akerman, Suleyman C
+AU - Akerman SC
+AD - Department of Neurology, Johns Hopkins University School of Medicine, Baltimore,
+ MD, 21205, USA.
+AD - Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore,
+ MD, 21205, USA.
+FAU - Byrne, Matthew D
+AU - Byrne MD
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+FAU - Rothstein, Jeffrey D
+AU - Rothstein JD
+AD - Department of Neurology, Johns Hopkins University School of Medicine, Baltimore,
+ MD, 21205, USA.
+AD - Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore,
+ MD, 21205, USA.
+FAU - Trotti, Davide
+AU - Trotti D
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+AD - Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+FAU - Jensen, Brigid K
+AU - Jensen BK
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+AD - Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+FAU - Haeusler, Aaron R
+AU - Haeusler AR
+AD - Department of Neuroscience, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+ aaron.haeusler@jefferson.edu.
+AD - Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience,
+ Thomas Jefferson University, Philadelphia, PA, 19107, USA.
+ aaron.haeusler@jefferson.edu.
+LA - eng
+GR - R01NS109150/NS/NINDS NIH HHS/United States
+GR - RF1NS114128/NS/NINDS NIH HHS/United States
+PT - Journal Article
+DEP - 20260618
+PL - England
+TA - Acta Neuropathol Commun
+JT - Acta neuropathologica communications
+JID - 101610673
+SB - IM
+UOF - bioRxiv. 2026 Feb 11:2026.02.09.704060. doi: 10.64898/2026.02.09.704060. PMID:
+ 41727102
+OTO - NOTNLM
+OT - ALS
+OT - ALS/FTD
+OT - C9orf72
+OT - C9orf72 repeat expansions
+OT - FTD
+OT - Motor neuron disease
+OT - Mouse models
+OT - Neurodegenerative disease
+COIS- Declarations. Ethics approval and consent to participate: Not applicable. Consent
+ for publication: All of the authors have read and approved the manuscript.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/19 06:33
+MHDA- 2026/06/19 06:33
+CRDT- 2026/06/19 00:16
+PHST- 2026/02/11 00:00 [received]
+PHST- 2026/06/01 00:00 [accepted]
+PHST- 2026/06/19 06:33 [medline]
+PHST- 2026/06/19 06:33 [pubmed]
+PHST- 2026/06/19 00:16 [entrez]
+AID - 10.1186/s40478-026-02341-8 [pii]
+AID - 10.1186/s40478-026-02341-8 [doi]
+PST - aheadofprint
+SO - Acta Neuropathol Commun. 2026 Jun 18. doi: 10.1186/s40478-026-02341-8.
+
+PMID- 42314891
+OWN - NLM
+STAT- Publisher
+LR - 20260624
+IS - 1879-0003 (Electronic)
+IS - 0141-8130 (Linking)
+VI - 372
+DP - 2026 Jun 18
+TI - Folding pathways and force-induced unfolding of neurodegeneration associated
+ GGGGCC microsatellite repeat RNA revealed by molecular simulations.
+PG - 153101
+LID - S0141-8130(26)03028-X [pii]
+LID - 10.1016/j.ijbiomac.2026.153101 [doi]
+AB - An intronic G4C2 hexanucleotide repeat expansion in the C9orf72 gene causes
+ amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). G4C2 RNA
+ itself directly contributes to disease mechanisms and has emerged as a potential
+ target for small molecules, anti-sense oligonucleotides (ASOs), and CRISPR-based
+ therapeutics. Hence, understanding the folding/unfolding and structural
+ polymorphism is essential for G4C2 RNA-targeting therapies. Here, using
+ equilibrium all-atom molecular dynamics (MD) simulations, we explored potential
+ intermediate metastable conformations of the G4C2 RNA repeats and investigated
+ the effect of repeat length on folding. G4C2 RNA undergoes an ensemble of
+ intermediate metastable states resembling hairpin, knot, and a G-quadruplex (GQ)
+ like structures. Enhanced torsional flexibility and conformational heterogeneity
+ were observed with increasing repeat length. Next, using a crystallized G4C2 RNA
+ structure in GQ conformation, we performed equilibrium MD simulations to reveal
+ its thermodynamic stability. Steered molecular dynamics (SMD) simulations with a
+ reduced model of G4C2 GQ uncover two distinct unfolding mechanisms along the
+ chosen reaction coordinates: strand slippage and unzipping. Overall, our findings
+ provide molecular-level insights into the folding and force-induced unfolding
+ dynamics of G4C2 repeat RNA GQ and set a platform for future studies on
+ small-molecule targeting of ALS/FTD-associated G4C2 RNA.
+CI - Copyright (c) 2026 Elsevier B.V. All rights reserved.
+FAU - Yadav, Priyanka
+AU - Yadav P
+AD - Department of Biotechnology, Indian Institute of Technology Hyderabad, Kandi,
+ Sangareddy, 502284, Telangana, India.
+FAU - Malik, Indranil
+AU - Malik I
+AD - Department of Biotechnology, Indian Institute of Technology Hyderabad, Kandi,
+ Sangareddy, 502284, Telangana, India. Electronic address: indranil@bt.iith.ac.in.
+FAU - Joshi, Himanshu
+AU - Joshi H
+AD - Department of Biotechnology, Indian Institute of Technology Hyderabad, Kandi,
+ Sangareddy, 502284, Telangana, India. Electronic address: hjoshi@bt.iith.ac.in.
+LA - eng
+PT - Journal Article
+DEP - 20260618
+PL - Netherlands
+TA - Int J Biol Macromol
+JT - International journal of biological macromolecules
+JID - 7909578
+SB - IM
+OTO - NOTNLM
+OT - G-quadruplex
+OT - Molecular dynamics
+OT - RNA folding
+OT - Repeat-sequence
+COIS- Declaration of competing interest The authors declare that they have no known
+ competing financial interests or personal relationships that could have appeared
+ to influence the work reported in this paper.
+EDAT- 2026/06/19 00:36
+MHDA- 2026/06/19 00:36
+CRDT- 2026/06/18 19:31
+PHST- 2026/04/09 00:00 [received]
+PHST- 2026/06/05 00:00 [revised]
+PHST- 2026/06/17 00:00 [accepted]
+PHST- 2026/06/19 00:36 [pubmed]
+PHST- 2026/06/19 00:36 [medline]
+PHST- 2026/06/18 19:31 [entrez]
+AID - S0141-8130(26)03028-X [pii]
+AID - 10.1016/j.ijbiomac.2026.153101 [doi]
+PST - aheadofprint
+SO - Int J Biol Macromol. 2026 Jun 18;372:153101. doi: 10.1016/j.ijbiomac.2026.153101.
+
+PMID- 42302493
+OWN - NLM
+STAT- Publisher
+LR - 20260616
+IS - 0150-9861 (Print)
+IS - 0150-9861 (Linking)
+VI - 53
+IP - 5
+DP - 2026 Jun 16
+TI - Orbitofrontal atrophy on MRI appears to be an indicator of C9orf72 repeat
+ expansion status in FTD.
+PG - 101575
+LID - S0150-9861(26)00162-8 [pii]
+LID - 10.1016/j.neurad.2026.101575 [doi]
+AB - Frontotemporal dementia (FTD) is an important group of neurodegenerative diseases
+ causing early onset dementia. While FTD is mostly sporadic, a common cause of
+ genetic FTD is the C9orf72 hexanucleotide repeat expansion (C9exp). To date, no
+ imaging biomarkers have been identified for differentiating between sporadic and
+ hereditary cases. In this study, we focused on MRI-based neuroanatomical
+ comparisons between FTD subtypes bvFTD and nfvPPA, as well as the C9exp status,
+ to identify potential imaging biomarkers. Fifty-six patients with FTD (43 bvFTD
+ and 13 nfvPPA) underwent clinical evaluation and magnetic resonance imaging (MRI)
+ at 1,5T and 3,0T The genetically analysed subgroup consisted of 13 C9exp
+ -positive and 22 C9exp -negative cases. cNeuro(R) cMRI software was used for
+ comprehensive voxel-based morphometry (VBM) analyses of the MRI images for
+ multiple brain regions, structures and their volumes. Our results show that
+ orbitofrontal volumes, particularly of the right anterior and posterior orbital
+ gyri, demonstrate high sensitivity (90,9-100%) and specificity (76,9%) in
+ differentiating C9exp cases from sporadic FTD. Furthermore, we elucidated and
+ corroborated several statistically significant volumetric differences in multiple
+ brain regions between the FTD subtypes of bvFTD and nfvPPA, such as asymmetrical,
+ right-sided atrophy in the former. This is the first demonstration that
+ C9exp-positive FTD cases can be reliably differentiated from sporadic cases based
+ solely on MRI atrophy patterns. Furthermore, we corroborate several
+ diagnostically significant volumetric differences in brain regions between bvFTD
+ and nfvPPA variants, providing evidence that advanced brain morphometry
+ techniques constitute a valuable tool for identifying even more FTD subtypes.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier Masson SAS.. All rights
+ reserved.
+FAU - Yli-Anttila, Niko
+AU - Yli-Anttila N
+AD - Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland;
+ Institute of Clinical Medicine - Radiology, University of Eastern Finland,
+ Kuopio, Finland.
+FAU - Solje, Eino
+AU - Solje E
+AD - Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland; Institute
+ of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland.
+FAU - Aho, Kalle
+AU - Aho K
+AD - Institute of Clinical Medicine - Neurology, University of Eastern Finland,
+ Kuopio, Finland.
+FAU - Katisko, Kasper
+AU - Katisko K
+AD - Institute of Clinical Medicine - Neurology, University of Eastern Finland,
+ Kuopio, Finland.
+FAU - Kivisild, Ave
+AU - Kivisild A
+AD - Institute of Clinical Medicine - Neurology, University of Eastern Finland,
+ Kuopio, Finland.
+FAU - Soppela, Helmi
+AU - Soppela H
+AD - Institute of Clinical Medicine - Neurology, University of Eastern Finland,
+ Kuopio, Finland.
+FAU - Kruger, Johanna
+AU - Kruger J
+AD - Research Unit of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland;
+ Neurocenter, Neurology, Oulu University Hospital, Oulu, Finland; Medical Research
+ Center, Oulu University Hospital, Oulu, Finland.
+FAU - Hartikainen, Paivi
+AU - Hartikainen P
+AD - Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland.
+FAU - Lotjonen, Jyrki
+AU - Lotjonen J
+AD - Combinostics Ltd., Tampere, Finland.
+FAU - Hakumaki, Juhana
+AU - Hakumaki J
+AD - Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland;
+ Institute of Clinical Medicine - Radiology, University of Eastern Finland,
+ Kuopio, Finland. Electronic address: juhana.hakumaki@uef.fi.
+LA - eng
+PT - Journal Article
+DEP - 20260616
+PL - France
+TA - J Neuroradiol
+JT - Journal of neuroradiology = Journal de neuroradiologie
+JID - 7705086
+SB - IM
+OTO - NOTNLM
+OT - C9orf72
+OT - Frontotemporal dementia
+OT - MRI
+OT - VBM
+OT - Voxel-based morphometry
+OT - bvFTD
+OT - nfvPPA
+COIS- Declaration of competing interest E. Solje has served on the advisory board of
+ Novartis, EISAI and Roche, served as a consult for Novo Nordisk and received
+ honoraria from for lectures from Lundbeck and Roche. J. Kruger has served on the
+ advisory boards of Novartis, EISAI, Nutricia, and Roche, and received support for
+ attending a congress from Merck. J. Lotjonen is a shareholder at Combinostics Oy.
+EDAT- 2026/06/17 00:36
+MHDA- 2026/06/17 00:36
+CRDT- 2026/06/16 18:05
+PHST- 2025/08/07 00:00 [received]
+PHST- 2026/05/23 00:00 [revised]
+PHST- 2026/06/03 00:00 [accepted]
+PHST- 2026/06/17 00:36 [medline]
+PHST- 2026/06/17 00:36 [pubmed]
+PHST- 2026/06/16 18:05 [entrez]
+AID - S0150-9861(26)00162-8 [pii]
+AID - 10.1016/j.neurad.2026.101575 [doi]
+PST - aheadofprint
+SO - J Neuroradiol. 2026 Jun 16;53(5):101575. doi: 10.1016/j.neurad.2026.101575.
+
+PMID- 42296226
+OWN - NLM
+STAT- Publisher
+LR - 20260615
+IS - 2167-9223 (Electronic)
+IS - 2167-8421 (Linking)
+DP - 2026 Jun 15
+TI - Innate immune signaling as a potential pathomechanistic biomarker for distinct
+ subtypes in amyotrophic lateral sclerosis.
+PG - 1-8
+LID - 10.1080/21678421.2026.2663910 [doi]
+AB - Stimulation of the innate immune system has been implicated in ALS and
+ particularly in distinct monogenic forms of ALS. To address whether this is of
+ diagnostic value, we performed a proof-of concept study using qPCR to assess the
+ Interferon score in blood samples of genetic ALS. 56.5% of genetic ALS patients
+ showed significant IFN activation, highest in C9orf72HRE patients (77.3%). About
+ half of FUS-ALS (52.2%), but none of SOD1-ALS patients demonstrated pathological
+ IFN scores. The IFN score significantly correlated with the ALSFRS-R slope and
+ inversely with the time to severe event as a survival surrogate in this genetic
+ ALS cohort. IFN + patients were more likely to be male, showed more rapid disease
+ progression and higher neurofilament levels. The IFN score might have the
+ potential as a stratification and readout tool for biomarker-guided
+ individualized therapy in ALS.
+FAU - Naumann, Marcel
+AU - Naumann M
+AD - Translational Neurodegeneration Section "Albrecht Kossel", Department of
+ Neurology, University Medical Center Rostock, University of Rostock, Rostock,
+ Germany.
+FAU - Kretschmer, Stefanie
+AU - Kretschmer S
+AD - Department of Pediatrics, Medizinische Fakultat Carl Gustav Carus, Technische
+ Universitat Dresden, Dresden, Germany.
+FAU - Dorst, Johannes
+AU - Dorst J
+AD - Department of Neurology, University Hospital Ulm, Ulm, Germany.
+FAU - Lapp, Hanna
+AU - Lapp H
+AD - Department of Neurology, Technische Universitat Dresden, Dresden, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany.
+FAU - Peikert, Kevin
+AU - Peikert K
+AD - Translational Neurodegeneration Section "Albrecht Kossel", Department of
+ Neurology, University Medical Center Rostock, University of Rostock, Rostock,
+ Germany.
+AD - Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical
+ Center Rostock, University of Rostock, Rostock, Germany.
+FAU - Petri, Susanne
+AU - Petri S
+AD - Department of Neurology and Clinical Neurophysiology, DIAKOVERE Henriettenstift,
+ Hannover, Germany, and Department of Neurology, Hannover Medical School,
+ Hannover, Germany.
+FAU - Gess, Burkhard
+AU - Gess B
+AD - Department of Neurology, Evangelisches Klinikum Bethel, University Hospital OWL
+ of the University Bielefeld, Campus Bielefeld-Bethel, Bielefeld, Germany.
+FAU - Wolf, Christine
+AU - Wolf C
+AD - Department of Pediatrics, Medizinische Fakultat Carl Gustav Carus, Technische
+ Universitat Dresden, Dresden, Germany.
+FAU - Rodiger, Annekathrin
+AU - Rodiger A
+AD - Department of Neurology, Jena University Hospital, Jena, Germany.
+AD - Center for Rare Diseases, Jena University Hospital, Jena Germany.
+FAU - Smesny, Uta
+AU - Smesny U
+AD - Department of Neurology, Jena University Hospital, Jena, Germany.
+FAU - Pan-Montojo, Francisco
+AU - Pan-Montojo F
+AD - Department of Psychiatry and Psychotherapy at the Klinikum LMU, Munich, Germany
+ and Neurologische Klinik Sorpesee, Sundern, Germany.
+FAU - Kerschen, Philippe
+AU - Kerschen P
+AD - Service de Neurologie, Centre Hospitalier Luxembourg, Luxembourg-Ville,
+ Luxembourg.
+FAU - Grehl, Torsten
+AU - Grehl T
+AD - Department of Neurology, Alfried Krupp Hospital, Essen, Germany.
+FAU - Prudlo, Johannes
+AU - Prudlo J
+AD - Translational Neurodegeneration Section "Albrecht Kossel", Department of
+ Neurology, University Medical Center Rostock, University of Rostock, Rostock,
+ Germany.
+AD - Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical
+ Center Rostock, University of Rostock, Rostock, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock,
+ Germany.
+FAU - Regensburger, Martin
+AU - Regensburger M
+AUID- ORCID: 0000-0002-2172-7386
+AD - Department of Molecular Neurology, Friedrich-Alexander-Universitat
+ Erlangen-Nurnberg, Erlangen, Germany.
+FAU - Ludolph, Albert
+AU - Ludolph A
+AD - Department of Neurology, University Hospital Ulm, Ulm, Germany.
+FAU - Gunther, Rene
+AU - Gunther R
+AD - Department of Neurology, Technische Universitat Dresden, Dresden, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany.
+FAU - Brenner, David
+AU - Brenner D
+AD - Department of Neurology, University Hospital Ulm, Ulm, Germany.
+AD - Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare
+ Diseases, Ulm, Germany.
+AD - German Centre for Neurodegenerative Diseases (DZNE) Site Ulm, Ulm, Germany.
+FAU - Lee-Kirsch, Min Ae
+AU - Lee-Kirsch MA
+AD - Department of Pediatrics, Medizinische Fakultat Carl Gustav Carus, Technische
+ Universitat Dresden, Dresden, Germany.
+AD - German Center for Child and Adolescent Health (DZKJ), partner site
+ Leipzig/Dresden, Dresden, Germany, and.
+AD - University Center for Rare Diseases, University Hospital and Medical Faculty Carl
+ Gustav Carus, Dresden University of Technology, Dresden, Germany.
+FAU - Hermann, Andreas
+AU - Hermann A
+AUID- ORCID: 0000-0002-7364-7791
+AD - Translational Neurodegeneration Section "Albrecht Kossel", Department of
+ Neurology, University Medical Center Rostock, University of Rostock, Rostock,
+ Germany.
+AD - Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical
+ Center Rostock, University of Rostock, Rostock, Germany.
+AD - German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock,
+ Germany.
+LA - eng
+PT - Journal Article
+DEP - 20260615
+PL - England
+TA - Amyotroph Lateral Scler Frontotemporal Degener
+JT - Amyotrophic lateral sclerosis & frontotemporal degeneration
+JID - 101587185
+SB - IM
+OTO - NOTNLM
+OT - C9orf72 hexanucleotide repeat expansion
+OT - Pathogen-associated molecular patterns (PAMPs)
+OT - interferon score (IFN score)
+OT - interferon type 1
+OT - neurofilament heavy chain
+EDAT- 2026/06/15 18:34
+MHDA- 2026/06/15 18:34
+CRDT- 2026/06/15 14:13
+PHST- 2026/06/15 18:34 [medline]
+PHST- 2026/06/15 18:34 [pubmed]
+PHST- 2026/06/15 14:13 [entrez]
+AID - 10.1080/21678421.2026.2663910 [doi]
+PST - aheadofprint
+SO - Amyotroph Lateral Scler Frontotemporal Degener. 2026 Jun 15:1-8. doi:
+ 10.1080/21678421.2026.2663910.
+
PMID- 42222887
OWN - NLM
STAT- MEDLINE
DCOM- 20260601
-LR - 20260601
+LR - 20260624
IS - 1558-8238 (Electronic)
+IS - 0021-9738 (Print)
IS - 0021-9738 (Linking)
VI - 136
IP - 11
DP - 2026 Jun 1
TI - Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for
amyotrophic lateral sclerosis diagnosis and progression.
-LID - e191508 [pii]
LID - 10.1172/JCI191508 [doi]
+LID - e191508
AB - The role of the epigenome in age-related neurodegenerative disorders remains
understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to
detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis
@@ -102,6 +774,7 @@ AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine
California, USA.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260601
PL - United States
TA - J Clin Invest
@@ -113,6 +786,8 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
RN - 0 (Neurofilament Proteins)
SB - IM
+UOF - bioRxiv. 2026 Mar 23:2026.03.20.711195. doi: 10.64898/2026.03.20.711195. PMID:
+ 41928938
MH - Humans
MH - *Amyotrophic Lateral Sclerosis/genetics/diagnosis/blood
MH - *Cell-Free Nucleic Acids/genetics/blood/cerebrospinal fluid
@@ -127,20 +802,24 @@ MH - Middle Aged
MH - Aged
MH - Neurofilament Proteins/cerebrospinal fluid
MH - Adult
+PMC - PMC13221225
OTO - NOTNLM
OT - Biomarkers
OT - Epigenetics
OT - Genetics
OT - Neurodegeneration
OT - Neuroscience
+COIS- The authors have declared that no conflicts of interest exist.
EDAT- 2026/06/01 12:38
MHDA- 2026/06/01 12:39
+PMCR- 2026/06/01
CRDT- 2026/06/01 06:19
PHST- 2025/01/22 00:00 [received]
PHST- 2026/03/24 00:00 [accepted]
PHST- 2026/06/01 12:39 [medline]
PHST- 2026/06/01 12:38 [pubmed]
PHST- 2026/06/01 06:19 [entrez]
+PHST- 2026/06/01 00:00 [pmc-release]
AID - 191508 [pii]
AID - 10.1172/JCI191508 [doi]
PST - epublish
@@ -336,121 +1015,6 @@ PST - epublish
SO - Front Neurosci. 2026 May 13;20:1814072. doi: 10.3389/fnins.2026.1814072.
eCollection 2026.
-PMID- 42160515
-OWN - NLM
-STAT- MEDLINE
-DCOM- 20260520
-LR - 20260524
-IS - 2164-554X (Electronic)
-IS - 2164-5515 (Print)
-IS - 2164-5515 (Linking)
-VI - 22
-IP - 1
-DP - 2026 Dec
-TI - Immunotherapeutic landscape of amyotrophic lateral sclerosis: A bibliometric
- analysis of research trends, translational priorities, and collaboration networks
- (2006-2025).
-PG - 2664985
-LID - 10.1080/21645515.2026.2664985 [doi]
-LID - 2664985
-AB - Amyotrophic lateral sclerosis (ALS) remains a major therapeutic challenge, with
- immune dysregulation increasingly recognized as a critical driver of disease
- progression. Despite extensive mechanistic research, no immunotherapeutic
- approach has achieved consistent disease-modifying effects, raising questions
- about whether this translational gap reflects biological complexity or structural
- misalignment within the research ecosystem. To characterize the intellectual
- evolution of ALS immunotherapeutics research, identify immune targets with
- translational potential, and evaluate collaboration patterns that may influence
- translational efficiency, we performed a bibliometric analysis of 2,256
- publications indexed in Web of Science and Scopus using network-based approaches
- including co-citation clustering, keyword co-occurrence, and citation burst
- detection implemented in CiteSpace, VOSviewer, and R-Bibliometrix. Publication
- output increased 8.4-fold over the study period, delineating three developmental
- phases. Thematic analyses revealed a shift from early emphasis on microglial
- biology and SOD1-based models toward recent focus areas including the gut-brain
- axis, C9orf72-associated immune dysregulation, and advanced immunomodulatory
- strategies. Collaboration networks remain predominantly regional despite strong
- contributions from the United States, Europe, and Asia, with limited integration
- between mechanistic research groups and clinical trial consortia. Among
- immune-directed therapeutic strategies, regulatory T cell modulation and
- microglial-targeted approaches exhibit the highest translational readiness. These
- findings suggest that the lack of effective ALS immunotherapeutics reflects not
- only biological complexity but also structural and strategic misalignment within
- the research ecosystem. This bibliometric analysis provides a systems-level
- framework to guide more integrated translational strategies in ALS
- immunotherapeutics development.
-FAU - Zhang, Ming
-AU - Zhang M
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-FAU - Yang, Wenshuo
-AU - Yang W
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-FAU - Wang, Junxin
-AU - Wang J
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-FAU - Zou, Biqi
-AU - Zou B
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-FAU - Zheng, Jialin C
-AU - Zheng JC
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-AD - Shanghai Frontiers Science Center of Nanocatalytic Medicine, Tongji University,
- Shanghai, China.
-FAU - Wu, Qihui
-AU - Wu Q
-AD - Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,
- Clinical Research Center for Anesthesiology and Perioperative Medicine,
- Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai
- Fourth People's Hospital Affiliated to Tongji University School of Medicine,
- Shanghai Research Institute for Intelligent Autonomous Systems, State Key
- Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital,
- School of Medicine, Tongji University, Shanghai, China.
-FAU - Gao, Ge
-AU - Gao G
-AD - Center for Translational Neurodegeneration and Regenerative Therapy, Tongji
- Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
-LA - eng
-PT - Journal Article
-DEP - 20260520
-PL - United States
-TA - Hum Vaccin Immunother
-JT - Human vaccines & immunotherapeutics
-JID - 101572652
-SB - IM
-MH - *Amyotrophic Lateral Sclerosis/therapy/immunology
-MH - Humans
-MH - *Bibliometrics
-MH - *Immunotherapy/methods/trends
-MH - *Translational Research, Biomedical/trends
-MH - Animals
-PMC - PMC13196659
-OTO - NOTNLM
-OT - Amyotrophic lateral sclerosis
-OT - C9orf72 repeat expansion
-OT - clinical translation
-OT - immunotherapeutics
-OT - neuroinflammation
-OT - regulatory T cells
-COIS- No potential conflict of interest was reported by the author(s).
-EDAT- 2026/05/20 18:33
-MHDA- 2026/05/20 18:34
-PMCR- 2026/05/20
-CRDT- 2026/05/20 15:03
-PHST- 2026/05/20 18:34 [medline]
-PHST- 2026/05/20 18:33 [pubmed]
-PHST- 2026/05/20 15:03 [entrez]
-PHST- 2026/05/20 00:00 [pmc-release]
-AID - 2664985 [pii]
-AID - 10.1080/21645515.2026.2664985 [doi]
-PST - ppublish
-SO - Hum Vaccin Immunother. 2026 Dec;22(1):2664985. doi:
- 10.1080/21645515.2026.2664985. Epub 2026 May 20.
-
PMID- 42158267
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -1216,15 +1780,19 @@ SO - Front Aging Neurosci. 2026 Apr 21;18:1792887. doi: 10.3389/fnagi.2026.1792
PMID- 42087256
OWN - NLM
-STAT- Publisher
-LR - 20260505
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260616
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
+VI - 14
+IP - 1
DP - 2026 May 5
TI - Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration
in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic
lateral sclerosis.
LID - 10.1186/s40478-026-02301-2 [doi]
+LID - 124
AB - Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal,
early-onset neurodegenerative diseases. The most common genetic cause of FTD and
ALS is a G4C2 hexanucleotide repeat expansion in the C9orf72 gene. This mutation
@@ -1314,10 +1882,9 @@ AD - Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK.
r.j.west@sheffield.ac.uk.
LA - eng
GR - 630/Alzheimer's Society and The Heather Corrie Impact Fund/
+GR - NIH R35 NS122140/National Institutes of Health (NIH)/
GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
GR - Livesey/Oct20/900-792/MNDA_/Motor Neurone Disease Association/United Kingdom
-GR - NIH R35 NS122140/National Institutes of Health (NIH)/
-GR - NIH R35 NS122140/National Institutes of Health (NIH)/
GR - 510/ALZS_/Alzheimer's Society/United Kingdom
PT - Journal Article
DEP - 20260505
@@ -1325,7 +1892,26 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (C9orf72 Protein)
+RN - 0 (Ataxin-2)
+RN - 0 (ATX2 protein, Drosophila)
+RN - 0 (Drosophila Proteins)
+RN - 0 (C9orf72 protein, human)
SB - IM
+MH - Animals
+MH - *C9orf72 Protein/genetics/metabolism
+MH - *Amyotrophic Lateral Sclerosis/genetics/pathology/metabolism
+MH - Integrated Stress Response
+MH - *Frontotemporal Dementia/genetics/pathology/metabolism
+MH - *Ataxin-2/genetics/metabolism
+MH - Disease Models, Animal
+MH - Humans
+MH - DNA Repeat Expansion
+MH - Animals, Genetically Modified
+MH - Drosophila
+MH - Drosophila Proteins/genetics/metabolism
+MH - Stress Granules/metabolism
+PMC - PMC13251143
OTO - NOTNLM
OT - Drosophila
OT - Amyotrophic lateral sclerosis
@@ -1339,23 +1925,26 @@ COIS- Declarations. Ethics approval and consent to participate: Not applicable.
for publication: Not applicable. Competing interests: The authors declare no
competing interests.
EDAT- 2026/05/06 00:33
-MHDA- 2026/05/06 00:33
+MHDA- 2026/06/15 11:31
+PMCR- 2026/05/05
CRDT- 2026/05/05 23:55
PHST- 2025/06/19 00:00 [received]
PHST- 2026/04/17 00:00 [accepted]
-PHST- 2026/05/06 00:33 [medline]
+PHST- 2026/06/15 11:31 [medline]
PHST- 2026/05/06 00:33 [pubmed]
PHST- 2026/05/05 23:55 [entrez]
+PHST- 2026/05/05 00:00 [pmc-release]
AID - 10.1186/s40478-026-02301-2 [pii]
+AID - 2301 [pii]
AID - 10.1186/s40478-026-02301-2 [doi]
-PST - aheadofprint
-SO - Acta Neuropathol Commun. 2026 May 5. doi: 10.1186/s40478-026-02301-2.
+PST - epublish
+SO - Acta Neuropathol Commun. 2026 May 5;14(1):124. doi: 10.1186/s40478-026-02301-2.
PMID- 42033225
OWN - NLM
STAT- MEDLINE
-DCOM- 20260425
-LR - 20260428
+DCOM- 20260622
+LR - 20260622
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -1450,23 +2039,20 @@ PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
JID - 0411011
-RN - 0 (C9orf72 Protein)
RN - 0 (Oligonucleotides, Antisense)
-RN - 0 (C9orf72 protein, human)
+RN - 0 (C9orf72 Protein)
RN - 284SYP0193 (Fluorine)
+RN - 0 (C9orf72 protein, human)
RN - 63231-63-0 (RNA)
SB - IM
-MH - *C9orf72 Protein/genetics/antagonists & inhibitors
-MH - *Oligonucleotides, Antisense/chemistry/genetics/pharmacology
MH - Humans
+MH - *Oligonucleotides, Antisense/chemistry
+MH - *C9orf72 Protein/genetics
+MH - *Fluorine/chemistry
MH - *DNA Repeat Expansion
-MH - Amyotrophic Lateral Sclerosis/genetics/therapy
-MH - Frontotemporal Dementia/genetics
+MH - *RNA/chemistry/metabolism/genetics
+MH - Amyotrophic Lateral Sclerosis/genetics
MH - Nucleic Acid Conformation
-MH - Halogenation
-MH - Fluorine/chemistry
-MH - Protein Biosynthesis
-MH - RNA/genetics/chemistry
PMC - PMC13109722
COIS- None declared.
EDAT- 2026/04/26 05:11
@@ -1698,8 +2284,8 @@ SO - bioRxiv [Preprint]. 2026 Apr 15:2026.04.10.717804. doi:
PMID- 41987036
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260622
+LR - 20260622
IS - 1528-3658 (Electronic)
IS - 1076-1551 (Print)
IS - 1076-1551 (Linking)
@@ -1853,8 +2439,8 @@ SO - Mol Med. 2026 Apr 15;32(1):81. doi: 10.1186/s10020-026-01465-w.
PMID- 41986690
OWN - NLM
STAT- MEDLINE
-DCOM- 20260514
-LR - 20260517
+DCOM- 20260622
+LR - 20260622
IS - 1546-1718 (Electronic)
IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
@@ -2035,23 +2621,15 @@ JT - Nature genetics
JID - 9216904
RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
-RN - EC 3.6.4.2 (Cytoplasmic Dyneins)
SB - IM
MH - Humans
-MH - *Amyotrophic Lateral Sclerosis/genetics/pathology
-MH - *Frontotemporal Dementia/genetics/pathology
+MH - *Amyotrophic Lateral Sclerosis/genetics
+MH - *Frontotemporal Dementia/genetics
+MH - *Mutation
MH - *Mosaicism
-MH - *Mutation/genetics
-MH - Female
MH - C9orf72 Protein/genetics
-MH - Male
-MH - Middle Aged
-MH - Aged
-MH - Cytoplasmic Dyneins/genetics
-MH - Genetic Predisposition to Disease
-MH - DNA Repeat Expansion
+MH - Brain/pathology
MH - High-Throughput Nucleotide Sequencing
-MH - Brain/pathology/metabolism
PMC - PMC13175891
COIS- Competing interests: C.L.-T. serves on the scientific advisory board and/or has
received consulting fees from SOLA Biosciences, Libra Therapeutics, Arbor
@@ -2084,8 +2662,8 @@ SO - Nat Genet. 2026 May;58(5):1019-1029. doi: 10.1038/s41588-026-02570-6. Epub
PMID- 41961863
OWN - NLM
STAT- MEDLINE
-DCOM- 20260410
-LR - 20260412
+DCOM- 20260622
+LR - 20260622
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 21
@@ -2177,12 +2755,9 @@ MH - *C9orf72 Protein/genetics
MH - *Amyotrophic Lateral Sclerosis/genetics/drug therapy/pathology
MH - Disease Models, Animal
MH - Gene Knockout Techniques
-MH - Humans
-MH - CRISPR-Cas Systems
-MH - Motor Neurons/pathology/metabolism
-MH - Larva
+MH - Motor Neurons/metabolism/pathology/drug effects
MH - Animals, Genetically Modified
-MH - Phenotype
+MH - Humans
PMC - PMC13068224
COIS- The authors have declared that no competing interests exist.
EDAT- 2026/04/10 18:32
@@ -2203,14 +2778,18 @@ SO - PLoS One. 2026 Apr 10;21(4):e0346613. doi: 10.1371/journal.pone.0346613.
PMID- 41957010
OWN - NLM
-STAT- Publisher
-LR - 20260409
+STAT- PubMed-not-MEDLINE
+DCOM- 20260607
+LR - 20260607
IS - 2056-7944 (Electronic)
IS - 2056-7944 (Linking)
+VI - 11
+IP - 1
DP - 2026 Apr 9
TI - Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale
study of rare variants and repeat expansions.
LID - 10.1038/s41525-026-00567-y [doi]
+LID - 33
AB - Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes.
In clinical practice, however, non-genetic causes are rare. The most common
genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease
@@ -2343,18 +2922,6 @@ AD - Unit of Neurodegenerative Diseases, Department of Neurology, University Ho
Germans Trias i Pujol Badalona, Barcelona, Spain. pastorpau@gmail.com.
CN - Spanish Study Group for Genetics of Chorea members
LA - eng
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
Services/
PT - Journal Article
@@ -2363,22 +2930,26 @@ PL - England
TA - NPJ Genom Med
JT - NPJ genomic medicine
JID - 101685193
+PMC - PMC13243629
COIS- Competing interests: The authors declare no competing interests by P.P. received
honoraria from Lilly. The remaining authors declare no competing interests.
FIR - Pastor, Pau
IR - Pastor P
EDAT- 2026/04/10 00:33
-MHDA- 2026/04/10 00:33
+MHDA- 2026/04/10 00:34
+PMCR- 2026/04/09
CRDT- 2026/04/09 23:16
PHST- 2025/07/01 00:00 [received]
PHST- 2026/03/19 00:00 [accepted]
-PHST- 2026/04/10 00:33 [medline]
+PHST- 2026/04/10 00:34 [medline]
PHST- 2026/04/10 00:33 [pubmed]
PHST- 2026/04/09 23:16 [entrez]
+PHST- 2026/04/09 00:00 [pmc-release]
AID - 10.1038/s41525-026-00567-y [pii]
+AID - 567 [pii]
AID - 10.1038/s41525-026-00567-y [doi]
-PST - aheadofprint
-SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
+PST - epublish
+SO - NPJ Genom Med. 2026 Apr 9;11(1):33. doi: 10.1038/s41525-026-00567-y.
PMID- 41951733
OWN - NLM
@@ -3096,8 +3667,8 @@ SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub
PMID- 41928938
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260415
-LR - 20260415
+DCOM- 20260609
+LR - 20260614
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 Mar 23
@@ -3211,6 +3782,8 @@ PL - United States
TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
+UIN - J Clin Invest. 2026 Jun 01;136(11):e191508. doi: 10.1172/JCI191508. PMID:
+ 42222887
PMC - PMC13041952
COIS- Competing interests The authors declare that no conflicts of interest exist.
EDAT- 2026/04/03 06:31
@@ -3230,8 +3803,8 @@ SO - bioRxiv [Preprint]. 2026 Mar 23:2026.03.20.711195. doi:
PMID- 41917466
OWN - NLM
STAT- MEDLINE
-DCOM- 20260420
-LR - 20260420
+DCOM- 20260621
+LR - 20260621
IS - 1545-9985 (Electronic)
IS - 1545-9985 (Linking)
VI - 33
@@ -3305,13 +3878,15 @@ RN - 0 (Protein Aggregates)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - *Amyotrophic Lateral Sclerosis/genetics/metabolism/pathology
-MH - Humans
-MH - *Frontotemporal Dementia/genetics/metabolism/pathology
-MH - *C9orf72 Protein/genetics/metabolism/chemistry
MH - G-Quadruplexes
-MH - *RNA/chemistry/metabolism/genetics
-MH - *Protein Aggregates
+MH - *C9orf72 Protein/genetics/metabolism/chemistry
+MH - *Frontotemporal Dementia/genetics/metabolism/pathology
+MH - Humans
+MH - *RNA/chemistry/genetics/metabolism
MH - *Biomolecular Condensates/metabolism/chemistry
+MH - *Protein Aggregates
+MH - DNA Repeat Expansion
+MH - Nucleic Acid Conformation
MH - *Protein Aggregation, Pathological/genetics
COIS- Competing interests: The authors declare no competing interests.
EDAT- 2026/04/01 00:29
@@ -3332,7 +3907,7 @@ PMID- 41884597
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260326
-LR - 20260326
+LR - 20260608
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 8
@@ -3495,6 +4070,8 @@ PL - England
TA - Brain Commun
JT - Brain communications
JID - 101755125
+EIN - Brain Commun. 2026 Jun 05;8(3):fcag208. doi: 10.1093/braincomms/fcag208. PMID:
+ 42255926
PMC - PMC13010074
OTO - NOTNLM
OT - C9orf72
@@ -3523,8 +4100,8 @@ SO - Brain Commun. 2026 Mar 17;8(2):fcag087. doi: 10.1093/braincomms/fcag087.
PMID- 41856038
OWN - NLM
STAT- MEDLINE
-DCOM- 20260319
-LR - 20260319
+DCOM- 20260620
+LR - 20260620
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Linking)
VI - 114
@@ -3547,26 +4124,27 @@ AD - Center for NeuroGenetics, Department of Molecular Genetics and Microbiolog
Neurological Diseases, University of Florida, Gainesville, FL 32610, USA.
Electronic address: lien.nguyen@ufl.edu.
LA - eng
+PT - Comment
PT - Journal Article
PL - United States
TA - Neuron
JT - Neuron
JID - 8809320
-RN - 0 (C9orf72 Protein)
-RN - 0 (C9orf72 protein, human)
RN - 63231-63-0 (RNA)
-RN - 9007-49-2 (DNA)
+RN - 0 (C9orf72 Protein)
RN - 0 (Proteins)
+RN - 0 (C9orf72 protein, human)
+RN - EC 2.7.7.- (RNA Polymerase II)
SB - IM
MH - *G-Quadruplexes
MH - Humans
MH - *Promoter Regions, Genetic/genetics
-MH - C9orf72 Protein/genetics
MH - *Amyotrophic Lateral Sclerosis/genetics
MH - *DNA Repeat Expansion/genetics
MH - *RNA/genetics
-MH - *DNA/genetics
+MH - C9orf72 Protein
MH - *Proteins/genetics
+MH - RNA Polymerase II
COIS- Declaration of interests The author declares no competing interest.
EDAT- 2026/03/20 00:59
MHDA- 2026/03/20 01:00
@@ -3830,8 +4408,8 @@ SO - Neurol Open Access. 2026 Mar;2(1):e000064. doi: 10.1212/wn9.00000000000000
PMID- 41787388
OWN - NLM
STAT- MEDLINE
-DCOM- 20260414
-LR - 20260416
+DCOM- 20260612
+LR - 20260629
IS - 1741-7015 (Electronic)
IS - 1741-7015 (Linking)
VI - 24
@@ -3987,18 +4565,15 @@ SB - IM
MH - *Amyotrophic Lateral Sclerosis/blood/genetics/metabolism
MH - Humans
MH - *Metabolome
-MH - Male
MH - Female
+MH - Male
MH - Animals
+MH - *Energy Metabolism
MH - Mice
MH - Mendelian Randomization Analysis
-MH - Middle Aged
-MH - *Energy Metabolism
+MH - Neurons/metabolism
MH - Astrocytes/metabolism
MH - C9orf72 Protein/genetics
-MH - Neurons/metabolism
-MH - Aged
-MH - Genome-Wide Association Study
PMC - PMC13077999
OTO - NOTNLM
OT - Acetylcarnitine
@@ -4043,7 +4618,7 @@ PMID- 41766077
OWN - NLM
STAT- MEDLINE
DCOM- 20260306
-LR - 20260306
+LR - 20260610
IS - 1537-1611 (Electronic)
IS - 1522-0443 (Linking)
VI - 27
@@ -4084,12 +4659,11 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - *C9orf72 Protein/genetics
MH - *Amyotrophic Lateral Sclerosis/genetics/physiopathology
-MH - *DNA Repeat Expansion/genetics
+MH - *C9orf72 Protein/genetics
+MH - DNA Repeat Expansion
MH - Male
MH - Middle Aged
-MH - Female
OTO - NOTNLM
OT - C9orf72
OT - amyotrophic lateral sclerosis
@@ -4112,8 +4686,8 @@ SO - J Clin Neuromuscul Dis. 2026 Mar 1;27(3):96-98. doi:
PMID- 41763422
OWN - NLM
STAT- MEDLINE
-DCOM- 20260314
-LR - 20260314
+DCOM- 20260612
+LR - 20260612
IS - 1879-0003 (Electronic)
IS - 0141-8130 (Linking)
VI - 351
@@ -4180,24 +4754,20 @@ TA - Int J Biol Macromol
JT - International journal of biological macromolecules
JID - 7909578
RN - 0 (Ginsenosides)
-RN - 0 (C9orf72 Protein)
RN - A9RLM212CY (ginsenoside compound K)
-RN - 0 (Dipeptides)
+RN - 0 (C9orf72 Protein)
RN - 94ZLA3W45F (Arginine)
-RN - 0 (C9orf72 protein, human)
-RN - 63231-63-0 (RNA)
+RN - 0 (Peptides)
SB - IM
-MH - *Amyotrophic Lateral Sclerosis/genetics/drug therapy/metabolism/pathology
MH - *Ginsenosides/pharmacology/chemistry
+MH - *Amyotrophic Lateral Sclerosis/genetics/drug therapy/metabolism
MH - *C9orf72 Protein/genetics
-MH - Animals
MH - Humans
+MH - Animals
+MH - *DNA Repeat Expansion/drug effects
MH - G-Quadruplexes/drug effects
-MH - *Dipeptides/chemistry/metabolism
MH - Arginine/chemistry
-MH - *DNA Repeat Expansion
-MH - Mice
-MH - RNA/chemistry/genetics
+MH - *Peptides/chemistry
OTO - NOTNLM
OT - Ginsenoside CK
OT - Poly-dipeptides
@@ -4222,8 +4792,8 @@ SO - Int J Biol Macromol. 2026 Mar;351:151138. doi: 10.1016/j.ijbiomac.2026.151
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -4397,18 +4967,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -4436,126 +5004,6 @@ PST - ppublish
SO - EBioMedicine. 2026 Mar;125:106190. doi: 10.1016/j.ebiom.2026.106190. Epub 2026
Feb 26.
-PMID- 41760955
-OWN - NLM
-STAT- In-Process
-LR - 20260321
-IS - 1590-3478 (Electronic)
-IS - 1590-1874 (Print)
-IS - 1590-1874 (Linking)
-VI - 47
-IP - 3
-DP - 2026 Feb 28
-TI - KIF5A and ALS: a clinical and genetic description of a case series and review of
- literature.
-LID - 10.1007/s10072-026-08885-w [doi]
-LID - 305
-AB - Approximately 10% of ALS (amyotrophic lateral sclerosis) cases show a family
- history, and the remaining 90% are sporadic. In 2018, through genome sequencing
- using two independent approaches, KIF5A was described as a novel ALS-associated
- gene. To describe clinical and genetic characteristics of a series of patients
- with motor neuron disease (MND), diagnosed at University Hospital of Palermo,
- carrying KIF5A variants. During 2019-2023, two hundred twenty-four patients with
- MND and healthy subjects with familial history of MND, underwent next-generation
- sequencing (NGS) for molecular analysis, including genetic testing for C9orf72
- hexanucleotide-repeat expansion. The most mutated ALS genes, including KIF5A,
- were included in a NGS panel. Of the entire tested population, eight patients
- (including a brother and a sister) were found to carry KIF5A variants. Four
- patients had familial ALS, the other four were sporadic. Six patients were
- females (75%). Mean age at ALS onset was 59 years (33-75). Patients were
- evaluated according to the ALSFRS-revisited during follow-up visits. According to
- disease progression rate, five patients were defined as ∆FS 1
- (fast-progressors). Of the seven KIF5A variants, three are not already described
- in literature (respectively c.170 C > T, p.Thr57Met; c.2920T > G, p.Ser974Ala and
- c.2732 A > C, p.Lys911Thr). Two patients showed the association of variations in
- KIF5A with variations or mutations in other ALS genes, one of them carried a
- pathogenic variant of FUS (P525L). This study demonstrates phenotypic variability
- related to mutations in different regions of the same gene resulting in a
- susceptibility for the disease spectrum with different characteristics.
-FAU - D'Amico, Anna
-AU - D'Amico A
-AUID- ORCID: 0009-0003-1938-9677
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-FAU - Cucunato, Roberta
-AU - Cucunato R
-AUID- ORCID: 0009-0000-3442-984X
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-FAU - Schiro, Giuseppe
-AU - Schiro G
-AUID- ORCID: 0009-0002-9632-1994
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-AD - Neurology and Multiple Sclerosis Center, Unita Operativa Complessa (UOC),
- Foundation Institute "G. Giglio", Cefalu, 90015, Italy.
-FAU - Salemi, Giuseppe
-AU - Salemi G
-AUID- ORCID: 0000-0002-3756-4323
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-FAU - Ragonese, Paolo
-AU - Ragonese P
-AUID- ORCID: 0000-0003-2516-1567
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-AD - Neurology and Multiple Sclerosis Center, Unita Operativa Complessa (UOC),
- Foundation Institute "G. Giglio", Cefalu, 90015, Italy.
-FAU - La Bella, Vincenzo
-AU - La Bella V
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-FAU - Aridon, Paolo
-AU - Aridon P
-AUID- ORCID: 0000-0002-7424-9533
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy.
-FAU - D'Amelio, Marco
-AU - D'Amelio M
-AUID- ORCID: 0000-0002-2178-6749
-AD - Department of Biomedicine, Neuroscience, and Advanced Diagnostics, University of
- Palermo, Palermo, Italy. marco.damelio@unipa.it.
-LA - eng
-PT - Journal Article
-DEP - 20260228
-PL - Italy
-TA - Neurol Sci
-JT - Neurological sciences : official journal of the Italian Neurological Society and
- of the Italian Society of Clinical Neurophysiology
-JID - 100959175
-SB - IM
-PMC - PMC12948853
-OTO - NOTNLM
-OT - ALS
-OT - Genes
-OT - KIF5A
-OT - MND
-OT - Mutations
-OT - Variants
-COIS- Declarations. Conflict of interest: Dr. D'Amico reports no conflict of interest
- related to this work; Dr. Cucunato reports no conflict of interest related to
- this work; Dr. Schiro reports no conflict of interest related to this work; Prof.
- Salemi reports no conflict of interest related to this work; Prof. Ragonese
- reports no conflict of interest related to this work; Prof. Aridon reports no
- conflict of interest related to this work and Prof. D'Amelio reports no conflict
- of interest related to this work.
-EDAT- 2026/02/28 00:41
-MHDA- 2026/02/28 00:41
-PMCR- 2026/02/28
-CRDT- 2026/02/27 23:26
-PHST- 2025/09/01 00:00 [received]
-PHST- 2026/02/06 00:00 [accepted]
-PHST- 2026/02/28 00:41 [medline]
-PHST- 2026/02/28 00:41 [pubmed]
-PHST- 2026/02/27 23:26 [entrez]
-PHST- 2026/02/28 00:00 [pmc-release]
-AID - 10.1007/s10072-026-08885-w [pii]
-AID - 8885 [pii]
-AID - 10.1007/s10072-026-08885-w [doi]
-PST - epublish
-SO - Neurol Sci. 2026 Feb 28;47(3):305. doi: 10.1007/s10072-026-08885-w.
-
PMID- 41757350
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -4671,8 +5119,8 @@ SO - Front Cell Neurosci. 2026 Feb 11;20:1731669. doi: 10.3389/fncel.2026.17316
PMID- 41752089
OWN - NLM
STAT- MEDLINE
-DCOM- 20260305
-LR - 20260305
+DCOM- 20260610
+LR - 20260610
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -4867,24 +5315,19 @@ TA - Int J Mol Sci
JT - International journal of molecular sciences
JID - 101092791
RN - 0 (C9orf72 Protein)
-RN - EC 3.5.4.4 (Adenosine Deaminase)
RN - 0 (Purines)
+RN - EC 3.5.4.4 (Adenosine Deaminase)
RN - 0 (C9orf72 protein, human)
RN - 0 (Dipeptides)
-RN - EC 3.5.4.4 (ADA protein, human)
-RN - W60KTZ3IZY (purine)
SB - IM
MH - *Amyotrophic Lateral Sclerosis/metabolism/genetics/pathology
MH - *C9orf72 Protein/genetics/metabolism
MH - Humans
-MH - *Adenosine Deaminase/metabolism/genetics
MH - *Purines/metabolism
MH - Animals
-MH - Mice
-MH - *Dipeptides/genetics/metabolism
+MH - *Adenosine Deaminase/metabolism/genetics
MH - Astrocytes/metabolism
-MH - DNA Repeat Expansion
-MH - Male
+MH - *Dipeptides/genetics/metabolism
PMC - PMC12940700
OTO - NOTNLM
OT - ADA
@@ -4920,8 +5363,8 @@ SO - Int J Mol Sci. 2026 Feb 18;27(4):1953. doi: 10.3390/ijms27041953.
PMID- 41751955
OWN - NLM
STAT- MEDLINE
-DCOM- 20260305
-LR - 20260305
+DCOM- 20260612
+LR - 20260612
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -5019,16 +5462,16 @@ RN - 0 (neurofilament protein L)
SB - IM
MH - Animals
MH - *Amyotrophic Lateral Sclerosis/drug therapy/genetics/metabolism/pathology
+MH - *PPAR delta/agonists
+MH - *C9orf72 Protein/genetics/metabolism
MH - Mice
-MH - *PPAR delta/agonists/metabolism
MH - Disease Models, Animal
MH - Mice, Transgenic
-MH - *C9orf72 Protein/genetics/metabolism
-MH - Phenotype
MH - *DNA-Binding Proteins/genetics/metabolism
+MH - Phenotype
+MH - Humans
MH - Male
MH - Neurofilament Proteins/blood
-MH - Humans
PMC - PMC12940718
OTO - NOTNLM
OT - AAV-149R
@@ -5062,8 +5505,8 @@ SO - Int J Mol Sci. 2026 Feb 13;27(4):1820. doi: 10.3390/ijms27041820.
PMID- 41727102
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260309
-LR - 20260309
+DCOM- 20260623
+LR - 20260623
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 Feb 11
@@ -5141,6 +5584,8 @@ PL - United States
TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
+UIN - Acta Neuropathol Commun. 2026 Jun 18. doi: 10.1186/s40478-026-02341-8. PMID:
+ 42316301
PMC - PMC12918899
COIS- CONFLICTS OF INTEREST The authors declare no conflicts or competing interests.
EDAT- 2026/02/23 13:05
@@ -5269,7 +5714,7 @@ PMID- 41692171
OWN - NLM
STAT- MEDLINE
DCOM- 20260320
-LR - 20260501
+LR - 20260611
IS - 1095-953X (Electronic)
IS - 0969-9961 (Linking)
VI - 221
@@ -5329,7 +5774,6 @@ AD - Graduate Institute of Biomedical Sciences, College of Medicine, China Medi
eddieweng@mail.cmu.edu.tw.
LA - eng
PT - Journal Article
-PT - Research Support, Non-U.S. Gov't
DEP - 20260213
PL - United States
TA - Neurobiol Dis
@@ -5337,27 +5781,21 @@ JT - Neurobiology of disease
JID - 9500169
RN - 0 (C9orf72 Protein)
RN - 0 (Dipeptides)
-RN - 0 (Peptides)
-RN - 12G01I6BBU (ezogabine)
-RN - 0 (Carbamates)
-RN - 0 (Phenylenediamines)
+RN - 0 (C9orf72 protein, human)
RN - 0 (Proteins)
SB - IM
MH - Animals
MH - *Cerebral Cortex/metabolism/cytology
-MH - *Neurons/drug effects/physiology/metabolism
-MH - *C9orf72 Protein/genetics/metabolism
+MH - C9orf72 Protein/genetics
+MH - *Neurons/physiology/metabolism/drug effects
MH - Cells, Cultured
-MH - *Dipeptides/genetics/metabolism
-MH - DNA Repeat Expansion
-MH - *Peptides/metabolism/genetics
-MH - Carbamates/pharmacology
-MH - Phenylenediamines/pharmacology
-MH - Mice
-MH - *Synapses/drug effects/physiology/metabolism
+MH - *Dipeptides/metabolism/genetics
+MH - Amyotrophic Lateral Sclerosis/genetics/metabolism
+MH - *Synapses/physiology/drug effects
MH - *Proteins/genetics/metabolism
-MH - Membrane Potentials/physiology/drug effects
-MH - Rats
+MH - DNA Repeat Expansion
+MH - Membrane Potentials/physiology
+MH - Humans
OTO - NOTNLM
OT - Amyotrophic lateral sclerosis
OT - C9orf72
@@ -5384,7 +5822,7 @@ PMID- 41665027
OWN - NLM
STAT- MEDLINE
DCOM- 20260306
-LR - 20260513
+LR - 20260608
IS - 1546-4156 (Electronic)
IS - 0893-0341 (Linking)
VI - 40
@@ -5440,12 +5878,11 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
+MH - *Frontotemporal Dementia/genetics/pathology
MH - *C9orf72 Protein/genetics
-MH - *Frontotemporal Dementia/genetics
MH - *DNA Repeat Expansion/genetics
MH - Male
-MH - Middle Aged
-MH - Atrophy
+MH - Brain/pathology/diagnostic imaging
OTO - NOTNLM
OT - behavioral variant dementia
OT - case report
@@ -5610,8 +6047,8 @@ SO - Front Neurosci. 2026 Jan 23;20:1741065. doi: 10.3389/fnins.2026.1741065.
PMID- 41643661
OWN - NLM
STAT- MEDLINE
-DCOM- 20260319
-LR - 20260527
+DCOM- 20260608
+LR - 20260608
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -5738,24 +6175,23 @@ PL - United States
TA - Neuron
JT - Neuron
JID - 8809320
+RN - 63231-63-0 (RNA)
RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
-RN - 63231-63-0 (RNA)
RN - 9007-49-2 (DNA)
-RN - 0 (Chromatin)
SB - IM
+MH - *G-Quadruplexes
MH - Humans
+MH - *RNA/genetics
MH - *C9orf72 Protein/genetics
-MH - *G-Quadruplexes
-MH - *RNA/genetics/metabolism
MH - *DNA Repeat Expansion/genetics
MH - *Amyotrophic Lateral Sclerosis/genetics
-MH - Frontotemporal Dementia/genetics
MH - *DNA/genetics
-MH - Transcription, Genetic
-MH - Chromatin/metabolism
+MH - *Transcription, Genetic
+MH - Frontotemporal Dementia/genetics
+MH - Gene Expression Regulation/genetics
MH - Motor Neurons/metabolism
-MH - Gene Expression Regulation
+MH - Animals
PMC - PMC13204405
MID - NIHMS2168308
OTO - NOTNLM
@@ -6307,102 +6743,11 @@ PST - epublish
SO - iScience. 2026 Jan 2;29(2):114596. doi: 10.1016/j.isci.2025.114596. eCollection
2026 Feb 20.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41500252
OWN - NLM
STAT- MEDLINE
DCOM- 20260405
-LR - 20260601
+LR - 20260630
IS - 1750-3639 (Electronic)
IS - 1015-6305 (Print)
IS - 1015-6305 (Linking)
@@ -11432,14 +11777,17 @@ SO - J Biol Chem. 2025 Nov;301(11):110764. doi: 10.1016/j.jbc.2025.110764. Epub
PMID- 41004400
OWN - NLM
-STAT- Publisher
-LR - 20250926
+STAT- MEDLINE
+DCOM- 20260628
+LR - 20260628
IS - 2214-3602 (Electronic)
IS - 2214-3599 (Linking)
-DP - 2025 Sep 26
+VI - 13
+IP - 4
+DP - 2026 Jul
TI - Atypical features including acquired oculomotor apraxia in C9orf72-associated
familial primary lateral sclerosis.
-PG - 22143602251380427
+PG - 808-816
LID - 10.1177/22143602251380427 [doi]
AB - BACKGROUND: The phenotypic variability of C9orf72-associated disease is
broadening, including atypical and non-motor presentations. C9orf72-associated
@@ -11491,13 +11839,28 @@ AD - The Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. RINGGOLD:
AD - Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa,
Ontario, Canada. RINGGOLD: 27337
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20250926
PL - United States
TA - J Neuromuscul Dis
JT - Journal of neuromuscular diseases
JID - 101649948
+RN - 0 (C9orf72 Protein)
+RN - 0 (C9orf72 protein, human)
SB - IM
+MH - Humans
+MH - Male
+MH - Middle Aged
+MH - *C9orf72 Protein/genetics
+MH - *Apraxias/genetics/physiopathology/etiology
+MH - Aged
+MH - *Motor Neuron Disease/genetics/physiopathology
+MH - Amyotrophic Lateral Sclerosis/genetics/physiopathology
+MH - Mutation
+MH - Pedigree
+MH - Frontotemporal Dementia/genetics/physiopathology
+MH - Phenotype
OTO - NOTNLM
OT - TDP-43 proteinopathies
OT - amyotrophic lateral sclerosis
@@ -11510,14 +11873,15 @@ OT - ophthalmoplegia
OT - paralysis
OT - primary lateral sclerosis
EDAT- 2025/09/26 18:29
-MHDA- 2025/09/26 18:29
+MHDA- 2026/06/28 06:34
CRDT- 2025/09/26 13:14
-PHST- 2025/09/26 18:29 [medline]
+PHST- 2026/06/28 06:34 [medline]
PHST- 2025/09/26 18:29 [pubmed]
PHST- 2025/09/26 13:14 [entrez]
AID - 10.1177/22143602251380427 [doi]
-PST - aheadofprint
-SO - J Neuromuscul Dis. 2025 Sep 26:22143602251380427. doi: 10.1177/22143602251380427.
+PST - ppublish
+SO - J Neuromuscul Dis. 2026 Jul;13(4):808-816. doi: 10.1177/22143602251380427. Epub
+ 2025 Sep 26.
PMID- 40992079
OWN - NLM
@@ -12648,7 +13012,7 @@ PMID- 40875372
OWN - NLM
STAT- MEDLINE
DCOM- 20250926
-LR - 20251212
+LR - 20260622
IS - 1522-1563 (Electronic)
IS - 0363-6143 (Print)
IS - 0363-6143 (Linking)
@@ -12685,45 +13049,45 @@ AU - Ghaffari LT
AUID- ORCID: 0000-0003-1573-7745
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Welebob, Emily A
AU - Welebob EA
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Newton, Sarah E B
AU - Newton SEB
AUID- ORCID: 0000-0002-8309-5206
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Boehringer, Ashley V
AU - Boehringer AV
AUID- ORCID: 0000-0003-2428-5656
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Cyliax, Kelly L
AU - Cyliax KL
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Pasinelli, Piera
AU - Pasinelli P
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Trotti, Davide
AU - Trotti D
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
FAU - Haeusler, Aaron R
AU - Haeusler AR
AUID- ORCID: 0000-0001-5566-3707
AD - Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber
Institute for Neuroscience, Thomas Jefferson University, Philadelphia,
- Pennsylvania, United States. ROR: https://ror.org/00ysqcn41
+ Pennsylvania, United States.
LA - eng
GR - RF1 NS114128/NS/NINDS NIH HHS/United States
GR - R01NS109150/HHS | NIH | National Institute of Neurological Disorders and Stroke
@@ -12737,6 +13101,8 @@ GR - NA/Farber Family Foundation/
GR - R01NS114128/HHS | NIH | National Institute of Neurological Disorders and Stroke
(NINDS)/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20250828
PL - United States
TA - Am J Physiol Cell Physiol
@@ -13285,7 +13651,7 @@ PMID- 40776416
OWN - NLM
STAT- MEDLINE
DCOM- 20250808
-LR - 20251008
+LR - 20260618
IS - 1759-0914 (Electronic)
IS - 1759-0914 (Linking)
VI - 17
@@ -13336,6 +13702,7 @@ AD - Department of Neurology and Neurosurgery, Montreal Neurological
Canada.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250807
PL - United States
TA - ASN Neuro
@@ -14829,7 +15196,7 @@ PMID- 40541176
OWN - NLM
STAT- MEDLINE
DCOM- 20250709
-LR - 20250807
+LR - 20260616
IS - 2213-6711 (Electronic)
IS - 2213-6711 (Linking)
VI - 20
@@ -14935,6 +15302,7 @@ AD - Developmental Biology Program & Center for Stem Cell Biology, Memorial Slo
LA - eng
GR - P30 CA008748/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250619
PL - United States
TA - Stem Cell Reports
@@ -15313,7 +15681,7 @@ PMID- 40504117
OWN - NLM
STAT- MEDLINE
DCOM- 20250612
-LR - 20260307
+LR - 20260617
IS - 1540-8140 (Electronic)
IS - 0021-9525 (Print)
IS - 0021-9525 (Linking)
@@ -15351,15 +15719,13 @@ AU - Coyne AN
AUID- ORCID: 0000-0002-3658-5325
AD - Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore,
MD, USA.
-AD - Department of Neurology, Johns Hopkins University, Baltimore, MD, USA. ROR:
- https://ror.org/00za53h95
+AD - Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
FAU - Rothstein, Jeffrey D
AU - Rothstein JD
AUID- ORCID: 0000-0003-2001-8470
AD - Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore,
MD, USA.
-AD - Department of Neurology, Johns Hopkins University, Baltimore, MD, USA. ROR:
- https://ror.org/00za53h95
+AD - Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
FAU - Lusk, C Patrick
AU - Lusk CP
AUID- ORCID: 0000-0003-4703-0533
@@ -15369,7 +15735,7 @@ AU - King MC
AUID- ORCID: 0000-0002-1688-2226
AD - Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.
AD - Department of Molecular, Cell and Developmental Biology, Yale University, New
- Haven, CT, USA. ROR: https://ror.org/03v76x132
+ Haven, CT, USA.
LA - eng
GR - R01 NS122236/NH/NIH HHS/United States
GR - F31 HL158119/NH/NIH HHS/United States
@@ -15381,6 +15747,8 @@ GR - R01 GM129308/GM/NIGMS NIH HHS/United States
GR - 2420904/National Science Foundation/
GR - R01 GM129308/NH/NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20250612
PL - United States
TA - J Cell Biol
@@ -19373,6 +19741,7 @@ STAT- MEDLINE
DCOM- 20250507
LR - 20250507
IS - 1520-6882 (Electronic)
+IS - 0003-2700 (Print)
IS - 0003-2700 (Linking)
VI - 97
IP - 7
@@ -19441,12 +19810,16 @@ MH - *RNA/genetics/analysis/chemistry
MH - *Microsatellite Repeats/genetics
MH - Fluorescence
MH - *GC Rich Sequence
+PMC - PMC13261719
+MID - NIHMS2179537
EDAT- 2025/02/13 12:25
MHDA- 2025/02/25 06:21
+PMCR- 2026/06/12
CRDT- 2025/02/13 08:42
PHST- 2025/02/25 06:21 [medline]
PHST- 2025/02/13 12:25 [pubmed]
PHST- 2025/02/13 08:42 [entrez]
+PHST- 2026/06/12 00:00 [pmc-release]
AID - 10.1021/acs.analchem.4c06236 [doi]
PST - ppublish
SO - Anal Chem. 2025 Feb 25;97(7):4111-4119. doi: 10.1021/acs.analchem.4c06236. Epub
@@ -19629,7 +20002,7 @@ PMID- 39913612
OWN - NLM
STAT- MEDLINE
DCOM- 20250430
-LR - 20250501
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -19719,6 +20092,7 @@ GR - P01 NS084974/NS/NINDS NIH HHS/United States
GR - 5P01NS084974/CL/CLC NIH HHS/United States
GR - American Academy of Neurology/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250206
PL - United States
TA - Ann Clin Transl Neurol
@@ -24063,7 +24437,7 @@ SO - Neurologist. 2025 Jan 1;30(1):42-44. doi: 10.1097/NRL.0000000000000587.
PMID- 39345637
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20251129
+LR - 20260617
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 Apr 7
@@ -25050,7 +25424,7 @@ PMID- 39288267
OWN - NLM
STAT- MEDLINE
DCOM- 20241101
-LR - 20260501
+LR - 20260613
IS - 1558-8238 (Electronic)
IS - 0021-9738 (Print)
IS - 0021-9738 (Linking)
@@ -25112,6 +25486,8 @@ GR - R01 NS074324/NS/NINDS NIH HHS/United States
GR - R01 NS110098/NS/NINDS NIH HHS/United States
GR - R01 NS089616/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20240917
PL - United States
TA - J Clin Invest
@@ -28054,7 +28430,7 @@ PMID- 39042693
OWN - NLM
STAT- MEDLINE
DCOM- 20240723
-LR - 20260127
+LR - 20260623
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -28156,6 +28532,9 @@ GR - U19NS132303/HHS | NIH | National Institute of Neurological Disorders and S
GR - K99 GM138753/GM/NIGMS NIH HHS/United States
GR - K99GM138753/HHS | National Institutes of Health (NIH)/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20240723
PL - United States
TA - Proc Natl Acad Sci U S A
@@ -29087,7 +29466,7 @@ PMID- 38860430
OWN - NLM
STAT- MEDLINE
DCOM- 20240721
-LR - 20240820
+LR - 20260608
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -29195,11 +29574,13 @@ AD - Institute for Advanced Study and State Key Laboratory of Molecular Neurosc
AD - HKUST Shenzhen Research Institute, Hi-Tech Park, Nanshan, Shenzhen, Guangdong,
China.
LA - eng
+SI - PDB/8X0S
GR - 32071188/National Scientific Foundation of China/
GR - 16101120/Research Grants Council of the Hong Kong Special Administrative Region/
GR - 3502Z20214001/Hong Kong University of Science and Technology/
GR - 2021A1515220104/Guangdong Basic and Applied Basic Research Foundation/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -29965,6 +30346,7 @@ PST - epublish
SO - PLoS One. 2024 May 16;19(5):e0301267. doi: 10.1371/journal.pone.0301267.
eCollection 2024.
+
PMID- 38751620
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -30185,7 +30567,7 @@ PMID- 38734896
OWN - NLM
STAT- MEDLINE
DCOM- 20240704
-LR - 20250704
+LR - 20260620
IS - 1525-0024 (Electronic)
IS - 1525-0016 (Print)
IS - 1525-0016 (Linking)
@@ -30247,6 +30629,7 @@ AD - School of Life Science and Technology, ShanghaiTech University, Shanghai 2
China. Electronic address: lilei@shanghaitech.edu.cn.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240511
PL - United States
TA - Mol Ther
@@ -30300,7 +30683,6 @@ PST - ppublish
SO - Mol Ther. 2024 Jul 3;32(7):2176-2189. doi: 10.1016/j.ymthe.2024.05.016. Epub 2024
May 11.
-
PMID- 38722513
OWN - NLM
STAT- MEDLINE
@@ -32602,7 +32984,7 @@ PMID- 38412259
OWN - NLM
STAT- MEDLINE
DCOM- 20240609
-LR - 20260501
+LR - 20260606
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -32702,6 +33084,9 @@ GR - Cellular and Molecular Biology Graduate Program, University of Michigan/
GR - R35 NS097273/NS/NINDS NIH HHS/United States
GR - P50HD104463/GF/NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -33737,7 +34122,7 @@ PMID- 38234062
OWN - NLM
STAT- MEDLINE
DCOM- 20240327
-LR - 20240328
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 11
@@ -33890,6 +34275,7 @@ GR - Department of Excellence/
GR - 'Rita Levi Montalcini' Department of Neuroscience/
GR - University of Torino, Italy/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240117
PL - United States
TA - Ann Clin Transl Neurol
@@ -40497,7 +40883,7 @@ SO - Neurol Genet. 2023 Jun 14;9(4):e200081. doi: 10.1212/NXG.0000000000200081.
PMID- 37333274
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250909
+LR - 20260606
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2023 Jun 7
@@ -59992,6 +60378,7 @@ PST - ppublish
SO - EMBO Mol Med. 2021 Nov 8;13(11):e14163. doi: 10.15252/emmm.202114163. Epub 2021
Sep 20.
+
PMID- 34534264
OWN - NLM
STAT- MEDLINE
@@ -60469,7 +60856,6 @@ AID - 10.1038/s41398-021-01577-3 [doi]
PST - epublish
SO - Transl Psychiatry. 2021 Sep 2;11(1):451. doi: 10.1038/s41398-021-01577-3.
-
PMID- 34450161
OWN - NLM
STAT- MEDLINE
@@ -78445,7 +78831,6 @@ TI - Improved detection of RNA foci in C9orf72 amyotrophic lateral sclerosis
dysfunction.
PG - fcaa009
LID - 10.1093/braincomms/fcaa009 [doi]
-LID - fcaa009
AB - The C9orf72 hexanucleotide repeat expansion is the commonest known genetic
mutation in amyotrophic lateral sclerosis. A neuropathological hallmark is the
intracellular accumulation of RNA foci. The role that RNA foci play in the
@@ -78539,13 +78924,10 @@ OT - sense RNA foci
COIS- Competing interests The authors declare no conflicts of interest.
EDAT- 2020/04/01 06:00
MHDA- 2020/04/01 06:01
-PMCR- 2020/01/31
CRDT- 2020/04/01 06:00
PHST- 2020/04/01 06:00 [entrez]
PHST- 2020/04/01 06:00 [pubmed]
PHST- 2020/04/01 06:01 [medline]
-PHST- 2020/01/31 00:00 [pmc-release]
-AID - fcaa009 [pii]
AID - 10.1093/braincomms/fcaa009 [doi]
PST - ppublish
SO - Brain Commun. 2020 Jan 31;2(1):fcaa009. doi: 10.1093/braincomms/fcaa009.
@@ -89886,6 +90268,7 @@ PST - ppublish
SO - J Neurol Sci. 2019 Jun 15;401:51-54. doi: 10.1016/j.jns.2019.04.026. Epub 2019
Apr 17.
+
PMID- 31007077
OWN - NLM
STAT- MEDLINE
@@ -90234,7 +90617,6 @@ PST - ppublish
SO - Neurobiol Aging. 2019 Dec;84:241.e21-241.e25. doi:
10.1016/j.neurobiolaging.2019.03.009. Epub 2019 Mar 27.
-
PMID- 30992063
OWN - NLM
STAT- MEDLINE
@@ -121143,6 +121525,7 @@ AID - 10.1159/000445872 [doi]
PST - ppublish
SO - Neurodegener Dis. 2016;16(5-6):370-2. doi: 10.1159/000445872. Epub 2016 May 31.
+
PMID- 27195002
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -121455,7 +121838,6 @@ AID - 10.1016/j.neuron.2016.04.026 [doi]
PST - ppublish
SO - Neuron. 2016 May 4;90(3):427-31. doi: 10.1016/j.neuron.2016.04.026.
-
PMID- 27112497
OWN - NLM
STAT- MEDLINE
@@ -128498,7 +128880,7 @@ PMID- 26308891
OWN - NLM
STAT- MEDLINE
DCOM- 20151001
-LR - 20230720
+LR - 20260603
IS - 1476-4687 (Electronic)
IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
@@ -128595,8 +128977,8 @@ AU - Rothstein JD
AD - Brain Science Institute, School of Medicine, Johns Hopkins University.
AD - Department of Neuroscience, School of Medicine, Johns Hopkins University.
LA - eng
-GR - R01 NS094239/NS/NINDS NIH HHS/United States
GR - RC2 NS069395/NS/NINDS NIH HHS/United States
+GR - R01NS085207/NS/NINDS NIH HHS/United States
GR - T32 CA009110/CA/NCI NIH HHS/United States
GR - R01 NS074324/NS/NINDS NIH HHS/United States
GR - R01 NS082563/NS/NINDS NIH HHS/United States
@@ -128606,8 +128988,6 @@ GR - U24 NS078736/NS/NINDS NIH HHS/United States
GR - CA009110/CA/NCI NIH HHS/United States
GR - R01 NS089616/NS/NINDS NIH HHS/United States
GR - R01 NS085207/NS/NINDS NIH HHS/United States
-GR - R01 GM060980/GM/NIGMS NIH HHS/United States
-GR - R01NS085207/NS/NINDS NIH HHS/United States
GR - P40 OD018537/OD/NIH HHS/United States
GR - R00 NS091486/NS/NINDS NIH HHS/United States
GR - P01 AG012992/AG/NIA NIH HHS/United States
@@ -141280,7 +141660,7 @@ PMID- 24598541
OWN - NLM
STAT- MEDLINE
DCOM- 20140401
-LR - 20260128
+LR - 20260603
IS - 1476-4687 (Electronic)
IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
@@ -141361,13 +141741,12 @@ AD - 1] Department of Biochemistry and Molecular Biology, Johns Hopkins Univers
University Baltimore, Maryland 21205, USA.
LA - eng
GR - R01 NS085207/NS/NINDS NIH HHS/United States
+GR - P50 AG005146/AG/NIA NIH HHS/United States
GR - R01 NS074324/NS/NINDS NIH HHS/United States
GR - NS085207/NS/NINDS NIH HHS/United States
GR - P50AG05146/AG/NIA NIH HHS/United States
GR - 5T32CA009110-36/CA/NCI NIH HHS/United States
GR - NS07432/NS/NINDS NIH HHS/United States
-GR - UL1 TR001079/TR/NCATS NIH HHS/United States
-GR - P50 AG005146/AG/NIA NIH HHS/United States
GR - P30 DK089502/DK/NIDDK NIH HHS/United States
GR - T32 CA009110/CA/NCI NIH HHS/United States
PT - Journal Article
@@ -145051,7 +145430,7 @@ PMID- 24139042
OWN - NLM
STAT- MEDLINE
DCOM- 20140109
-LR - 20240503
+LR - 20260603
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -145122,7 +145501,6 @@ AU - Sattler R
FAU - Rothstein, Jeffrey D
AU - Rothstein JD
LA - eng
-GR - R01 NS074324/NS/NINDS NIH HHS/United States
GR - R01 NS085207/NS/NINDS NIH HHS/United States
PT - Journal Article
PT - Research Support, Non-U.S. Gov't
@@ -147587,7 +147965,6 @@ STAT- MEDLINE
DCOM- 20140925
LR - 20220331
IS - 1469-1809 (Electronic)
-IS - 0003-4800 (Print)
IS - 0003-4800 (Linking)
VI - 77
IP - 5
@@ -147702,14 +148079,12 @@ OT - association
OT - risk factor
EDAT- 2013/07/13 06:00
MHDA- 2014/09/26 06:00
-PMCR- 2014/01/27
CRDT- 2013/07/13 06:00
PHST- 2012/11/07 00:00 [received]
PHST- 2013/06/04 00:00 [accepted]
PHST- 2013/07/13 06:00 [entrez]
PHST- 2013/07/13 06:00 [pubmed]
PHST- 2014/09/26 06:00 [medline]
-PHST- 2014/01/27 00:00 [pmc-release]
AID - 10.1111/ahg.12033 [doi]
PST - ppublish
SO - Ann Hum Genet. 2013 Sep;77(5):351-63. doi: 10.1111/ahg.12033. Epub 2013 Jul 12.
@@ -148082,6 +148457,7 @@ PST - ppublish
SO - Acta Neuropathol. 2013 Sep;126(3):401-9. doi: 10.1007/s00401-013-1147-0. Epub
2013 Jul 2.
+
PMID- 23771489
OWN - NLM
STAT- MEDLINE
@@ -148389,7 +148765,6 @@ AID - 10.1002/ana.23946 [doi]
PST - ppublish
SO - Ann Neurol. 2013 Aug;74(2):180-7. doi: 10.1002/ana.23946.
-
PMID- 23695224
OWN - NLM
STAT- MEDLINE
@@ -149526,7 +149901,6 @@ STAT- MEDLINE
DCOM- 20131028
LR - 20211021
IS - 1399-5618 (Electronic)
-IS - 1398-5647 (Print)
IS - 1398-5647 (Linking)
VI - 15
IP - 3
@@ -158433,7 +158807,6 @@ STAT- MEDLINE
DCOM- 20120511
LR - 20260518
IS - 1474-4465 (Electronic)
-IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
VI - 11
IP - 4
@@ -158886,12 +159259,10 @@ FIR - Logroscino, Giancarlo
IR - Logroscino G
EDAT- 2012/03/13 06:00
MHDA- 2012/05/12 06:00
-PMCR- 2012/04/01
CRDT- 2012/03/13 06:00
PHST- 2012/03/13 06:00 [entrez]
PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/05/12 06:00 [medline]
-PHST- 2012/04/01 00:00 [pmc-release]
AID - S1474-4422(12)70043-1 [pii]
AID - 10.1016/S1474-4422(12)70043-1 [doi]
PST - ppublish
diff --git a/data/literature/CACNA1A_batch_01.txt b/data/literature/CACNA1A_batch_01.txt
index 7f521c5f..d5daa73e 100644
--- a/data/literature/CACNA1A_batch_01.txt
+++ b/data/literature/CACNA1A_batch_01.txt
@@ -1,9 +1,113 @@
+PMID- 42337487
+OWN - NLM
+STAT- Publisher
+LR - 20260624
+IS - 1471-2377 (Electronic)
+IS - 1471-2377 (Linking)
+DP - 2026 Jun 23
+TI - Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort
+ of spinocerebellar ataxia type 3.
+LID - 10.1186/s12883-026-05101-2 [doi]
+AB - BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is caused by CAG repeat
+ expansion in ATXN3, which inversely correlates with age at onset but does not
+ fully account for interindividual variability. A recent study in a mixed
+ European/South and North American cohort suggested that the PRKN V380L variant
+ (rs1801582), particularly in C/C homozygotes, was associated with earlier disease
+ onset. We therefore performed a replication analysis to evaluate the frequency
+ and potential clinical relevance of rs1801582 in a Japanese SCA3 cohort. METHODS:
+ rs1801582 genotypes were determined by Sanger sequencing in 228 genetically
+ confirmed SCA3 patients and 260 SCA6 patients as convenience disease controls.
+ Genotype frequencies were additionally compared with East Asian reference
+ populations from the 1000 Genomes Project Phase 3 dataset. Associations with age
+ at onset were evaluated using multivariable linear regression adjusted for
+ expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length, and sex.
+ RESULTS: Genotype frequencies in SCA3 (G/G: 86.0%, G/C: 13.2%, C/C: 0.9%) were
+ similar to those in controls (G/G: 85.8%, G/C: 13.5%, C/C: 0.8%) and closely
+ resembled those reported in East Asian reference populations. Because of the
+ extremely small number of C/C carriers (n = 2), subsequent analyses focused on
+ G/G and G/C carriers. In SCA3, median age at onset was comparable between
+ genotypes (42 vs. 41 years), and median expanded ATXN3 CAG repeat lengths did not
+ differ between groups (71 vs. 71 repeats). Multivariable regression analysis
+ adjusting for expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length,
+ and sex demonstrated that rs1801582 was not independently associated with age at
+ onset (beta = - 0.42 years, p = 0.84), whereas expanded CAG repeat length remained a
+ strong predictor (beta = - 1.68 years per repeat, p < 0.0001). CONCLUSIONS: The
+ rs1801582 C/C genotype is extremely rare in Japan; therefore, the present cohort
+ had limited statistical power to directly evaluate the previously proposed
+ recessive modifier effect. No detectable association between rs1801582 genotype
+ and age at onset was identified among G/G and G/C carriers in this Japanese
+ cohort. These findings highlight the importance of population-specific validation
+ and adequately powered replication studies when evaluating candidate genetic
+ modifiers in SCA3.
+CI - (c) 2026. The Author(s).
+FAU - Nadbitova, Ekaterina
+AU - Nadbitova E
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Takei, Nobuyuki
+AU - Takei N
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Hirokawa, Sachiko
+AU - Hirokawa S
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Hatano, Yuya
+AU - Hatano Y
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Ishihara, Tomohiko
+AU - Ishihara T
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Onodera, Osamu
+AU - Onodera O
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Koike, Yuka Mitsuhashi
+AU - Koike YM
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan. yukkoike@bri.niigata-u.ac.jp.
+LA - eng
+PT - Journal Article
+DEP - 20260623
+PL - England
+TA - BMC Neurol
+JT - BMC neurology
+JID - 100968555
+SB - IM
+OTO - NOTNLM
+OT - Age at onset
+OT - Japanese population
+OT - Machado-Joseph disease (MJD)
+OT - Single nucleotide polymorphism
+COIS- Declarations. Ethics approval and consent to participate: The study was approved
+ by the institutional review board of Niigata University (approval number:
+ G2021-0010, approved on September 29, 2021) and was conducted in accordance with
+ the Declaration of Helsinki. The requirement for additional informed consent was
+ waived due to the retrospective design. Consent for publication: Not applicable.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/24 06:39
+MHDA- 2026/06/24 06:39
+CRDT- 2026/06/24 00:06
+PHST- 2026/03/07 00:00 [received]
+PHST- 2026/06/18 00:00 [accepted]
+PHST- 2026/06/24 06:39 [medline]
+PHST- 2026/06/24 06:39 [pubmed]
+PHST- 2026/06/24 00:06 [entrez]
+AID - 10.1186/s12883-026-05101-2 [pii]
+AID - 10.1186/s12883-026-05101-2 [doi]
+PST - aheadofprint
+SO - BMC Neurol. 2026 Jun 23. doi: 10.1186/s12883-026-05101-2.
+
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -994,7 +1098,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -1112,27 +1216,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -1157,8 +1260,8 @@ SO - Life Sci Alliance. 2026 Mar 2;9(5):e202503555. doi: 10.26508/lsa.202503555
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -1332,18 +1435,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -1371,97 +1472,6 @@ PST - ppublish
SO - EBioMedicine. 2026 Mar;125:106190. doi: 10.1016/j.ebiom.2026.106190. Epub 2026
Feb 26.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41358280
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -2872,7 +2882,7 @@ PMID- 39152783
OWN - NLM
STAT- MEDLINE
DCOM- 20241112
-LR - 20260127
+LR - 20260701
IS - 1468-1331 (Electronic)
IS - 1351-5101 (Print)
IS - 1351-5101 (Linking)
diff --git a/data/literature/CEL_batch_01.txt b/data/literature/CEL_batch_01.txt
index f4279200..5e0264ed 100644
--- a/data/literature/CEL_batch_01.txt
+++ b/data/literature/CEL_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 41894686
OWN - NLM
STAT- MEDLINE
-DCOM- 20260515
-LR - 20260528
+DCOM- 20260620
+LR - 20260620
IS - 2473-9537 (Electronic)
IS - 2473-9529 (Print)
IS - 2473-9529 (Linking)
@@ -91,17 +91,15 @@ RN - 7S5I7G3JQL (Dexamethasone)
RN - 0 (Receptors, Chimeric Antigen)
SB - IM
MH - Humans
-MH - *Dexamethasone/therapeutic use
-MH - *Multiple Myeloma/therapy/mortality
-MH - Male
+MH - *Dexamethasone/therapeutic use/pharmacology
+MH - *Multiple Myeloma/therapy/mortality/drug therapy
MH - Female
-MH - Middle Aged
-MH - Aged
+MH - Male
MH - *Immunotherapy, Adoptive/adverse effects/methods
+MH - Middle Aged
MH - Lymphocyte Count
-MH - Treatment Outcome
+MH - Aged
MH - *Lymphocytes/drug effects
-MH - Adult
MH - Receptors, Chimeric Antigen
PMC - PMC13207623
COIS- Conflict-of-interest disclosure: P.A.F. reports consulting fees from Johnson &
diff --git a/data/literature/CNBP_batch_01.txt b/data/literature/CNBP_batch_01.txt
index 22e85539..b4362af0 100644
--- a/data/literature/CNBP_batch_01.txt
+++ b/data/literature/CNBP_batch_01.txt
@@ -180,17 +180,18 @@ SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
PMID- 42003432
OWN - NLM
STAT- MEDLINE
-DCOM- 20260518
-LR - 20260518
+DCOM- 20260622
+LR - 20260625
IS - 1754-8411 (Electronic)
+IS - 1754-8403 (Print)
IS - 1754-8403 (Linking)
VI - 19
IP - 5
DP - 2026 May 1
TI - Distinct cellular effects of myotonic dystrophy type 2 repeat-associated non-AUG
tetrapeptides.
-LID - dmm052729 [pii]
LID - 10.1242/dmm.052729 [doi]
+LID - dmm052729
AB - Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystemic disorder
caused by the expansion of CCTG repeats in the first intron of the CNBP gene.
Repeat-associated non-AUG (RAN) translation of the expanded CCTG RNA generates
@@ -276,31 +277,32 @@ GR - B53D23024810001/Ministero dell'Universita e della Ricerca/
GR - B53D23024800001/Ministero dell'Universita e della Ricerca/
GR - GMR22T1027/Fondazione Telethon /
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260518
PL - England
TA - Dis Model Mech
JT - Disease models & mechanisms
JID - 101483332
RN - 0 (Peptides)
+RN - 0 (Codon, Initiator)
RN - 0 (Drosophila Proteins)
-RN - 26700-71-0 (polyglutamine)
+RN - 0 (CNBP protein, human)
RN - 0 (RNA-Binding Proteins)
-RN - 0 (RNA, Ribosomal)
-RN - 0 (Oligopeptides)
SB - IM
-MH - *Myotonic Dystrophy/pathology/genetics
-MH - Humans
-MH - Drosophila melanogaster/genetics/metabolism
MH - Animals
+MH - Humans
+MH - *Myotonic Dystrophy/genetics/pathology
+MH - Drosophila melanogaster/metabolism
MH - Autophagy/genetics
-MH - Peptides/metabolism
-MH - Drosophila Proteins/metabolism/genetics
-MH - Cell Nucleolus/metabolism
+MH - *Peptides/metabolism/chemistry
MH - Eye/pathology
+MH - *Codon, Initiator
+MH - Cell Nucleolus/metabolism
+MH - Drosophila Proteins/metabolism
+MH - *Repetitive Sequences, Amino Acid
MH - Myoblasts/metabolism/pathology
-MH - RNA-Binding Proteins/metabolism
-MH - RNA, Ribosomal/metabolism
-MH - *Oligopeptides/metabolism
+MH - RNA-Binding Proteins
+PMC - PMC13225714
OTO - NOTNLM
OT - Drosophila melanogaster
OT - LPAC
@@ -311,13 +313,16 @@ OT - Repeat expansion disorders
COIS- Competing interests The authors declare no competing or financial interests.
EDAT- 2026/04/20 13:10
MHDA- 2026/05/18 06:31
+PMCR- 2026/05/18
CRDT- 2026/04/20 04:43
PHST- 2025/11/03 00:00 [received]
PHST- 2026/04/09 00:00 [accepted]
PHST- 2026/05/18 06:31 [medline]
PHST- 2026/04/20 13:10 [pubmed]
PHST- 2026/04/20 04:43 [entrez]
+PHST- 2026/05/18 00:00 [pmc-release]
AID - 371398 [pii]
+AID - dmm052729 [pii]
AID - 10.1242/dmm.052729 [doi]
PST - ppublish
SO - Dis Model Mech. 2026 May 1;19(5):dmm052729. doi: 10.1242/dmm.052729. Epub 2026
@@ -325,8 +330,9 @@ SO - Dis Model Mech. 2026 May 1;19(5):dmm052729. doi: 10.1242/dmm.052729. Epub
PMID- 41937177
OWN - NLM
-STAT- In-Process
-LR - 20260524
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1479-7364 (Electronic)
IS - 1473-9542 (Print)
IS - 1473-9542 (Linking)
@@ -338,29 +344,28 @@ TI - The novel (TCTG)(n) motif in CNBP expanded alleles: composition, dynamics
LID - 10.1186/s40246-026-00954-7 [doi]
LID - 87
AB - Introduction. Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder
- caused by (CCTG)(n) repeat expansions in intron 1 of the CNBP gene. Recent
- evidence from long-read sequencing suggests these expansions may be more complex
- than previously recognized. Aim. To comprehensively characterize the composition,
- intergenerational dynamics, and clinical impact of novel (TCTG)(n) motifs within
+ caused by (CCTG)n repeat expansions in intron 1 of the CNBP gene. Recent evidence
+ from long-read sequencing suggests these expansions may be more complex than
+ previously recognized. Aim. To comprehensively characterize the composition,
+ intergenerational dynamics, and clinical impact of novel (TCTG)n motifs within
the CNBP expanded alleles in a large DM2 cohort. Methods. We analyzed 100
genetically confirmed DM2 individuals (45 sporadic, 55 familial). The presence of
- (TCTG)(n) blocks was detected using an optimized quadruplet-repeat primed PCR
+ (TCTG)n blocks was detected using an optimized quadruplet-repeat primed PCR
(QP-PCR) assay coupled with Sanger sequencing. In a subset of nine patients,
Cas9-mediated enrichment followed by Nanopore Long-Read Sequencing (LRS) provided
nucleotide-level resolution of the expanded alleles. Haplotype analysis was
- performed using STR markers. Results. We identified (TCTG)(n) blocks at the 3'
- end of the expansion in 88% of patients. This refined assay corrected nine
- initial false-negative diagnoses from standard testing. LRS analysis confirmed
- the composition and revealed the dynamics of the (TCTG)(n) tract in familial
+ performed using STR markers. Results. We identified (TCTG)n blocks at the 3' end
+ of the expansion in 88% of patients. This refined assay corrected nine initial
+ false-negative diagnoses from standard testing. LRS analysis confirmed the
+ composition and revealed the dynamics of the (TCTG)n tract in familial
transmission, showing a tendency for contraction and, in one case, complete loss.
Genotype-phenotype correlation analysis indicated that the presence of the
- (TCTG)(n) motif acts as a disease modifier, significantly influencing the age of
+ (TCTG)n motif acts as a disease modifier, significantly influencing the age of
onset. Conclusion. The detailed characterization of the CNBP expansion reveals
- the novel (TCTG)(n) component that is integral to the DM2 genotype. Understanding
+ the novel (TCTG)n component that is integral to the DM2 genotype. Understanding
its composition and dynamics enhances diagnostic accuracy and provides a new
framework for genetic counselling, prognostic stratification and future
- personalized therapies. . SUPPLEMENTARY INFORMATION: The online version contains
- supplementary material available at 10.1186/s40246-026-00954-7.
+ personalized therapies. .
FAU - Centofanti, Federica
AU - Centofanti F
AD - Department of Biomedicine and Prevention, Medical Genetics Section, University of
@@ -443,7 +448,21 @@ PL - England
TA - Hum Genomics
JT - Human genomics
JID - 101202210
+RN - 0 (CNBP protein, human)
+RN - 0 (RNA-Binding Proteins)
SB - IM
+MH - Humans
+MH - *Myotonic Dystrophy/genetics/pathology
+MH - Alleles
+MH - *RNA-Binding Proteins/genetics
+MH - Genetic Association Studies
+MH - Female
+MH - Male
+MH - Haplotypes/genetics
+MH - *DNA Repeat Expansion/genetics
+MH - Adult
+MH - Middle Aged
+MH - Introns/genetics
PMC - PMC13195993
OTO - NOTNLM
OT - CNBP repeat expansions
@@ -457,13 +476,13 @@ COIS- Declarations. Ethics approval and consent to participate: The study was ap
the Declaration of Helsinki. Informed consent was obtained from all participants.
Competing interests: The authors declare no competing interests.
EDAT- 2026/04/06 00:31
-MHDA- 2026/04/06 00:31
+MHDA- 2026/06/27 18:38
PMCR- 2026/04/05
CRDT- 2026/04/05 23:44
PHST- 2025/12/22 00:00 [received]
PHST- 2026/03/18 00:00 [accepted]
+PHST- 2026/06/27 18:38 [medline]
PHST- 2026/04/06 00:31 [pubmed]
-PHST- 2026/04/06 00:31 [medline]
PHST- 2026/04/05 23:44 [entrez]
PHST- 2026/04/05 00:00 [pmc-release]
AID - 10.1186/s40246-026-00954-7 [pii]
@@ -475,8 +494,8 @@ SO - Hum Genomics. 2026 Apr 5;20(1):87. doi: 10.1186/s40246-026-00954-7.
PMID- 41610137
OWN - NLM
STAT- MEDLINE
-DCOM- 20260129
-LR - 20260430
+DCOM- 20260701
+LR - 20260701
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 21
@@ -570,17 +589,20 @@ TA - PLoS One
JT - PloS one
JID - 101285081
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (RNA-Binding Proteins)
SB - IM
MH - Animals
-MH - *Myotonic Dystrophy/pathology/genetics/veterinary/metabolism
+MH - *Myotonic Dystrophy/genetics/pathology/veterinary/metabolism
+MH - *Muscle, Skeletal/pathology/metabolism/growth & development
MH - Horses
-MH - *Muscle, Skeletal/pathology/metabolism
MH - *Muscle Fibers, Skeletal/pathology/metabolism
+MH - Myotonin-Protein Kinase/genetics
MH - Cell Differentiation
+MH - Muscle Development/genetics
MH - *Horse Diseases/genetics/pathology/metabolism
-MH - Myotonin-Protein Kinase/genetics
-MH - *Morphogenesis/genetics
-MH - Trinucleotide Repeat Expansion
+MH - *Morphogenesis
+MH - RNA-Binding Proteins/genetics
+MH - Proteomics
PMC - PMC12854428
COIS- Dr. Valberg directs the Neuromuscular Diagnostic Laboratory and receives
financial remuneration for interpreting muscle biopsies. She also received
diff --git a/data/literature/CSTB_batch_01.txt b/data/literature/CSTB_batch_01.txt
index 8ea68330..60df82cc 100644
--- a/data/literature/CSTB_batch_01.txt
+++ b/data/literature/CSTB_batch_01.txt
@@ -587,7 +587,7 @@ PMID- 40340521
OWN - NLM
STAT- MEDLINE
DCOM- 20250808
-LR - 20250813
+LR - 20260629
IS - 1708-8283 (Electronic)
IS - 0883-0738 (Linking)
VI - 40
@@ -611,12 +611,12 @@ AB - Progressive myoclonic epilepsy is a heterogeneous group of disorders
FAU - Aripirala, Prasanthi
AU - Aripirala P
AD - Rainbow Children's Hospital, Hyder Nagar, Banjara Hills, Hyderabad, Telangana,
- India. RINGGOLD: 272428
+ India.
FAU - Jagtap, Sujit Abajirao
AU - Jagtap SA
AUID- ORCID: 0000-0002-7512-2593
AD - Bajaj Allianz Comprehensive Center for Epilepsy Care, Deenanath Mangeshkar
- Hospital and Research Centre, Pune, Maharashtra, India. RINGGOLD: 76038
+ Hospital and Research Centre, Pune, Maharashtra, India.
LA - eng
PT - Case Reports
PT - Journal Article
diff --git a/data/literature/DMD_batch_01.txt b/data/literature/DMD_batch_01.txt
index ad674c9a..040c3181 100644
--- a/data/literature/DMD_batch_01.txt
+++ b/data/literature/DMD_batch_01.txt
@@ -1,8 +1,9 @@
PMID- 41906116
OWN - NLM
-STAT- In-Process
-LR - 20260513
+STAT- MEDLINE
+DCOM- 20260628
+LR - 20260630
IS - 1755-8794 (Electronic)
IS - 1755-8794 (Linking)
VI - 19
@@ -43,13 +44,25 @@ AD - Tongji Hospital of Tongji Medical College of Huazhong University of Scienc
Technology, Wuhan, China. lyan3022@163.com.
LA - eng
GR - 2022CFB203/Natural Science Foundation of Hubei Province Project/
+PT - Case Reports
PT - Journal Article
DEP - 20260329
PL - England
TA - BMC Med Genomics
JT - BMC medical genomics
JID - 101319628
+RN - 0 (Dystrophin)
+RN - 0 (DMD protein, human)
SB - IM
+MH - Humans
+MH - *Muscular Dystrophy, Duchenne/genetics
+MH - *Dystrophin/genetics
+MH - Pedigree
+MH - Male
+MH - Exons
+MH - Female
+MH - *Sequence Analysis, DNA
+MH - Mutation
PMC - PMC13159284
OTO - NOTNLM
OT - DMD gene
@@ -67,13 +80,13 @@ COIS- Declarations. Ethics approval and consent to participate: This study was a
participants, including case description and medical data. Competing interests:
The authors declare no competing interests.
EDAT- 2026/03/30 00:29
-MHDA- 2026/03/30 00:29
+MHDA- 2026/06/28 13:04
PMCR- 2026/03/29
CRDT- 2026/03/29 23:14
PHST- 2025/12/24 00:00 [received]
PHST- 2026/03/25 00:00 [accepted]
+PHST- 2026/06/28 13:04 [medline]
PHST- 2026/03/30 00:29 [pubmed]
-PHST- 2026/03/30 00:29 [medline]
PHST- 2026/03/29 23:14 [entrez]
PHST- 2026/03/29 00:00 [pmc-release]
AID - 10.1186/s12920-026-02352-3 [pii]
@@ -315,7 +328,7 @@ PMID- 41173008
OWN - NLM
STAT- MEDLINE
DCOM- 20251113
-LR - 20260131
+LR - 20260616
IS - 2213-6711 (Electronic)
IS - 2213-6711 (Linking)
VI - 20
@@ -409,6 +422,7 @@ AD - Cardiovascular and Muscular Diseases Center, Sanford Burnham Prebys Medica
LA - eng
GR - R01 AR056712/AR/NIAMS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20251030
PL - United States
TA - Stem Cell Reports
diff --git a/data/literature/DMPK_batch_01.txt b/data/literature/DMPK_batch_01.txt
index f663c481..8b58d914 100644
--- a/data/literature/DMPK_batch_01.txt
+++ b/data/literature/DMPK_batch_01.txt
@@ -1,9 +1,241 @@
+PMID- 42273033
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260611
+LR - 20260611
+IS - 1664-2295 (Print)
+IS - 1664-2295 (Electronic)
+IS - 1664-2295 (Linking)
+VI - 17
+DP - 2026
+TI - Neurofilament light chain reflects motor impairment in myotonic dystrophy type 1.
+PG - 1820238
+LID - 10.3389/fneur.2026.1820238 [doi]
+LID - 1820238
+AB - INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG
+ trinucleotide repeat expansion in the dystrophia myotonica-protein kinase (DMPK)
+ gene and is characterized by progressive muscle weakness with multisystemic
+ involvement, including the central nervous system (CNS). Neurofilament light
+ chain (NfL) has emerged as a biomarker of neuroaxonal damage in various
+ neurological conditions. This study aimed to evaluate plasma NfL as a biomarker
+ of disease severity by examining its association with motor function in
+ ambulatory patients with DM1. METHODS: Thirty-three DM1 patients and 31 controls
+ were enrolled. Plasma NfL levels were measured, and clinical variables including
+ age, sex, age at onset, and disease duration were collected. Motor function was
+ assessed using the Muscular Impairment Rating Scale (MIRS) and the 6-min walk
+ test (6MWT). Associations between NfL levels and clinical measures were analyzed
+ using partial correlation based on Kendall's Tau with adjustment for age.
+ RESULTS: Age-adjusted analyses demonstrated a significant positive correlation
+ between NfL levels and MIRS scores (tau = 0.387, p = 0.002) and a significant
+ negative correlation with 6MWT performance (tau = -0.344, p = 0.014). Disease
+ duration was also positively associated with age-adjusted NfL levels (tau = 0.334,
+ p = 0.007). Although NfL levels showed a negative correlation with peroneal CMAP
+ amplitudes, this association was not significant after age adjustment.
+ CONCLUSION: Plasma NfL levels were associated with disease duration and motor
+ function severity in DM1. These findings suggest that NfL may serve as a
+ biomarker reflecting not only neuroaxonal damage but also motor impairment in
+ DM1. Larger longitudinal studies are warranted to validate these findings.
+CI - Copyright (c) 2026 Shin, Seo, Kim, Park and Park.
+FAU - Shin, Chul Hwi
+AU - Shin CH
+AD - Department of Biomedical Science, The Graduate School, Kyungpook National
+ University, Daegu, Republic of Korea.
+FAU - Seo, Incheol
+AU - Seo I
+AD - Department of Immunology, School of Medicine, Kyungpook National University,
+ Daegu, Republic of Korea.
+FAU - Kim, Ye-Ri
+AU - Kim YR
+AD - Department of Immunology, School of Medicine, Kyungpook National University,
+ Daegu, Republic of Korea.
+FAU - Park, Jin-Mo
+AU - Park JM
+AD - Department of Neurology, Dongguk University College of Medicine, Dongguk
+ University Gyeongju Hospital, Gyeongju, Republic of Korea.
+FAU - Park, Jin-Sung
+AU - Park JS
+AD - Department of Neurology, School of Medicine, Kyungpook National University,
+ Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
+LA - eng
+PT - Journal Article
+DEP - 20260526
+PL - Switzerland
+TA - Front Neurol
+JT - Frontiers in neurology
+JID - 101546899
+PMC - PMC13247362
+OTO - NOTNLM
+OT - biomarkers
+OT - motor impairment
+OT - muscular impairment rating scale
+OT - myotonic dystrophy type 1
+OT - neurofilament light chain
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/06/11 06:36
+MHDA- 2026/06/11 06:37
+PMCR- 2026/05/26
+CRDT- 2026/06/11 04:50
+PHST- 2026/02/28 00:00 [received]
+PHST- 2026/04/15 00:00 [revised]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/06/11 06:37 [medline]
+PHST- 2026/06/11 06:36 [pubmed]
+PHST- 2026/06/11 04:50 [entrez]
+PHST- 2026/05/26 00:00 [pmc-release]
+AID - 10.3389/fneur.2026.1820238 [doi]
+PST - epublish
+SO - Front Neurol. 2026 May 26;17:1820238. doi: 10.3389/fneur.2026.1820238.
+ eCollection 2026.
+
+PMID- 42261605
+OWN - NLM
+STAT- Publisher
+LR - 20260609
+IS - 1096-9896 (Electronic)
+IS - 0022-3417 (Linking)
+DP - 2026 Jun 9
+TI - Optical mapping reveals a higher level of large-scale structural variants in a
+ family with paternally transmitted myotonic dystrophy and independent Parkinson's
+ disease.
+LID - 10.1002/path.70084 [doi]
+AB - Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem
+ neuromuscular hereditary disorder, with generational increase in severity and
+ earlier age at onset. It is caused by an unstable cytosine-thymine-guanine repeat
+ expansion at the DMPK locus, accompanied by associated genetic and epigenetic
+ modifications. While somatic mosaicism and meiotic instability are well
+ established, to the best of our knowledge, no study has performed a genome-wide
+ interrogation for global inherited instability. Performing whole-genome optical
+ mapping, with sequence base-resolved structural variant verification, we examine
+ global inherited genomic instability in an atypical paternally transmitted DM1
+ family presenting with a range of neurological manifestations, including
+ early-onset Parkinson's disease (PD). While the juvenile-onset DM1 proband
+ presented with a 10-fold repeat expansion with associated hypermethylation, her
+ partially hypermethylated asymptomatic protomutation father transmitted a
+ 1.8-fold contracted allele in the younger premutation sibling. Adult-onset
+ symptomatic DM1 and PD phenotypic paternal aunts showed significant genome-wide
+ copy number alteration, including PD-associated chr19 aneuploidy loss, with
+ additional losses on chr16, 17, and 22. In the absence of potentially pathogenic
+ de novo or maternally inherited structural variants, the proband presented with
+ large paternally inherited aberrations impacting gene candidates CASC15, CBFA2T3,
+ GPHN, H3F3A, SDK1, and SPAG16, with advanced global hypomethylation. Here we
+ suggest that inherited genomic instability may contribute to phenotypic
+ variability, including multi-neurological presentations and single-generation
+ repeat expansion or contraction. By providing a landscape of inherited large
+ structural variants, this single-family study expands knowledge of this broad and
+ growing class of diseases. (c) 2026 The Author(s). The Journal of Pathology
+ published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great
+ Britain and Ireland.
+CI - (c) 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd
+ on behalf of The Pathological Society of Great Britain and Ireland.
+FAU - Hasan, Md Mehedi
+AU - Hasan MM
+AD - Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of
+ Medical Sciences, Faculty of Medicine and Health, University of Sydney,
+ Camperdown, New South Wales, Australia.
+FAU - Craddock, Jenna
+AU - Craddock J
+AD - Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of
+ Medical Sciences, Faculty of Medicine and Health, University of Sydney,
+ Camperdown, New South Wales, Australia.
+AD - School of Health Systems and Public Health, University of Pretoria, Pretoria,
+ South Africa.
+FAU - Gong, Tingting
+AU - Gong T
+AD - Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of
+ Medical Sciences, Faculty of Medicine and Health, University of Sydney,
+ Camperdown, New South Wales, Australia.
+AD - Human Phenome Institute, Fudan University, Shanghai, PR China.
+FAU - Lyons, Ruth J
+AU - Lyons RJ
+AD - Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn
+ Cancer Centre, Darlinghurst, New South Wales, Australia.
+FAU - Stevanovski, Igor
+AU - Stevanovski I
+AD - Genomics and Inherited Disease Program, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+AD - Centre for Population Genomics, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+FAU - Chintalaphani, Sanjog R
+AU - Chintalaphani SR
+AD - Genomics and Inherited Disease Program, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+AD - Centre for Population Genomics, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+FAU - Deveson, Ira W
+AU - Deveson IW
+AD - Genomics and Inherited Disease Program, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+AD - Faculty of Medicine and Health, University of New South Wales, Sydney, New South
+ Wales, Australia.
+FAU - Jaratlerdsiri, Weerachai
+AU - Jaratlerdsiri W
+AD - Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of
+ Medical Sciences, Faculty of Medicine and Health, University of Sydney,
+ Camperdown, New South Wales, Australia.
+AD - Computational Genomics Group, Charles Perkins Centre, School of Medical Sciences,
+ Faculty of Medicine and Health, University of Sydney, Camperdown, New South
+ Wales, Australia.
+FAU - Kumar, Kishore R
+AU - Kumar KR
+AD - Genomics and Inherited Disease Program, The Garvan Institute of Medical Research,
+ Darlinghurst, New South Wales, Australia.
+AD - Faculty of Medicine and Health, University of New South Wales, Sydney, New South
+ Wales, Australia.
+AD - ANZAC Research Institute, Neurology Department and Molecular Medicine Laboratory,
+ Concord Repatriation General Hospital, Sydney Local Health District, University
+ of Sydney, Concord, New South Wales, Australia.
+FAU - Hayes, Vanessa M
+AU - Hayes VM
+AUID- ORCID: 0000-0002-4524-7280
+AD - Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of
+ Medical Sciences, Faculty of Medicine and Health, University of Sydney,
+ Camperdown, New South Wales, Australia.
+AD - School of Health Systems and Public Health, University of Pretoria, Pretoria,
+ South Africa.
+AD - Manchester Cancer Research Centre, University of Manchester, Manchester, UK.
+AD - Norwich Medical School, University of East Anglia, Norwich, UK.
+LA - eng
+GR - Sydney Cancer Partners/
+GR - 2021/GNT2010551/National Health and Medical Research Council/
+GR - 2025/MRF2045394/National Health and Medical Research Council/
+GR - PC210168/Congressionally Directed Medical Research Programs/
+GR - PC230673/Congressionally Directed Medical Research Programs/
+GR - Petre Foundation/
+GR - Cancer Institute NSW/
+PT - Journal Article
+DEP - 20260609
+PL - England
+TA - J Pathol
+JT - The Journal of pathology
+JID - 0204634
+SB - IM
+OTO - NOTNLM
+OT - early-onset Parkinson's disease
+OT - genomic instability
+OT - myotonic dystrophy type 1
+OT - optical genome mapping
+OT - paternal inheritance
+EDAT- 2026/06/09 06:34
+MHDA- 2026/06/09 06:34
+CRDT- 2026/06/09 04:13
+PHST- 2026/02/10 00:00 [revised]
+PHST- 2025/07/06 00:00 [received]
+PHST- 2026/04/29 00:00 [accepted]
+PHST- 2026/06/09 06:34 [medline]
+PHST- 2026/06/09 06:34 [pubmed]
+PHST- 2026/06/09 04:13 [entrez]
+AID - 10.1002/path.70084 [doi]
+PST - aheadofprint
+SO - J Pathol. 2026 Jun 9. doi: 10.1002/path.70084.
+
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -156,12 +388,13 @@ SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
PMID- 42133999
OWN - NLM
-STAT- Publisher
-LR - 20260514
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260613
IS - 1876-7753 (Electronic)
IS - 1873-5061 (Linking)
VI - 94
-DP - 2026 May 10
+DP - 2026 Aug
TI - Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG
repeat lengths.
PG - 104013
@@ -217,7 +450,17 @@ PL - England
TA - Stem Cell Res
JT - Stem cell research
JID - 101316957
+RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (DMPK protein, human)
SB - IM
+MH - Humans
+MH - *Induced Pluripotent Stem Cells/metabolism/pathology/cytology
+MH - *Myotonic Dystrophy/genetics/pathology/metabolism
+MH - Myotonin-Protein Kinase/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Cell Line
+MH - Cell Differentiation
+MH - Fibroblasts/metabolism
COIS- Declaration of competing interest The authors declare the following financial
interests/personal relationships which may be considered as potential competing
interests: Several authors of this publication are members of the Radboudumc
@@ -226,131 +469,25 @@ COIS- Declaration of competing interest The authors declare the following financ
neuromuscular diseases (EURO-NMD). The authors declare no competing financial or
personal interests.
EDAT- 2026/05/14 18:36
-MHDA- 2026/05/14 18:36
+MHDA- 2026/06/15 11:30
CRDT- 2026/05/14 17:59
PHST- 2026/03/25 00:00 [received]
PHST- 2026/04/29 00:00 [revised]
PHST- 2026/05/09 00:00 [accepted]
-PHST- 2026/05/14 18:36 [medline]
+PHST- 2026/06/15 11:30 [medline]
PHST- 2026/05/14 18:36 [pubmed]
PHST- 2026/05/14 17:59 [entrez]
AID - S1873-5061(26)00109-1 [pii]
AID - 10.1016/j.scr.2026.104013 [doi]
-PST - aheadofprint
-SO - Stem Cell Res. 2026 May 10;94:104013. doi: 10.1016/j.scr.2026.104013.
-
-PMID- 41996006
-OWN - NLM
-STAT- Publisher
-LR - 20260417
-IS - 1179-2000 (Electronic)
-IS - 1177-1062 (Linking)
-DP - 2026 Apr 17
-TI - Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy
- Type 1: Current Status and Future Directions.
-LID - 10.1007/s40291-026-00848-3 [doi]
-AB - Myotonic dystrophy type 1 is the most prevalent adult-onset muscular dystrophy
- and is characterized by progressive muscle weakness, myotonia, cardiac conduction
- defects, endocrine dysfunction, and central nervous system involvement. Myotonic
- dystrophy type 1 is caused by an unstable CTG repeat expansion in the 3'
- untranslated region of the DMPK gene, which produces toxic CUG-expanded
- transcripts that sequester RNA-binding proteins such as Muscleblind-like, induce
- widespread alternative splicing defects, and drive an RNA gain-of-function
- mechanism rather than simple DMPK haploinsufficiency. Despite major advances in
- understanding the molecular pathogenesis of myotonic dystrophy type 1, there is
- still no approved cure or disease-modifying therapy. This review summarizes the
- molecular basis of myotonic dystrophy type 1 and provides an in-depth overview of
- emerging therapeutic strategies that directly target the underlying pathogenic
- cascade at the DNA and RNA levels. Gene therapy-based approaches, including
- CRISPR-mediated genome editing, aim to reduce or eliminate the expanded CTG
- repeats or expanded DMPK allele and its toxic transcripts. In parallel, a broad
- spectrum of RNA-directed interventions is being developed, encompassing antisense
- oligonucleotides, antibody-penetrating and cell-penetrating peptide-conjugated
- antisense oligonucleotides to enhance skeletal and cardiac muscle delivery, small
- interfering RNAs, and microRNA-based tools such as antagomiRs. Additional
- strategies exploit engineered RNA-binding proteins and peptide decoys to disrupt
- toxic ribonuclear aggregates, polyadenylation signal-driven premature
- transcriptional termination to selectively silence mutant DMPK, and small
- molecules that modulate RNA metabolism, dissolve CUG RNA foci, or correct
- downstream mis-splicing. By integrating data from preclinical models and ongoing
- clinical trials, including recent advances with muscle‑targeted antisense
- oligonucleotide conjugates and gene therapy, this review outlines the current
- status, strengths, and limitations of these mechanism-based therapies for
- myotonic dystrophy type 1. The discussion highlights key translational challenges
- such as efficient delivery to skeletal muscle, the heart, and brain, long-term
- safety, and robust pharmacodynamic biomarkers as well as opportunities for
- combination and next-generation approaches aimed at converting molecular
- correction into durable clinical benefit for patients with myotonic dystrophy
- type 1.
-CI - (c) 2026. The Author(s), under exclusive licence to Springer Nature Switzerland AG.
-FAU - Chahine, Mohamed
-AU - Chahine M
-AUID- ORCID: 0000-0002-9500-2839
-AD - CERVO Brain Research Centre, 2601, chemin de la Canardiere, Quebec City, QC, G1J
- 2G3, Canada. Mohamed.Chahine@phc.ulaval.ca.
-AD - Department of Medicine, Faculty of Medicine, Universite Laval, Quebec City, QC,
- Canada. Mohamed.Chahine@phc.ulaval.ca.
-FAU - Ginjupalli, Vamsi Krishna Murthy
-AU - Ginjupalli VKM
-AD - Department of Medicine, Faculty of Medicine, Universite Laval, Quebec City, QC,
- Canada.
-AD - Cardiovascular Research Program, VA New York Harbor Health Care System, Brooklyn,
- NY, USA.
-FAU - Jauvin, Dominic
-AU - Jauvin D
-AD - CERVO Brain Research Centre, 2601, chemin de la Canardiere, Quebec City, QC, G1J
- 2G3, Canada.
-FAU - Boutjdir, Mohamed
-AU - Boutjdir M
-AD - Cardiovascular Research Program, VA New York Harbor Health Care System, Brooklyn,
- NY, USA.
-AD - Departments of Medicine, Cell Biology and Pharmacology, SUNY Downstate Health
- Sciences University, Brooklyn, NY, USA.
-AD - Department of Medicine, New York University Grossman School of Medicine, New
- York, NY, USA.
-LA - eng
-GR - USAMRAA W81XWH-21-1-0426/U.S. Department of Defense/
-GR - W81XWH-21-1-0424/U.S. Department of Defense/
-GR - 451090/Canadian Institute of Health Research/
-PT - Journal Article
-DEP - 20260417
-PL - New Zealand
-TA - Mol Diagn Ther
-JT - Molecular diagnosis & therapy
-JID - 101264260
-SB - IM
-COIS- Declarations. Funding: This work was supported by a US Department of Defense
- grant (USAMRAA W81XWH-21-1-0426) to Mohamed Chahine, a US Department of Defense
- award (W81XWH-21-1-0424) to Mohamed Boutjdir. This work was also supported by the
- Canadian Institutes of Health Research (451090). Competing interests: Mohamed
- Chahine, Vamsi Krishna Murthy Ginjupalli, Dominic Jauvin, and Mohamed Boutjdir
- have no conflicts of interest that are directly relevant to the content of this
- article. Ethics approval: Not applicable. Consent to participate: Not applicable.
- Consent for publication: Not applicable. Authors' contributions: MC
- conceptualized the study. MC and MB acquired the funding and managed the project.
- MC supervised the project. MC wrote the original draft. MC, DJ, VKMG, and MB
- reviewed and edited the manuscript draft. All authors read and approved the final
- version of the manuscript. Availability of data and material: Data sharing is not
- applicable to this article as no datasets were generated or analyzed during the
- current study. Code availability: Not applicable.
-EDAT- 2026/04/18 07:10
-MHDA- 2026/04/18 07:10
-CRDT- 2026/04/17 11:24
-PHST- 2025/08/19 00:00 [received]
-PHST- 2026/03/22 00:00 [accepted]
-PHST- 2026/04/18 07:10 [medline]
-PHST- 2026/04/18 07:10 [pubmed]
-PHST- 2026/04/17 11:24 [entrez]
-AID - 10.1007/s40291-026-00848-3 [pii]
-AID - 10.1007/s40291-026-00848-3 [doi]
-PST - aheadofprint
-SO - Mol Diagn Ther. 2026 Apr 17. doi: 10.1007/s40291-026-00848-3.
+PST - ppublish
+SO - Stem Cell Res. 2026 Aug;94:104013. doi: 10.1016/j.scr.2026.104013. Epub 2026 May
+ 10.
PMID- 41974889
OWN - NLM
STAT- MEDLINE
-DCOM- 20260505
-LR - 20260508
+DCOM- 20260622
+LR - 20260629
IS - 2092-6413 (Electronic)
IS - 1226-3613 (Print)
IS - 1226-3613 (Linking)
@@ -407,16 +544,15 @@ TA - Exp Mol Med
JT - Experimental & molecular medicine
JID - 9607880
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
-RN - 0 (DMPK protein, human)
SB - IM
MH - *Myotonic Dystrophy/genetics/diagnosis
MH - Humans
-MH - DNA Methylation
+MH - Myotonin-Protein Kinase/genetics
MH - *High-Throughput Nucleotide Sequencing/methods
+MH - DNA Methylation
+MH - Sequence Analysis, DNA/methods
MH - Nanopore Sequencing/methods
-MH - Myotonin-Protein Kinase/genetics
MH - Algorithms
-MH - Sequence Analysis, DNA/methods
MH - Cell Line
PMC - PMC13144457
COIS- Competing interests: Y.H., J.-H.J., and H.C. have filed patents on 'a method for
@@ -1157,12 +1293,13 @@ SO - Nature. 2026 May;653(8115):796-808. doi: 10.1038/s41586-026-10345-6. Epub
PMID- 41946260
OWN - NLM
-STAT- Publisher
-LR - 20260407
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260613
IS - 1876-7753 (Electronic)
IS - 1873-5061 (Linking)
VI - 94
-DP - 2026 Apr 1
+DP - 2026 Aug
TI - Generation and characterization of two human induced pluripotent stem cell lines
from myotonic dystrophy type 1 patients.
PG - 103977
@@ -1223,29 +1360,37 @@ TA - Stem Cell Res
JT - Stem cell research
JID - 101316957
SB - IM
+MH - Humans
+MH - *Induced Pluripotent Stem Cells/metabolism/cytology/pathology
+MH - *Myotonic Dystrophy/pathology/metabolism/genetics
+MH - Female
+MH - Cell Line
+MH - Cell Differentiation
+MH - Leukocytes, Mononuclear/metabolism/cytology
COIS- Declaration of competing interest The authors declare the following financial
interests/personal relationships which may be considered as potential competing
interests: Dr. Joseph C. Wu is a co-founder and scientific advisory board member
of Greenstone Biosciences.
EDAT- 2026/04/08 00:30
-MHDA- 2026/04/08 00:30
+MHDA- 2026/06/15 11:35
CRDT- 2026/04/07 18:07
PHST- 2025/10/19 00:00 [received]
PHST- 2026/03/27 00:00 [revised]
PHST- 2026/03/31 00:00 [accepted]
-PHST- 2026/04/08 00:30 [medline]
+PHST- 2026/06/15 11:35 [medline]
PHST- 2026/04/08 00:30 [pubmed]
PHST- 2026/04/07 18:07 [entrez]
AID - S1873-5061(26)00073-5 [pii]
AID - 10.1016/j.scr.2026.103977 [doi]
-PST - aheadofprint
-SO - Stem Cell Res. 2026 Apr 1;94:103977. doi: 10.1016/j.scr.2026.103977.
+PST - ppublish
+SO - Stem Cell Res. 2026 Aug;94:103977. doi: 10.1016/j.scr.2026.103977. Epub 2026 Apr
+ 1.
PMID- 41855125
OWN - NLM
STAT- MEDLINE
-DCOM- 20260508
-LR - 20260522
+DCOM- 20260620
+LR - 20260620
IS - 2379-3708 (Electronic)
IS - 2379-3708 (Linking)
VI - 11
@@ -1253,8 +1398,8 @@ IP - 9
DP - 2026 May 8
TI - Progressive cardiac phenotypes and reduced reversibility from long-term CUGexp
RNA expression in a DM1 mouse model.
-LID - e204278 [pii]
LID - 10.1172/jci.insight.204278 [doi]
+LID - e204278
AB - Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK
gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci
and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic,
@@ -1299,36 +1444,39 @@ PL - United States
TA - JCI Insight
JT - JCI insight
JID - 101676073
-RN - 0 (RNA-Binding Proteins)
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (RNA-Binding Proteins)
RN - 0 (DMPK protein, mouse)
SB - IM
MH - Animals
-MH - *Myotonic Dystrophy/genetics/pathology/metabolism/physiopathology
+MH - *Myotonic Dystrophy/genetics/pathology/metabolism
MH - Mice
-MH - Mice, Transgenic
MH - Disease Models, Animal
-MH - RNA-Binding Proteins/metabolism/genetics
+MH - Mice, Transgenic
+MH - *Myotonin-Protein Kinase/genetics
MH - Disease Progression
-MH - Myotonin-Protein Kinase/genetics
-MH - Trinucleotide Repeat Expansion
+MH - Trinucleotide Repeat Expansion/genetics
+MH - RNA-Binding Proteins/metabolism/genetics
MH - Phenotype
MH - Myocardium/pathology/metabolism
-MH - Humans
+PMC - PMC13232024
OTO - NOTNLM
OT - Cardiology
OT - Cardiovascular disease
OT - Genetic diseases
OT - Genetics
OT - Molecular biology
+COIS- The authors have declared that no conflict of interest exists.
EDAT- 2026/03/19 21:44
MHDA- 2026/05/08 12:37
+PMCR- 2026/03/19
CRDT- 2026/03/19 13:23
PHST- 2026/01/06 00:00 [received]
PHST- 2026/03/10 00:00 [accepted]
PHST- 2026/05/08 12:37 [medline]
PHST- 2026/03/19 21:44 [pubmed]
PHST- 2026/03/19 13:23 [entrez]
+PHST- 2026/03/19 00:00 [pmc-release]
AID - 204278 [pii]
AID - 10.1172/jci.insight.204278 [doi]
PST - epublish
@@ -1339,7 +1487,7 @@ PMID- 41848171
OWN - NLM
STAT- MEDLINE
DCOM- 20260318
-LR - 20260524
+LR - 20260701
IS - 1365-2990 (Electronic)
IS - 0305-1846 (Print)
IS - 0305-1846 (Linking)
@@ -1419,20 +1567,20 @@ TA - Neuropathol Appl Neurobiol
JT - Neuropathology and applied neurobiology
JID - 7609829
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
-RN - 63231-63-0 (RNA)
RN - 0 (RNA-Binding Proteins)
+RN - 63231-63-0 (RNA)
SB - IM
-MH - *Myotonic Dystrophy/genetics/pathology
-MH - *Cell Differentiation/physiology/genetics
+MH - *Myotonic Dystrophy/genetics/pathology/metabolism
+MH - *Muscle Development/genetics
+MH - *Cell Differentiation/genetics
MH - Humans
-MH - *Muscle Development/genetics/physiology
MH - *Myoblasts/metabolism
-MH - Phenotype
MH - Alternative Splicing
-MH - Cell Line
+MH - Phenotype
MH - Myotonin-Protein Kinase/genetics
-MH - *RNA/genetics/metabolism
+MH - Cell Line
MH - RNA-Binding Proteins/genetics
+MH - RNA/genetics
PMC - PMC12997521
OTO - NOTNLM
OT - DMPK
@@ -1543,8 +1691,8 @@ SO - Ann Neurosci. 2026 Feb 25:09727531251409516. doi: 10.1177/0972753125140951
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -1718,18 +1866,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -1761,7 +1907,7 @@ PMID- 41722569
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260527
+LR - 20260613
IS - 1537-6605 (Electronic)
IS - 0002-9297 (Print)
IS - 0002-9297 (Linking)
@@ -1906,7 +2052,6 @@ AD - Human Translational Genomics Group, University Institute for Biotechnology
Spain. Electronic address: ruben.artero@uv.es.
LA - eng
PT - Journal Article
-PT - Research Support, Non-U.S. Gov't
DEP - 20260220
PL - United States
TA - Am J Hum Genet
@@ -1916,21 +2061,20 @@ RN - 0 (MicroRNAs)
RN - 0 (Oligonucleotides, Antisense)
RN - 0 (RNA-Binding Proteins)
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
-RN - 0 (MIRN23a microRNA, human)
RN - 0 (MBNL1 protein, human)
+RN - 0 (Mirn23b microRNA, mouse)
SB - IM
-MH - *Myotonic Dystrophy/genetics/drug therapy/pathology/metabolism
+MH - *Myotonic Dystrophy/genetics/therapy/pathology/drug therapy/metabolism
MH - Animals
MH - *MicroRNAs/genetics/antagonists & inhibitors
MH - Humans
-MH - *Oligonucleotides, Antisense/genetics/chemistry/pharmacology/pharmacokinetics
+MH - *Oligonucleotides, Antisense/pharmacokinetics/genetics/pharmacology
MH - Mice
-MH - RNA-Binding Proteins/genetics/metabolism
MH - *Muscle, Skeletal/metabolism/pathology
+MH - RNA-Binding Proteins/genetics/metabolism
MH - Myotonin-Protein Kinase/genetics
+MH - Myoblasts/metabolism
MH - Rats
-MH - Disease Models, Animal
-MH - Trinucleotide Repeat Expansion
MH - RNA Splicing/genetics
PMC - PMC13087422
OTO - NOTNLM
@@ -2391,8 +2535,8 @@ SO - Ann Lab Med. 2026 Feb 12. doi: 10.3343/alm.2025.0414.
PMID- 41610137
OWN - NLM
STAT- MEDLINE
-DCOM- 20260129
-LR - 20260430
+DCOM- 20260701
+LR - 20260701
IS - 1932-6203 (Electronic)
IS - 1932-6203 (Linking)
VI - 21
@@ -2486,17 +2630,20 @@ TA - PLoS One
JT - PloS one
JID - 101285081
RN - EC 2.7.11.1 (Myotonin-Protein Kinase)
+RN - 0 (RNA-Binding Proteins)
SB - IM
MH - Animals
-MH - *Myotonic Dystrophy/pathology/genetics/veterinary/metabolism
+MH - *Myotonic Dystrophy/genetics/pathology/veterinary/metabolism
+MH - *Muscle, Skeletal/pathology/metabolism/growth & development
MH - Horses
-MH - *Muscle, Skeletal/pathology/metabolism
MH - *Muscle Fibers, Skeletal/pathology/metabolism
+MH - Myotonin-Protein Kinase/genetics
MH - Cell Differentiation
+MH - Muscle Development/genetics
MH - *Horse Diseases/genetics/pathology/metabolism
-MH - Myotonin-Protein Kinase/genetics
-MH - *Morphogenesis/genetics
-MH - Trinucleotide Repeat Expansion
+MH - *Morphogenesis
+MH - RNA-Binding Proteins/genetics
+MH - Proteomics
PMC - PMC12854428
COIS- Dr. Valberg directs the Neuromuscular Diagnostic Laboratory and receives
financial remuneration for interpreting muscle biopsies. She also received
@@ -5092,7 +5239,7 @@ PMID- 40296143
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20260127
+LR - 20260621
IS - 1756-8935 (Electronic)
IS - 1756-8935 (Linking)
VI - 18
@@ -5991,7 +6138,7 @@ PMID- 39710066
OWN - NLM
STAT- MEDLINE
DCOM- 20250428
-LR - 20250519
+LR - 20260629
IS - 1096-1194 (Electronic)
IS - 0890-8508 (Linking)
VI - 79
@@ -6080,6 +6227,7 @@ AD - Institute of Clinical and Translational Research, Biomedical Research Cent
Slovakia. Electronic address: jradvanszky@gmail.com.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20241229
PL - England
TA - Mol Cell Probes
@@ -6507,7 +6655,7 @@ PMID- 39415708
OWN - NLM
STAT- MEDLINE
DCOM- 20250604
-LR - 20251018
+LR - 20260626
IS - 1098-5549 (Electronic)
IS - 0270-7306 (Print)
IS - 0270-7306 (Linking)
@@ -6579,6 +6727,8 @@ GR - R21 AR081472/AR/NIAMS NIH HHS/United States
GR - R01 AR060733/AR/NIAMS NIH HHS/United States
GR - P30 CA125123/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20241017
PL - United States
TA - Mol Cell Biol
@@ -25272,6 +25422,7 @@ PST - ppublish
SO - Acta Histochem Cytochem. 2010 Dec 29;43(6):149-56. doi: 10.1267/ahc.10019. Epub
2010 Dec 18.
+
PMID- 21204798
OWN - NLM
STAT- MEDLINE
@@ -25366,7 +25517,6 @@ PST - ppublish
SO - Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub
2011 Jan 19.
-
PMID- 21103235
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/FGF14_batch_01.txt b/data/literature/FGF14_batch_01.txt
index f79047f5..b1969a4b 100644
--- a/data/literature/FGF14_batch_01.txt
+++ b/data/literature/FGF14_batch_01.txt
@@ -1,4 +1,158 @@
+PMID- 42371259
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 4
+DP - 2026 Jun 29
+TI - Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel
+ Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.
+LID - 10.1007/s12311-026-02041-y [doi]
+LID - 102
+AB - Spinocerebellar ataxia type 27B is a recently described autosomal dominant,
+ late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the
+ fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent
+ adult-onset ataxia, its full clinical spectrum remains incompletely
+ understood. To characterize the neurological, cognitive, and paraclinical
+ phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand
+ the currently known motor and non-motor features, as well as to assess the
+ co-occurrence of other repeat expansions. In this cross-sectional single-center
+ study, patients with heterozygous FGF14 repeat expansions underwent standardized
+ neurological examination and cognitive screening. Paraclinical data were reviewed
+ when available. 18 patients were included in the study (mean age at onset: 64
+ [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most
+ commonly a lateral veering gait with corrective sidesteps. In addition to the
+ core known cerebellar phenotype, we identified other movement-disorder
+ manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with
+ nigrostriatal degeneration confirmed in one patient. Cognitive impairment was
+ common, with two-thirds of patients fulfilling criteria for cerebellar
+ cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]).
+ Worse CCAS and MoCA performance was associated with increasing ataxia severity.
+ FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with
+ heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three
+ patients. Earlier diagnostic misclassification as transient ischemic attack was
+ reported in 33%. These findings expand the known phenotype of spinocerebellar
+ ataxia type 27B, emphasizing it as a multisystem movement disorder.
+CI - (c) 2026. The Author(s).
+FAU - Rashedi, Ronak
+AU - Rashedi R
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Peemoller, Franca
+AU - Peemoller F
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Erdmann, Hannes
+AU - Erdmann H
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Gelderblom, Mathias
+AU - Gelderblom M
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Hidding, Ute
+AU - Hidding U
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Ganos, Christos
+AU - Ganos C
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+FAU - Chen, Robert
+AU - Chen R
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+AD - Division of Neurology, Department of Medicine, Krembil Research Institute,
+ University of Toronto, University Health Network, Toronto, ON, Canada.
+FAU - Abicht, Angela
+AU - Abicht A
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Zittel, Simone
+AU - Zittel S
+AUID- ORCID: 0000-0002-3767-6376
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany. s.zittel-dirks@uke.de.
+LA - eng
+PT - Journal Article
+DEP - 20260629
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - Spinocerebellar ataxia 27
+SB - IM
+MH - Humans
+MH - Female
+MH - Phenotype
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Adult
+MH - Cross-Sectional Studies
+MH - *Fibroblast Growth Factors/genetics
+MH - *Cognitive Dysfunction/genetics/physiopathology
+MH - *Spinocerebellar Degenerations/genetics/physiopathology
+MH - Trinucleotide Repeat Expansion/genetics
+MH - Aged, 80 and over
+MH - *Spinocerebellar Ataxias/genetics
+MH - *Movement Disorders/genetics
+MH - DNA Repeat Expansion
+PMC - PMC13315097
+OTO - NOTNLM
+OT - Cerebellar Cognitive Affective Syndrome
+OT - Repeat Expansion Disorders
+OT - Spinocerebellar Ataxia
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+ Financial Disclosures of all Authors (for the Preceding 12 Months): RR FP UH HE
+ MG CG RC AA SZ Stock Ownership in medically related fields None None None None
+ None None None None None Intellectual Property Rights None None None None None
+ None None None None Consultancies None None None None None None None None None
+ Expert Testimony None None None None None None Abbvie, Merz, Ipsen None None
+ Advisory Boards None None None None Merz, Abbvie, Biogen None None None None
+ Employment University Medical Center Hamburg Eppendorf None University Medical
+ Center Hamburg Eppendorf Medical Genetics Center Munich University Medical Center
+ Hamburg Eppendorf University Health Network, University of Toront None Medical
+ Genetics Center Munich University Medical Center Hamburg Eppendorf Partnerships
+ None None None None None None None None None Inventions None None None None None
+ None None None None Contracts University Medical Center Hamburg Eppendorf None
+ None Medical Genetics Center Munich University Medical Center Hamburg Eppendorf
+ University Health Network None Medical Genetics Center Munich University Medical
+ Center Hamburg Eppendorf Honoraria None None None None Merz, Abbvie, Biogen,
+ Nihon Kohden Xeomin for educational courses, Movement disorders society for
+ educational courses None None Biogen Royalties None None None None None None None
+ None None Patents None None None None None None None None None Grants None None
+ None None DFG None Canadian Institute of Health Research, Parkinson Foundation,
+ National Organization of Rare Diseases, Natural Science and Engineering Research
+ Council of Canada, Abbvie None UKE Foundation Other None None None None None None
+ None None None
+EDAT- 2026/06/29 12:33
+MHDA- 2026/06/29 12:34
+PMCR- 2026/06/29
+CRDT- 2026/06/29 11:25
+PHST- 2026/04/23 00:00 [received]
+PHST- 2026/06/19 00:00 [accepted]
+PHST- 2026/06/29 12:34 [medline]
+PHST- 2026/06/29 12:33 [pubmed]
+PHST- 2026/06/29 11:25 [entrez]
+PHST- 2026/06/29 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02041-y [pii]
+AID - 2041 [pii]
+AID - 10.1007/s12311-026-02041-y [doi]
+PST - epublish
+SO - Cerebellum. 2026 Jun 29;25(4):102. doi: 10.1007/s12311-026-02041-y.
+
PMID- 42204984
OWN - NLM
STAT- Publisher
@@ -89,8 +243,8 @@ SO - Clin Genet. 2026 May 28. doi: 10.1111/cge.70184.
PMID- 42178418
OWN - NLM
STAT- MEDLINE
-DCOM- 20260524
-LR - 20260527
+DCOM- 20260624
+LR - 20260624
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -200,28 +354,30 @@ LA - eng
GR - 101156595/HORIZON EUROPE Framework Programme/
GR - 01EO 1401/Bundesministerium fur Forschung und Technologie/
GR - 189963/CAPMC/CIHR/Canada
+PT - Case Reports
PT - Journal Article
DEP - 20260525
PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
RN - EC 3.6.4.- (Replication Protein C)
RN - 0 (RFC1 protein, human)
SB - IM
MH - Humans
-MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology
-MH - Male
+MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology/complications
MH - Female
-MH - Middle Aged
MH - Phenotype
MH - *Fibroblast Growth Factors/genetics
MH - *Replication Protein C/genetics
+MH - Male
+MH - Middle Aged
+MH - *DNA Repeat Expansion/genetics
MH - Adult
MH - Aged
-MH - *DNA Repeat Expansion/genetics
+MH - Heterozygote
PMC - PMC13199202
OTO - NOTNLM
OT - FGF14
@@ -274,8 +430,8 @@ SO - J Neurol. 2026 May 25;273(6):339. doi: 10.1007/s00415-026-13867-1.
PMID- 42168446
OWN - NLM
STAT- MEDLINE
-DCOM- 20260521
-LR - 20260524
+DCOM- 20260624
+LR - 20260624
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -367,23 +523,26 @@ PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
MH - Brazil/epidemiology
-MH - Male
MH - Female
-MH - Middle Aged
+MH - Male
MH - *Spinocerebellar Ataxias/genetics/epidemiology/physiopathology
+MH - Middle Aged
+MH - Genetic Association Studies
MH - Adult
-MH - Aged
MH - Phenotype
-MH - Genetic Association Studies
-MH - Disease Progression
MH - Cohort Studies
+MH - Disease Progression
MH - Age of Onset
-MH - Adolescent
+MH - Aged
+MH - Trinucleotide Repeat Expansion/genetics
MH - Young Adult
MH - Genotype
+MH - Fibroblast Growth Factors
PMC - PMC13194261
OTO - NOTNLM
OT - Ataxia
@@ -411,8 +570,8 @@ SO - J Neurol. 2026 May 21;273(6):326. doi: 10.1007/s00415-026-13880-4.
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -492,22 +651,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -540,8 +699,8 @@ SO - Cerebellum. 2026 May 7;25(3):73. doi: 10.1007/s12311-026-02003-4.
PMID- 42090775
OWN - NLM
STAT- MEDLINE
-DCOM- 20260514
-LR - 20260514
+DCOM- 20260623
+LR - 20260623
IS - 1878-5883 (Electronic)
IS - 0022-510X (Linking)
VI - 486
@@ -610,18 +769,25 @@ PL - Netherlands
TA - J Neurol Sci
JT - Journal of the neurological sciences
JID - 0375403
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - BH3B64OKL9 (4-Aminopyridine)
+RN - Spinocerebellar ataxia 27
SB - IM
MH - Humans
-MH - Male
MH - Female
+MH - Male
+MH - Retrospective Studies
MH - Middle Aged
MH - Aged
-MH - Retrospective Studies
-MH - *Spinocerebellar Ataxias/genetics/diagnosis/diagnostic imaging
-MH - Adult
+MH - *Fibroblast Growth Factors/genetics
+MH - *Spinocerebellar Ataxias/genetics/diagnosis
+MH - Trinucleotide Repeat Expansion/genetics
MH - Magnetic Resonance Imaging
+MH - 4-Aminopyridine/therapeutic use
MH - Cohort Studies
-MH - Trinucleotide Repeat Expansion/genetics
+MH - *Spinocerebellar Degenerations/genetics/diagnosis
+MH - Adult
OTO - NOTNLM
OT - Ataxia
OT - FGF14
@@ -709,8 +875,8 @@ SO - Parkinsonism Relat Disord. 2026 Apr 23:108329. doi:
PMID- 42044943
OWN - NLM
STAT- MEDLINE
-DCOM- 20260427
-LR - 20260427
+DCOM- 20260623
+LR - 20260623
IS - 2173-5808 (Electronic)
IS - 2173-5808 (Linking)
VI - 41
@@ -817,14 +983,13 @@ RN - 0 (fibroblast growth factor 14)
RN - 0 (Aminopyridines)
SB - IM
MH - Humans
+MH - *Nystagmus, Pathologic/genetics/drug therapy/complications
+MH - *Fibroblast Growth Factors/genetics
+MH - Female
MH - Middle Aged
MH - Male
-MH - Female
-MH - Aged
-MH - *Fibroblast Growth Factors/genetics
-MH - *Nystagmus, Pathologic/genetics/drug therapy/complications
MH - *Aminopyridines/therapeutic use
-MH - *Ataxia/genetics/drug therapy/complications
+MH - *Ataxia/drug therapy/genetics/complications
MH - Cohort Studies
MH - Treatment Outcome
OTO - NOTNLM
@@ -952,8 +1117,8 @@ SO - Neurology. 2026 Mar 24;106(6):e214754. doi: 10.1212/WNL.0000000000214754.
PMID- 41504274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260601
-LR - 20260601
+DCOM- 20260625
+LR - 20260625
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
@@ -5131,7 +5296,7 @@ PMID- 40191983
OWN - NLM
STAT- MEDLINE
DCOM- 20250617
-LR - 20250619
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -5273,9 +5438,10 @@ GR - Tier 1 Canada Research Chair in Rare Disease Preci/Canada Research Chairs/
GR - Children's Hospital of Eastern Ontario Foundation/
GR - CHEO Research Institute/
GR - Genome Canada/
-GR - CAPMC/CIHR/Canada
-GR - CAPMC/CIHR/Canada
+GR - CIHR/Canada
+GR - CIHR/Canada
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250407
PL - United States
TA - Ann Clin Transl Neurol
@@ -5721,7 +5887,7 @@ PMID- 40007153
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20250501
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -5896,6 +6062,7 @@ LA - eng
GR - MRF2023126/Medical Research Future Fund/
GR - MRF2025138/Medical Research Future Fund/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250225
PL - United States
TA - Ann Clin Transl Neurol
@@ -8261,7 +8428,7 @@ PMID- 39152783
OWN - NLM
STAT- MEDLINE
DCOM- 20241112
-LR - 20260127
+LR - 20260701
IS - 1468-1331 (Electronic)
IS - 1351-5101 (Print)
IS - 1351-5101 (Linking)
diff --git a/data/literature/FMR1_batch_01.txt b/data/literature/FMR1_batch_01.txt
index 5992521e..a2e9e825 100644
--- a/data/literature/FMR1_batch_01.txt
+++ b/data/literature/FMR1_batch_01.txt
@@ -1,4 +1,654 @@
+PMID- 42353815
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
+IS - 2073-4425 (Electronic)
+IS - 2073-4425 (Linking)
+VI - 17
+IP - 6
+DP - 2026 Jun 2
+TI - Establishment of a New-Generation National Reference Material System for Fragile
+ X Syndrome Using Targeted Long-Read Sequencing.
+LID - 10.3390/genes17060656 [doi]
+LID - 656
+AB - BACKGROUND: Fragile X syndrome (FXS) is the most common monogenic cause of
+ inherited intellectual disability and is primarily caused by CGG repeat expansion
+ in the FMR1 gene. Conventional diagnostic methods have limited precision for
+ sizing long repeat sequences and cannot resolve AGG interruptions, which are
+ critical for comprehensive risk assessment. Existing national FXS reference
+ materials are based on conventional methods and provide limited molecular
+ information. METHODS: We developed a targeted long-read sequencing assay for
+ comprehensive FMR1 characterization, termed tLRS-FMR1, and applied it to a panel
+ of 22 national FXS reference materials. RESULTS: The tLRS-FMR1 assay demonstrated
+ 100% concordance with standard methods while overcoming key limitations of
+ conventional approaches. It enabled precise quantification of CGG repeat numbers,
+ including full mutations (>200 repeats) that were only qualitatively reported by
+ traditional techniques and provided comprehensive mapping of AGG interruption
+ patterns. The assay showed high reproducibility, with 100% genotyping concordance
+ across intra- and inter-assay replicates and achieved a detection limit of 3
+ ng/muL. CONCLUSIONS: This study successfully developed tLRS-FMR1 and established a
+ new-generation national FXS reference material system with expanded molecular
+ information and improved precision, providing a foundation for advancing the
+ standardization and accuracy of FXS molecular diagnosis.
+FAU - Zhang, Mi
+AU - Zhang M
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+AD - State Key Laboratory of Drug Regulatory Science, Beijing 100050, China.
+FAU - Zhang, Wenxin
+AU - Zhang W
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+AD - State Key Laboratory of Drug Regulatory Science, Beijing 100050, China.
+FAU - Gao, Fei
+AU - Gao F
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+AD - State Key Laboratory of Drug Regulatory Science, Beijing 100050, China.
+FAU - Fang, Huiying
+AU - Fang H
+AUID- ORCID: 0009-0003-0189-4894
+AD - Berry Genomics Corporation, Beijing 102200, China.
+FAU - Zhang, Li
+AU - Zhang L
+AD - Berry Genomics Corporation, Beijing 102200, China.
+FAU - Qi, Yaning
+AU - Qi Y
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+FAU - Zhang, Wei
+AU - Zhang W
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+FAU - Xu, Peiwen
+AU - Xu P
+AD - State Key Laboratory of Reproductive Medicine and Offspring Health, Center for
+ Reproductive Medicine, Shandong University, Jinan 250000, China.
+AD - National Research Center for Assisted Reproductive Technology and Reproductive
+ Genetics, Shandong University, Jinan 250000, China.
+FAU - Li, Jie
+AU - Li J
+AD - State Key Laboratory of Reproductive Medicine and Offspring Health, Center for
+ Reproductive Medicine, Shandong University, Jinan 250000, China.
+AD - National Research Center for Assisted Reproductive Technology and Reproductive
+ Genetics, Shandong University, Jinan 250000, China.
+FAU - Qu, Shoufang
+AU - Qu S
+AD - National Institutes for Food and Drug Control, Beijing 100050, China.
+AD - State Key Laboratory of Drug Regulatory Science, Beijing 100050, China.
+LA - eng
+GR - 2024YFC3406305/National Key Research and Development Program of China/
+GR - 2022YFF1201903/National Key Research and Development Program of China/
+GR - 2022YFC2703200/National Key Research and Development Program of China/
+PT - Journal Article
+DEP - 20260602
+PL - Switzerland
+TA - Genes (Basel)
+JT - Genes
+JID - 101551097
+RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
+RN - 0 (FMR1 protein, human)
+SB - IM
+MH - *Fragile X Syndrome/genetics/diagnosis
+MH - Humans
+MH - *Fragile X Messenger Ribonucleoprotein 1/genetics
+MH - Trinucleotide Repeat Expansion/genetics
+MH - High-Throughput Nucleotide Sequencing/methods/standards
+MH - Sequence Analysis, DNA/methods/standards
+MH - Reference Standards
+MH - Reproducibility of Results
+PMC - PMC13299665
+OTO - NOTNLM
+OT - AGG interruptions
+OT - CGG repeats
+OT - fragile X syndrome
+OT - reference materials
+OT - targeted long-read sequencing
+COIS- H.F. and L.Z. are employees of Berry Genomics Corporation. Berry Genomics
+ Corporation provided technical support and sequencing-related services for this
+ study. The remaining authors declare no conflicts of interest.
+EDAT- 2026/06/26 06:40
+MHDA- 2026/06/27 04:10
+PMCR- 2026/06/02
+CRDT- 2026/06/26 01:08
+PHST- 2026/05/12 00:00 [received]
+PHST- 2026/05/28 00:00 [revised]
+PHST- 2026/05/29 00:00 [accepted]
+PHST- 2026/06/27 04:10 [medline]
+PHST- 2026/06/26 06:40 [pubmed]
+PHST- 2026/06/26 01:08 [entrez]
+PHST- 2026/06/02 00:00 [pmc-release]
+AID - genes17060656 [pii]
+AID - genes-17-00656 [pii]
+AID - 10.3390/genes17060656 [doi]
+PST - epublish
+SO - Genes (Basel). 2026 Jun 2;17(6):656. doi: 10.3390/genes17060656.
+
+PMID- 42330760
+OWN - NLM
+STAT- Publisher
+LR - 20260622
+IS - 1472-6491 (Electronic)
+IS - 1472-6483 (Linking)
+VI - 53
+IP - 3
+DP - 2026 May 20
+TI - Intermediate FMR1 cytosine‒guanine‒guanine repeats do not impair assisted
+ reproductive technology outcomes in a large real-world cohort.
+PG - 105783
+LID - S1472-6483(26)00324-X [pii]
+LID - 10.1016/j.rbmo.2026.105783 [doi]
+AB - RESEARCH QUESTION: Does the presence of moderately elevated FMR1
+ cytosine‒guanine‒guanine (CGG) repeat numbers (40-70 repeats), identified through
+ routine pre-pregnancy screening, adversely affect assisted reproductive
+ technology (ART) outcomes in a real-world population? DESIGN: Retrospective
+ cohort study including 760 first ART cycles conducted between 2010 and 2021 at a
+ university-affiliated centre. FMR1 CGG repeat testing was conducted independently
+ of infertility evaluation. Patients were categorized by repeat status in both
+ alleles using two thresholds: 40 or more repeats (primary analysis) and 34 or
+ more repeats (secondary analysis). Ovarian reserve markers, stimulation
+ characteristics, oocyte yield, embryologic outcomes, positive beta-HCG and live
+ birth rates were compared across groups. RESULTS: Among 760 patients, 669 (88%)
+ had no allele of 40 or more repeats, 85 (11%) had one allele of 40 or more
+ repeats and six (0.8%) had two alleles of 40 or more repats. The maximum observed
+ repeat length was 71. Baseline demographics and ovarian reserve markers were
+ similar between groups. No differences were observed in ovarian response, oocyte
+ yield, fertilization or embryo development by FMR1 repeat category. Pregnancy and
+ live birth rates were comparable between controls and patients with one expanded
+ allele. Although elevated pregnancy and live birth rates were observed in
+ patients with two expanded alleles, this subgroup was small, limiting
+ interpretation. Analyses using the 34 or more repeat threshold yielded similar
+ findings. CONCLUSIONS: Moderately elevated FMR1 CGG repeat numbers are not
+ associated with impaired ART outcomes. Standard ART protocols remain appropriate,
+ and FMR1 repeat length alone should not guide treatment modification in the
+ absence of clinical ovarian insufficiency.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier Ltd.. All rights reserved.
+FAU - Dayan-Schwartz, Adi
+AU - Dayan-Schwartz A
+AD - Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa,
+ Israel; Department of Obstetrics and Gynecology, Emek Medical Center, Afula,
+ Israel.
+FAU - Sela, Nitzan Dana
+AU - Sela ND
+AD - Department of Obstetrics and Gynecology, Emek Medical Center, Afula, Israel.
+FAU - Izhaki, Ido
+AU - Izhaki I
+AD - Department of Evolutionary and Environmental Biology, University of Haifa,
+ 3103301 Haifa, Israel.
+FAU - Khayat, Morad
+AU - Khayat M
+AD - Genetic Institute, Emek Medical Center, Afula, Israel.
+FAU - Baram, Shira
+AU - Baram S
+AD - Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa,
+ Israel; Department of Obstetrics and Gynecology, Emek Medical Center, Afula,
+ Israel.
+FAU - Beck-Fruchter, Ronit
+AU - Beck-Fruchter R
+AD - Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa,
+ Israel; Department of Obstetrics and Gynecology, Emek Medical Center, Afula,
+ Israel. Electronic address: beck_r@technion.ac.il.
+LA - eng
+PT - Journal Article
+DEP - 20260520
+PL - Netherlands
+TA - Reprod Biomed Online
+JT - Reproductive biomedicine online
+JID - 101122473
+SB - IM
+OTO - NOTNLM
+OT - ART
+OT - CGG repeat expansion
+OT - FMR1
+OT - ICSI
+OT - IVF
+OT - diminished ovarian reserve
+EDAT- 2026/06/22 21:07
+MHDA- 2026/06/22 21:07
+CRDT- 2026/06/22 18:06
+PHST- 2026/01/27 00:00 [received]
+PHST- 2026/03/28 00:00 [revised]
+PHST- 2026/05/14 00:00 [accepted]
+PHST- 2026/06/22 21:07 [medline]
+PHST- 2026/06/22 21:07 [pubmed]
+PHST- 2026/06/22 18:06 [entrez]
+AID - S1472-6483(26)00324-X [pii]
+AID - 10.1016/j.rbmo.2026.105783 [doi]
+PST - aheadofprint
+SO - Reprod Biomed Online. 2026 May 20;53(3):105783. doi: 10.1016/j.rbmo.2026.105783.
+
+PMID- 42325958
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260622
+LR - 20260622
+IS - 1662-5099 (Print)
+IS - 1662-5099 (Electronic)
+IS - 1662-5099 (Linking)
+VI - 19
+DP - 2026
+TI - Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and
+ gene expression analysis.
+PG - 1856101
+LID - 10.3389/fnmol.2026.1856101 [doi]
+LID - 1856101
+AB - BACKGROUND AND OBJECTIVES: Fragile X-associated tremor/ataxia syndrome (FXTAS) is
+ a late-onset neurodegenerative disorder that affects carriers of the FMR1
+ premutation (55-200 CGG repeats). It is characterized by motor and cognitive
+ impairments. However, the mechanisms underlying individual susceptibility to
+ FXTAS among carriers remain poorly understood. Emerging evidence suggests that
+ neuroinflammation and glymphatic dysfunction may interact and play key roles in
+ the pathological cascade leading to neurodegeneration. This study aimed to
+ investigate potential glymphatic and/or inflammatory dysfunction in FMR1
+ premutation carriers with FXTAS using the diffusion tensor imaging analysis along
+ the perivascular space (DTI-ALPS) index, as well as gene expression and
+ functional enrichment analyses in individuals with FXTAS versus controls.
+ METHODS: We analyzed the DTI-ALPS index in 14 participants with FXTAS and 25 age-
+ and sex-matched controls, and assessed the expression and pathway dysregulation
+ of genes related to neuroinflammation and glymphatic function using Reactome
+ analysis in postmortem brain tissue from 3 individuals with FXTAS and 12 controls
+ and skin fibroblasts from 6 individuals with FXTAS and 3 controls. RESULTS: The
+ DTI-ALPS index was significantly lower in individuals with FXTAS compared to
+ controls in the right but not left hemisphere (p = 0.0051) and globally in both
+ hemispheres (p = 0.0473). There was no correlation between lower DTI-ALPS index
+ and increasing CGG repeat length but a trend was observed in males. Reactome
+ analysis revealed downregulation of aquaporin-mediated transport in brain tissue
+ and fibroblasts, upregulation of multiple immune-related and inflammatory
+ pathways, predominantly in brain tissue, and increased circadian-related pathway
+ activity in fibroblasts. DISCUSSION: Our findings point at glymphatic system
+ dysfunction and neuroinflammation in FXTAS pathophysiology, as evidenced by in
+ vivo DTI-ALPS metrics and gene pathway dysregulation and expression in
+ fibroblasts and in postmortem FXTAS brains.
+CI - Copyright (c) 2026 Elias-Mas, Moreno, Marti, Rubio-Roy, Aguado-Gracia,
+ Munoz-Moreno, Hinojosa, Herrero, Alvarez-Mora, Hagerman, Wang, Zaro, Ortiz,
+ Krupinski and Rodriguez-Revenga.
+FAU - Elias-Mas, Andrea
+AU - Elias-Mas A
+AD - Radiology Department, Hospital Universitari Mutua Terrassa, (HUMT), Terrassa,
+ Spain.
+AD - Institute for Research and Innovation Parc Tauli (I3PT), Sabadell, Spain.
+AD - Genetics Doctorate Program, Universitat de Barcelona (UB), Barcelona, Spain.
+FAU - Moreno, Esther Granell
+AU - Moreno EG
+AD - Radiology Department, Hospital de Santa Creu i Sant Pau, Barcelona, Spain.
+FAU - Marti, Celia Painous
+AU - Marti CP
+AD - Unitat de Parkinson i altres Trastorns del Moviment, Servei de Neurologia,
+ Hospital Clinic de Barcelona, FRCB-IDIBAPS, Institut de Neurosciencies, CIBERNED,
+ ISCIII, ERN-RND, UBNeuro, Barcelona, Spain.
+FAU - Rubio-Roy, Marta
+AU - Rubio-Roy M
+AD - Institute for Research and Innovation Parc Tauli (I3PT), Sabadell, Spain.
+AD - Department of Neurology, Parc Tauli Hospital Universitari, Sabadell, Spain.
+FAU - Aguado-Gracia, Jorge
+AU - Aguado-Gracia J
+AD - Department of Child and Adolescent Psychiatry and Psychology, Hospital Clinic of
+ Barcelona, Barcelona, Spain.
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+FAU - Munoz-Moreno, Emma
+AU - Munoz-Moreno E
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+FAU - Hinojosa, Alejandro
+AU - Hinojosa A
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+FAU - Herrero, Inigo
+AU - Herrero I
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+FAU - Alvarez-Mora, Maria Isabel
+AU - Alvarez-Mora MI
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+AD - Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona,
+ Barcelona, Spain.
+AD - CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona,
+ Spain.
+FAU - Hagerman, Randi
+AU - Hagerman R
+AD - MIND Institute, University of California Davis, Sacramento, CA, United States.
+AD - Department of Pediatrics, University of California Davis, School of Medicine,
+ Sacramento, CA, United States.
+FAU - Wang, Jun Yi
+AU - Wang JY
+AD - Department of Psychiatry and Behavioral Sciences, University of California Davis,
+ School of Medicine, Sacramento, CA, United States.
+FAU - Zaro, Idoia
+AU - Zaro I
+AD - Unitat de Parkinson i altres Trastorns del Moviment, Servei de Neurologia,
+ Hospital Clinic de Barcelona, FRCB-IDIBAPS, Institut de Neurosciencies, CIBERNED,
+ ISCIII, ERN-RND, UBNeuro, Barcelona, Spain.
+FAU - Ortiz, Sofia Gonzalez
+AU - Ortiz SG
+AD - Radiology Department, Hospital Clinic de Barcelona, Barcelona, Spain.
+FAU - Krupinski, Jerzy
+AU - Krupinski J
+AD - Department of Neurology, F.Ass. MutuaTerrassa, Barcelona, Spain.
+AD - Department of Life Sciences John Dalton Building, Faculty of Science and
+ Engineering, Manchester Metropolitan University, Manchester, United Kingdom.
+FAU - Rodriguez-Revenga, Laia
+AU - Rodriguez-Revenga L
+AD - Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona,
+ Spain.
+AD - Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona,
+ Barcelona, Spain.
+AD - CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona,
+ Spain.
+LA - eng
+PT - Journal Article
+DEP - 20260528
+PL - Switzerland
+TA - Front Mol Neurosci
+JT - Frontiers in molecular neuroscience
+JID - 101477914
+PMC - PMC13280973
+OTO - NOTNLM
+OT - DTI-ALPS index
+OT - FMR1 premutation
+OT - FXTAS
+OT - gene dysregulation
+OT - gene expression
+OT - glymphatic
+OT - neuroinflammation
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/06/22 13:43
+MHDA- 2026/06/22 13:44
+PMCR- 2026/05/28
+CRDT- 2026/06/22 07:01
+PHST- 2026/04/14 00:00 [received]
+PHST- 2026/05/09 00:00 [revised]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/06/22 13:44 [medline]
+PHST- 2026/06/22 13:43 [pubmed]
+PHST- 2026/06/22 07:01 [entrez]
+PHST- 2026/05/28 00:00 [pmc-release]
+AID - 10.3389/fnmol.2026.1856101 [doi]
+PST - epublish
+SO - Front Mol Neurosci. 2026 May 28;19:1856101. doi: 10.3389/fnmol.2026.1856101.
+ eCollection 2026.
+
+PMID- 42301916
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260616
+LR - 20260616
+IS - 1362-4962 (Electronic)
+IS - 0305-1048 (Print)
+IS - 0305-1048 (Linking)
+VI - 54
+IP - 11
+DP - 2026 Jun 8
+TI - The role of FMR1 mRNA structure on the efficiency of non-canonical translation of
+ toxic polyglycine protein.
+LID - 10.1093/nar/gkag569 [doi]
+LID - gkag569
+AB - Repeat-associated non-AUG (RAN) translation of mutant FMR1 messenger RNA (mRNA)
+ containing CGG repeat expansions results in the production of a toxic polyglycine
+ protein (FMRpolyG), which contributes to fragile X premutation-associated
+ conditions (FXPAC), including fragile X-associated tremor/ataxia syndrome
+ (FXTAS). The 5' untranslated region of FMR1 mRNA folds into a thermodynamically
+ stable secondary structure at the region of excessively expanded CGG repeats and
+ constitutes a template for RAN translation initiated from near-cognate start
+ codons located upstream of the CGGs. Cis-regulatory elements, including sequence
+ context and stable secondary structures within mRNA, can affect translation
+ initiation and elongation. Here, we show that different nucleotide sequence
+ contexts close to the near-cognate start codon affect FMRpolyG synthesis.
+ Moreover, the distance between the near-cognate start codon and downstream stable
+ RNA structure considerably affects the efficiency of RAN translation initiation,
+ which is positively correlated with the number of CGG repeats. In contrast,
+ translation elongation is impaired as CGG repeats expand. We show that native
+ FMRpolyG containing a short polyglycine tract is synthesized efficiently but
+ rapidly degraded by the proteasome. Our results provide insight into the
+ structural dependencies that regulate the translation of CGGs and can be used in
+ other repeat expansion disorders. We also show that the RNA structure is a
+ potential therapeutic target in FXPAC.
+CI - © The Author(s) 2026. Published by Oxford University Press.
+FAU - Niewiadomska, Daria
+AU - Niewiadomska D
+AUID- ORCID: 0000-0001-7100-789X
+AD - Department of Gene Expression, Institute of Molecular Biology and Biotechnology,
+ Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, 61-614 Poznan, Poland.
+AD - Center for Development of Gene Therapies, Center for Advanced Technologies, Adam
+ Mickiewicz University, Uniwersytetu Poznanskiego 10, 61-614 Poznan, Poland.
+FAU - Piasecka, Agnieszka
+AU - Piasecka A
+AD - Department of Gene Expression, Institute of Molecular Biology and Biotechnology,
+ Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, 61-614 Poznan, Poland.
+FAU - Baud, Anna
+AU - Baud A
+AD - Department of Gene Expression, Institute of Molecular Biology and Biotechnology,
+ Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, 61-614 Poznan, Poland.
+AD - Center for Development of Gene Therapies, Center for Advanced Technologies, Adam
+ Mickiewicz University, Uniwersytetu Poznanskiego 10, 61-614 Poznan, Poland.
+FAU - Broniarek, Izabela
+AU - Broniarek I
+AUID- ORCID: 0000-0001-5318-8228
+AD - Department of Gene Expression, Institute of Molecular Biology and Biotechnology,
+ Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, 61-614 Poznan, Poland.
+FAU - Sobczak, Krzysztof
+AU - Sobczak K
+AUID- ORCID: 0000-0001-8352-9812
+AD - Department of Gene Expression, Institute of Molecular Biology and Biotechnology,
+ Adam Mickiewicz University, Uniwersytetu Poznanskiego 6, 61-614 Poznan, Poland.
+AD - Center for Development of Gene Therapies, Center for Advanced Technologies, Adam
+ Mickiewicz University, Uniwersytetu Poznanskiego 10, 61-614 Poznan, Poland.
+LA - eng
+GR - 2020/38/A/NZ3/00498/Polish National Science Centre/
+GR - Foundation for Polish Science/
+GR - POIR.04.04.00-00-5C0C/17-00/European Regional Development Fund/
+GR - FENG.02.01-IP.05-M038/25/European Funds for Smart Economy/
+GR - Adam Mickiewicz University/
+PT - Journal Article
+PL - England
+TA - Nucleic Acids Res
+JT - Nucleic acids research
+JID - 0411011
+RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
+RN - 25718-94-9 (polyglycine)
+RN - 0 (RNA, Messenger)
+RN - 0 (Peptides)
+RN - 0 (FMR1 protein, human)
+RN - 0 (Codon, Initiator)
+RN - 0 (5' Untranslated Regions)
+RN - Fragile X Tremor Ataxia Syndrome
+SB - IM
+MH - *Fragile X Messenger Ribonucleoprotein 1/genetics/metabolism/chemistry
+MH - *RNA, Messenger/chemistry/genetics/metabolism
+MH - *Peptides/genetics/metabolism
+MH - Trinucleotide Repeat Expansion/genetics
+MH - *Protein Biosynthesis
+MH - Humans
+MH - Nucleic Acid Conformation
+MH - Codon, Initiator
+MH - Fragile X Syndrome/genetics
+MH - 5' Untranslated Regions
+MH - Tremor/genetics
+MH - Ataxia/genetics
+PMC - PMC13270972
+COIS- D.N., A.B., I.B., and K.S. are inventors on a patent application no. P.455445
+ that describes parts of this publication.
+EDAT- 2026/06/16 18:34
+MHDA- 2026/06/16 18:35
+PMCR- 2026/06/16
+CRDT- 2026/06/16 13:13
+PHST- 2025/01/15 00:00 [received]
+PHST- 2026/05/04 00:00 [accepted]
+PHST- 2026/06/16 18:35 [medline]
+PHST- 2026/06/16 18:34 [pubmed]
+PHST- 2026/06/16 13:13 [entrez]
+PHST- 2026/06/16 00:00 [pmc-release]
+AID - 8708757 [pii]
+AID - gkag569 [pii]
+AID - 10.1093/nar/gkag569 [doi]
+PST - ppublish
+SO - Nucleic Acids Res. 2026 Jun 8;54(11):gkag569. doi: 10.1093/nar/gkag569.
+
+PMID- 42293335
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260615
+LR - 20260615
+IS - 1098-1004 (Electronic)
+IS - 1059-7794 (Print)
+IS - 1059-7794 (Linking)
+VI - 2026
+DP - 2026
+TI - Structural Variant and Repeat Expansion Findings Identified by Optical Genome
+ Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental
+ Disorders.
+PG - 3130383
+LID - 10.1155/humu/3130383 [doi]
+LID - 3130383
+AB - Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by
+ persistent deficits in social communication and interaction, along with
+ restricted, repetitive patterns of behavior, interests, or activities.
+ Single-nucleotide variants (SNVs) and structural variants (SVs), including
+ copy-number variants (CNVs), have been reported as important contributors to the
+ genetic basis of ASD. In this study, we evaluated the diagnostic contribution of
+ optical genome mapping (OGM) as a complementary cytogenomic approach in a
+ selected ASD cohort enriched for complex ASD with developmental
+ delay/intellectual disability (DD/ID) and/or additional neurodevelopmental or
+ syndromic features. We retrospectively evaluated 34 individuals with ASD who
+ underwent OGM analysis, most of whom had concomitant DD/ID and/or additional
+ neurological, congenital, or syndromic features. Confirmed pathogenic (P) or
+ likely pathogenic (LP) findings were identified in 7/34 individuals (20.6%), and
+ one additional unconfirmed OGM-only duplication was provisionally interpreted as
+ pathogenic. Overall, confirmed or provisional P/LP findings were observed in 8/34
+ individuals (23.5%), all of whom had complex ASD with DD/ID and/or additional
+ neurodevelopmental or syndromic features. OGM-detected findings were confirmed by
+ orthogonal methods whenever clinically and technically feasible, and segregation
+ analyses were performed when samples were available. These results suggest that
+ OGM may add value to integrated genetic testing workflows for selected
+ individuals with complex ASD, particularly when SVs, complex chromosomal
+ rearrangements, or FMR1 full-mutation repeat expansions are clinically suspected
+ or insufficiently resolved by conventional approaches.
+CI - Copyright (c) 2026 Mehmet Burak Mutlu et al. Human Mutation published by John Wiley
+ & Sons Ltd.
+FAU - Mutlu, Mehmet Burak
+AU - Mutlu MB
+AUID- ORCID: 0000-0001-7745-8165
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Ogutlu, Ozge Beyza Gundogdu
+AU - Ogutlu OBG
+AUID- ORCID: 0000-0002-8117-6408
+AD - Department of Medical Genetics, Erzurum Regional Training and Research Hospital,
+ Erzurum, Turkiye, erzurumbeah.gov.tr.
+FAU - Oz, Ozlem
+AU - Oz O
+AUID- ORCID: 0000-0002-5533-6025
+AD - Department of Medical Genetics, Harran University Faculty of Medicine, Sanliurfa,
+ Turkiye, harran.edu.tr.
+FAU - Duymus, Fahrettin
+AU - Duymus F
+AUID- ORCID: 0000-0002-8130-9792
+AD - Department of Medical Genetics, Usak University, Faculty of Medicine, Usak,
+ Turkiye, usak.edu.tr.
+FAU - Seyhan, Serhat
+AU - Seyhan S
+AUID- ORCID: 0000-0002-7785-2995
+AD - Medroyal Genetic Diseases Assessment Center, Istanbul, Turkiye.
+FAU - Tokac, Ayse Gul Bayrak
+AU - Tokac AGB
+AUID- ORCID: 0000-0003-2228-0632
+AD - Department of Internal Medicine, Division of Medical Genetics, Istanbul
+ University, Faculty of Medicine, Istanbul, Turkiye, istanbul.edu.tr.
+FAU - Tezcan, Esad
+AU - Tezcan E
+AUID- ORCID: 0000-0001-8362-1934
+AD - Department of Child and Adolescent Psychiatry, Selcuk University, Faculty of
+ Medicine, Konya, Turkiye, selcuk.edu.tr.
+FAU - Ogutlu, Hakan
+AU - Ogutlu H
+AUID- ORCID: 0000-0002-1325-446X
+AD - Department of Child and Adolescent Psychiatry, University College Dublin, Dublin,
+ Ireland, ucd.ie.
+FAU - Demiryilmaz, Fatma
+AU - Demiryilmaz F
+AUID- ORCID: 0009-0007-5981-434X
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Silahtarlioglu, Nurcan
+AU - Silahtarlioglu N
+AUID- ORCID: 0009-0001-7725-4872
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Bilgil, Kader
+AU - Bilgil K
+AUID- ORCID: 0009-0002-4940-3962
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Elma, Sumeyye
+AU - Elma S
+AUID- ORCID: 0009-0000-4739-0550
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Erdogan, Murat
+AU - Erdogan M
+AUID- ORCID: 0000-0001-8768-4457
+AD - Department of Medical Genetics, University of Health Science, Kayseri Faculty of
+ Medicine, Kayseri, Turkiye, sbu.edu.tr.
+FAU - Gumus, Hakan
+AU - Gumus H
+AUID- ORCID: 0000-0001-5896-074X
+AD - Department of Pediatrics, Division of Pediatric Neurology, Erciyes University,
+ Faculty of Medicine, Kayseri, Turkiye, erciyes.edu.tr.
+FAU - Kumandas, Sefer
+AU - Kumandas S
+AUID- ORCID: 0000-0003-0117-1218
+AD - Department of Pediatrics, Division of Pediatric Neurology, Erciyes University,
+ Faculty of Medicine, Kayseri, Turkiye, erciyes.edu.tr.
+FAU - Kilicaslan, Fethiye
+AU - Kilicaslan F
+AUID- ORCID: 0000-0002-8131-8859
+AD - Department of Child and Adolescent Psychiatry, Harran University, Faculty of
+ Medicine, Sanliurfa, Turkiye, harran.edu.tr.
+LA - eng
+PT - Journal Article
+DEP - 20260611
+PL - United States
+TA - Hum Mutat
+JT - Human mutation
+JID - 9215429
+SB - IM
+MH - Humans
+MH - *Autism Spectrum Disorder/genetics/diagnosis
+MH - DNA Copy Number Variations
+MH - Female
+MH - *Neurodevelopmental Disorders/genetics
+MH - Child
+MH - Male
+MH - *Chromosome Mapping/methods
+MH - Child, Preschool
+MH - Polymorphism, Single Nucleotide
+MH - *Genomic Structural Variation
+MH - Adolescent
+MH - Genetic Predisposition to Disease
+PMC - PMC13255017
+OTO - NOTNLM
+OT - autism spectrum disorder
+OT - copy-number variants
+OT - cytogenomics
+OT - neurodevelopmental disorders
+OT - optical genome mapping
+OT - repeat expansion
+OT - structural variants
+COIS- Mehmet Burak Mutlu, Fatma Demiryilmaz, Nurcan Silahtarlioglu, Kader Bilgil, and
+ Sumeyye Elma are employed by a genetic diseases evaluation company that
+ distributes OGM technology in Turkiye. The other authors declare no conflicts of
+ interest.
+EDAT- 2026/06/15 12:53
+MHDA- 2026/06/15 12:54
+PMCR- 2026/06/11
+CRDT- 2026/06/15 07:37
+PHST- 2025/06/04 00:00 [received]
+PHST- 2026/05/19 00:00 [revised]
+PHST- 2026/05/26 00:00 [accepted]
+PHST- 2026/06/15 12:54 [medline]
+PHST- 2026/06/15 12:53 [pubmed]
+PHST- 2026/06/15 07:37 [entrez]
+PHST- 2026/06/11 00:00 [pmc-release]
+AID - HUMU3130383 [pii]
+AID - 10.1155/humu/3130383 [doi]
+PST - epublish
+SO - Hum Mutat. 2026 Jun 11;2026:3130383. doi: 10.1155/humu/3130383. eCollection 2026.
+
PMID- 42041789
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -91,14 +741,18 @@ SO - Brain Sci. 2026 Mar 30;16(4):380. doi: 10.3390/brainsci16040380.
PMID- 42001465
OWN - NLM
-STAT- Publisher
-LR - 20260419
+STAT- MEDLINE
+DCOM- 20260603
+LR - 20260610
IS - 1460-2350 (Electronic)
+IS - 0268-1161 (Print)
IS - 0268-1161 (Linking)
-DP - 2026 Apr 19
+VI - 41
+IP - 6
+DP - 2026 Jun 1
TI - Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian
insufficiency in over 92 000 women.
-LID - deag061 [pii]
+PG - 998-1007
LID - 10.1093/humrep/deag061 [doi]
AB - STUDY QUESTION: Does FMR1 repeat length confer clinically meaningful predictive
value for premature ovarian insufficiency (POI)? SUMMARY ANSWER: FMR1 repeat
@@ -183,37 +837,57 @@ GR - UK Biobank resource/
GR - MC_UU_12015/2/MRC_/Medical Research Council/United Kingdom
GR - MC_UU_00006/2/MRC_/Medical Research Council/United Kingdom
PT - Journal Article
-DEP - 20260419
PL - England
TA - Hum Reprod
JT - Human reproduction (Oxford, England)
JID - 8701199
+RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
+RN - 0 (FMR1 protein, human)
SB - IM
+MH - Humans
+MH - Female
+MH - *Fragile X Messenger Ribonucleoprotein 1/genetics
+MH - *Primary Ovarian Insufficiency/genetics/epidemiology
+MH - Cross-Sectional Studies
+MH - Middle Aged
+MH - Adult
+MH - United Kingdom
+MH - *Trinucleotide Repeats
+MH - Genome-Wide Association Study
+MH - Genetic Risk Score
+MH - Trinucleotide Repeat Expansion
+MH - UK Biobank
+MH - Genetic Predisposition to Disease
+PMC - PMC13231448
OTO - NOTNLM
OT - FMR1
OT - fragile X-associated primary ovarian insufficiency
OT - menopause
OT - premature ovarian insufficiency
OT - whole genome sequencing
+COIS- J.R.B.P. and A.M. have engaged in paid consultancy for Ovartix Ltd.
EDAT- 2026/04/20 13:10
-MHDA- 2026/04/20 13:10
+MHDA- 2026/06/04 00:41
+PMCR- 2026/04/19
CRDT- 2026/04/19 14:23
PHST- 2025/09/17 00:00 [received]
PHST- 2026/02/27 00:00 [revised]
PHST- 2026/03/11 00:00 [accepted]
-PHST- 2026/04/20 13:10 [medline]
+PHST- 2026/06/04 00:41 [medline]
PHST- 2026/04/20 13:10 [pubmed]
PHST- 2026/04/19 14:23 [entrez]
+PHST- 2026/04/19 00:00 [pmc-release]
AID - 8658897 [pii]
+AID - deag061 [pii]
AID - 10.1093/humrep/deag061 [doi]
-PST - aheadofprint
-SO - Hum Reprod. 2026 Apr 19:deag061. doi: 10.1093/humrep/deag061.
+PST - ppublish
+SO - Hum Reprod. 2026 Jun 1;41(6):998-1007. doi: 10.1093/humrep/deag061.
PMID- 41952192
OWN - NLM
STAT- MEDLINE
-DCOM- 20260518
-LR - 20260520
+DCOM- 20260621
+LR - 20260627
IS - 1741-7015 (Electronic)
IS - 1741-7015 (Linking)
VI - 24
@@ -324,14 +998,15 @@ SB - IM
MH - Humans
MH - *Muscle Hypotonia/genetics/diagnosis
MH - *Muscle Weakness/genetics/diagnosis
-MH - Retrospective Studies
MH - Female
-MH - Male
-MH - Whole Genome Sequencing/methods
+MH - Retrospective Studies
MH - *Epigenomics/methods
-MH - Genomics/methods
-MH - Infant
+MH - Male
MH - Child, Preschool
+MH - *Whole Genome Sequencing/methods
+MH - Infant
+MH - *Genomics/methods
+MH - Child
PMC - PMC13181904
OTO - NOTNLM
OT - CNVs
@@ -368,8 +1043,8 @@ SO - BMC Med. 2026 Apr 8;24(1):307. doi: 10.1186/s12916-026-04850-8.
PMID- 41929501
OWN - NLM
STAT- MEDLINE
-DCOM- 20260403
-LR - 20260403
+DCOM- 20260621
+LR - 20260621
IS - 1664-3224 (Electronic)
IS - 1664-3224 (Linking)
VI - 17
@@ -445,11 +1120,12 @@ SB - IM
MH - Humans
MH - Female
MH - Middle Aged
-MH - *Vomiting/drug therapy/etiology/diagnosis
-MH - *Nausea/drug therapy/etiology/diagnosis
MH - *Adrenal Cortex Hormones/therapeutic use
-MH - Intranuclear Inclusion Bodies/pathology
-MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications/genetics
+MH - *Nausea/drug therapy/etiology/diagnosis
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications
+MH - *Vomiting/drug therapy/etiology/diagnosis
+MH - Treatment Outcome
PMC - PMC13039027
OTO - NOTNLM
OT - NIID
@@ -598,8 +1274,8 @@ SO - Ann Clin Transl Neurol. 2026 Mar 31. doi: 10.1002/acn3.70375.
PMID- 41806827
OWN - NLM
STAT- MEDLINE
-DCOM- 20260513
-LR - 20260516
+DCOM- 20260619
+LR - 20260619
IS - 2666-979X (Electronic)
IS - 2666-979X (Linking)
VI - 6
@@ -698,16 +1374,16 @@ SB - IM
UOF - medRxiv. 2025 Jul 23:2025.07.20.25331880. doi: 10.1101/2025.07.20.25331880. PMID:
40778130
MH - Humans
+MH - Fragile X Messenger Ribonucleoprotein 1/genetics
MH - *Whole Genome Sequencing/methods
-MH - DNA Methylation/genetics
+MH - *Autistic Disorder/genetics
+MH - *Tandem Repeat Sequences/genetics
MH - *Autism Spectrum Disorder/genetics
-MH - Male
+MH - DNA Methylation/genetics
MH - Female
-MH - Fragile X Messenger Ribonucleoprotein 1/genetics
-MH - *Tandem Repeat Sequences/genetics
+MH - Male
MH - *Genomic Structural Variation/genetics
-MH - *Autistic Disorder/genetics
-MH - Genome, Human
+MH - Genetic Variation
MH - Promoter Regions, Genetic
PMC - PMC13174233
OTO - NOTNLM
@@ -743,8 +1419,8 @@ SO - Cell Genom. 2026 May 13;6(5):101186. doi: 10.1016/j.xgen.2026.101186. Epub
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -817,13 +1493,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
@@ -989,8 +1675,8 @@ SO - Front Mol Neurosci. 2026 Feb 16;19:1720370. doi: 10.3389/fnmol.2026.172037
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -1164,18 +1850,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -1529,8 +2213,8 @@ SO - Front Neurosci. 2026 Jan 21;19:1656418. doi: 10.3389/fnins.2025.1656418.
PMID- 41557506
OWN - NLM
STAT- MEDLINE
-DCOM- 20260130
-LR - 20260317
+DCOM- 20260630
+LR - 20260630
IS - 2211-1247 (Electronic)
VI - 45
IP - 1
@@ -1630,7 +2314,6 @@ JID - 101573691
RN - EC 3.5.1.2 (Glutaminase)
RN - 3KX376GY7L (Glutamic Acid)
RN - 0RH81L854J (Glutamine)
-RN - 139135-51-6 (Fragile X Messenger Ribonucleoprotein 1)
SB - IM
MH - Humans
MH - *Glutaminase/metabolism
@@ -1638,11 +2321,10 @@ MH - *Fragile X Syndrome/metabolism/pathology/enzymology/genetics
MH - *Neurons/metabolism/pathology
MH - *Cell Differentiation
MH - Induced Pluripotent Stem Cells/metabolism
+MH - Metabolic Reprogramming
MH - Glutamic Acid/metabolism
MH - Glutamine/metabolism
MH - Mitochondria/metabolism
-MH - Fragile X Messenger Ribonucleoprotein 1/metabolism/genetics
-MH - Metabolic Reprogramming
PMC - PMC12990186
MID - NIHMS2142921
OTO - NOTNLM
@@ -1678,8 +2360,8 @@ SO - Cell Rep. 2026 Jan 27;45(1):116857. doi: 10.1016/j.celrep.2025.116857. Epu
PMID- 41555826
OWN - NLM
STAT- MEDLINE
-DCOM- 20260310
-LR - 20260311
+DCOM- 20260630
+LR - 20260630
IS - 1875-8908 (Electronic)
IS - 1387-2877 (Print)
IS - 1387-2877 (Linking)
@@ -1757,15 +2439,12 @@ MH - Humans
MH - Female
MH - *Fragile X Messenger Ribonucleoprotein 1/genetics
MH - Middle Aged
-MH - Adult
MH - *Cognitive Dysfunction/genetics/psychology
-MH - *Memory, Episodic
MH - *Educational Status
+MH - Memory, Episodic
MH - Neuropsychological Tests
MH - Trinucleotide Repeat Expansion/genetics
MH - Gene-Environment Interaction
-MH - Universities
-MH - *Fragile X Syndrome/genetics/psychology
PMC - PMC12960750
MID - NIHMS2145922
OTO - NOTNLM
@@ -1896,9 +2575,9 @@ SO - J Korean Acad Child Adolesc Psychiatry. 2026 Jan 1;37(1):63-69. doi:
PMID- 41514368
OWN - NLM
-STAT- In-Process
-DCOM- 20260128
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260625
+LR - 20260625
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -2043,19 +2722,19 @@ JID - 101475844
SB - IM
MH - Humans
MH - Child
+MH - *Nervous System Diseases/genetics/diagnosis
MH - Adolescent
MH - Female
-MH - Male
-MH - *Nervous System Diseases/genetics/diagnosis
MH - Child, Preschool
+MH - Male
+MH - *Genome, Human
MH - *Whole Genome Sequencing/methods
-MH - *Genetic Testing/methods
-MH - Young Adult
-MH - Prospective Studies
+MH - DNA Methylation
+MH - Genetic Testing/methods
+MH - Sequence Analysis, DNA
MH - Infant
-MH - *Genome, Human
-MH - Sequence Analysis, DNA/methods
-MH - High-Throughput Nucleotide Sequencing
+MH - Polymorphism, Single Nucleotide
+MH - Shotgun Sequencing
PMC - PMC12838436
OTO - NOTNLM
OT - Chromosomal rearrangements
@@ -2095,8 +2774,8 @@ SO - Genome Med. 2026 Jan 9;18(1):12. doi: 10.1186/s13073-025-01596-5.
PMID- 41507195
OWN - NLM
STAT- MEDLINE
-DCOM- 20260601
-LR - 20260601
+DCOM- 20260625
+LR - 20260625
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -6911,7 +7590,7 @@ PMID- 40296143
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20260127
+LR - 20260621
IS - 1756-8935 (Electronic)
IS - 1756-8935 (Linking)
VI - 18
@@ -8223,6 +8902,7 @@ STAT- MEDLINE
DCOM- 20250507
LR - 20250507
IS - 1520-6882 (Electronic)
+IS - 0003-2700 (Print)
IS - 0003-2700 (Linking)
VI - 97
IP - 7
@@ -8291,12 +8971,16 @@ MH - *RNA/genetics/analysis/chemistry
MH - *Microsatellite Repeats/genetics
MH - Fluorescence
MH - *GC Rich Sequence
+PMC - PMC13261719
+MID - NIHMS2179537
EDAT- 2025/02/13 12:25
MHDA- 2025/02/25 06:21
+PMCR- 2026/06/12
CRDT- 2025/02/13 08:42
PHST- 2025/02/25 06:21 [medline]
PHST- 2025/02/13 12:25 [pubmed]
PHST- 2025/02/13 08:42 [entrez]
+PHST- 2026/06/12 00:00 [pmc-release]
AID - 10.1021/acs.analchem.4c06236 [doi]
PST - ppublish
SO - Anal Chem. 2025 Feb 25;97(7):4111-4119. doi: 10.1021/acs.analchem.4c06236. Epub
@@ -10667,7 +11351,7 @@ PMID- 38412259
OWN - NLM
STAT- MEDLINE
DCOM- 20240609
-LR - 20260501
+LR - 20260606
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -10767,6 +11451,9 @@ GR - Cellular and Molecular Biology Graduate Program, University of Michigan/
GR - R35 NS097273/NS/NINDS NIH HHS/United States
GR - P50HD104463/GF/NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -10819,7 +11506,7 @@ PMID- 38307002
OWN - NLM
STAT- MEDLINE
DCOM- 20240205
-LR - 20260127
+LR - 20260625
IS - 1097-4164 (Electronic)
IS - 1097-2765 (Linking)
VI - 84
@@ -12836,7 +13523,7 @@ SO - Exp Brain Res. 2023 Aug;241(8):1975-1987. doi: 10.1007/s00221-023-06653-2.
PMID- 37333274
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20250909
+LR - 20260606
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2023 Jun 7
@@ -18614,13 +19301,10 @@ COIS- Declaration of competing interest The authors declare that they have no kn
to influence the work reported in this paper.
EDAT- 2021/07/24 06:00
MHDA- 2021/07/24 06:01
-PMCR- 2020/09/10
CRDT- 2021/07/23 06:56
PHST- 2021/07/23 06:56 [entrez]
PHST- 2021/07/24 06:00 [pubmed]
PHST- 2021/07/24 06:01 [medline]
-PHST- 2020/09/10 00:00 [pmc-release]
-AID - S2666-027X(20)30011-6 [pii]
AID - 10.1016/j.crtox.2020.09.001 [doi]
PST - ppublish
SO - Curr Res Toxicol. 2020 Jun 10;1:85-103. doi: 10.1016/j.crtox.2020.09.001. Epub
@@ -25385,6 +26069,7 @@ AID - 10.15252/embr.201847498 [doi]
PST - ppublish
SO - EMBO Rep. 2019 Sep;20(9):e47498. doi: 10.15252/embr.201847498. Epub 2019 Jul 25.
+
PMID- 31336350
OWN - NLM
STAT- MEDLINE
@@ -26176,7 +26861,6 @@ PST - ppublish
SO - ACS Chem Neurosci. 2019 Aug 21;10(8):3778-3788. doi:
10.1021/acschemneuro.9b00282. Epub 2019 Jul 2.
-
PMID- 31159589
OWN - NLM
STAT- MEDLINE
@@ -45805,7 +46489,6 @@ STAT- PubMed-not-MEDLINE
DCOM- 20130704
LR - 20240513
IS - 2160-8288 (Print)
-IS - 2160-8288 (Electronic)
IS - 2160-8288 (Linking)
VI - 2
DP - 2012
@@ -45853,22 +46536,15 @@ OT - Parkinson
OT - neurodegeneration
OT - neurodevelopment
OT - primary ovarian insufficiency
-COIS- Competing Interests: Paul Hagerman is a non-compensated collaborator with
- Asuragen, Inc. and with Pacific Biosciences. With Dr. Flora Tassone, he holds a
- US patent for expanded-CGG screening. There are no other conflicts of interest to
- report.
EDAT- 2013/02/27 06:00
MHDA- 2013/02/27 06:01
-PMCR- 2012/05/18
CRDT- 2013/02/27 06:00
PHST- 2011/09/09 00:00 [received]
PHST- 2011/12/01 00:00 [accepted]
PHST- 2013/02/27 06:00 [entrez]
PHST- 2013/02/27 06:00 [pubmed]
PHST- 2013/02/27 06:01 [medline]
-PHST- 2012/05/18 00:00 [pmc-release]
AID - tre-02-63-375-2 [pii]
-AID - tre-63-375-2 [pii]
AID - 10.7916/D80C4TH0 [doi]
PST - ppublish
SO - Tremor Other Hyperkinet Mov (N Y). 2012;2:tre-02-63-375-2. doi: 10.7916/D80C4TH0.
@@ -47306,6 +47982,7 @@ AID - 10.1038/gim.2012.34 [doi]
PST - ppublish
SO - Genet Med. 2012 Aug;14(8):729-36. doi: 10.1038/gim.2012.34. Epub 2012 Apr 12.
+
PMID- 22489017
OWN - NLM
STAT- MEDLINE
@@ -47824,7 +48501,6 @@ PST - ppublish
SO - Neurosci Lett. 2012 Apr 11;514(1):16-21. doi: 10.1016/j.neulet.2012.02.036. Epub
2012 Feb 22.
-
PMID- 22311273
OWN - NLM
STAT- MEDLINE
@@ -65413,6 +66089,7 @@ PST - ppublish
SO - Am J Med Genet. 1998 May 8;81(3):222-4. doi:
10.1002/(sici)1096-8628(19980508)81:3<222::aid-ajmg3>3.0.co;2-y.
+
PMID- 9529778
OWN - NLM
STAT- MEDLINE
@@ -65852,7 +66529,6 @@ PST - ppublish
SO - Am J Med Genet. 1997 Dec 31;73(4):447-55. doi:
10.1002/(sici)1096-8628(19971231)73:4<447::aid-ajmg14>3.0.co;2-r.
-
PMID- 9437788
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/FXN_batch_01.txt b/data/literature/FXN_batch_01.txt
index 7b5dbb8f..59c27534 100644
--- a/data/literature/FXN_batch_01.txt
+++ b/data/literature/FXN_batch_01.txt
@@ -1,16 +1,484 @@
-PMID- 42134333
+PMID- 42383006
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260701
+LR - 20260701
+IS - 2589-0042 (Electronic)
+IS - 2589-0042 (Linking)
+VI - 29
+IP - 7
+DP - 2026 Jul 17
+TI - Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: In
+ vitro and in vivo insights into therapeutic targeting.
+PG - 116479
+LID - 10.1016/j.isci.2026.116479 [doi]
+LID - 116479
+AB - Friedreich's ataxia (FRDA) is an inherited neurodegenerative disorder caused by a
+ GAA repeat expansion within the FXN gene, leading to reduced frataxin levels.
+ This deficiency results in mitochondrial dysregulation, oxidative stress, and
+ progressive cell death. Currently, only one approved treatment exists for FRDA in
+ the United States, Canada, and the European Union, which improves neurological
+ outcomes but has not been fully evaluated for broader disease symptoms.
+ Therefore, identifying new therapeutic targets remains essential. Sphingolipids
+ are increasingly recognized for their roles in neurodegeneration with emerging
+ evidence indicating their dysregulation in FRDA. Here, we investigate whether
+ sphingolipid-metabolizing enzymes are similarly affected and assess the
+ therapeutic potential of targeting them. Our findings demonstrate that these
+ enzymes are dysregulated across multiple FRDA models. Importantly, their
+ modulation in vitro and in vivo significantly reduces mitochondrial dysfunction,
+ enhances frataxin expression, and improves key pathological features of the
+ disease, highlighting sphingolipid metabolism as a promising therapeutic target
+ for FRDA.
+CI - (c) 2026 The Author(s).
+FAU - Ramchunder, Zenouska
+AU - Ramchunder Z
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+FAU - Kalef-Ezra, Ester
+AU - Kalef-Ezra E
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+FAU - Suleman, Saqlain
+AU - Suleman S
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+FAU - Edzeamey, Fred Jonathan
+AU - Edzeamey FJ
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+FAU - Szunyogh, Sandor
+AU - Szunyogh S
+AD - Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
+FAU - Gittins, Owen
+AU - Gittins O
+AD - University of Cambridge, Cambridge, UK.
+FAU - Castro Mena, Natalia
+AU - Castro Mena N
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+FAU - Wade-Martins, Richard
+AU - Wade-Martins R
+AD - Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
+FAU - Valle, Adamo
+AU - Valle A
+AD - Energy Metabolism and Nutrition, Research Institute of Health Sciences (IUNICS),
+ University of the Balearic Islands, Palma, Spain.
+AD - Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.
+AD - Biomedical Research Networking Center for Physiopathology of Obesity and
+ Nutrition (CIBEROBN CB06/03/0043), Instituto de Salud Carlos III, Madrid, Spain.
+FAU - Pourzand, Charareh
+AU - Pourzand C
+AD - Department of Life Sciences, University of Bath, Bath, UK.
+FAU - Anjomani Virmouni, Sara
+AU - Anjomani Virmouni S
+AD - Department of Biosciences, College of Health, Medicine and Life Sciences (CHMLS),
+ Brunel University of London, London, UK.
+LA - eng
+PT - Journal Article
+DEP - 20260622
+PL - United States
+TA - iScience
+JT - iScience
+JID - 101724038
+PMC - PMC13316217
+OTO - NOTNLM
+OT - Cell biology
+OT - Genetics
+OT - Molecular biology
+OT - Physiology
+COIS- The authors declare that they have no known competing financial interests or
+ personal relationships that could have appeared to influence the work reported in
+ this paper.
+EDAT- 2026/07/01 06:35
+MHDA- 2026/07/01 06:36
+PMCR- 2026/06/22
+CRDT- 2026/07/01 05:19
+PHST- 2025/03/11 00:00 [received]
+PHST- 2026/02/09 00:00 [revised]
+PHST- 2026/06/03 00:00 [accepted]
+PHST- 2026/07/01 06:36 [medline]
+PHST- 2026/07/01 06:35 [pubmed]
+PHST- 2026/07/01 05:19 [entrez]
+PHST- 2026/06/22 00:00 [pmc-release]
+AID - S2589-0042(26)01854-7 [pii]
+AID - 116479 [pii]
+AID - 10.1016/j.isci.2026.116479 [doi]
+PST - epublish
+SO - iScience. 2026 Jun 22;29(7):116479. doi: 10.1016/j.isci.2026.116479. eCollection
+ 2026 Jul 17.
+
+PMID- 42331777
+OWN - NLM
+STAT- Publisher
+LR - 20260622
+IS - 2041-4889 (Electronic)
+DP - 2026 Jun 23
+TI - Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation
+ in Friedreich ataxia iPSC model.
+LID - 10.1038/s41419-026-09030-3 [doi]
+AB - Friedreich ataxia (FRDA) is a progressive neuromuscular degenerative disorder
+ caused by GAA repeat expansions in the FXN gene, leading to frataxin deficiency
+ and multisystem pathology. Cardiomyopathy is the leading cause of mortality in
+ individuals with FRDA. To investigate the cellular and molecular mechanisms
+ underlying FRDA-associated cardiac dysfunction, we employed induced pluripotent
+ stem cell (iPSC) lines derived from three individuals with FRDA, each paired with
+ an isogenic control line generated through CRISPR/Cas9-mediated excision of the
+ pathogenic GAA repeat expansion. Correction of the mutation restored FXN
+ expression to levels comparable to healthy donor iPSCs, and all lines
+ differentiated efficiently into cardiomyocytes. Functional analysis revealed
+ significant contractile abnormalities in FRDA cardiomyocytes and multicellular
+ cardiac microtissues, including prolonged contraction and relaxation times and
+ faster beating rates, consistent with clinical observations of cardiac
+ contractile dysfunction. FRDA cardiomyocytes also exhibited pathological features
+ such as increased cell size, irregular calcium transients, elevated mitochondrial
+ reactive oxygen species levels, increased mitochondrial fission and increased
+ cell death. These phenotypes were exacerbated by pathological levels of iron
+ supplementation in culture media, highlighting the heightened sensitivity of
+ frataxin-deficient cardiomyocytes to iron-induced metabolic stress. RNA
+ sequencing revealed a distinct transcriptional profile associated with frataxin
+ deficiency. MEG3 and PCDHGA10 were consistently dysregulated across all three
+ FRDA-iPSC lines and may represent early molecular markers of FRDA cardiomyopathy.
+ Functional interrogation of these candidates demonstrated that targeted silencing
+ of MEG3 or PCDHGA10 in FRDA cardiomyocytes significantly reduced
+ disease‑associated cell death without affecting FXN expression. Notably, PCDHGA10
+ silencing also normalized elevated mitochondrial reactive oxygen species, whereas
+ MEG3 silencing did not, highlighting gene‑specific contributions to FRDA
+ cardiomyocyte survival. Collectively, these findings identify MEG3 and PCDHGA10
+ as functionally relevant regulators of FRDA cardiomyocyte pathology.
+CI - (c) 2026. The Author(s).
+FAU - Lees, Jarmon G
+AU - Lees JG
+AUID- ORCID: 0000-0002-9259-8657
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+ jlees@svi.edu.au.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia. jlees@svi.edu.au.
+AD - Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash
+ University Parkville, Parkville, VIC, Australia. jlees@svi.edu.au.
+FAU - Zhang, Haoxiang
+AU - Zhang H
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Jiao, Lebei
+AU - Jiao L
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Kong, Anne M
+AU - Kong AM
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Phang, Ren Jie
+AU - Phang RJ
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Li, Li
+AU - Li L
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia.
+FAU - Su, Nan
+AU - Su N
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia.
+FAU - Bass-Stringer, Sebastian
+AU - Bass-Stringer S
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Woo, Hei-Yi H
+AU - Woo HH
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia.
+FAU - Mukhtar, Anthony S
+AU - Mukhtar AS
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Pebay, Alice
+AU - Pebay A
+AUID- ORCID: 0000-0002-7408-9453
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia.
+AD - Department of Anatomy and Physiology, University of Melbourne, Parkville, VIC,
+ Australia.
+FAU - Dottori, Mirella
+AU - Dottori M
+AD - School of Medical, Indigenous, and Health Sciences, Molecular Horizons, Faculty
+ of Science, Medicine and Health, University of Wollongong, Wollongong, NSW,
+ Australia.
+FAU - Corben, Louise
+AU - Corben L
+AD - Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research
+ Institute, Parkville, VIC, Australia.
+AD - Department of Paediatrics, Melbourne University, Parkville, VIC, Australia.
+FAU - Delatycki, Martin
+AU - Delatycki M
+AD - Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research
+ Institute, Parkville, VIC, Australia.
+AD - Department of Paediatrics, Melbourne University, Parkville, VIC, Australia.
+AD - Victorian Clinical Genetics Services, Parkville, VIC, Australia.
+FAU - Peverill, Roger
+AU - Peverill R
+AD - Victorian Heart Institute, Monash University, Clayton, VIC, Australia.
+FAU - Wilcox, Stephen
+AU - Wilcox S
+AD - Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
+FAU - Choi, Jarny
+AU - Choi J
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - Pullin, Jeffrey M
+AU - Pullin JM
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+FAU - McCarthy, Davis
+AU - McCarthy D
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia.
+AD - Melbourne Integrative Genomics, University of Melbourne, Parkville, VIC,
+ Australia.
+FAU - Napierala, Jill S
+AU - Napierala JS
+AD - Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas
+ Southwestern Medical Center, Dallas, TX, USA.
+FAU - Napierala, Marek
+AU - Napierala M
+AD - Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas
+ Southwestern Medical Center, Dallas, TX, USA.
+FAU - Lim, Shiang Y
+AU - Lim SY
+AUID- ORCID: 0000-0002-0442-3655
+AD - St Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
+ mlim@svi.edu.au.
+AD - Department of Medicine and Surgery, University of Melbourne, Parkville, VIC,
+ Australia. mlim@svi.edu.au.
+AD - Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash
+ University Parkville, Parkville, VIC, Australia. mlim@svi.edu.au.
+AD - National Heart Research Institute Singapore, National Heart Centre, Singapore,
+ Singapore. mlim@svi.edu.au.
+LA - eng
+GR - 2022018/Department of Health | National Health and Medical Research Council
+ (NHMRC)/
+GR - 2028004/Department of Health | National Health and Medical Research Council
+ (NHMRC)/
+GR - 2007421/Department of Health | National Health and Medical Research Council
+ (NHMRC)/
+GR - FA/Friedreich's Ataxia Research Alliance (FARA)/
+GR - 615496/National Ataxia Foundation (National Ataxia Foundation, Incorporated)/
+GR - 1036819/National Ataxia Foundation (National Ataxia Foundation, Incorporated)/
+GR - 108435-2024/National Heart Foundation of Australia (Heart Foundation)/
+PT - Journal Article
+DEP - 20260623
+PL - England
+TA - Cell Death Dis
+JT - Cell death & disease
+JID - 101524092
+SB - IM
+COIS- Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/23 00:35
+MHDA- 2026/06/23 00:35
+CRDT- 2026/06/22 23:23
+PHST- 2025/08/28 00:00 [received]
+PHST- 2026/06/16 00:00 [accepted]
+PHST- 2026/05/12 00:00 [revised]
+PHST- 2026/06/23 00:35 [medline]
+PHST- 2026/06/23 00:35 [pubmed]
+PHST- 2026/06/22 23:23 [entrez]
+AID - 10.1038/s41419-026-09030-3 [pii]
+AID - 10.1038/s41419-026-09030-3 [doi]
+PST - aheadofprint
+SO - Cell Death Dis. 2026 Jun 23. doi: 10.1038/s41419-026-09030-3.
+
+PMID- 42253100
+OWN - NLM
+STAT- Publisher
+LR - 20260608
+IS - 2214-3602 (Electronic)
+IS - 2214-3599 (Linking)
+DP - 2026 Jun 8
+TI - Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak
+ cough flow.
+PG - 22143602261452334
+LID - 10.1177/22143602261452334 [doi]
+AB - BackgroundFriedreich's ataxia (FRDA), a common hereditary ataxia with multisystem
+ involvement, is caused by a biallelic GAA trinucleotide repeat expansion in the
+ FXN gene, leading to reduced frataxin, mitochondrial dysfunction, and oxidative
+ stress. This study evaluates cough effectiveness through voluntary peak cough
+ flow (PCF).ObjectivesThe objective was to assess airway clearance dysfunction in
+ individuals with FRDA by examining PCF and its relationship with pulmonary and
+ oral strength, disease severity, and genetic factors.MethodsThis cross-sectional
+ study, part of the Biomarkers in Friedreich's Ataxia observational study,
+ involved 51 participants with molecularly proven FRDA undergoing respiratory
+ testing, including spirometry, PCF, maximal respiratory pressures, sniff nasal
+ inspiratory pressure, and lingual strength. Neurological impairment was assessed
+ using the Modified Friedreich's Ataxia Rating Scale (mFARS) and Functional
+ Staging for Ataxia.ResultsForty-seven participants completed PCF tests (31
+ female; mean age 22.60 years). Twenty-nine (61.7%) remained ambulant (mean mFARS
+ 49.91). Seventeen (36.17%) had reduced PCF (<270 L/min). Lower PCF correlated
+ with younger age, earlier disease onset, and decreased respiratory muscle
+ strength. PCF showed strong associations with maximal inspiratory pressure (MIP),
+ forced vital capacity (FVCpp), and maximal expiratory pressure (MEP). Multiple
+ regression identified MIP and age of symptom onset as primary
+ predictors.ConclusionsThe study demonstrates respiratory dysfunction in patients
+ with FRDA, and shows that disease severity and muscle weakness affect airway
+ clearance. PCF is a more direct and clinically meaningful indicator of cough
+ effectiveness than FVCpp. Comprehensive respiratory evaluations, including
+ muscle-strength testing, can identify individuals who may benefit from targeted
+ interventions to prevent complications.
+FAU - Smith, Barbara K
+AU - Smith BK
+AD - Department of Physical Therapy, College of Public Health and Health Profession,
+ University of Florida, Gainesville, FL, USA. RINGGOLD: 50543
+FAU - Coker, Mackenzi A
+AU - Coker MA
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Liberati, Cristina
+AU - Liberati C
+AUID- ORCID: 0000-0003-0394-7358
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Meyer, Blake P
+AU - Meyer BP
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Norman, Samantha
+AU - Norman S
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Ehrbar, Jessica
+AU - Ehrbar J
+AD - Department of Physical Therapy, College of Public Health and Health Profession,
+ University of Florida, Gainesville, FL, USA. RINGGOLD: 50543
+FAU - Leon-Astudillo, Carmen
+AU - Leon-Astudillo C
+AUID- ORCID: 0000-0003-1800-4301
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Subramony, Sub
+AU - Subramony S
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
+ FL, USA. RINGGOLD: 12233
+FAU - Corti, Manuela
+AU - Corti M
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+LA - eng
+PT - Journal Article
+DEP - 20260608
+PL - United States
+TA - J Neuromuscul Dis
+JT - Journal of neuromuscular diseases
+JID - 101649948
+SB - IM
+OTO - NOTNLM
+OT - Friedreich's ataxia
+OT - airway protection
+OT - breathing
+OT - cough
+EDAT- 2026/06/08 06:35
+MHDA- 2026/06/08 06:35
+CRDT- 2026/06/08 05:23
+PHST- 2026/06/08 06:35 [medline]
+PHST- 2026/06/08 06:35 [pubmed]
+PHST- 2026/06/08 05:23 [entrez]
+AID - 10.1177/22143602261452334 [doi]
+PST - aheadofprint
+SO - J Neuromuscul Dis. 2026 Jun 8:22143602261452334. doi: 10.1177/22143602261452334.
+
+PMID- 42227166
OWN - NLM
STAT- Publisher
-LR - 20260514
+LR - 20260602
+IS - 2328-9503 (Electronic)
+IS - 2328-9503 (Linking)
+DP - 2026 Jun 2
+TI - Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene
+ Deletions.
+LID - 10.1002/acn3.70408 [doi]
+AB - We present Friedreich ataxia patients with frataxin gene deletions. Data and
+ records were collected at the Children's Hospital of Philadelphia from patients
+ enrolled in the FACOMS natural history study. Patients with proximal deletions
+ initially diagnosed with only one GAA expanded allele had more severe disease
+ than their homozygous expansion counterparts, including increased frequency of
+ cardiomyopathy, diabetes, and optic neuropathy. Their phenotypes were like those
+ of individuals with distal deletions and null pathogenic variants in the frataxin
+ gene. Covert proximal frataxin gene deletions should be suspected when genetic
+ testing fails to demonstrate two distinct expanded alleles in patients with
+ severe phenotypes.
+CI - (c) 2026 The Author(s). Annals of Clinical and Translational Neurology published by
+ Wiley Periodicals LLC on behalf of American Neurological Association.
+FAU - Lazaropoulos, Michael P
+AU - Lazaropoulos MP
+AD - Lewis Katz School of Medicine, Temple University, Philadelphia, Pennsylvania,
+ USA.
+FAU - Devore, Morgan C
+AU - Devore MC
+AD - Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma
+ City, Oklahoma, USA.
+FAU - Lam, Christina
+AU - Lam C
+AD - Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma
+ City, Oklahoma, USA.
+FAU - Park, Courtney
+AU - Park C
+AD - Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
+FAU - Bidichandani, Sanjay
+AU - Bidichandani S
+AD - Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma
+ City, Oklahoma, USA.
+FAU - Lynch, David R
+AU - Lynch DR
+AUID- ORCID: 0000-0001-7168-214X
+AD - Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
+AD - University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
+LA - eng
+GR - Friedreich's Ataxia Research Alliance/
+GR - HT94252510541/Department of Defense, United States Government/
+GR - HT94252510542/Department of Defense, United States Government/
+PT - Journal Article
+DEP - 20260602
+PL - United States
+TA - Ann Clin Transl Neurol
+JT - Annals of clinical and translational neurology
+JID - 101623278
+SB - IM
+OTO - NOTNLM
+OT - FXN gene
+OT - Friedreich ataxia
+OT - gene deletions
+OT - genetic testing
+OT - repeat expansions
+EDAT- 2026/06/02 06:36
+MHDA- 2026/06/02 06:36
+CRDT- 2026/06/02 05:24
+PHST- 2026/03/19 00:00 [revised]
+PHST- 2026/01/15 00:00 [received]
+PHST- 2026/04/05 00:00 [accepted]
+PHST- 2026/06/02 06:36 [medline]
+PHST- 2026/06/02 06:36 [pubmed]
+PHST- 2026/06/02 05:24 [entrez]
+AID - 10.1002/acn3.70408 [doi]
+PST - aheadofprint
+SO - Ann Clin Transl Neurol. 2026 Jun 2. doi: 10.1002/acn3.70408.
+
+PMID- 42134333
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260616
+LR - 20260616
IS - 2666-3791 (Electronic)
IS - 2666-3791 (Linking)
-DP - 2026 May 13
+VI - 7
+IP - 6
+DP - 2026 Jun 16
TI - Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating
frataxin in Friedreich's ataxia models.
PG - 102803
LID - S2666-3791(26)00220-X [pii]
LID - 10.1016/j.xcrm.2026.102803 [doi]
+LID - 102803
AB - Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease
caused by a GAA repeat expansion in the frataxin (FXN) gene, leading to reduced
frataxin, a protein essential for mitochondrial function. We developed a
@@ -106,7 +574,23 @@ PL - United States
TA - Cell Rep Med
JT - Cell reports. Medicine
JID - 101766894
+RN - 0 (Frataxin)
+RN - 0 (Iron-Binding Proteins)
+RN - 0 (Cell-Penetrating Peptides)
SB - IM
+MH - *Friedreich Ataxia/therapy/genetics/pathology/metabolism
+MH - Frataxin
+MH - Animals
+MH - *Iron-Binding Proteins/genetics/metabolism
+MH - *Hematopoietic Stem Cells/metabolism/cytology
+MH - Humans
+MH - Mice
+MH - Disease Models, Animal
+MH - *Hematopoietic Stem Cell Transplantation
+MH - *Cell-Penetrating Peptides/metabolism
+MH - Genetic Therapy
+MH - Mitochondria/metabolism
+PMC - PMC13293935
OTO - NOTNLM
OT - ataxia
OT - behavioural assays
@@ -121,18 +605,22 @@ COIS- Declaration of interests The codon-optimized DNA sequence encoding the fus
protein described in the manuscript has been the subject of UK Patent application
no. 2413430.6. A.S. and Brunel University London.
EDAT- 2026/05/15 00:31
-MHDA- 2026/05/15 00:31
+MHDA- 2026/06/17 00:36
+PMCR- 2026/05/13
CRDT- 2026/05/14 18:41
PHST- 2024/11/11 00:00 [received]
PHST- 2025/12/21 00:00 [revised]
PHST- 2026/04/16 00:00 [accepted]
-PHST- 2026/05/15 00:31 [medline]
+PHST- 2026/06/17 00:36 [medline]
PHST- 2026/05/15 00:31 [pubmed]
PHST- 2026/05/14 18:41 [entrez]
+PHST- 2026/05/13 00:00 [pmc-release]
AID - S2666-3791(26)00220-X [pii]
+AID - 102803 [pii]
AID - 10.1016/j.xcrm.2026.102803 [doi]
-PST - aheadofprint
-SO - Cell Rep Med. 2026 May 13:102803. doi: 10.1016/j.xcrm.2026.102803.
+PST - ppublish
+SO - Cell Rep Med. 2026 Jun 16;7(6):102803. doi: 10.1016/j.xcrm.2026.102803. Epub 2026
+ May 13.
PMID- 42094143
OWN - NLM
@@ -315,8 +803,8 @@ SO - medRxiv [Preprint]. 2026 May 1:2026.04.30.26352103. doi:
PMID- 42018061
OWN - NLM
STAT- MEDLINE
-DCOM- 20260422
-LR - 20260425
+DCOM- 20260622
+LR - 20260622
IS - 1559-1182 (Electronic)
IS - 0893-7648 (Print)
IS - 0893-7648 (Linking)
@@ -397,22 +885,23 @@ JID - 8900963
RN - 0 (Flavones)
RN - EC 2.7.10.1 (Receptor, trkB)
RN - 0 (6,7-dihydroxyflavone)
+RN - 0 (Iron-Binding Proteins)
RN - 0 (Brain-Derived Neurotrophic Factor)
-RN - 0 (Frataxin)
SB - IM
MH - Animals
-MH - *Friedreich Ataxia/pathology/drug therapy/metabolism/genetics
MH - *Apoptosis/drug effects
+MH - *Friedreich Ataxia/pathology/metabolism/drug therapy/genetics
MH - *Neurons/drug effects/metabolism/pathology
-MH - *Flavones/pharmacology/therapeutic use
MH - *DNA Damage/drug effects
+MH - *Flavones/pharmacology/therapeutic use
MH - *Receptor, trkB/agonists/metabolism
-MH - Mice
-MH - Disease Models, Animal
-MH - Brain-Derived Neurotrophic Factor/metabolism
-MH - Mitochondria/metabolism/drug effects
+MH - Mitochondria/drug effects/metabolism
MH - Cells, Cultured
-MH - Frataxin
+MH - Iron-Binding Proteins/metabolism
+MH - *Models, Biological
+MH - Brain-Derived Neurotrophic Factor/metabolism
+MH - Disease Models, Animal
+MH - Mice
PMC - PMC13102869
OTO - NOTNLM
OT - 7,8-dihydroxyflavone
@@ -448,8 +937,8 @@ SO - Mol Neurobiol. 2026 Apr 22;63(1):580. doi: 10.1007/s12035-026-05856-2.
PMID- 41954755
OWN - NLM
STAT- MEDLINE
-DCOM- 20260409
-LR - 20260522
+DCOM- 20260621
+LR - 20260621
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -551,29 +1040,30 @@ PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
-RN - 0 (Frataxin)
RN - 0 (Iron-Binding Proteins)
-RN - 0 (neurofilament protein L)
+RN - 0 (Frataxin)
RN - 0 (Neurofilament Proteins)
+RN - 0 (neurofilament protein L)
RN - 0 (Biomarkers)
SB - IM
MH - Humans
MH - *Friedreich Ataxia/genetics/cerebrospinal fluid/diagnosis/physiopathology
-MH - Male
-MH - Female
MH - Disease Progression
MH - Longitudinal Studies
-MH - Adult
+MH - Female
+MH - Iron-Binding Proteins/metabolism/genetics
+MH - Male
MH - Frataxin
-MH - Iron-Binding Proteins/genetics/metabolism
-MH - Middle Aged
-MH - Young Adult
MH - Neurofilament Proteins/cerebrospinal fluid
+MH - Adult
+MH - *Trinucleotide Repeat Expansion/genetics
MH - Severity of Illness Index
MH - Adolescent
-MH - *Trinucleotide Repeat Expansion/genetics
+MH - Young Adult
MH - Biomarkers/cerebrospinal fluid
-MH - Prospective Studies
+MH - Fibroblasts/metabolism
+MH - Child
+MH - Middle Aged
PMC - PMC13065527
OTO - NOTNLM
OT - Biomarkers
@@ -3927,7 +4417,7 @@ PMID- 40296143
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20260127
+LR - 20260621
IS - 1756-8935 (Electronic)
IS - 1756-8935 (Linking)
VI - 18
@@ -4964,7 +5454,7 @@ PMID- 39496895
OWN - NLM
STAT- MEDLINE
DCOM- 20250109
-LR - 20260102
+LR - 20260605
IS - 1476-5438 (Electronic)
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
@@ -5916,7 +6406,7 @@ PMID- 38396238
OWN - NLM
STAT- MEDLINE
DCOM- 20240514
-LR - 20240703
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 11
@@ -24939,6 +25429,7 @@ AID - 10.1371/journal.pone.0047085 [doi]
PST - ppublish
SO - PLoS One. 2012;7(10):e47085. doi: 10.1371/journal.pone.0047085. Epub 2012 Oct 11.
+
PMID- 22798143
OWN - NLM
STAT- MEDLINE
@@ -25329,7 +25820,6 @@ PST - ppublish
SO - J Child Neurol. 2012 Sep;27(9):1159-63. doi: 10.1177/0883073812448460. Epub 2012
Jun 29.
-
PMID- 22691228
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/GIPC1_batch_01.txt b/data/literature/GIPC1_batch_01.txt
index 0b559200..4630d955 100644
--- a/data/literature/GIPC1_batch_01.txt
+++ b/data/literature/GIPC1_batch_01.txt
@@ -155,8 +155,9 @@ SO - Mov Disord. 2026 Apr 13. doi: 10.1002/mds.70305.
PMID- 41888971
OWN - NLM
-STAT- In-Process
-LR - 20260329
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -195,8 +196,7 @@ AB - BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle dis
allele-specific flanking sequences, and the combined effects of repeat size and
methylation contribute to patient regional frequency, repeat stability, and
clinical variability, respectively, offering insight into disease pathomechanism
- and potential therapeutic targets. SUPPLEMENTARY INFORMATION: The online version
- contains supplementary material available at 10.1186/s13073-026-01617-x.
+ and potential therapeutic targets.
FAU - Eura, Nobuyuki
AU - Eura N
AD - Department of Neuromuscular Research, National Institute of Neuroscience,
@@ -261,7 +261,28 @@ PL - England
TA - Genome Med
JT - Genome medicine
JID - 101475844
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Adaptor Proteins, Signal Transducing)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Oculopharyngodistal Myopathy
SB - IM
+MH - Humans
+MH - *DNA Methylation
+MH - *Trinucleotide Repeat Expansion
+MH - Haplotypes
+MH - *Muscular Dystrophies/genetics
+MH - Male
+MH - Female
+MH - Adaptor Proteins, Signal Transducing/genetics
+MH - Phenotype
+MH - Adult
+MH - Genetic Association Studies
+MH - Adolescent
+MH - CpG Islands
+MH - Child
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
PMC - PMC13023157
OTO - NOTNLM
OT - Epigenomic modification
@@ -277,12 +298,12 @@ COIS- Declarations. Ethics approval and consent to participate: All patients pro
in this study was obtained from all participants. Competing interests: The
authors declare no competing interests.
EDAT- 2026/03/27 07:14
-MHDA- 2026/03/27 07:14
+MHDA- 2026/06/27 18:39
PMCR- 2026/03/27
CRDT- 2026/03/27 01:15
PHST- 2025/07/15 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
-PHST- 2026/03/27 07:14 [medline]
+PHST- 2026/06/27 18:39 [medline]
PHST- 2026/03/27 07:14 [pubmed]
PHST- 2026/03/27 01:15 [entrez]
PHST- 2026/03/27 00:00 [pmc-release]
@@ -295,8 +316,8 @@ SO - Genome Med. 2026 Mar 27;18(1):33. doi: 10.1186/s13073-026-01617-x.
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -369,13 +390,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
@@ -410,8 +441,9 @@ SO - Acta Neuropathol Commun. 2026 Mar 6;14(1):90. doi: 10.1186/s40478-026-0227
PMID- 41555317
OWN - NLM
-STAT- In-Process
-LR - 20260214
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1471-2458 (Electronic)
IS - 1471-2458 (Linking)
VI - 26
@@ -451,9 +483,7 @@ AB - INTRODUCTION: Low- and Middle-Income Countries (LMICs), burdened with a hi
to the current expenditure of BMIS fund and 2.68 and 14.12 parts per million
relative to current balance of BMIS fund. CONCLUSION: The BIA framework provided
a valuable reference for policy formulation in other LMICs with a high burden of
- cervical cancer that have not yet included the vaccine in their NIPs.
- SUPPLEMENTARY INFORMATION: The online version contains supplementary material
- available at 10.1186/s12889-026-26216-8.
+ cervical cancer that have not yet included the vaccine in their NIPs.
FAU - Li, Yi
AU - Li Y
AUID- ORCID: 0000-0001-8449-6522
@@ -491,7 +521,17 @@ PL - England
TA - BMC Public Health
JT - BMC public health
JID - 100968562
+RN - 0 (Papillomavirus Vaccines)
SB - IM
+MH - Female
+MH - Humans
+MH - *Papillomavirus Vaccines/economics/administration & dosage
+MH - *Uterine Cervical Neoplasms/prevention & control/economics/epidemiology
+MH - China/epidemiology
+MH - *Immunization Programs/economics
+MH - *Papillomavirus Infections/prevention & control
+MH - *Developing Countries
+MH - Cost-Benefit Analysis
PMC - PMC12895656
OTO - NOTNLM
OT - Budget impact analysis
@@ -502,13 +542,13 @@ OT - LMICs
COIS- Declarations. Ethics approval and consent to participate: Not applicable.
Competing interests: The authors declare no competing interests.
EDAT- 2026/01/20 00:37
-MHDA- 2026/01/20 00:37
+MHDA- 2026/06/27 06:45
PMCR- 2026/01/19
CRDT- 2026/01/19 23:59
PHST- 2024/08/02 00:00 [received]
PHST- 2026/01/05 00:00 [accepted]
+PHST- 2026/06/27 06:45 [medline]
PHST- 2026/01/20 00:37 [pubmed]
-PHST- 2026/01/20 00:37 [medline]
PHST- 2026/01/19 23:59 [entrez]
PHST- 2026/01/19 00:00 [pmc-release]
AID - 10.1186/s12889-026-26216-8 [pii]
diff --git a/data/literature/GLS_batch_01.txt b/data/literature/GLS_batch_01.txt
index 0fd9969b..9c6652d1 100644
--- a/data/literature/GLS_batch_01.txt
+++ b/data/literature/GLS_batch_01.txt
@@ -2,7 +2,7 @@
PMID- 41501457
OWN - NLM
STAT- In-Process
-LR - 20260228
+LR - 20260603
IS - 1476-4687 (Electronic)
IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
@@ -114,6 +114,8 @@ AD - Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical
AD - Program in Medical and Population Genetics, Broad Institute of MIT and Harvard,
Cambridge, MA, USA. poruloh@broadinstitute.org.
LA - eng
+GR - R01 HG013110/HG/NHGRI NIH HHS/United States
+GR - R56 HG012698/HG/NHGRI NIH HHS/United States
PT - Journal Article
DEP - 20260107
PL - England
diff --git a/data/literature/GOLGA8A_batch_01.txt b/data/literature/GOLGA8A_batch_01.txt
index 65158eb4..5a538fc0 100644
--- a/data/literature/GOLGA8A_batch_01.txt
+++ b/data/literature/GOLGA8A_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 41820575
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260418
+DCOM- 20260620
+LR - 20260620
IS - 1546-1718 (Electronic)
IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
@@ -647,21 +647,18 @@ RN - 0 (Ubiquitin)
RN - 0 (Membrane Proteins)
SB - IM
MH - Humans
-MH - *Frontotemporal Lobar Degeneration/genetics/pathology
+MH - *Frontotemporal Lobar Degeneration/genetics/pathology/metabolism
+MH - Genome-Wide Association Study
+MH - Polymorphism, Single Nucleotide/genetics
MH - *Genetic Predisposition to Disease
MH - Risk Factors
-MH - Genome-Wide Association Study
+MH - Haplotypes
MH - *Ubiquitin/metabolism/genetics
-MH - Male
-MH - Polymorphism, Single Nucleotide
-MH - Female
MH - *Membrane Proteins/genetics
-MH - *Inclusion Bodies/metabolism/pathology/genetics
MH - *DNA Repeat Expansion/genetics
-MH - Middle Aged
-MH - Haplotypes
+MH - Female
+MH - Male
MH - Case-Control Studies
-MH - Aged
PMC - PMC13083237
COIS- Competing interests: W.D.C. has received free consumables and travel
reimbursement from Oxford Nanopore Technologies. W.D.C. and R.R. are inventors on
diff --git a/data/literature/HTT_batch_01.txt b/data/literature/HTT_batch_01.txt
index 327855fe..7d4ad423 100644
--- a/data/literature/HTT_batch_01.txt
+++ b/data/literature/HTT_batch_01.txt
@@ -1,8 +1,1132 @@
+PMID- 42385197
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260701
+LR - 20260701
+IS - 1478-3231 (Electronic)
+IS - 1478-3223 (Linking)
+VI - 46
+IP - 8
+DP - 2026 Aug
+TI - CD11c(+) T-Bet(+) B Cell Expansion Reveals a Distinct Pathogenic Signature in
+ Autoimmune Liver Diseases.
+PG - e70761
+LID - 10.1111/liv.70761 [doi]
+AB - BACKGROUND AND AIMS: Autoimmune hepatitis (AIH) and primary biliary cholangitis
+ (PBC) are distinct autoimmune liver diseases (AILDs) that differ in pathogenesis
+ and response to therapy. Moreover, some patients exhibit features of both, known
+ as AIH/PBC overlap. Although AILDs are traditionally considered T cell-driven, B
+ cells have emerged as key contributors to disease progression. In this study, we
+ investigated CD11c(+)T-bet(+) B cells, implicated in different autoimmune
+ diseases and never explored in AILDs. METHODS: Circulating peripheral blood
+ mononuclear cells (PBMC) were isolated from whole blood obtained from patients
+ with AIH (n = 15), PBC (n = 8), AIH/PBC overlap syndrome (n = 11), and healthy
+ donors (HD, n = 12). B and T cell subsets were analysed by conventional and
+ spectral flow-cytometry. Clinical and laboratory parameters were recorded at the
+ time of sample collection, and serum IL-21, sCD40L, and BAFF levels were measured
+ by ELISA and by flow cytometry. RESULTS: Total CD19(+) B-cell frequencies were
+ comparable across groups. However, the canonical atypical B-cell subset defined
+ as CD11c(+)T-bet(+)CD21(-) was significantly expanded in AIH and AIH/PBC patients
+ but not in PBC. Phenotypic characterisation showed that these cells were enriched
+ in double-negative and naive-like B-cell subsets and displayed the expected
+ chemokine receptor profile of atypical B cells, with higher CXCR3 and lower CXCR5
+ expression compared with conventional B cells. Circulating follicular helper T
+ cells (cTfh) were increased in AIH and AIH/PBC and correlated with the overall
+ T-bet(+) B-cell compartment. Serum IL-21 levels were higher in patients with
+ AILDs, particularly in treatment non-responders. CONCLUSIONS: Expansion of
+ atypical CD11c(+)T-bet(+) B cells, together with increased cTfh frequencies,
+ hallmarks AIH and AIH/PBC. These findings support disease-specific B-cell
+ alterations and distinct immune signatures in AIH and AIH/PBC compared with PBC,
+ highlighting potential therapeutic implications for targeting pathogenic B cell
+ subsets in AIH.
+CI - (c) 2026 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
+FAU - D'Orso, Silvia
+AU - D'Orso S
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - La Gualana, Francesca
+AU - La Gualana F
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Vignone, Anthony
+AU - Vignone A
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Acati, Silvia
+AU - Acati S
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Oliva, Francesca
+AU - Oliva F
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Villa, Annalisa
+AU - Villa A
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Maiorca, Francesca
+AU - Maiorca F
+AUID- ORCID: 0000-0002-5412-5760
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Casato, Milvia
+AU - Casato M
+AUID- ORCID: 0000-0003-1841-6808
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Stefanini, Lucia
+AU - Stefanini L
+AUID- ORCID: 0000-0001-7420-301X
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Piconese, Silvia
+AU - Piconese S
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Teocchi, Marcelo
+AU - Teocchi M
+AD - Department of Medical Sciences, Immunology and Allergy Unit, University of Turin,
+ Mauriziano Hospital, Turin, Italy.
+FAU - Borsellino, Giovanna
+AU - Borsellino G
+AD - Neuroimmunology and Flow Cytometry Units, IRCCS Santa Lucia Foundation, Rome,
+ Italy.
+FAU - Basili, Stefania
+AU - Basili S
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Alvaro, Domenico
+AU - Alvaro D
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Visentini, Marcella
+AU - Visentini M
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+AD - Department of Translational and Precision Medicine, Laboratory Affiliated to
+ Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Sapienza University of Rome,
+ Rome, Italy.
+FAU - Cardinale, Vincenzo
+AU - Cardinale V
+AD - Department of Translational and Precision Medicine, Sapienza University of Rome,
+ Rome, Italy.
+AD - Division of Gastroenterology, Hepatology and Nutrition, Beth Israel Deaconess
+ Medical Center, Harvard Medical School, Boston, USA.
+AD - Department of Internal Medicine, Division of Gastroenterology, Saint Louis
+ University School of Medicine-SSM SLUCare, SLU Hospital, St. Louis, Missouri,
+ USA.
+LA - eng
+GR - Istituto Pasteur-Fondazione Cenci Bolognetti/
+GR - B53C22004000006/European Union - NextGenerationEU through the Italian Ministry of
+ University and Research under PNRR/
+GR - B53C22004000006/PE 6 FONDAZIONE HEAL ITALIA 'Health Extended Alliance for
+ Innovative Therapies, Advanced Lab-research and Integrated Approaches of
+ Precision Medicine'/
+GR - 00000024/Rome Technopole Flagship 4 FP 4 - Development, innovation and
+ certification of medical and non-medical devices for health/
+GR - B93D21010860004/European Union - Next Generation EU, Mission 4, Component 2/
+GR - B53C22006120001/PNC 0000001 D3 4 Health/
+GR - The National Plan for Complementary Investments to the NRRP/
+GR - 20222J7W2K/PRIN 2022/
+PT - Journal Article
+PL - United States
+TA - Liver Int
+JT - Liver international : official journal of the International Association for the
+ Study of the Liver
+JID - 101160857
+RN - 0 (T-Box Domain Proteins)
+RN - MKM3CA6LT1 (Interleukin-21)
+RN - 0 (Interleukins)
+RN - 0 (T-bet Transcription Factor)
+RN - 0 (CD11c Antigen)
+RN - 0 (Receptors, CXCR3)
+RN - 0 (B-Cell Activating Factor)
+SB - IM
+MH - Humans
+MH - *Liver Cirrhosis, Biliary/immunology/blood
+MH - Female
+MH - *Hepatitis, Autoimmune/immunology/blood
+MH - *T-Box Domain Proteins
+MH - Male
+MH - *B-Lymphocytes/immunology
+MH - Middle Aged
+MH - Interleukin-21
+MH - Interleukins/blood
+MH - T-bet Transcription Factor
+MH - Adult
+MH - *CD11c Antigen
+MH - Flow Cytometry
+MH - Aged
+MH - Receptors, CXCR3
+MH - Case-Control Studies
+MH - *B-Lymphocyte Subsets/immunology
+MH - B-Cell Activating Factor/blood
+OAB - Peripheral B cell compartment is altered in AIH, PBC, and AIH/PBC.
+ CD11c(+)T-bet(+) atypical B cells are expanded in AIH and AIH/PBC and not in PBC.
+ Increased cTfh cells are observed in AIH and AIH/PBC and high IL-21 level was
+ found in non-responders AILDs patients. Distinct immune signatures support
+ improved classification and targeted therapies in AILDs.
+OABL- eng
+OTO - NOTNLM
+OT - IL-21primary biliary cholangitis (PBC)
+OT - atypical B cells
+OT - autoimmune hepatitis (AIH)
+OT - circulating follicular helper T cells (cTfh)
+EDAT- 2026/07/01 22:34
+MHDA- 2026/07/01 22:35
+CRDT- 2026/07/01 16:43
+PHST- 2026/06/03 00:00 [revised]
+PHST- 2025/09/01 00:00 [received]
+PHST- 2026/06/10 00:00 [accepted]
+PHST- 2026/07/01 22:35 [medline]
+PHST- 2026/07/01 22:34 [pubmed]
+PHST- 2026/07/01 16:43 [entrez]
+AID - 10.1111/liv.70761 [doi]
+PST - ppublish
+SO - Liver Int. 2026 Aug;46(8):e70761. doi: 10.1111/liv.70761.
+
+PMID- 42362792
+OWN - NLM
+STAT- Publisher
+LR - 20260626
+IS - 1757-4684 (Electronic)
+IS - 1757-4676 (Linking)
+DP - 2026 Jun 26
+TI - Anle138b ameliorates pathological phenotypes in mouse and cellular models of
+ Huntington's disease.
+LID - 10.1038/s44321-026-00459-9 [doi]
+AB - Huntington's disease (HD) is a hereditary movement disorder caused by a CAG
+ repeat expansion in the huntingtin gene. HD is characterized by deposition of
+ mutant huntingtin (mHTT) aggregates, and by severe neurodegeneration of the basal
+ ganglia and neocortex. No cure is currently available, and new treatment options
+ are urgently needed. Here, we show that the oligomer modifying molecule anle138b
+ (INN: emrusolmin) improves multiple disease phenotypes in cell culture and in two
+ mouse models of HD. Application of anle138b reduced mHTT aggregate formation and
+ ameliorated neurotoxicity in primary neurons. Oral administration of anle138b
+ delayed deposition of mHTT inclusions, reduced brain atrophy, mitigated
+ neuroinflammation and transcriptional alterations, improved motor function and
+ extended life span in HD mice. Downregulation of striatal markers and synapse
+ loss in striatal spiny projection neurons were also partially rescued. No adverse
+ effects of anle138b were observed in wildtype animals. Moreover, anle138b
+ markedly decreased mHTT aggregation in human neural precursor cells
+ differentiated from HD patient-derived induced pluripotent stem cells (iPSCs).
+ Altogether these results illustrate the potential of anle138b as a
+ disease-modifying treatment for HD.
+CI - (c) 2026. The Author(s).
+FAU - da Silva Padilha, Miguel
+AU - da Silva Padilha M
+AUID- ORCID: 0000-0001-8141-7163
+AD - Center for Anatomy, Faculty of Medicine and University Hospital Cologne,
+ University of Cologne, Cologne, Germany.
+AD - Department of Molecules - Signaling - Development, Max Planck Institute for
+ Biological Intelligence, Martinsried, Germany.
+AD - Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated
+ Diseases (CECAD), University of Cologne, Cologne, Germany.
+FAU - Koyuncu, Seda
+AU - Koyuncu S
+AD - Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated
+ Diseases (CECAD), University of Cologne, Cologne, Germany.
+AD - Institute for Integrated Stress Response Signaling, Faculty of Medicine,
+ University Hospital Cologne, Cologne, Germany.
+FAU - Chabanis, Evangeline
+AU - Chabanis E
+AD - Center for Anatomy, Faculty of Medicine and University Hospital Cologne,
+ University of Cologne, Cologne, Germany.
+FAU - Ryazanov, Sergey
+AU - Ryazanov S
+AD - Department of NMR Based Structural Biology, Max Planck Institute of
+ Multidisciplinary Sciences, Gottingen, Germany.
+FAU - Leonov, Andrei
+AU - Leonov A
+AUID- ORCID: 0000-0002-5586-9382
+AD - Department of NMR Based Structural Biology, Max Planck Institute of
+ Multidisciplinary Sciences, Gottingen, Germany.
+FAU - Vilchez, David
+AU - Vilchez D
+AUID- ORCID: 0000-0002-0801-0743
+AD - Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated
+ Diseases (CECAD), University of Cologne, Cologne, Germany.
+AD - Institute for Integrated Stress Response Signaling, Faculty of Medicine,
+ University Hospital Cologne, Cologne, Germany.
+AD - Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University
+ Hospital Cologne, University of Cologne, Cologne, Germany.
+FAU - Klein, Rudiger
+AU - Klein R
+AUID- ORCID: 0000-0002-3109-0163
+AD - Department of Molecules - Signaling - Development, Max Planck Institute for
+ Biological Intelligence, Martinsried, Germany.
+FAU - Giese, Armin
+AU - Giese A
+AD - MODAG GmbH, Wendelsheim, Germany.
+FAU - Griesinger, Christian
+AU - Griesinger C
+AUID- ORCID: 0000-0002-1266-4344
+AD - Department of NMR Based Structural Biology, Max Planck Institute of
+ Multidisciplinary Sciences, Gottingen, Germany.
+AD - Cluster of Excellence "Multiscale Bioimaging: From Molecular Machines to Networks
+ of Excitable Cells" (MBExC), University of Gottingen, Gottingen, Germany.
+FAU - Dudanova, Irina
+AU - Dudanova I
+AUID- ORCID: 0000-0003-1052-8485
+AD - Center for Anatomy, Faculty of Medicine and University Hospital Cologne,
+ University of Cologne, Cologne, Germany. irina.dudanova@uni-wuerzburg.de.
+AD - Department of Molecules - Signaling - Development, Max Planck Institute for
+ Biological Intelligence, Martinsried, Germany. irina.dudanova@uni-wuerzburg.de.
+AD - Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated
+ Diseases (CECAD), University of Cologne, Cologne, Germany.
+ irina.dudanova@uni-wuerzburg.de.
+AD - Institute of Anatomy and Cell Biology, University of Wurzburg, Wurzburg, Germany.
+ irina.dudanova@uni-wuerzburg.de.
+LA - eng
+GR - SPP2453 project number 541742535/Deutsche Forschungsgemeinschaft (DFG)/
+GR - SFB1451 project number 431549029/Deutsche Forschungsgemeinschaft (DFG)/
+GR - EXC 2030-390661388/Deutsche Forschungsgemeinschaft (DFG)/
+GR - EXC 2030-390661388/Deutsche Forschungsgemeinschaft (DFG)/
+GR - EXC 2067/1-390729940/Deutsche Forschungsgemeinschaft (DFG)/
+GR - FOR5762 project number 531902955/Deutsche Forschungsgemeinschaft (DFG)/
+PT - Journal Article
+DEP - 20260626
+PL - Germany
+TA - EMBO Mol Med
+JT - EMBO molecular medicine
+JID - 101487380
+SB - IM
+COIS- Disclosure and competing interests statement. AG and CG are co-founders and
+ shareholders of MODAG. AG is a full-time employee of MODAG. AL and SR are partly
+ employed by MODAG and are beneficiaries of the phantom share program of MODAG
+ GmbH. AL, SR, CG, and AG are co-inventors of WO/2010/000372. Anle138b is licensed
+ by Teva Pharmaceutical Industries Ltd and is in clinical development in
+ collaboration with MODAG.
+EDAT- 2026/06/27 00:52
+MHDA- 2026/06/27 00:52
+CRDT- 2026/06/26 23:22
+PHST- 2025/03/05 00:00 [received]
+PHST- 2026/05/20 00:00 [accepted]
+PHST- 2026/05/18 00:00 [revised]
+PHST- 2026/06/27 00:52 [medline]
+PHST- 2026/06/27 00:52 [pubmed]
+PHST- 2026/06/26 23:22 [entrez]
+AID - 10.1038/s44321-026-00459-9 [pii]
+AID - 10.1038/s44321-026-00459-9 [doi]
+PST - aheadofprint
+SO - EMBO Mol Med. 2026 Jun 26. doi: 10.1038/s44321-026-00459-9.
+
+PMID- 42327018
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260622
+LR - 20260622
+IS - 2692-8205 (Electronic)
+IS - 2692-8205 (Linking)
+DP - 2026 Jun 10
+TI - Somatic CRISPR editing of Msh3 mitigates Huntington's disease pathology in mice.
+LID - 2026.06.08.730940 [pii]
+LID - 10.64898/2026.06.08.730940 [doi]
+AB - Huntington's disease (HD) is a fatal, dominantly inherited neurodegenerative
+ disorder caused by a CAG repeat expansion in Huntingtin ( HTT ) exon 1. Further
+ progressive CAG repeat expansion occurs in somatic cells, particularly in
+ neurons, and drives the timing of clinical onset. Therefore, therapeutic
+ strategies to slow somatic expansion are predicted to be disease-modifying.
+ Somatic CAG expansion is driven by mismatch repair protein MSH3, a leading
+ therapeutic target supported by human genetic data. To gain insight into the
+ impact of targeting MSH3 at different stages of the disease process we used
+ somatic CRISPR-Cas9 editing to knock out Msh3 in Htt (Q111) mice at ages of 6,
+ 16, 24 weeks exhibiting progressively increasing somatic expansion. Intervention
+ at all three ages slowed striatal CAG expansion, reduced nuclear huntingtin
+ pathology and suppressed transcriptional dysregulation, with earlier intervention
+ having greater impact. Msh3 knockout also suppressed the production of the exon 1
+ Htt1a transcript. The results of our study provide important preclinical
+ information relevant to an MSH3 therapeutic in humans that would be expected to
+ impact a subset of cells in the brain, provide insight into the influence of
+ timing of intervention on therapeutic effectiveness and deepen our understanding
+ of how targeting MSH3 could alter the trajectory of HD.
+FAU - Oliver, Esaria
+AU - Oliver E
+AUID- ORCID: 0009-0006-7003-4347
+FAU - Kovalenko, Marina
+AU - Kovalenko M
+FAU - Louca, Mathilde
+AU - Louca M
+AUID- ORCID: 0009-0007-4242-5030
+FAU - Jiang, Andrew
+AU - Jiang A
+AUID- ORCID: 0000-0002-7267-013X
+FAU - Westerdahl, Jordan
+AU - Westerdahl J
+FAU - Correia, Kevin
+AU - Correia K
+FAU - Jones, Benjamin
+AU - Jones B
+AUID- ORCID: 0009-0000-9619-4468
+FAU - Saif, Faaiza
+AU - Saif F
+FAU - Romano, Nicole
+AU - Romano N
+FAU - Sidhu, Ashna
+AU - Sidhu A
+FAU - Gillis, Tammy
+AU - Gillis T
+FAU - Elezi, Emanuela
+AU - Elezi E
+FAU - Murtha, Ryan
+AU - Murtha R
+FAU - Pinto, Ricardo Mouro
+AU - Pinto RM
+AUID- ORCID: 0000-0001-6744-2805
+FAU - Wheeler, Vanessa C
+AU - Wheeler VC
+AUID- ORCID: 0009-0004-8259-5796
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260610
+PL - United States
+TA - bioRxiv
+JT - bioRxiv : the preprint server for biology
+JID - 101680187
+PMC - PMC13277899
+EDAT- 2026/06/22 13:42
+MHDA- 2026/06/22 13:43
+PMCR- 2026/06/18
+CRDT- 2026/06/22 07:10
+PHST- 2026/06/22 13:43 [medline]
+PHST- 2026/06/22 13:42 [pubmed]
+PHST- 2026/06/22 07:10 [entrez]
+PHST- 2026/06/18 00:00 [pmc-release]
+AID - 2026.06.08.730940 [pii]
+AID - 10.64898/2026.06.08.730940 [doi]
+PST - epublish
+SO - bioRxiv [Preprint]. 2026 Jun 10:2026.06.08.730940. doi:
+ 10.64898/2026.06.08.730940.
+
+PMID- 42317610
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260619
+LR - 20260619
+IS - 2976-856X (Electronic)
+IS - 2976-856X (Linking)
+VI - 3
+IP - 2
+DP - 2026 Apr
+TI - Genetic or pharmacological disruption of the MSH3 Y245/K246 IDL binding pocket
+ slows CAG repeat expansion.
+PG - ugag031
+LID - 10.1093/narmme/ugag031 [doi]
+LID - ugag031
+AB - Recent genetic studies have shown somatic expansion of the CAG repeat is the key
+ process driving Huntington's disease (HD) pathogenesis. Recognition of
+ insertion-deletion loops (IDLs), lesions prone to form within the CAG repeat, by
+ Mutsbeta (MSH3/MSH2) is thought to be the primary event in the expansion process.
+ This starts a cascade that leads to error-prone repair and incorporation of
+ additional CAG units into the repeat. In vitro data shows MSH3 binds IDLs through
+ a DNA-binding pocket formed by MSH3 residues Y245/K246. In this study, we
+ investigated the significance of this DNA-binding motif in CAG repeat expansion
+ using cell lines harbouring long, unstable HTT CAG repeats. Genetic disruption of
+ the MSH3 Y245/K246 motif significantly reduced DNA interaction, exhibited MMR
+ deficiency in a frameshift mutator assay, and abrogated repeat expansion in a
+ U2OS cell line expressing mutant HTT exon 1. Pharmacological blockade of this
+ site using a small molecule targeting the DNA-binding pocket similarly reduced
+ DNA binding and repeat expansion in a U2OS cell line. Crucially, this molecule
+ also slowed CAG repeat expansion in medium spiny neurones derived from HD
+ patient-iPSCs. Targeting of the MSH3 IDL binding pocket may represent a possible
+ therapeutic strategy.
+CI - (c) The Author(s) 2026. Published by Oxford University Press.
+FAU - Goold, Rob
+AU - Goold R
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Donaldson, Jasmine
+AU - Donaldson J
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Gidney, Florence
+AU - Gidney F
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Goff, Philip
+AU - Goff P
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Hamilton, Joseph
+AU - Hamilton J
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Elmasri, Marwa
+AU - Elmasri M
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Coupland, Lucy
+AU - Coupland L
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Flower, Michael
+AU - Flower M
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+FAU - Tabrizi, Sarah J
+AU - Tabrizi SJ
+AUID- ORCID: 0000-0003-2716-2045
+AD - Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen
+ Square Institute of Neurology, University College London, London WC1N 3BG, United
+ Kingdom.
+AD - Dementia Research Institute at UCL, London WC1N 3BG, United Kingdom.
+LA - eng
+PT - Journal Article
+DEP - 20260605
+PL - England
+TA - NAR Mol Med
+JT - NAR molecular medicine
+JID - 9918752080106676
+PMC - PMC13273312
+COIS- None declared.
+EDAT- 2026/06/19 06:33
+MHDA- 2026/06/19 06:34
+PMCR- 2026/06/05
+CRDT- 2026/06/19 04:50
+PHST- 2026/02/25 00:00 [received]
+PHST- 2026/05/05 00:00 [revised]
+PHST- 2026/05/20 00:00 [accepted]
+PHST- 2026/06/19 06:34 [medline]
+PHST- 2026/06/19 06:33 [pubmed]
+PHST- 2026/06/19 04:50 [entrez]
+PHST- 2026/06/05 00:00 [pmc-release]
+AID - ugag031 [pii]
+AID - 10.1093/narmme/ugag031 [doi]
+PST - epublish
+SO - NAR Mol Med. 2026 Jun 5;3(2):ugag031. doi: 10.1093/narmme/ugag031. eCollection
+ 2026 Apr.
+
+PMID- 42308683
+OWN - NLM
+STAT- Publisher
+LR - 20260617
+IS - 1532-2130 (Electronic)
+IS - 1090-3798 (Linking)
+VI - 62
+DP - 2026 Jun 16
+TI - The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort:
+ Clinical spectrum, molecular diagnostics, and therapeutic implications.
+PG - 51-60
+LID - S1090-3798(26)00053-X [pii]
+LID - 10.1016/j.ejpn.2026.06.003 [doi]
+AB - BACKGROUND: Childhood-onset dystonia (COD) encompasses a clinically and
+ etiologically heterogeneous group of disorders, often with overlapping features.
+ Genetic testing plays a pivotal role in uncovering underlying causes, identifying
+ treatable subtypes, and informing individualized management strategies.
+ OBJECTIVE: To delineate the molecular genetic etiology, phenotypic
+ characteristics, and treatment strategies in a multicenter cohort with
+ gene-related CODs. METHODS: The study cohort comprised 81 patients with
+ gene-related COD from 19 tertiary pediatric neurology centers in Turkiye.
+ Clinical phenomenology, biochemical, electrophysiological, neuroimaging findings,
+ diagnostic genetic tests, causative genes and variants, inheritance patterns,
+ gene-related phenotypes, treatment modalities, and their efficacy were gathered.
+ RESULTS: A diverse genetic landscape was identified in the cohort of 81 patients,
+ revealing 62 distinct (pathogenic/likely pathogenic) variants across 26 genes.
+ The genetic diagnoses were established through whole-exome sequencing (49.4%),
+ single-gene testing (25.9%), and targeted gene panels (23.5%). Of the 81
+ patients, 59 had single-nucleotide variants (SNVs), 21 had deletions or
+ duplications, and one patient carried a pathogenic trinucleotide repeat
+ expansion. The common etiologies of gene-related COD were KMT2B (16%), GCH1
+ (11.1%), SLC2A1 (11.1%), GNAO1 (8.6%), TOR1A (8.6%), GNAL (6.2%). Rare etiologies
+ were SLC18A2 and TH (each 4.9%), ATP1A3, NKX2-1, PRKN, SCN4A, THAP1 (each 2.5%),
+ and ultra-rare etiologies (single patients) were: ACY5, ADPRS, ANO3, COL6A3,
+ DNM1L, GNB1, HTT, PRKRA, PRRT2, RHOBTB2, SETX, SLC6A3, TUBB4A (1.2%). Based on
+ Gene Ontology classification, the most represented functional categories were
+ neurotransmission (n = 18, 22.2%), gene expression (n = 17, 20.9%), and signaling
+ (n = 14, 17.3%). Genetic diagnosis influenced treatment modalities with
+ pharmacotherapy modification or implementation of deep brain stimulation in 60.5%
+ of the cohort, with targeted therapies being more effective than symptomatic
+ treatments (p = 0.0118). CONCLUSION: This nationwide study highlights the
+ phenotypic and genetic diversity of gene-related COD with certain therapeutic
+ implications based on the molecular etiology-specific diagnosis.
+CI - Copyright (c) 2026. Published by Elsevier Ltd.
+FAU - Yilmaz, Sanem
+AU - Yilmaz S
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Serdaroglu, Esra
+AU - Serdaroglu E
+AD - Gazi University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Ankara, Turkiye.
+FAU - Simsek, Erdem
+AU - Simsek E
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye. Electronic address: simsek.erdem@yahoo.com.
+FAU - Kara, Bulent
+AU - Kara B
+AD - Kocaeli University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kocaeli, Turkiye.
+FAU - Turkdogan, Dilsad
+AU - Turkdogan D
+AD - Marmara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology and Private Practice, Istanbul, Turkiye.
+FAU - Yis, Uluc
+AU - Yis U
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Erol, Ilknur
+AU - Erol I
+AD - Adana Baskent University Hospital, Department of Pediatrics, Division of Child
+ Neurology, Adana, Turkiye.
+FAU - Yuksel, Deniz
+AU - Yuksel D
+AD - Etlik City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Kanmaz, Seda
+AU - Kanmaz S
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Eroglu, Arzu
+AU - Eroglu A
+AD - Ataturk City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Balikesir, Turkiye.
+FAU - Canpolat, Mehmet
+AU - Canpolat M
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Komur, Mustafa
+AU - Komur M
+AD - Mersin University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Mersin, Turkiye.
+FAU - Citak Kurt, Nese
+AU - Citak Kurt N
+AD - Ankara City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Sakarya Gunes, Ayfer
+AU - Sakarya Gunes A
+AD - Kocaeli University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kocaeli, Turkiye.
+FAU - Soydemir, Didem
+AU - Soydemir D
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Besen, Seyda
+AU - Besen S
+AD - Adana Baskent University Hospital, Department of Pediatrics, Division of Child
+ Neurology, Adana, Turkiye.
+FAU - Bektas, Omer
+AU - Bektas O
+AD - Ankara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Kirik, Serkan
+AU - Kirik S
+AD - Firat University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Elazig, Turkiye.
+FAU - Atalay Celik, Hale
+AU - Atalay Celik H
+AD - Etlik City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Ardicli, Didem
+AU - Ardicli D
+AD - Ankara City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Aksoy, Ayse
+AU - Aksoy A
+AD - Ondokuz Mayis University Faculty of Medicine, Department of Pediatrics, Division
+ of Child Neurology, Samsun, Turkiye.
+FAU - Yarar, Coskun
+AU - Yarar C
+AD - Eskisehir Osmangazi University, Faculty of Medicine, Department of Pediatrics,
+ Division of Child Neurology, Eskisehir, Turkiye.
+FAU - Cerci Kubur, Cisil
+AU - Cerci Kubur C
+AD - Celal Bayar University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Manisa, Turkiye.
+FAU - Olgac Dundar, Nihal
+AU - Olgac Dundar N
+AD - Katip Celebi University Faculty of Medicine, Department of Pediatrics, Division
+ of Child Neurology, Izmir, Turkiye.
+FAU - Gungor, Olcay
+AU - Gungor O
+AD - Pamukkale University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Denizli, Turkiye.
+FAU - Kamasak, Tulay
+AU - Kamasak T
+AD - Karadeniz University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Trabzon, Turkiye.
+FAU - Olculu, Cemile Busra
+AU - Olculu CB
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Gumus, Hakan
+AU - Gumus H
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Yildirim, Mirac
+AU - Yildirim M
+AD - Ankara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Isik, Esra
+AU - Isik E
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Atik, Tahir
+AU - Atik T
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Cogulu, Ozgur
+AU - Cogulu O
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AD - Suna and Inan Kirac Foundation, Neurodegeneration Research Laboratory (NDAL),
+ Research Center for Translational Medicine (KUTTAM), School of Medicine, Koc
+ University, Istanbul, Turkiye.
+FAU - Sunnetci Akkoyunlu, Deniz
+AU - Sunnetci Akkoyunlu D
+AD - Kocaeli University Faculty of Medicine, Department of Medical Genetics, Kocaeli,
+ Turkiye.
+FAU - Ozbakir, Derya Hazal
+AU - Ozbakir DH
+AD - Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical
+ Genetics, Eskisehir, Turkiye.
+FAU - Kayhan, Gulsum
+AU - Kayhan G
+AD - Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara,
+ Turkiye.
+FAU - Gerik Celebi, Hamide Betul
+AU - Gerik Celebi HB
+AD - Ataturk City Hospital, Department of Medical Genetics, Balikesir, Turkiye.
+FAU - Karaer, Kadri
+AU - Karaer K
+AD - Pamukkale University Faculty of Medicine, Department of Medical Genetics,
+ Denizli, Turkiye.
+FAU - Dundar, Munis
+AU - Dundar M
+AD - Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri,
+ Turkiye.
+FAU - Kaiyrzhanov, Rauan
+AU - Kaiyrzhanov R
+AD - University College London, Department of Neuromuscular Diseases, London, England,
+ UK.
+FAU - Ceylaner, Serdar
+AU - Ceylaner S
+AD - Intergen Genetics and Rare Diseases Diagnosis Research & Application Center,
+ Ankara, Turkiye.
+FAU - Per, Huseyin
+AU - Per H
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Hiz, Ayse Semra
+AU - Hiz AS
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Cansu, Ali
+AU - Cansu A
+AD - Karadeniz University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Trabzon, Turkiye.
+FAU - Okuyaz, Cetin
+AU - Okuyaz C
+AD - Mersin University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Mersin, Turkiye.
+FAU - Anlar, Banu
+AU - Anlar B
+AD - Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Tekgul, Hasan
+AU - Tekgul H
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+LA - eng
+PT - Journal Article
+DEP - 20260616
+PL - England
+TA - Eur J Paediatr Neurol
+JT - European journal of paediatric neurology : EJPN : official journal of the
+ European Paediatric Neurology Society
+JID - 9715169
+SB - IM
+OTO - NOTNLM
+OT - Childhood
+OT - Dystonia
+OT - Genetic
+OT - Hyperkinetic
+OT - Movement disorder
+COIS- Declaration of interests The authors declare that they have no known competing
+ financial interests or personal relationships that could have appeared to
+ influence the work reported in this paper.
+EDAT- 2026/06/18 00:32
+MHDA- 2026/06/18 00:32
+CRDT- 2026/06/17 18:04
+PHST- 2025/06/30 00:00 [received]
+PHST- 2026/03/05 00:00 [revised]
+PHST- 2026/06/16 00:00 [accepted]
+PHST- 2026/06/18 00:32 [medline]
+PHST- 2026/06/18 00:32 [pubmed]
+PHST- 2026/06/17 18:04 [entrez]
+AID - S1090-3798(26)00053-X [pii]
+AID - 10.1016/j.ejpn.2026.06.003 [doi]
+PST - aheadofprint
+SO - Eur J Paediatr Neurol. 2026 Jun 16;62:51-60. doi: 10.1016/j.ejpn.2026.06.003.
+
+PMID- 42238417
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260622
+LR - 20260622
+DP - 2026 May 18
+TI - Defective B cell tolerance in SLE lymph nodes underpins VH(4-34) "clonal
+ damnation" and PD-1(+)TOX(+) autoreactive B cells expansion.
+LID - 2026.05.18.26353148 [pii]
+LID - 10.64898/2026.05.18.26353148 [doi]
+AB - Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease driven by
+ uncensored B and T cell autoreactivity. Understanding this pathogenic process has
+ been hampered by lack of studies of secondary lymphoid organs in human SLE. Using
+ minimally invasive lymph node fine needle aspirates (LN-FNAs), we profiled
+ tissue-resident immune cells from 59 SLE patients and 34 healthy controls through
+ high-dimensional 43-color flow cytometry, antigen-specific tetramer probing, and
+ sc-RNA sequencing with paired VH/VL repertoire analysis. Our findings reveal
+ hyperactive lymph node immunity in SLE characterized by spontaneous germinal
+ center (GC) activation, plasma cell accumulation enriched in mature CD19(-) and
+ CD138(+) antibody-secreting cells, and increased frequencies of both GC-T(FH) and
+ PD-1(+)CXCR5(-) T extra-follicular helper cells. SLE lymph nodes harbored large
+ oligoclonal B cell families with altered isotype usage, dominated by IgG1 and
+ IgG4. Critically, self-reactive 9G4(+) and Ro60(+) B cells showed defective
+ tolerance checkpoint control, accumulating in activated naive, GC, and plasma
+ cell compartments with distinctive PD-1(+)Tox(+) expression absent in
+ viral-specific responses. Single-cell repertoire analysis revealed VH(4-34)
+ clones in SLE B(GC) and B(PC), that in contrast to HD, had not experienced clonal
+ redemption. Instead, SLE VH(4-34) clones displayed low somatic hypermutation and
+ preserved the AVY hydrophobic patch associated with autoreactivity. Monoclonal
+ antibody testing confirmed that unmutated AVY(+) VH(4-34) clones retained
+ polyreactivity against naive B cells, apoptotic cells, and multiple
+ self-antigens. Together, these results define "clonal damnation" as a key
+ mechanism in SLE whereby autoreactive VH(4-34) clones of pathogenic potential
+ escape tolerance checkpoints, expand in germinal centers, and differentiate into
+ tissue plasma cells while preserving germline-encoded self-reactivity. Combined,
+ our study defines critical mechanisms of tolerance breakdown in lupus
+ pathogenesis.
+FAU - Faliti, Caterina E
+AU - Faliti CE
+AUID- ORCID: 0000-0003-0487-1914
+AD - Department of Medicine, Division of Rheumatology, Lowance Center for Human
+ Immunology, Emory University, Atlanta, GA, USA.
+AD - Emory Autoimmunity Center of Excellence, Emory University, Atlanta, GA, USA.
+FAU - Ghimire, Midushi
+AU - Ghimire M
+AD - Department of Medicine, Division of Rheumatology, Lowance Center for Human
+ Immunology, Emory University, Atlanta, GA, USA.
+AD - Emory Autoimmunity Center of Excellence, Emory University, Atlanta, GA, USA.
+FAU - Garcia-Vega, Melissa
+AU - Garcia-Vega M
+AUID- ORCID: 0000-0001-5902-4603
+AD - Department of Medicine, Division of Rheumatology, Lowance Center for Human
+ Immunology, Emory University, Atlanta, GA, USA.
+AD - Emory Autoimmunity Center of Excellence, Emory University, Atlanta, GA, USA.
+FAU - Watermeier, Rachel C
+AU - Watermeier RC
+AD - Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, Department of
+ Medicine, Emory University, Atlanta, GA, USA.
+FAU - Callahan, Amanda
+AU - Callahan A
+AD - Department of Microbiology, University of Alabama at Birmingham Heersink School
+ of Medicine, Birmingham, AL 35294, USA.
+FAU - Burke, Julia
+AU - Burke J
+AD - Department of Microbiology, University of Alabama at Birmingham Heersink School
+ of Medicine, Birmingham, AL 35294, USA.
+FAU - Posadas, Olivia
+AU - Posadas O
+AD - Division of Viral Products, Center for Biologics Evaluation and Research (CBER),
+ Food and Drug Administration, Silver Spring, MD, USA.
+FAU - Mishra, Ashish K
+AU - Mishra AK
+AD - Division of Viral Products, Center for Biologics Evaluation and Research (CBER),
+ Food and Drug Administration, Silver Spring, MD, USA.
+FAU - Khurana, Surender
+AU - Khurana S
+AUID- ORCID: 0000-0002-0593-7965
+AD - Division of Viral Products, Center for Biologics Evaluation and Research (CBER),
+ Food and Drug Administration, Silver Spring, MD, USA.
+FAU - Greiff, Victor
+AU - Greiff V
+AUID- ORCID: 0000-0003-2622-5032
+AD - Department of Immunology, University of Oslo, Oslo University Hospital, Oslo,
+ Norway.
+FAU - Scharer, Chris D
+AU - Scharer CD
+AUID- ORCID: 0000-0001-7716-8504
+AD - Department of Microbiology and Immunology, Emory University School of Medicine,
+ Atlanta, GA, USA.
+FAU - Lindner, John M
+AU - Lindner JM
+AUID- ORCID: 0000-0002-4940-5354
+AD - BioMed X Institute, Heidelberg, Germany.
+FAU - King, R Glenn
+AU - King RG
+AUID- ORCID: 0000-0001-6522-0053
+AD - Department of Microbiology, University of Alabama at Birmingham Heersink School
+ of Medicine, Birmingham, AL 35294, USA.
+FAU - Newell, Mary
+AU - Newell M
+AUID- ORCID: 0000-0001-5521-2260
+AD - Department of Radiology and Imaging Sciences, Emory University, Atlanta, GA, USA.
+FAU - Khosroshahi, Arezou
+AU - Khosroshahi A
+AUID- ORCID: 0000-0001-8365-8497
+AD - Department of Medicine, Division of Rheumatology, Lowance Center for Human
+ Immunology, Emory University, Atlanta, GA, USA.
+AD - Emory Autoimmunity Center of Excellence, Emory University, Atlanta, GA, USA.
+FAU - Lee, F Eun-Hyung
+AU - Lee FE
+AUID- ORCID: 0000-0002-6133-5942
+AD - Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, Department of
+ Medicine, Emory University, Atlanta, GA, USA.
+FAU - Sanz, Inaki
+AU - Sanz I
+AUID- ORCID: 0000-0003-4182-587X
+AD - Department of Medicine, Division of Rheumatology, Lowance Center for Human
+ Immunology, Emory University, Atlanta, GA, USA.
+AD - Emory Autoimmunity Center of Excellence, Emory University, Atlanta, GA, USA.
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260518
+PL - United States
+TA - medRxiv
+JT - medRxiv : the preprint server for health sciences
+JID - 101767986
+PMC - PMC13228782
+COIS- I.S. is a consultant for Kyverna Therapeutics SAB, Merck, Novartis, GSK, and
+ Otsuka. F.E.-H.L. is the founder of MicroB-plex, Inc., and has research grants
+ with Genentech. The other authors declare no competing interests.
+EDAT- 2026/06/04 06:34
+MHDA- 2026/06/04 06:35
+PMCR- 2026/06/02
+CRDT- 2026/06/04 05:28
+PHST- 2026/06/04 06:34 [pubmed]
+PHST- 2026/06/04 06:35 [medline]
+PHST- 2026/06/04 05:28 [entrez]
+PHST- 2026/06/02 00:00 [pmc-release]
+AID - 2026.05.18.26353148 [pii]
+AID - 10.64898/2026.05.18.26353148 [doi]
+PST - epublish
+SO - medRxiv [Preprint]. 2026 May 18:2026.05.18.26353148. doi:
+ 10.64898/2026.05.18.26353148.
+
+PMID- 42231151
+OWN - NLM
+STAT- Publisher
+LR - 20260603
+IS - 1689-1392 (Electronic)
+IS - 1425-8153 (Linking)
+DP - 2026 Jun 2
+TI - Phosphoproteomic profiling reveals post-translational dysregulation in
+ Huntington's disease patient-derived neurons.
+LID - 10.1186/s11658-026-00948-2 [doi]
+AB - Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a CAG
+ repeat expansion in the Huntingtin gene. Although transcriptomic and proteomic
+ changes have been characterized in patient-derived neurons, the contribution of
+ post-translational modifications, such as phosphorylation, remains poorly
+ understood. Here, we present the first phosphoproteomic analysis by mass
+ spectrometry (P-MS) of human induced neurons (iNs) directly reprogrammed from HD
+ patient fibroblasts. We identified 177 phosphopeptides with significantly altered
+ abundance in HD-iNs, mapping to phosphoproteins associated with key signaling
+ pathways known to be affected in HD, such as splicing and autophagy. By
+ integrating P-MS data with previously published proteomic and transcriptomic data
+ from the same donors, we identified distinct subsets of ON-OFF phosphopeptides
+ that exhibited a complete loss of phosphorylation in either HD- or control-iNs,
+ without corresponding changes at the RNA or protein level. An exception was
+ MXRA8, previously described in glial cells as a mediator of blood-brain barrier
+ integrity and astrocyte-mediated neuroinflammation. This protein showed increased
+ protein abundance despite the absence of phosphorylation in HD-iNs, suggesting a
+ compensatory mechanism. In addition, MXRA8 showed altered protein-protein
+ interactions with lysosomal and metabolic regulators in HD-iNs, highlighting its
+ potential role in autophagy impairment as well as in neurovascular dysfunction.
+ These findings uncover a distinct layer of post-translational dysregulation in
+ HD, suggesting that phospho-switch proteins such as MXRA8 may be candidate
+ effectors of pathology, and thus, site-specific phosphorylation loss may
+ contribute to impaired signaling and proteostasis in human HD neurons.
+CI - (c) 2026. The Author(s).
+FAU - Danics, Lea
+AU - Danics L
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SU Cerebrovascular and Neurocognitive Diseases Research Group, Budapest,
+ Hungary.
+FAU - Muralidharan, Chandramouli
+AU - Muralidharan C
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - Laboratory of Molecular Neurogenetics, Department of Experimental Medical
+ Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund
+ University, Lund, Sweden.
+FAU - Varga, Agnes
+AU - Varga A
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary.
+FAU - Rezeli, Melinda
+AU - Rezeli M
+AD - Division for Biomedical Engineering, Department of Biomedical Engineering, Lund
+ University, Lund, Sweden.
+AD - BioMS-Swedish National Infrastructure for Biological Mass Spectrometry, Lund
+ University, Lund, Sweden.
+FAU - Gil, Jeovanis
+AU - Gil J
+AD - Clinical Chemistry, Department of Translational Medicine, Lund University, Lund,
+ Sweden.
+FAU - Abbas, Anna A
+AU - Abbas AA
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Pap, Adam
+AU - Pap A
+AD - Single Cell Omics Advanced Core Facility, Hungarian Centre of Excellence for
+ Molecular Medicine, Szeged, Hungary.
+AD - Laboratory of Proteomics, Complex Molecular and Cell Biology Service Centre,
+ HUN-REN Biological Research Centre, Szeged, Hungary.
+FAU - Park, Andrew S
+AU - Park AS
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Cserhalmi, Marcell
+AU - Cserhalmi M
+AD - MTA-HUN-REN RCNS Lendulet "Momentum" DNA Repair Research Group, Institute of
+ Molecular Life Sciences, HUN-REN Research Centre for Natural Sciences, Budapest,
+ Hungary.
+FAU - Legault, Emilie M
+AU - Legault EM
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Soth, Armin
+AU - Soth A
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Jamniczky, Dorina
+AU - Jamniczky D
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Zsoldos, Roland
+AU - Zsoldos R
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary.
+FAU - Barker, Roger A
+AU - Barker RA
+AD - Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair,
+ Department of Clinical Neurosciences, University of Cambridge, Forvie Site,
+ Cambridge, UK.
+FAU - Rona, Gergely
+AU - Rona G
+AD - MTA-HUN-REN RCNS Lendulet "Momentum" DNA Repair Research Group, Institute of
+ Molecular Life Sciences, HUN-REN Research Centre for Natural Sciences, Budapest,
+ Hungary.
+AD - Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of
+ Medicine, New York, NY, USA.
+FAU - Drouin-Ouellet, Janelle
+AU - Drouin-Ouellet J
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Marko-Varga, Gyorgy
+AU - Marko-Varga G
+AD - BioMS-Swedish National Infrastructure for Biological Mass Spectrometry, Lund
+ University, Lund, Sweden.
+FAU - Darula, Zsuzsanna
+AU - Darula Z
+AD - Single Cell Omics Advanced Core Facility, Hungarian Centre of Excellence for
+ Molecular Medicine, Szeged, Hungary.
+AD - Laboratory of Proteomics, Complex Molecular and Cell Biology Service Centre,
+ HUN-REN Biological Research Centre, Szeged, Hungary.
+FAU - Pircs, Karolina
+AU - Pircs K
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+ pircs.karolina@semmelweis.hu.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary. pircs.karolina@semmelweis.hu.
+AD - Laboratory of Molecular Neurogenetics, Department of Experimental Medical
+ Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund
+ University, Lund, Sweden. pircs.karolina@semmelweis.hu.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary. pircs.karolina@semmelweis.hu.
+LA - eng
+PT - Journal Article
+DEP - 20260602
+PL - England
+TA - Cell Mol Biol Lett
+JT - Cellular & molecular biology letters
+JID - 9607427
+SB - IM
+OTO - NOTNLM
+OT - Autophagy
+OT - Huntington's disease
+OT - Induced neurons
+OT - MXRA8
+OT - Phosphorylation
+OT - Post-translational modification
+COIS- Declarations. Ethics approval and consent to participate: This study was
+ conducted in accordance with the Declaration of Helsinki and all relevant
+ institutional guidelines and regulations. Written informed consent was obtained
+ from all human participants prior to the collection of fibroblast samples. Human
+ dermal fibroblasts were obtained from the Huntington's Disease Clinic at the John
+ van Geest Centre for Brain Repair (Cambridge, UK) and the Fondazione IRCCS
+ Istituto Neurologico Carlo Besta (Milan, Italy) under the following ethical
+ approvals: NHS Research Ethics Committee, United Kingdom (REC 09/H0311/88) and
+ Semmelweis University Regional and Institutional Committee of Science and
+ Research Ethics, Hungary (IV-2625-1/2021/EKU and IV-1029-1/2022/EKU). Experiments
+ involving human fibroblast samples were carried out under the approval
+ IV-2625-1/2021/EKU (Semmelweis University Regional and Institutional Committee of
+ Science and Research Ethics, Hungary). Experiments involving human post mortem
+ brain tissue were performed under approval CERC-2025-7229 from the University of
+ Montreal Research Ethics Committee. This study does not involve a clinical trial;
+ therefore: clinical trial registration numbers are not applicable. Human ethics
+ and consent to participate declarations: All required declarations are provided
+ above. Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/03 06:35
+MHDA- 2026/06/03 06:35
+CRDT- 2026/06/03 00:53
+PHST- 2025/12/09 00:00 [received]
+PHST- 2026/04/27 00:00 [accepted]
+PHST- 2026/06/03 06:35 [medline]
+PHST- 2026/06/03 06:35 [pubmed]
+PHST- 2026/06/03 00:53 [entrez]
+AID - 10.1186/s11658-026-00948-2 [pii]
+AID - 10.1186/s11658-026-00948-2 [doi]
+PST - aheadofprint
+SO - Cell Mol Biol Lett. 2026 Jun 2. doi: 10.1186/s11658-026-00948-2.
+
PMID- 42210302
OWN - NLM
STAT- Publisher
-LR - 20260529
+LR - 20260602
IS - 1750-1326 (Electronic)
IS - 1750-1326 (Linking)
DP - 2026 May 28
@@ -87,6 +1211,8 @@ TA - Mol Neurodegener
JT - Molecular neurodegeneration
JID - 101266600
SB - IM
+UOF - bioRxiv. 2026 Jan 08:2026.01.07.698249. doi: 10.64898/2026.01.07.698249. PMID:
+ 41542456
OTO - NOTNLM
OT - CAG repeat expansion
OT - Huntington's disease
@@ -196,8 +1322,8 @@ SO - J Huntingtons Dis. 2026 May 27:18796397261443135. doi: 10.1177/18796397261
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -351,8 +1477,8 @@ SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
PMID- 42185880
OWN - NLM
STAT- MEDLINE
-DCOM- 20260526
-LR - 20260528
+DCOM- 20260624
+LR - 20260624
IS - 1868-7083 (Electronic)
IS - 1868-7075 (Print)
IS - 1868-7075 (Linking)
@@ -441,24 +1567,20 @@ PL - Germany
TA - Clin Epigenetics
JT - Clinical epigenetics
JID - 101516977
-RN - 0 (Huntingtin Protein)
SB - IM
MH - Humans
MH - *Huntington Disease/genetics
MH - *DNA Methylation/genetics
+MH - Female
MH - Male
+MH - Cerebellum
+MH - *Corpus Striatum/metabolism
+MH - CpG Islands
MH - Middle Aged
-MH - Female
+MH - Entorhinal Cortex
MH - Adult
-MH - CpG Islands
-MH - *Corpus Striatum/metabolism
-MH - Aged
-MH - Huntingtin Protein/genetics
-MH - Entorhinal Cortex/metabolism
-MH - Case-Control Studies
-MH - Trinucleotide Repeat Expansion
MH - Epigenesis, Genetic
-MH - Cerebellum/metabolism
+MH - Trinucleotide Repeat Expansion
PMC - PMC13202909
OTO - NOTNLM
OT - Brain
@@ -493,9 +1615,8 @@ SO - Clin Epigenetics. 2026 May 26;18(1):92. doi: 10.1186/s13148-026-02082-4.
PMID- 42183198
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260525
-LR - 20260525
+STAT- In-Process
+LR - 20260623
IS - 1664-3224 (Electronic)
IS - 1664-3224 (Linking)
VI - 17
@@ -876,17 +1997,18 @@ SO - CNS Neurol Disord Drug Targets. 2026 May 11. doi:
PMID- 42109206
OWN - NLM
STAT- MEDLINE
-DCOM- 20260511
-LR - 20260515
+DCOM- 20260623
+LR - 20260625
IS - 1754-8411 (Electronic)
+IS - 1754-8403 (Print)
IS - 1754-8403 (Linking)
VI - 19
IP - 6
DP - 2026 Jun 1
TI - Induced pluripotent stem cells from a transgenic minipig model of Huntington's
disease reveal early metabolic changes.
-LID - dmm052585 [pii]
LID - 10.1242/dmm.052585 [doi]
+LID - dmm052585
AB - Huntington's disease (HD) is a neurodegenerative autosomal dominant hereditary
disease caused by a CAG triplet repeat expansion mutation in the gene encoding
the huntingtin (HTT) protein. The main feature of HD is the loss of striatal
@@ -984,26 +2106,28 @@ GR - Ustav zivocisne fyziologie a genetiky AV CR/
GR - JPND2023-1822-096/EU Joint Programme - Neurodegenerative Disease Research/
GR - 739510/European Reference Network for Rare Neurological Diseases/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260511
PL - England
TA - Dis Model Mech
JT - Disease models & mechanisms
JID - 101483332
RN - 0 (Huntingtin Protein)
-RN - 0 (Antioxidants)
SB - IM
MH - Animals
MH - *Huntington Disease/metabolism/pathology/genetics
MH - *Induced Pluripotent Stem Cells/metabolism/pathology
-MH - Disease Models, Animal
MH - Swine, Miniature
-MH - Swine
+MH - Disease Models, Animal
MH - Animals, Genetically Modified
-MH - Humans
-MH - Huntingtin Protein
-MH - DNA Damage
MH - Gene Expression Regulation
-MH - Antioxidants/metabolism
+MH - Swine
+MH - DNA Damage
+MH - Huntingtin Protein/metabolism
+MH - Cell Differentiation
+MH - Humans
+MH - Mitochondria/metabolism
+PMC - PMC13225199
OTO - NOTNLM
OT - DNA damage
OT - Gene expression
@@ -1014,13 +2138,16 @@ OT - Transgenic minipig model
COIS- Competing interests The authors declare no competing or financial interests.
EDAT- 2026/05/11 06:31
MHDA- 2026/05/11 12:59
+PMCR- 2026/05/11
CRDT- 2026/05/11 05:52
PHST- 2025/07/28 00:00 [received]
PHST- 2026/02/02 00:00 [accepted]
PHST- 2026/05/11 12:59 [medline]
PHST- 2026/05/11 06:31 [pubmed]
PHST- 2026/05/11 05:52 [entrez]
+PHST- 2026/05/11 00:00 [pmc-release]
AID - 371653 [pii]
+AID - dmm052585 [pii]
AID - 10.1242/dmm.052585 [doi]
PST - ppublish
SO - Dis Model Mech. 2026 Jun 1;19(6):dmm052585. doi: 10.1242/dmm.052585. Epub 2026
@@ -1282,14 +2409,18 @@ SO - bioRxiv [Preprint]. 2026 Mar 10:2026.03.08.708251. doi:
PMID- 41957010
OWN - NLM
-STAT- Publisher
-LR - 20260409
+STAT- PubMed-not-MEDLINE
+DCOM- 20260607
+LR - 20260607
IS - 2056-7944 (Electronic)
IS - 2056-7944 (Linking)
+VI - 11
+IP - 1
DP - 2026 Apr 9
TI - Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale
study of rare variants and repeat expansions.
LID - 10.1038/s41525-026-00567-y [doi]
+LID - 33
AB - Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes.
In clinical practice, however, non-genetic causes are rare. The most common
genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease
@@ -1422,18 +2553,6 @@ AD - Unit of Neurodegenerative Diseases, Department of Neurology, University Ho
Germans Trias i Pujol Badalona, Barcelona, Spain. pastorpau@gmail.com.
CN - Spanish Study Group for Genetics of Chorea members
LA - eng
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
Services/
PT - Journal Article
@@ -1442,22 +2561,26 @@ PL - England
TA - NPJ Genom Med
JT - NPJ genomic medicine
JID - 101685193
+PMC - PMC13243629
COIS- Competing interests: The authors declare no competing interests by P.P. received
honoraria from Lilly. The remaining authors declare no competing interests.
FIR - Pastor, Pau
IR - Pastor P
EDAT- 2026/04/10 00:33
-MHDA- 2026/04/10 00:33
+MHDA- 2026/04/10 00:34
+PMCR- 2026/04/09
CRDT- 2026/04/09 23:16
PHST- 2025/07/01 00:00 [received]
PHST- 2026/03/19 00:00 [accepted]
-PHST- 2026/04/10 00:33 [medline]
+PHST- 2026/04/10 00:34 [medline]
PHST- 2026/04/10 00:33 [pubmed]
PHST- 2026/04/09 23:16 [entrez]
+PHST- 2026/04/09 00:00 [pmc-release]
AID - 10.1038/s41525-026-00567-y [pii]
+AID - 567 [pii]
AID - 10.1038/s41525-026-00567-y [doi]
-PST - aheadofprint
-SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
+PST - epublish
+SO - NPJ Genom Med. 2026 Apr 9;11(1):33. doi: 10.1038/s41525-026-00567-y.
PMID- 41951733
OWN - NLM
@@ -2176,7 +3299,7 @@ PMID- 41926793
OWN - NLM
STAT- MEDLINE
DCOM- 20260420
-LR - 20260531
+LR - 20260621
IS - 1090-2104 (Electronic)
IS - 0006-291X (Linking)
VI - 816
@@ -2260,7 +3383,6 @@ AD - Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, Gd
LA - eng
SI - BioProject/PRJNA1345724
PT - Journal Article
-PT - Research Support, Non-U.S. Gov't
DEP - 20260401
PL - United States
TA - Biochem Biophys Res Commun
@@ -2268,18 +3390,22 @@ JT - Biochemical and biophysical research communications
JID - 0372516
RN - 0 (Huntingtin Protein)
RN - 0 (HTT protein, human)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Htt protein, mouse)
SB - IM
-MH - *Huntington Disease/genetics/pathology
-MH - Animals
+MH - *Huntington Disease/genetics
MH - Humans
-MH - *Huntingtin Protein/genetics/chemistry
-MH - *Exons/genetics
+MH - Animals
+MH - Huntingtin Protein/genetics
+MH - Exons/genetics
+MH - Mice
MH - Disease Models, Animal
+MH - *Nerve Tissue Proteins/genetics
MH - HEK293 Cells
-MH - Mice
-MH - *Transcriptome
MH - *Trinucleotide Repeat Expansion
-MH - *Trinucleotide Repeats/genetics
+MH - *Transcriptome
+MH - *Trinucleotide Repeats
+MH - Gene Expression Profiling
OTO - NOTNLM
OT - CAG extension
OT - Cellular models
@@ -2305,7 +3431,7 @@ PMID- 41916314
OWN - NLM
STAT- MEDLINE
DCOM- 20260509
-LR - 20260509
+LR - 20260621
IS - 2666-6340 (Electronic)
IS - 2666-6340 (Linking)
VI - 7
@@ -2382,19 +3508,18 @@ RN - 0 (neurofilament protein L)
RN - 0 (Biomarkers)
SB - IM
MH - Humans
-MH - *Huntington Disease/physiopathology/diagnosis/blood
-MH - Male
+MH - *Huntington Disease/blood/physiopathology/diagnosis
MH - Female
-MH - Middle Aged
MH - Cross-Sectional Studies
-MH - Adult
+MH - Male
MH - Disease Progression
+MH - Middle Aged
+MH - Adult
MH - *Neurofilament Proteins/blood
-MH - Prospective Studies
MH - Magnetic Resonance Imaging
MH - Longitudinal Studies
+MH - Prospective Studies
MH - Biomarkers/blood
-MH - *Pyramidal Tracts/pathology/physiopathology
MH - Neurologic Examination
OTO - NOTNLM
OT - Huntington's disease
@@ -2420,8 +3545,8 @@ SO - Med. 2026 May 8;7(5):101071. doi: 10.1016/j.medj.2026.101071. Epub 2026 Ma
PMID- 41906693
OWN - NLM
STAT- MEDLINE
-DCOM- 20260330
-LR - 20260401
+DCOM- 20260621
+LR - 20260621
IS - 1471-4159 (Electronic)
IS - 0022-3042 (Print)
IS - 0022-3042 (Linking)
@@ -2553,33 +3678,31 @@ TA - J Neurochem
JT - Journal of neurochemistry
JID - 2985190R
RN - 0 (NLR Family, Pyrin Domain-Containing 3 Protein)
+RN - 0 (Inflammasomes)
+RN - 0 (Sulfonamides)
+RN - 0 (Furans)
+RN - 0 (Nlrp3 protein, mouse)
RN - 6RS86E2BWQ
(N-(1,2,3,5,6,7-hexahydro-S-indacen-4-ylcarbamoyl)-4-(2-hydroxy-2-propanyl)-2-furansulfonamide)
RN - 0 (Indenes)
-RN - 0 (Inflammasomes)
RN - 0 (Sulfones)
-RN - 0 (Nlrp3 protein, mouse)
-RN - 0 (Sulfonamides)
-RN - 0 (Furans)
-RN - 0 (Cyclopropanes)
+RN - 0 (Heterocyclic Compounds, 4 or More Rings)
SB - IM
MH - Animals
MH - *NLR Family, Pyrin Domain-Containing 3 Protein/antagonists &
inhibitors/metabolism
-MH - *Huntington Disease/drug therapy/metabolism/genetics
+MH - *Huntington Disease/drug therapy/metabolism
MH - Mice
-MH - Indenes/pharmacology
MH - *Inflammasomes/antagonists & inhibitors/metabolism
-MH - *Gastrointestinal Microbiome/drug effects
-MH - *Sulfones/pharmacology
+MH - *Sulfonamides/pharmacology/therapeutic use
+MH - *Furans/pharmacology
+MH - *Gastrointestinal Microbiome/drug effects/physiology
MH - Male
+MH - *Indenes/pharmacology
MH - Mice, Transgenic
-MH - Sulfonamides/pharmacology
-MH - *Furans/pharmacology
-MH - Cyclopropanes
+MH - *Sulfones/pharmacology/therapeutic use
+MH - *Heterocyclic Compounds, 4 or More Rings/pharmacology
MH - Disease Models, Animal
-MH - Mice, Inbred C57BL
-MH - Female
PMC - PMC13033966
OTO - NOTNLM
OT - Huntington's disease
@@ -2801,7 +3924,7 @@ PMID- 41850723
OWN - NLM
STAT- MEDLINE
DCOM- 20260318
-LR - 20260601
+LR - 20260620
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -2877,8 +4000,6 @@ LA - eng
GR - R21 NS109412/NS/NINDS NIH HHS/United States
GR - R01 NS08645208/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
DEP - 20260318
PL - United States
TA - Life Sci Alliance
@@ -2887,22 +4008,22 @@ JID - 101728869
RN - 0 (Huntingtin Protein)
RN - 0 (HTT protein, human)
RN - EC 2.7.11.1 (DNA-Activated Protein Kinase)
-RN - 0 (Nuclear Proteins)
SB - IM
UOF - bioRxiv. 2024 Dec 27:2024.12.27.630542. doi: 10.1101/2024.12.27.630542. PMID:
39763784
MH - *Huntingtin Protein/metabolism/genetics
MH - *DNA Repair/genetics
MH - Humans
-MH - Huntington Disease/genetics/metabolism
+MH - Animals
MH - Phosphorylation
+MH - Huntington Disease/genetics/metabolism
MH - DNA Breaks, Double-Stranded
+MH - *RNA Processing, Post-Transcriptional
MH - Neurons/metabolism
-MH - DNA-Activated Protein Kinase/metabolism
-MH - *RNA Processing, Post-Transcriptional/genetics
-MH - Animals
+MH - Chromatin Assembly and Disassembly
MH - DNA Damage
-MH - Nuclear Proteins/metabolism
+MH - DNA-Activated Protein Kinase/metabolism
+MH - Mice
PMC - PMC13000123
COIS- The authors declare that they have no conflict of interest.
EDAT- 2026/03/19 01:32
@@ -2926,8 +4047,8 @@ SO - Life Sci Alliance. 2026 Mar 18;9(6):e202503424. doi: 10.26508/lsa.20250342
PMID- 41849610
OWN - NLM
STAT- MEDLINE
-DCOM- 20260318
-LR - 20260320
+DCOM- 20260620
+LR - 20260620
IS - 2375-2548 (Electronic)
IS - 2375-2548 (Linking)
VI - 12
@@ -3007,14 +4128,15 @@ SB - IM
MH - Animals
MH - *Huntington Disease/genetics/therapy/pathology
MH - Mice
-MH - *Gene Editing/methods
-MH - *Huntingtin Protein/genetics/metabolism
+MH - *Huntingtin Protein/genetics
MH - *CRISPR-Cas Systems
+MH - *Dependovirus/genetics
MH - Humans
MH - Disease Models, Animal
-MH - *Dependovirus/genetics
-MH - Genetic Therapy/methods
-MH - Genetic Vectors/genetics
+MH - *Gene Editing/methods
+MH - Genetic Therapy
+MH - Chromosomes, Artificial, Bacterial/genetics
+MH - Mice, Transgenic
PMC - PMC12998519
COIS- C.L. and S.Z. are inventors and applicants on the following pending patents:
"Product preparation based on the application of sgRNA for the treatment of
@@ -3039,8 +4161,8 @@ SO - Sci Adv. 2026 Mar 20;12(12):eaea8052. doi: 10.1126/sciadv.aea8052. Epub 20
PMID- 41849583
OWN - NLM
STAT- MEDLINE
-DCOM- 20260318
-LR - 20260318
+DCOM- 20260620
+LR - 20260620
IS - 1946-6242 (Electronic)
IS - 1946-6234 (Linking)
VI - 18
@@ -3180,19 +4302,20 @@ TA - Sci Transl Med
JT - Science translational medicine
JID - 101505086
RN - 0 (Huntingtin Protein)
-RN - 0 (RNA, Messenger)
RN - 0 (RNA, Small Interfering)
RN - 0 (Htt protein, mouse)
+RN - 0 (RNA, Messenger)
SB - IM
MH - Animals
-MH - *Huntington Disease/genetics/therapy
+MH - *Huntington Disease/therapy/genetics
MH - *Huntingtin Protein/genetics/metabolism
MH - Disease Models, Animal
+MH - RNA, Small Interfering/metabolism
+MH - Mice
MH - RNA, Messenger/metabolism/genetics
MH - *Gene Knock-In Techniques
-MH - RNA, Small Interfering/metabolism/genetics
-MH - Mice
MH - Humans
+MH - Transcription, Genetic
EDAT- 2026/03/18 18:36
MHDA- 2026/03/18 18:37
CRDT- 2026/03/18 14:03
@@ -3207,8 +4330,8 @@ SO - Sci Transl Med. 2026 Mar 18;18(841):eadw2495. doi: 10.1126/scitranslmed.ad
PMID- 41841355
OWN - NLM
STAT- MEDLINE
-DCOM- 20260326
-LR - 20260326
+DCOM- 20260620
+LR - 20260620
IS - 1520-4804 (Electronic)
IS - 0022-2623 (Linking)
VI - 69
@@ -3362,8 +4485,8 @@ PL - United States
TA - J Med Chem
JT - Journal of medicinal chemistry
JID - 9716531
-RN - 0 (Huntingtin Protein)
RN - 0 (Pyrazines)
+RN - 0 (Huntingtin Protein)
RN - 0 (HTT protein, human)
SB - IM
MH - *Huntington Disease/drug therapy/genetics
@@ -3371,13 +4494,11 @@ MH - Humans
MH - Animals
MH - *RNA Splicing/drug effects
MH - Mice
-MH - Huntingtin Protein/genetics/metabolism
MH - *Drug Discovery
-MH - *Pyrazines/pharmacology/chemistry/pharmacokinetics/therapeutic use/chemical
- synthesis
+MH - *Pyrazines/pharmacology/chemistry/therapeutic use/chemical
+ synthesis/pharmacokinetics
+MH - Huntingtin Protein/genetics/metabolism
MH - Structure-Activity Relationship
-MH - Disease Models, Animal
-MH - Rats
EDAT- 2026/03/17 14:24
MHDA- 2026/03/26 07:09
CRDT- 2026/03/17 06:03
@@ -3392,8 +4513,8 @@ SO - J Med Chem. 2026 Mar 26;69(6):7427-7442. doi: 10.1021/acs.jmedchem.6c00224
PMID- 41838909
OWN - NLM
STAT- MEDLINE
-DCOM- 20260316
-LR - 20260326
+DCOM- 20260620
+LR - 20260620
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -3537,17 +4658,21 @@ JT - Proceedings of the National Academy of Sciences of the United States of Am
JID - 7505876
RN - 0 (Huntingtin Protein)
RN - 0 (HTT protein, human)
+RN - 0 (HAP40 protein, human)
RN - 0 (Peptides)
+RN - 0 (Macrocyclic Compounds)
+RN - 0 (Nuclear Proteins)
SB - IM
UOF - bioRxiv. 2025 Aug 06:2025.08.06.668955. doi: 10.1101/2025.08.06.668955. PMID:
41030958
MH - *Huntingtin Protein/metabolism/chemistry/genetics
MH - Humans
-MH - Huntington Disease/genetics/metabolism
-MH - Cryoelectron Microscopy
MH - *Peptides/chemistry/metabolism
+MH - Huntington Disease/genetics/metabolism
MH - Protein Binding
+MH - *Macrocyclic Compounds/chemistry
MH - Animals
+MH - Nuclear Proteins
PMC - PMC13012115
OTO - NOTNLM
OT - HAP40
@@ -3572,8 +4697,8 @@ SO - Proc Natl Acad Sci U S A. 2026 Mar 24;123(12):e2520462123. doi:
PMID- 41828602
OWN - NLM
STAT- MEDLINE
-DCOM- 20260314
-LR - 20260316
+DCOM- 20260620
+LR - 20260620
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -3649,23 +4774,23 @@ PL - Switzerland
TA - Int J Mol Sci
JT - International journal of molecular sciences
JID - 101092791
+RN - 0 (Biomarkers)
RN - 0 (Neurofilament Proteins)
RN - 0 (neurofilament protein L)
-RN - 0 (Biomarkers)
SB - IM
-MH - *Huntington Disease/pathology/immunology/cerebrospinal fluid
MH - Humans
-MH - Male
-MH - Female
+MH - *Huntington Disease/pathology/immunology/cerebrospinal fluid/metabolism/genetics
MH - Atrophy/pathology
+MH - Female
+MH - Male
+MH - *Corpus Striatum/pathology/metabolism/immunology
MH - Middle Aged
-MH - *Corpus Striatum/pathology/immunology
-MH - Adult
-MH - Neurofilament Proteins/cerebrospinal fluid
-MH - Aged
-MH - Gray Matter/pathology
MH - Biomarkers/cerebrospinal fluid
+MH - Neurofilament Proteins/cerebrospinal fluid
+MH - Adult
MH - Proteomics/methods
+MH - Aged
+MH - Putamen/pathology
PMC - PMC12985888
OTO - NOTNLM
OT - Huntington's disease
@@ -3697,8 +4822,8 @@ SO - Int J Mol Sci. 2026 Mar 4;27(5):2384. doi: 10.3390/ijms27052384.
PMID- 41786746
OWN - NLM
STAT- MEDLINE
-DCOM- 20260416
-LR - 20260419
+DCOM- 20260612
+LR - 20260612
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -3819,30 +4944,31 @@ PL - England
TA - Nat Commun
JT - Nature communications
JID - 101528555
+RN - EC 3.1.- (FAN1 protein, human)
RN - EC 3.4.19.12 (Ubiquitin-Specific Peptidase 7)
+RN - 0 (Multifunctional Enzymes)
+RN - EC 3.1.- (Exodeoxyribonucleases)
RN - EC 3.4.19.12 (USP7 protein, human)
-RN - EC 3.1.- (FAN1 protein, human)
RN - 0 (Huntingtin Protein)
-RN - EC 3.1.- (Exodeoxyribonucleases)
-RN - 0 (Multifunctional Enzymes)
RN - EC 3.1.- (Endodeoxyribonucleases)
RN - 0 (Chromatin)
RN - 0 (HTT protein, human)
SB - IM
MH - Humans
-MH - *Ubiquitin-Specific Peptidase 7/metabolism/genetics
MH - *DNA Repair
+MH - *Ubiquitin-Specific Peptidase 7/metabolism/genetics
+MH - *Multifunctional Enzymes/metabolism/genetics
+MH - *Exodeoxyribonucleases/metabolism/genetics
MH - *Trinucleotide Repeat Expansion/genetics
MH - Huntingtin Protein/genetics/metabolism
-MH - *Exodeoxyribonucleases/metabolism/genetics
-MH - Multifunctional Enzymes/metabolism
-MH - HEK293 Cells
-MH - Genomic Instability
-MH - Huntington Disease/genetics/metabolism
MH - *Endodeoxyribonucleases/metabolism/genetics
-MH - Ubiquitination
-MH - DNA Damage
+MH - Genomic Instability
+MH - HEK293 Cells
MH - Chromatin/metabolism
+MH - DNA Damage
+MH - Ubiquitination
+MH - Huntington Disease/genetics
+MH - Cell Line
PMC - PMC13086964
COIS- Competing interests: G.B. is the founder and chief executive officer (part-time)
of Function RX Ltd. The remaining authors declare no competing interests.
@@ -3865,8 +4991,8 @@ SO - Nat Commun. 2026 Mar 6;17(1):3551. doi: 10.1038/s41467-026-70051-9.
PMID- 41770933
OWN - NLM
STAT- MEDLINE
-DCOM- 20260305
-LR - 20260507
+DCOM- 20260610
+LR - 20260610
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -4047,19 +5173,20 @@ TA - Proc Natl Acad Sci U S A
JT - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN - EC 6.5.1.1 (DNA Ligase ATP)
-RN - 0 (LIG1 protein, human)
RN - 0 (Huntingtin Protein)
+RN - 0 (LIG1 protein, human)
+RN - 0 (Lig1 protein, mouse)
SB - IM
UOF - bioRxiv. 2025 Jul 18:2025.07.15.664798. doi: 10.1101/2025.07.15.664798. PMID:
40791503
-MH - *Huntington Disease/genetics
MH - *DNA Ligase ATP/genetics/metabolism
MH - Animals
-MH - Mice
+MH - *Huntington Disease/genetics/metabolism
MH - *Trinucleotide Repeat Expansion/genetics
MH - Humans
+MH - Mice
+MH - Huntingtin Protein/genetics/metabolism
MH - DNA Repair/genetics
-MH - Huntingtin Protein/genetics
MH - Oxidative Stress
PMC - PMC12974472
OTO - NOTNLM
@@ -4095,8 +5222,8 @@ SO - Proc Natl Acad Sci U S A. 2026 Mar 10;123(10):e2518854123. doi:
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -4270,18 +5397,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -4312,8 +5437,8 @@ SO - EBioMedicine. 2026 Mar;125:106190. doi: 10.1016/j.ebiom.2026.106190. Epub
PMID- 41741274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260309
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 1878-7479 (Electronic)
IS - 1933-7213 (Print)
IS - 1878-7479 (Linking)
@@ -4378,23 +5503,21 @@ JID - 101290381
RN - EC 2.7.11.1 (Casein Kinase II)
RN - C6RWP0N0L2 (silmitasertib)
RN - 0 (Naphthyridines)
-RN - 0 (Huntingtin Protein)
RN - 0 (Phenazines)
SB - IM
UOF - bioRxiv. 2025 Nov 20:2025.11.19.689275. doi: 10.1101/2025.11.19.689275. PMID:
41332649
MH - Animals
MH - *Huntington Disease/drug therapy/pathology
-MH - Mice
-MH - *Casein Kinase II/antagonists & inhibitors
MH - Disease Models, Animal
+MH - *Casein Kinase II/antagonists & inhibitors/metabolism
+MH - Mice
MH - *Naphthyridines/pharmacology/therapeutic use
MH - Mice, Transgenic
-MH - *Motor Activity/drug effects
-MH - Male
-MH - Mice, Inbred C57BL
-MH - Huntingtin Protein/genetics/metabolism
MH - Phenazines
+MH - Male
+MH - Corpus Striatum/drug effects/pathology/metabolism
+MH - *Motor Activity/drug effects
PMC - PMC12976551
OTO - NOTNLM
OT - CK2
@@ -5462,102 +6585,11 @@ AID - 10.1002/acn3.70328 [doi]
PST - aheadofprint
SO - Ann Clin Transl Neurol. 2026 Jan 31. doi: 10.1002/acn3.70328.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41557250
OWN - NLM
STAT- MEDLINE
-DCOM- 20260311
-LR - 20260313
+DCOM- 20260630
+LR - 20260630
IS - 2299-5684 (Electronic)
IS - 1734-1140 (Print)
IS - 1734-1140 (Linking)
@@ -5651,18 +6683,21 @@ TA - Pharmacol Rep
JT - Pharmacological reports : PR
JID - 101234999
RN - SY7Q814VUP (Calcium)
+RN - 0 (Huntingtin Protein)
RN - 0 (Calcium Channels)
+RN - 0 (HTT protein, human)
SB - IM
MH - Humans
-MH - *Huntington Disease/metabolism/pathology
-MH - *Fibroblasts/metabolism/drug effects
+MH - *Huntington Disease/metabolism
+MH - *Fibroblasts/metabolism
MH - Adult
MH - *Calcium/metabolism
MH - Female
MH - Male
MH - Middle Aged
-MH - Age of Onset
MH - Young Adult
+MH - Age of Onset
+MH - Huntingtin Protein
MH - Cell Line
MH - *Calcium Channels/metabolism
MH - Adolescent
@@ -5704,8 +6739,9 @@ SO - Pharmacol Rep. 2026 Apr;78(2):568-581. doi: 10.1007/s43440-025-00820-8. Ep
PMID- 41545439
OWN - NLM
-STAT- In-Process
-LR - 20260123
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
VI - 16
@@ -5719,23 +6755,23 @@ AB - Previous studies have found a markedly reduced risk of cancer among Huntin
disease (HD) patients with CAG >/= 40, but data on cancer risk at shorter repeat
numbers are lacking. The study includes 8149 subjects from Northern Sweden Health
and Disease Study. Genotyping yielded a large number of intermediate allele
- carriers (IA, CAG(n) 27-35, (n = 497), normal alleles (CAG(n) 17-26,n = 6584),
- short alleles (CAG 35 repeats, including
- reduced penetrance alleles (36-39; not guaranteed to suffer HD symptoms during a
- normal lifespan) and HD alleles > 39. Cancer diagnoses were retrieved from the
- Swedish Cancer Registry and the Hospital Discharge Registry and death
- certificates. We used Kaplan-Meier curves and Cox proportional hazard models to
- estimate the time to cancer, on strata of the population created by CAG repeat
- number intervals. Smoking status, BMI, as well as alcohol consumption were
- included in the models. 2735 participants (33.6%) had >/= 1 cancer type. The
- Hazard-Ratio (HR) for IA carriers compared with normal alleles was similar, 0.97
- CI 0.82-1.15). The reduced penetrance allele group (CAG(n) 36-39, n = 29) had HR
- of 0.54 CI 0.22-1.30 similar to what has been reported with a full penetrance
- allele. Intermediate allele carriers as a group did not have a reduced risk of
- cancer. It remains possible that reduced penetrance alleles confer lower risk of
- cancer, with signs of a dose-dependent protective effect of CAG repeat length.
- The latter finding needs to be confirmed in even larger cohorts as these repeat
- numbers are relatively rare.
+ carriers (IA, CAGn 27-35, (n = 497), normal alleles (CAGn 17-26,n = 6584), short
+ alleles (CAG 35 repeats, including reduced
+ penetrance alleles (36-39; not guaranteed to suffer HD symptoms during a normal
+ lifespan) and HD alleles > 39. Cancer diagnoses were retrieved from the Swedish
+ Cancer Registry and the Hospital Discharge Registry and death certificates. We
+ used Kaplan-Meier curves and Cox proportional hazard models to estimate the time
+ to cancer, on strata of the population created by CAG repeat number intervals.
+ Smoking status, BMI, as well as alcohol consumption were included in the models.
+ 2735 participants (33.6%) had >/= 1 cancer type. The Hazard-Ratio (HR) for IA
+ carriers compared with normal alleles was similar, 0.97 CI 0.82-1.15). The
+ reduced penetrance allele group (CAGn 36-39, n = 29) had HR of 0.54 CI 0.22-1.30
+ similar to what has been reported with a full penetrance allele. Intermediate
+ allele carriers as a group did not have a reduced risk of cancer. It remains
+ possible that reduced penetrance alleles confer lower risk of cancer, with signs
+ of a dose-dependent protective effect of CAG repeat length. The latter finding
+ needs to be confirmed in even larger cohorts as these repeat numbers are
+ relatively rare.
FAU - Sundblom, Jimmy
AU - Sundblom J
AD - Department of Medical Sciences, Neurosurgery, Uppsala University, Uppsala,
@@ -5760,7 +6796,25 @@ PL - England
TA - Sci Rep
JT - Scientific reports
JID - 101563288
+RN - 0 (Huntingtin Protein)
+RN - 0 (HTT protein, human)
SB - IM
+MH - Humans
+MH - Female
+MH - *Neoplasms/genetics/epidemiology
+MH - *Alleles
+MH - Male
+MH - *Huntingtin Protein/genetics
+MH - Middle Aged
+MH - *Huntington Disease/genetics
+MH - Heterozygote
+MH - Genetic Predisposition to Disease
+MH - Sweden/epidemiology
+MH - Penetrance
+MH - Risk Factors
+MH - Adult
+MH - Aged
+MH - Proportional Hazards Models
PMC - PMC12820381
OTO - NOTNLM
OT - Cancer
@@ -5775,13 +6829,13 @@ COIS- Competing interests: The authors declare no competing interests. Ethical
and the Expert Committee of the NSHDS. The study was carried out in accordance
with relevant guidelines and regulations.
EDAT- 2026/01/17 00:37
-MHDA- 2026/01/17 00:37
+MHDA- 2026/06/27 00:50
PMCR- 2026/01/16
CRDT- 2026/01/16 23:16
PHST- 2025/04/13 00:00 [received]
PHST- 2026/01/08 00:00 [accepted]
+PHST- 2026/06/27 00:50 [medline]
PHST- 2026/01/17 00:37 [pubmed]
-PHST- 2026/01/17 00:37 [medline]
PHST- 2026/01/16 23:16 [entrez]
PHST- 2026/01/16 00:00 [pmc-release]
AID - 10.1038/s41598-026-35941-4 [pii]
@@ -5792,8 +6846,9 @@ SO - Sci Rep. 2026 Jan 16;16(1):2597. doi: 10.1038/s41598-026-35941-4.
PMID- 41520110
OWN - NLM
-STAT- In-Process
-LR - 20260209
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 21
@@ -5874,6 +6929,16 @@ TA - Orphanet J Rare Dis
JT - Orphanet journal of rare diseases
JID - 101266602
SB - IM
+MH - Humans
+MH - *Huntington Disease/genetics/physiopathology
+MH - Male
+MH - Female
+MH - Middle Aged
+MH - Adult
+MH - Retrospective Studies
+MH - Trinucleotide Repeats/genetics
+MH - Sex Factors
+MH - Trinucleotide Repeat Expansion/genetics
PMC - PMC12882381
OTO - NOTNLM
OT - Functional capacity
@@ -5887,13 +6952,13 @@ COIS- Declarations. Ethics approval and consent to participate: Data analyzed in
publication: Not applicable. Competing interests: The authors declare that they
have no competing interests.
EDAT- 2026/01/11 00:34
-MHDA- 2026/01/11 00:34
+MHDA- 2026/06/27 00:57
PMCR- 2026/01/10
CRDT- 2026/01/10 23:24
PHST- 2025/09/29 00:00 [received]
PHST- 2025/12/19 00:00 [accepted]
+PHST- 2026/06/27 00:57 [medline]
PHST- 2026/01/11 00:34 [pubmed]
-PHST- 2026/01/11 00:34 [medline]
PHST- 2026/01/10 23:24 [entrez]
PHST- 2026/01/10 00:00 [pmc-release]
AID - 10.1186/s13023-025-04184-3 [pii]
@@ -8220,14 +9285,18 @@ SO - Clin Genet. 2026 Mar;109(3):521-528. doi: 10.1111/cge.70076. Epub 2025 Oct
PMID- 41126427
OWN - NLM
-STAT- Publisher
-LR - 20251023
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260613
IS - 1873-5592 (Electronic)
IS - 1389-4501 (Linking)
-DP - 2025 Oct 21
+VI - 27
+IP - 3
+DP - 2026
TI - Rationally Engineered Small Molecules: Pharmacophore Modeling and Molecular
Docking Studies Targeting Toxic Polyglutamine (PolyQ) Repeats in Huntington's
Disease.
+PG - 173-190
LID - 10.2174/0113894501393938251006195954 [doi]
AB - INTRODUCTION: Huntington's disease (HD) is a progressive neurodegenerative
disorder caused by the accumulation of mutant huntingtin protein (mHTT) with
@@ -8244,7 +9313,7 @@ AB - INTRODUCTION: Huntington's disease (HD) is a progressive neurodegenerative
assess pharmacokinetic suitability. RESULTS: Ten DON-like ligands showed
favorable pharmacophore features. Docking studies identified five compounds with
strong binding affinities and key interactions with the polyQ region. These top
- candidates also demonstrated acceptable ADME/T profiles and drug-likeness.
+ candidates also demonstrated acceptable ADMET profiles and drug-likeness.
DISCUSSION: The five lead compounds identified in this study demonstrate
potential to interfere with mHTT aggregation, a key pathological feature of HD.
Their favorable binding and pharmacokinetic properties support their candidacy
@@ -8262,46 +9331,59 @@ AD - Department of Internal Medicine, Texas Tech University Health Sciences Cen
Lubbock, TX, 79430, USA.
FAU - Vatapatri, Amardev Rajesh
AU - Vatapatri AR
-AD - Acharya Ngarjuna University, Department of Biotechnology, Guntur, Andhra Pradesh,
+AD - Department of Biotechnology, Acharya Ngarjuna University, Guntur, Andhra Pradesh,
India.
FAU - Motakatla, Philip Irwin
AU - Motakatla PI
-AD - Texas Tech University, Department of Biology, Lubbock, USA.
-FAU - Pasupuleti, Bhragavi
+AD - Department of Biology, Texas Tech University, Lubbock, USA.
+FAU - Pasupuleti, Bhargavi
AU - Pasupuleti B
-AD - Texas Tech University, Department of Biology, Lubbock, USA.
+AD - Department of Biology, Texas Tech University, Lubbock, USA.
FAU - Munikumar, Manne
AU - Munikumar M
AD - Bioinformatics Division, Manna Biotech Private Limited, Bapuji Nagar, Main Road
- Nacharam, Hyderabad, 500076, Telangana, India.
+ Nacharam, Hyderabad, Telangana, 500076, India.
LA - eng
PT - Journal Article
-DEP - 20251021
PL - United Arab Emirates
TA - Curr Drug Targets
JT - Current drug targets
JID - 100960531
+RN - 26700-71-0 (polyglutamine)
+RN - 0 (Peptides)
+RN - 0 (Huntingtin Protein)
+RN - 0 (Ligands)
+RN - 0 (HTT protein, human)
+RN - 0 (Small Molecule Libraries)
SB - IM
+MH - *Huntington Disease/drug therapy/metabolism/genetics
+MH - Pharmacophore
+MH - Molecular Docking Simulation
+MH - *Peptides/metabolism/chemistry
+MH - Humans
+MH - *Huntingtin Protein/metabolism/chemistry/genetics
+MH - Ligands
+MH - *Small Molecule Libraries/chemistry/pharmacology
OTO - NOTNLM
OT - Huntington's disease
OT - ligands
-OT - molecular docking studies.
+OT - molecular docking studies
OT - mutant huntingtin
OT - pharmacophore
OT - polyglutamine
EDAT- 2025/10/23 06:27
-MHDA- 2025/10/23 06:27
+MHDA- 2026/06/15 11:35
CRDT- 2025/10/23 00:10
PHST- 2025/03/31 00:00 [received]
PHST- 2025/07/07 00:00 [revised]
PHST- 2025/07/22 00:00 [accepted]
-PHST- 2025/10/23 06:27 [medline]
+PHST- 2026/06/15 11:35 [medline]
PHST- 2025/10/23 06:27 [pubmed]
PHST- 2025/10/23 00:10 [entrez]
AID - CDT-EPUB-151268 [pii]
AID - 10.2174/0113894501393938251006195954 [doi]
-PST - aheadofprint
-SO - Curr Drug Targets. 2025 Oct 21. doi: 10.2174/0113894501393938251006195954.
+PST - ppublish
+SO - Curr Drug Targets. 2026;27(3):173-190. doi: 10.2174/0113894501393938251006195954.
PMID- 41095675
OWN - NLM
@@ -8769,7 +9851,7 @@ PMID- 41030958
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260324
-LR - 20260324
+LR - 20260619
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 Aug 6
@@ -10376,7 +11458,7 @@ PMID- 40791503
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260310
-LR - 20260310
+LR - 20260609
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 Jul 18
@@ -16259,7 +17341,7 @@ PMID- 40055280
OWN - NLM
STAT- MEDLINE
DCOM- 20250410
-LR - 20250412
+LR - 20260616
IS - 1179-1934 (Electronic)
IS - 1172-7047 (Print)
IS - 1172-7047 (Linking)
@@ -16503,15 +17585,15 @@ OT - Huntington's disease
OT - neuropalliative
OT - phenoconversion
OT - purpose in life
-COIS- Author Disclosure Statement No competing financial interests exist.
EDAT- 2025/03/05 06:22
MHDA- 2025/06/24 11:09
-PMCR- 2025/08/14
+PMCR- 2026/06/16
CRDT- 2025/03/05 03:23
PHST- 2025/06/24 11:09 [medline]
PHST- 2025/03/05 06:22 [pubmed]
PHST- 2025/03/05 03:23 [entrez]
-PHST- 2025/08/14 00:00 [pmc-release]
+PHST- 2026/06/16 00:00 [pmc-release]
+AID - 10.1089/jpm.2024.0227 [pii]
AID - 10.1089/jpm.2024.0227 [doi]
PST - ppublish
SO - J Palliat Med. 2025 Jun;28(6):803-807. doi: 10.1089/jpm.2024.0227. Epub 2025 Mar
@@ -17476,7 +18558,7 @@ PMID- 39923663
OWN - NLM
STAT- MEDLINE
DCOM- 20250506
-LR - 20250506
+LR - 20260616
IS - 1872-9142 (Electronic)
IS - 0161-5890 (Linking)
VI - 179
@@ -20360,7 +21442,7 @@ PMID- 39614274
OWN - NLM
STAT- MEDLINE
DCOM- 20241130
-LR - 20260520
+LR - 20260622
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 19
@@ -22442,7 +23524,7 @@ PMID- 39153206
OWN - NLM
STAT- MEDLINE
DCOM- 20240817
-LR - 20240820
+LR - 20260617
IS - 1582-4934 (Electronic)
IS - 1582-1838 (Print)
IS - 1582-1838 (Linking)
@@ -22535,6 +23617,7 @@ LA - eng
GR - Princess Nourah Bint Abdulrahman University/
GR - RSPD2024R811/King Saud University/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
PL - England
TA - J Cell Mol Med
JT - Journal of cellular and molecular medicine
@@ -25779,7 +26862,7 @@ PMID- 38544341
OWN - NLM
STAT- MEDLINE
DCOM- 20240514
-LR - 20260127
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 11
@@ -25897,6 +26980,7 @@ GR - Huntington's Disease Society of America: Human Biology Project/
GR - PI17/001885/Instituto de Salud Carlos III/
GR - PI21/01758/Instituto de Salud Carlos III/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240327
PL - United States
TA - Ann Clin Transl Neurol
@@ -27572,7 +28656,7 @@ PMID- 38237588
OWN - NLM
STAT- MEDLINE
DCOM- 20240325
-LR - 20240325
+LR - 20260617
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Linking)
VI - 112
@@ -27641,6 +28725,7 @@ AD - Laboratory of Molecular Biology, The Rockefeller University, New York, NY,
Electronic address: heintz@rockefeller.edu.
LA - eng
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20240117
PL - United States
TA - Neuron
@@ -27918,6 +29003,7 @@ AID - 10.3390/biomedicines11123336 [doi]
PST - epublish
SO - Biomedicines. 2023 Dec 17;11(12):3336. doi: 10.3390/biomedicines11123336.
+
PMID- 38092667
OWN - NLM
STAT- MEDLINE
@@ -28514,7 +29600,7 @@ PMID- 37992538
OWN - NLM
STAT- MEDLINE
DCOM- 20240108
-LR - 20240108
+LR - 20260624
IS - 1873-5126 (Electronic)
IS - 1353-8020 (Linking)
VI - 118
@@ -28595,6 +29681,7 @@ AD - Department of Neurology, Seoul Metropolitan Government - Seoul National
Seoul, South Korea. Electronic address: wieber04@snu.ac.kr.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231121
PL - England
TA - Parkinsonism Relat Disord
@@ -28637,7 +29724,6 @@ PST - ppublish
SO - Parkinsonism Relat Disord. 2024 Jan;118:105930. doi:
10.1016/j.parkreldis.2023.105930. Epub 2023 Nov 21.
-
PMID- 37961595
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -52323,7 +53409,7 @@ PMID- 33242422
OWN - NLM
STAT- MEDLINE
DCOM- 20210225
-LR - 20260526
+LR - 20260603
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -55073,6 +56159,7 @@ AID - 10.1093/hmg/ddaa184 [doi]
PST - ppublish
SO - Hum Mol Genet. 2020 Sep 29;29(16):2788-2802. doi: 10.1093/hmg/ddaa184.
+
PMID- 32876667
OWN - NLM
STAT- MEDLINE
@@ -55932,7 +57019,6 @@ PST - ppublish
SO - Genet Med. 2020 Dec;22(12):2108-2113. doi: 10.1038/s41436-020-0917-z. Epub 2020
Aug 3.
-
PMID- 32702387
OWN - NLM
STAT- MEDLINE
@@ -68133,7 +69219,6 @@ STAT- MEDLINE
DCOM- 20200406
LR - 20200613
IS - 1097-0193 (Electronic)
-IS - 1065-9471 (Print)
IS - 1065-9471 (Linking)
VI - 40
IP - 5
@@ -68266,7 +69351,6 @@ OT - subcortical structures
OT - subregion
EDAT- 2018/10/31 06:00
MHDA- 2020/04/09 06:00
-PMCR- 2018/10/30
CRDT- 2018/10/31 06:00
PHST- 2018/03/07 00:00 [received]
PHST- 2018/10/18 00:00 [revised]
@@ -68274,8 +69358,6 @@ PHST- 2018/10/23 00:00 [accepted]
PHST- 2018/10/31 06:00 [pubmed]
PHST- 2020/04/09 06:00 [medline]
PHST- 2018/10/31 06:00 [entrez]
-PHST- 2018/10/30 00:00 [pmc-release]
-AID - HBM24456 [pii]
AID - 10.1002/hbm.24456 [doi]
PST - ppublish
SO - Hum Brain Mapp. 2019 Apr 1;40(5):1419-1433. doi: 10.1002/hbm.24456. Epub 2018 Oct
@@ -80280,7 +81362,6 @@ STAT- MEDLINE
DCOM- 20180507
LR - 20250529
IS - 1097-0193 (Electronic)
-IS - 1065-9471 (Print)
IS - 1065-9471 (Linking)
VI - 38
IP - 10
@@ -80410,7 +81491,6 @@ OT - premanifest HD
OT - spatiotemporal order
EDAT- 2017/06/29 06:00
MHDA- 2018/05/08 06:00
-PMCR- 2017/06/28
CRDT- 2017/06/29 06:00
PHST- 2017/04/03 00:00 [received]
PHST- 2017/06/12 00:00 [revised]
@@ -80418,8 +81498,6 @@ PHST- 2017/06/19 00:00 [accepted]
PHST- 2017/06/29 06:00 [pubmed]
PHST- 2018/05/08 06:00 [medline]
PHST- 2017/06/29 06:00 [entrez]
-PHST- 2017/06/28 00:00 [pmc-release]
-AID - HBM23713 [pii]
AID - 10.1002/hbm.23713 [doi]
PST - ppublish
SO - Hum Brain Mapp. 2017 Oct;38(10):5035-5050. doi: 10.1002/hbm.23713. Epub 2017 Jun
@@ -84737,6 +85815,7 @@ AID - 10.1093/hmg/ddx033 [doi]
PST - ppublish
SO - Hum Mol Genet. 2017 Apr 1;26(7):1258-1267. doi: 10.1093/hmg/ddx033.
+
PMID- 28153533
OWN - NLM
STAT- MEDLINE
@@ -85425,7 +86504,6 @@ PST - ppublish
SO - Genetics. 2017 Feb;205(2):503-516. doi: 10.1534/genetics.116.195578. Epub 2016
Dec 2.
-
PMID- 27870408
OWN - NLM
STAT- MEDLINE
@@ -89869,7 +90947,6 @@ STAT- MEDLINE
DCOM- 20170206
LR - 20250307
IS - 1573-6830 (Electronic)
-IS - 0272-4340 (Print)
IS - 0272-4340 (Linking)
VI - 36
IP - 3
@@ -89976,16 +91053,13 @@ OT - Neurodegeneration
OT - Trinucleotide repeat
EDAT- 2016/03/10 06:00
MHDA- 2017/02/07 06:00
-PMCR- 2016/03/07
CRDT- 2016/03/09 06:00
PHST- 2015/11/04 00:00 [received]
PHST- 2016/02/13 00:00 [accepted]
PHST- 2016/03/09 06:00 [entrez]
PHST- 2016/03/10 06:00 [pubmed]
PHST- 2017/02/07 06:00 [medline]
-PHST- 2016/03/07 00:00 [pmc-release]
AID - 10.1007/s10571-016-0350-7 [pii]
-AID - 350 [pii]
AID - 10.1007/s10571-016-0350-7 [doi]
PST - ppublish
SO - Cell Mol Neurobiol. 2016 Apr;36(3):459-70. doi: 10.1007/s10571-016-0350-7. Epub
@@ -109983,6 +111057,7 @@ PST - ppublish
SO - J Hum Genet. 2012 Dec;57(12):796-803. doi: 10.1038/jhg.2012.120. Epub 2012 Oct
11.
+
PMID- 23042244
OWN - NLM
STAT- MEDLINE
@@ -110552,7 +111627,6 @@ PST - ppublish
SO - Hum Mol Genet. 2012 Nov 15;21(22):4939-47. doi: 10.1093/hmg/dds337. Epub 2012 Aug
21.
-
PMID- 22833283
OWN - NLM
STAT- MEDLINE
@@ -110646,7 +111720,6 @@ STAT- MEDLINE
DCOM- 20130218
LR - 20211021
IS - 1420-9071 (Electronic)
-IS - 1420-682X (Print)
IS - 1420-682X (Linking)
VI - 69
IP - 24
@@ -110722,7 +111795,6 @@ PMC - PMC3874886
MID - NIHMS522110
EDAT- 2012/07/21 06:00
MHDA- 2013/02/19 06:00
-PMCR- 2012/07/20
CRDT- 2012/07/21 06:00
PHST- 2011/11/09 00:00 [received]
PHST- 2012/07/03 00:00 [accepted]
@@ -110730,8 +111802,6 @@ PHST- 2012/06/07 00:00 [revised]
PHST- 2012/07/21 06:00 [entrez]
PHST- 2012/07/21 06:00 [pubmed]
PHST- 2013/02/19 06:00 [medline]
-PHST- 2012/07/20 00:00 [pmc-release]
-AID - 1083 [pii]
AID - 10.1007/s00018-012-1083-5 [doi]
PST - ppublish
SO - Cell Mol Life Sci. 2012 Dec;69(24):4191-204. doi: 10.1007/s00018-012-1083-5. Epub
@@ -111424,7 +112494,7 @@ PMID- 22649062
OWN - NLM
STAT- MEDLINE
DCOM- 20121113
-LR - 20250529
+LR - 20260603
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
@@ -111495,7 +112565,6 @@ AU - Ross CA
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
GR - P50 NS016375/NS/NINDS NIH HHS/United States
-GR - P41 EB015909/EB/NIBIB NIH HHS/United States
GR - P01 NS016375/NS/NINDS NIH HHS/United States
GR - P50 AG005146/AG/NIA NIH HHS/United States
GR - NS16375/NS/NINDS NIH HHS/United States
@@ -115644,7 +116713,6 @@ STAT- MEDLINE
DCOM- 20120222
LR - 20250529
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 32
IP - 1
@@ -115747,14 +116815,11 @@ PMC - PMC3306223
MID - NIHMS347877
EDAT- 2012/01/06 06:00
MHDA- 2012/02/23 06:00
-PMCR- 2012/07/04
CRDT- 2012/01/06 06:00
PHST- 2012/01/06 06:00 [entrez]
PHST- 2012/01/06 06:00 [pubmed]
PHST- 2012/02/23 06:00 [medline]
-PHST- 2012/07/04 00:00 [pmc-release]
AID - 32/1/183 [pii]
-AID - 3732969 [pii]
AID - 10.1523/JNEUROSCI.1305-11.2012 [doi]
PST - ppublish
SO - J Neurosci. 2012 Jan 4;32(1):183-93. doi: 10.1523/JNEUROSCI.1305-11.2012.
@@ -133508,6 +134573,7 @@ PST - ppublish
SO - Hum Genet. 2007 Sep;122(2):175-82. doi: 10.1007/s00439-007-0393-4. Epub 2007 Jun
14.
+
PMID- 17562929
OWN - NLM
STAT- MEDLINE
@@ -134041,7 +135107,6 @@ AID - 10.1385/jmn/31:02:139 [doi]
PST - ppublish
SO - J Mol Neurosci. 2007;31(2):139-48. doi: 10.1385/jmn/31:02:139.
-
PMID- 17427191
OWN - NLM
STAT- MEDLINE
@@ -152106,6 +153171,7 @@ AID - 10.1212/wnl.53.4.806 [doi]
PST - ppublish
SO - Neurology. 1999 Sep 11;53(4):806-12. doi: 10.1212/wnl.53.4.806.
+
PMID- 10486315
OWN - NLM
STAT- MEDLINE
@@ -152703,7 +153769,6 @@ PST - ppublish
SO - Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1035-45. doi:
10.1098/rstb.1999.0456.
-
PMID- 10434297
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/JPH3_batch_01.txt b/data/literature/JPH3_batch_01.txt
index 9ae9e4ec..dde21568 100644
--- a/data/literature/JPH3_batch_01.txt
+++ b/data/literature/JPH3_batch_01.txt
@@ -1,14 +1,18 @@
PMID- 41957010
OWN - NLM
-STAT- Publisher
-LR - 20260409
+STAT- PubMed-not-MEDLINE
+DCOM- 20260607
+LR - 20260607
IS - 2056-7944 (Electronic)
IS - 2056-7944 (Linking)
+VI - 11
+IP - 1
DP - 2026 Apr 9
TI - Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale
study of rare variants and repeat expansions.
LID - 10.1038/s41525-026-00567-y [doi]
+LID - 33
AB - Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes.
In clinical practice, however, non-genetic causes are rare. The most common
genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease
@@ -141,18 +145,6 @@ AD - Unit of Neurodegenerative Diseases, Department of Neurology, University Ho
Germans Trias i Pujol Badalona, Barcelona, Spain. pastorpau@gmail.com.
CN - Spanish Study Group for Genetics of Chorea members
LA - eng
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
Services/
PT - Journal Article
@@ -161,22 +153,26 @@ PL - England
TA - NPJ Genom Med
JT - NPJ genomic medicine
JID - 101685193
+PMC - PMC13243629
COIS- Competing interests: The authors declare no competing interests by P.P. received
honoraria from Lilly. The remaining authors declare no competing interests.
FIR - Pastor, Pau
IR - Pastor P
EDAT- 2026/04/10 00:33
-MHDA- 2026/04/10 00:33
+MHDA- 2026/04/10 00:34
+PMCR- 2026/04/09
CRDT- 2026/04/09 23:16
PHST- 2025/07/01 00:00 [received]
PHST- 2026/03/19 00:00 [accepted]
-PHST- 2026/04/10 00:33 [medline]
+PHST- 2026/04/10 00:34 [medline]
PHST- 2026/04/10 00:33 [pubmed]
PHST- 2026/04/09 23:16 [entrez]
+PHST- 2026/04/09 00:00 [pmc-release]
AID - 10.1038/s41525-026-00567-y [pii]
+AID - 567 [pii]
AID - 10.1038/s41525-026-00567-y [doi]
-PST - aheadofprint
-SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
+PST - epublish
+SO - NPJ Genom Med. 2026 Apr 9;11(1):33. doi: 10.1038/s41525-026-00567-y.
PMID- 41074680
OWN - NLM
diff --git a/data/literature/LRP12_batch_01.txt b/data/literature/LRP12_batch_01.txt
index 1f4265f5..b3a6fba5 100644
--- a/data/literature/LRP12_batch_01.txt
+++ b/data/literature/LRP12_batch_01.txt
@@ -1,8 +1,9 @@
PMID- 41888971
OWN - NLM
-STAT- In-Process
-LR - 20260329
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -41,8 +42,7 @@ AB - BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle dis
allele-specific flanking sequences, and the combined effects of repeat size and
methylation contribute to patient regional frequency, repeat stability, and
clinical variability, respectively, offering insight into disease pathomechanism
- and potential therapeutic targets. SUPPLEMENTARY INFORMATION: The online version
- contains supplementary material available at 10.1186/s13073-026-01617-x.
+ and potential therapeutic targets.
FAU - Eura, Nobuyuki
AU - Eura N
AD - Department of Neuromuscular Research, National Institute of Neuroscience,
@@ -107,7 +107,28 @@ PL - England
TA - Genome Med
JT - Genome medicine
JID - 101475844
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Adaptor Proteins, Signal Transducing)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Oculopharyngodistal Myopathy
SB - IM
+MH - Humans
+MH - *DNA Methylation
+MH - *Trinucleotide Repeat Expansion
+MH - Haplotypes
+MH - *Muscular Dystrophies/genetics
+MH - Male
+MH - Female
+MH - Adaptor Proteins, Signal Transducing/genetics
+MH - Phenotype
+MH - Adult
+MH - Genetic Association Studies
+MH - Adolescent
+MH - CpG Islands
+MH - Child
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
PMC - PMC13023157
OTO - NOTNLM
OT - Epigenomic modification
@@ -123,12 +144,12 @@ COIS- Declarations. Ethics approval and consent to participate: All patients pro
in this study was obtained from all participants. Competing interests: The
authors declare no competing interests.
EDAT- 2026/03/27 07:14
-MHDA- 2026/03/27 07:14
+MHDA- 2026/06/27 18:39
PMCR- 2026/03/27
CRDT- 2026/03/27 01:15
PHST- 2025/07/15 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
-PHST- 2026/03/27 07:14 [medline]
+PHST- 2026/06/27 18:39 [medline]
PHST- 2026/03/27 07:14 [pubmed]
PHST- 2026/03/27 01:15 [entrez]
PHST- 2026/03/27 00:00 [pmc-release]
@@ -141,8 +162,8 @@ SO - Genome Med. 2026 Mar 27;18(1):33. doi: 10.1186/s13073-026-01617-x.
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -215,13 +236,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
@@ -390,13 +421,17 @@ SO - Genomics Proteomics Bioinformatics. 2025 Oct 22:qzaf094. doi:
PMID- 41125376
OWN - NLM
-STAT- Publisher
-LR - 20251022
+STAT- MEDLINE
+DCOM- 20260614
+LR - 20260614
IS - 1349-7235 (Electronic)
IS - 0918-2918 (Linking)
-DP - 2025 Oct 23
+VI - 65
+IP - 12
+DP - 2026 Jun 15
TI - A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease
Depending on the CGG Repeat Number in LRP12.
+PG - 1688-1692
LID - 10.2169/internalmedicine.6194-25 [doi]
AB - This study describes a family of patients with distal muscle atrophy and
oculopharyngodistal myopathy (OPDM). Patients with distal muscle atrophy
@@ -414,31 +449,31 @@ AD - Department of Neurology, Nagoya University Graduate School of Medicine, Ja
FAU - Tsujikawa, Koyo
AU - Tsujikawa K
AD - Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
-AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
- University, Japan.
+AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
+ and Medicine, Hiroshima University, Japan.
FAU - Murakami, Ayuka
AU - Murakami A
AD - Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
FAU - Kume, Kodai
AU - Kume K
-AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
- and Medicine, Hiroshima University, Japan.
-FAU - Nakazawa, Yuka
-AU - Nakazawa Y
AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
University, Japan.
+FAU - Nakazawa, Yuka
+AU - Nakazawa Y
+AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
+ and Medicine, Hiroshima University, Japan.
AD - Department of Human Genetics and Molecular Biology, Graduate School of Medicine,
Nagoya University, Japan.
FAU - Oso, Taichi
AU - Oso T
-AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
- University, Japan.
+AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
+ and Medicine, Hiroshima University, Japan.
AD - Department of Human Genetics and Molecular Biology, Graduate School of Medicine,
Nagoya University, Japan.
FAU - Nishio, Yosuke
AU - Nishio Y
-AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
- University, Japan.
+AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
+ and Medicine, Hiroshima University, Japan.
FAU - Matsuo, Koji
AU - Matsuo K
AD - Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
@@ -450,8 +485,8 @@ AU - Araki K
AD - Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
FAU - Ogi, Tomoo
AU - Ogi T
-AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
- University, Japan.
+AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
+ and Medicine, Hiroshima University, Japan.
AD - Department of Human Genetics and Molecular Biology, Graduate School of Medicine,
Nagoya University, Japan.
AD - Division of Animal Medical Science, Center for One Medicine Innovative
@@ -460,34 +495,49 @@ AD - Division of Molecular Physiology and Dynamics, Institute for Glyco-core Re
Nagoya University, Japan.
FAU - Kawakami, Hideshi
AU - Kawakami H
-AD - Department of Molecular Epidemiology, Research Institute for Radiation Biology
- and Medicine, Hiroshima University, Japan.
+AD - Department of Genetics, Research Institute of Environmental Medicine, Nagoya
+ University, Japan.
FAU - Katsuno, Masahisa
AU - Katsuno M
AD - Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20251023
PL - Japan
TA - Intern Med
JT - Internal medicine (Tokyo, Japan)
JID - 9204241
+RN - 0 (LDL-Receptor Related Proteins)
+RN - Oculopharyngodistal Myopathy
SB - IM
+MH - Humans
+MH - Phenotype
+MH - Female
+MH - *Muscular Dystrophies/genetics
+MH - Male
+MH - *LDL-Receptor Related Proteins/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Pedigree
+MH - Middle Aged
+MH - *Neuromuscular Diseases/genetics
+MH - Adult
OTO - NOTNLM
OT - CGG repeat expansions
-OT - Distal muscular atrophy
OT - LRP12
+OT - distal muscular atrophy
OT - long read sequencing
OT - oculopharyngodistal myopathy
EDAT- 2025/10/23 00:26
-MHDA- 2025/10/23 00:26
+MHDA- 2026/06/15 11:37
CRDT- 2025/10/22 21:24
-PHST- 2025/10/23 00:26 [medline]
+PHST- 2026/06/15 11:37 [medline]
PHST- 2025/10/23 00:26 [pubmed]
PHST- 2025/10/22 21:24 [entrez]
AID - 10.2169/internalmedicine.6194-25 [doi]
-PST - aheadofprint
-SO - Intern Med. 2025 Oct 23. doi: 10.2169/internalmedicine.6194-25.
+PST - ppublish
+SO - Intern Med. 2026 Jun 15;65(12):1688-1692. doi: 10.2169/internalmedicine.6194-25.
+ Epub 2025 Oct 23.
PMID- 40645757
OWN - NLM
diff --git a/data/literature/MUC1_batch_01.txt b/data/literature/MUC1_batch_01.txt
index 14f9afcd..209a51e0 100644
--- a/data/literature/MUC1_batch_01.txt
+++ b/data/literature/MUC1_batch_01.txt
@@ -1,9 +1,8 @@
PMID- 42175825
OWN - NLM
-STAT- MEDLINE
-DCOM- 20260523
-LR - 20260526
+STAT- In-Process
+LR - 20260623
IS - 1095-8355 (Electronic)
IS - 1065-6995 (Linking)
VI - 50
@@ -126,42 +125,51 @@ SO - Cell Biol Int. 2026 Jun;50(6):e70167. doi: 10.1002/cbin.70167.
PMID- 41961547
OWN - NLM
STAT- Publisher
-LR - 20260421
+LR - 20260610
IS - 1533-3450 (Electronic)
IS - 1046-6673 (Linking)
DP - 2026 Apr 10
-TI - Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal
- Dominant Tubulointerstitial Kidney Disease Diagnosis.
+TI - Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat
+ Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease
+ Diagnosis.
LID - 10.1681/ASN.0000001103 [doi]
-AB - BACKGROUND: ADTKD-MUC1 is caused by frameshift mutations in the MUC1 gene,
- producing a frameshifted neoprotein (MUC1fs) toxic to kidney cells. The gene's
- variable number of tandem repeats (VNTR), with approximately 80% guanine/cytosine content, has
- made it largely inaccessible to standard short-read sequencing, leaving the
- reference sequence and natural variation poorly defined and complicating mutation
- detection. METHODS: Using Single Molecule, Real-Time (SMRT) sequencing, we
- characterized MUC1 VNTR in 300 individuals, including 279 from 143 families
- suspected of having ADTKD-MUC1, assessing VNTR length, repeat structure, and
- frameshift mutations. Results were compared with the CLIA-approved
- probe-extension assay, detecting the prevalent 59dupC mutation, and with MUC1fs
- immunohistochemistry, which detects the pathogenic protein independent of the
- underlying genomic change. RESULTS: We identified 215 unique VNTR alleles
- composed of 80 distinct repeat units, 46 (58%) of which were novel, and nine
- distinct frameshift mutations present on 52 mutated alleles. Overall, MUC1
- frameshift mutations were identified in 71 of 143 families (50%) with suspected
- ADTKD-MUC1, comprising 135 affected individuals (48%). The SMRT assay
- outperformed the probe-extension assay by identifying frameshift mutations in two
- families with previously inconclusive results and in eight additional families
- whose mutations were undetectable by the probe-extension design. When successful,
- SMRT assay showed 100% concordance with probe-extension assay at the family level
- and 98% at the individual level, with discordance attributable to allelic dropout
- inherent to long-read sequencing. Analysis of the mutational spectrum confirmed
- 59dupC as the most prevalent mutation, affecting approximately 90% of families, while the
- other eight mutation types occurred at most twice. CONCLUSIONS: The SMRT assay
- outperformed the CLIA-approved probe-extension assay by detecting essentially all
- VNTR-associated frameshift mutations. The probe-extension assay identified approximately 90%
- of affected families. MUC1fs immunohistochemistry added diagnostic value in
- genetically unresolved cases by detecting the pathogenic protein independent of
- the underlying mutation.
+AB - KEY POINTS: Single-molecule real-time sequencing with the PacMUC1 script resolved
+ exact MUC1 variable tandem repeat structure and full allelic variation. In 300
+ individuals, the protocol identified 215 distinct MUC1 tandem repeat alleles with
+ 80 repeat units and nine frameshift mutation types. Probe extension assay
+ identified 90% of families with frameshift mutations, detection of frameshifted
+ mucin-1 aided genetically unresolved cases. BACKGROUND: ADTKD- MUC1 is caused by
+ frameshift mutations in the MUC1 gene, producing a frameshifted neoprotein
+ (MUC1fs) toxic to kidney cells. The gene's variable number of tandem repeats
+ (VNTR), with approximately 80% guanine/cytosine content, has made it largely
+ inaccessible to standard short-read sequencing, leaving the reference sequence
+ and natural variation poorly defined and complicating mutation detection.
+ METHODS: Using single-molecule real-time (SMRT) sequencing, we characterized MUC1
+ VNTR in 300 individuals, including 279 from 143 families suspected of having
+ ADTKD- MUC1 , assessing VNTR length, repeat structure, and frameshift mutations.
+ Results were compared with the Clinical Laboratory Improvement
+ Amendments-approved probe-extension assay, detecting the prevalent 59dupC
+ mutation, and with MUC1fs immunohistochemistry, which detects the pathogenic
+ protein independent of the underlying genomic change. RESULTS: We identified 215
+ unique VNTR alleles composed of 80 distinct repeat units, 46 (58%) of which were
+ novel, and nine distinct frameshift mutations present on 52 mutated alleles.
+ Overall, MUC1 frameshift mutations were identified in 71 of 143 families (50%)
+ with suspected ADTKD- MUC1 , comprising 135 affected individuals (48%). The SMRT
+ assay outperformed the probe-extension assay by identifying frameshift mutations
+ in two families with previously inconclusive results and in eight additional
+ families whose mutations were undetectable by the probe-extension design. When
+ successful, SMRT assay showed 100% concordance with probe-extension assay at the
+ family level and 98% at the individual level, with discordance attributable to
+ allelic dropout inherent to both long-range PCR amplification and long-read
+ sequencing. Analysis of the mutational spectrum confirmed 59dupC as the most
+ prevalent mutation, affecting approximately 90% of families, while the other
+ eight mutation types occurred at most twice. CONCLUSIONS: The SMRT assay
+ outperformed the Clinical Laboratory Improvement Amendments-approved
+ probe-extension assay by detecting essentially all VNTR-associated frameshift
+ mutations. The probe-extension assay identified approximately 90% of affected
+ families. MUC1fs immunohistochemistry added diagnostic value in genetically
+ unresolved cases by detecting the pathogenic protein independent of the
+ underlying mutation.
CI - Copyright (c) 2026 by the American Society of Nephrology.
FAU - Vrbacka, Alena
AU - Vrbacka A
@@ -179,7 +187,7 @@ AUID- ORCID: 0000-0003-3771-0949
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Janousek, Vaclav
AU - Janousek V
AUID- ORCID: 0000-0002-6894-6826
@@ -190,16 +198,17 @@ AU - Radina M
AUID- ORCID: 0009-0001-0027-8665
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
-FAU - Vyletal, Petr
-AU - Vyletal P
+FAU - Vylet'al, Petr
+AU - Vylet'al P
AUID- ORCID: 0000-0002-9357-1237
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
FAU - Bitar, Ibrahim
AU - Bitar I
AD - Department of Microbiology, Faculty of Medicine and University Hospital Pilsen,
- Charles University, Pilsen, Czechia.
-AD - Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czechia.
+ Charles University, Pilsen, Czech Republic.
+AD - Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czech
+ Republic.
FAU - Stranecky, Viktor
AU - Stranecky V
AUID- ORCID: 0000-0002-2599-6479
@@ -250,19 +259,19 @@ FAU - Bleyer, Heidi
AU - Bleyer H
AUID- ORCID: 0009-0000-4022-6416
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Taylor, Abby
AU - Taylor A
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Martin, Lauren
AU - Martin L
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Sanchez, Antonio
AU - Sanchez A
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Rysava, Romana
AU - Rysava R
AUID- ORCID: 0000-0002-4162-128
@@ -276,21 +285,21 @@ FAU - Rajnochova-Bloudickova, Silvie
AU - Rajnochova-Bloudickova S
AUID- ORCID: 0000-0003-0270-571
AD - Department of Nephrology, Transplant Centre, Institute for Clinical and
- Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.
+ Experimental Medicine, Prague, Czech Republic.
FAU - Viklicky, Ondrej
AU - Viklicky O
AUID- ORCID: 0000-0003-1049-2195
AD - Department of Nephrology, Transplant Centre, Institute for Clinical and
- Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.
+ Experimental Medicine, Prague, Czech Republic.
FAU - Papagregoriou, Gregory
AU - Papagregoriou G
AUID- ORCID: 0000-0002-2440-9789
-AD - Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking
+AD - Molecular Medicine Research Center, Biobank.cy Center of Excellence in Biobanking
and Biomedical Research, University of Cyprus, Nicosia, Cyprus.
FAU - Deltas, Constantinos
AU - Deltas C
AUID- ORCID: 0000-0001-5549-9169
-AD - Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking
+AD - Molecular Medicine Research Center, Biobank.cy Center of Excellence in Biobanking
and Biomedical Research, University of Cyprus, Nicosia, Cyprus.
AD - Medical School, University of Cyprus, Nicosia, Cyprus.
FAU - Stavrou, Christoforos
@@ -337,40 +346,47 @@ AD - Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CH
EPE, Lisbon, Portugal.
FAU - Blumenstiel, Brendan
AU - Blumenstiel B
-AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
FAU - Toledo, Diana
AU - Toledo D
AUID- ORCID: 0000-0002-7501-8286
-AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
FAU - DiStefano, Marina
AU - DiStefano M
-AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
FAU - DeFelice, Matthew
AU - DeFelice M
AUID- ORCID: 0009-0007-2481-8842
-AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
FAU - Zivna, Martina
AU - Zivna M
AUID- ORCID: 0000-0003-1968-824
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Bleyer, Anthony J Sr
AU - Bleyer AJ Sr
AUID- ORCID: 0000-0002-2804-5273
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
FAU - Kmoch, Stanislav
AU - Kmoch S
AUID- ORCID: 0000-0002-6239-707
AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
- North Carolina, USA.
+ North Carolina.
LA - eng
+GR - LUAUS24087/Ministry of Education, Youth and Sports of the Czech Republic/
+GR - MULTIOMICS_CZ (Programme Johannes Amos Comenius, Ministry of Education, Youth and
+ Sports of the Czech Republic,//ID Project CZ.02.01.01/00/23_020/0008540) -
+ Co-funded by the European Union/Ministry of Education, Youth and Sports of the
+ Czech Republic/
+GR - The National Center for Medical Genomics (LM2023067)/Ministry of Education, Youth
+ and Sports of the Czech Republic/
PT - Journal Article
DEP - 20260410
PL - United States
@@ -380,13 +396,22 @@ JID - 9013836
SB - IM
UOF - bioRxiv. 2025 Sep 16:2025.09.06.673538. doi: 10.1101/2025.09.06.673538. PMID:
41000883
+OTO - NOTNLM
+OT - CKD
+OT - endoplasmic reticulum
+OT - familial nephropathy
+OT - genetic kidney disease
+OT - kidney disease
+OT - molecular genetics
+OT - polymorphisms
+OT - tubulointerstitial disease
EDAT- 2026/04/10 18:33
MHDA- 2026/04/10 18:33
CRDT- 2026/04/10 12:03
PHST- 2025/08/27 00:00 [received]
PHST- 2026/04/06 00:00 [accepted]
-PHST- 2026/04/10 18:33 [medline]
PHST- 2026/04/10 18:33 [pubmed]
+PHST- 2026/04/10 18:33 [medline]
PHST- 2026/04/10 12:03 [entrez]
AID - 00001751-990000000-00988 [pii]
AID - 10.1681/ASN.0000001103 [doi]
@@ -396,9 +421,10 @@ SO - J Am Soc Nephrol. 2026 Apr 10. doi: 10.1681/ASN.0000001103.
PMID- 41832605
OWN - NLM
STAT- MEDLINE
-DCOM- 20260422
-LR - 20260531
+DCOM- 20260620
+LR - 20260620
IS - 1542-0086 (Electronic)
+IS - 0006-3495 (Print)
IS - 0006-3495 (Linking)
VI - 125
IP - 8
@@ -479,18 +505,23 @@ JID - 0370626
RN - 0 (Polysaccharides)
RN - 0 (Mucin-1)
RN - 0 (Ligands)
+RN - GZP2782OP0 (N-Acetylneuraminic Acid)
SB - IM
-MH - *Endocytosis
-MH - *Polysaccharides/metabolism/chemistry
+MH - *Endocytosis/drug effects
+MH - *Polysaccharides/chemistry/metabolism
MH - *Static Electricity
MH - Glycosylation
-MH - Humans
+MH - Animals
MH - Mucin-1/metabolism/chemistry
MH - Ligands
-MH - Animals
+MH - Humans
+MH - N-Acetylneuraminic Acid/chemistry/metabolism
+PMC - PMC13254909
+MID - NIHMS2167681
COIS- Declaration of interests The authors declare no competing interests.
EDAT- 2026/03/15 06:48
MHDA- 2026/04/23 00:31
+PMCR- 2026/06/11
CRDT- 2026/03/15 02:36
PHST- 2025/11/06 00:00 [received]
PHST- 2026/02/07 00:00 [revised]
@@ -498,6 +529,7 @@ PHST- 2026/03/10 00:00 [accepted]
PHST- 2026/04/23 00:31 [medline]
PHST- 2026/03/15 06:48 [pubmed]
PHST- 2026/03/15 02:36 [entrez]
+PHST- 2026/06/11 00:00 [pmc-release]
AID - S0006-3495(26)00198-0 [pii]
AID - 10.1016/j.bpj.2026.03.026 [doi]
PST - ppublish
@@ -506,8 +538,9 @@ SO - Biophys J. 2026 Apr 21;125(8):1941-1957. doi: 10.1016/j.bpj.2026.03.026. E
PMID- 41345522
OWN - NLM
-STAT- In-Process
-LR - 20260110
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
VI - 16
@@ -534,9 +567,7 @@ AB - Variable number tandem repeats (VNTRs) remain among the most challenging r
VNTR. We further demonstrate its applicability to whole-genome nanopore datasets.
Using our pipeline, it is now possible to completely analyze and characterize
VNTRs as well as detect disease-causing variants in a cost and time-efficient
- manner using amplicon-based nanopore sequencing. SUPPLEMENTARY INFORMATION: The
- online version contains supplementary material available at
- 10.1038/s41598-025-30441-3.
+ manner using amplicon-based nanopore sequencing.
FAU - Madritsch, Silvia
AU - Madritsch S
AUID- ORCID: 0000-0002-4995-7351
@@ -587,6 +618,13 @@ TA - Sci Rep
JT - Scientific reports
JID - 101563288
SB - IM
+MH - Humans
+MH - *Minisatellite Repeats/genetics
+MH - *Nanopore Sequencing/methods
+MH - Computational Biology/methods
+MH - Genome, Human
+MH - Sequence Analysis, DNA/methods
+MH - Alleles
PMC - PMC12780063
OTO - NOTNLM
OT - ACAN
@@ -601,13 +639,13 @@ COIS- Declarations. Competing interests: The authors declare no competing intere
participate: Informed consent was obtained from all the patients included in this
study.
EDAT- 2025/12/05 01:02
-MHDA- 2025/12/05 01:02
+MHDA- 2026/06/27 00:57
PMCR- 2025/12/04
CRDT- 2025/12/04 23:41
PHST- 2025/07/08 00:00 [received]
PHST- 2025/11/25 00:00 [accepted]
+PHST- 2026/06/27 00:57 [medline]
PHST- 2025/12/05 01:02 [pubmed]
-PHST- 2025/12/05 01:02 [medline]
PHST- 2025/12/04 23:41 [entrez]
PHST- 2025/12/04 00:00 [pmc-release]
AID - 10.1038/s41598-025-30441-3 [pii]
@@ -620,7 +658,7 @@ PMID- 41000883
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260421
-LR - 20260421
+LR - 20260602
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 Sep 16
@@ -1333,7 +1371,7 @@ PMID- 39576755
OWN - NLM
STAT- MEDLINE
DCOM- 20241210
-LR - 20251211
+LR - 20260623
IS - 1520-6882 (Electronic)
IS - 0003-2700 (Print)
IS - 0003-2700 (Linking)
@@ -1376,6 +1414,7 @@ AD - Department of Chemistry, University of Texas, Austin, Texas 78712, United
LA - eng
GR - R35 GM139658/GM/NIGMS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20241122
PL - United States
TA - Anal Chem
@@ -4830,7 +4869,7 @@ LA - eng
PT - Case Reports
PT - Journal Article
DEP - 20160304
-PL - Italy
+PL - England
TA - J Nephrol
JT - Journal of nephrology
JID - 9012268
@@ -5946,7 +5985,6 @@ STAT- MEDLINE
DCOM- 20140415
LR - 20250529
IS - 1432-0851 (Electronic)
-IS - 0340-7004 (Print)
IS - 0340-7004 (Linking)
VI - 63
IP - 2
@@ -6021,18 +6059,14 @@ MH - Neoplasms/immunology
MH - Peptide Fragments/*immunology
PMC - PMC6383519
MID - NIHMS1003634
-COIS- The authors declare that they have no conflicts of interest.
EDAT- 2013/11/16 06:00
MHDA- 2014/04/16 06:00
-PMCR- 2013/11/15
CRDT- 2013/11/16 06:00
PHST- 2013/07/19 00:00 [received]
PHST- 2013/10/19 00:00 [accepted]
PHST- 2013/11/16 06:00 [entrez]
PHST- 2013/11/16 06:00 [pubmed]
PHST- 2014/04/16 06:00 [medline]
-PHST- 2013/11/15 00:00 [pmc-release]
-AID - 1494 [pii]
AID - 10.1007/s00262-013-1494-7 [doi]
PST - ppublish
SO - Cancer Immunol Immunother. 2014 Feb;63(2):161-74. doi: 10.1007/s00262-013-1494-7.
diff --git a/data/literature/NOP56_batch_01.txt b/data/literature/NOP56_batch_01.txt
index 112ac3fd..e0045c28 100644
--- a/data/literature/NOP56_batch_01.txt
+++ b/data/literature/NOP56_batch_01.txt
@@ -1,4 +1,144 @@
+PMID- 42387149
+OWN - NLM
+STAT- Publisher
+LR - 20260701
+IS - 1435-232X (Electronic)
+IS - 1434-5161 (Linking)
+DP - 2026 Jul 1
+TI - Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive
+ core haplotype across populations.
+LID - 10.1038/s10038-026-01489-4 [doi]
+AB - Spinocerebellar ataxia type 36 (SCA36)-caused by a GGCCTG hexanucleotide repeat
+ expansion in the NOP56 gene-has traditionally been considered to originate from a
+ founder effect in the Ashida River basin of southern Japan. However, its genetic
+ background remains incompletely understood. In this study, we analyzed five
+ Japanese patients with SCA36 from four unrelated families using long-read
+ sequencing to determine repeat length and reconstruct detailed haplotypes around
+ the NOP56 locus. We successfully resolved extended haplotypes ranging from
+ approximately 90 kb to 1.3 Mb. All five individuals shared a 5.3-kb haplotype
+ adjacent to the repeat expansion, while four patients from northern Japan shared
+ a larger haplotype block of at least 95.2 kb. Comparison with seven previously
+ reported Korean SCA36 cases revealed a shared 4.2-kb haplotype, and available
+ data from other populations were concordant within a ~ 2.1-kb core region.
+ Notably, the shared 5.3-kb haplotype is relatively common in the general
+ population, suggesting that the underlying core haplotype may represent a
+ permissive haplotypic background rather than a unique founder haplotype. These
+ findings indicate that SCA36 is unlikely to be explained solely by a regional
+ founder in southern Japan. Instead, a shared permissive haplotypic background may
+ underlie repeat expansion, with large pathogenic expansion arising independently
+ in different populations. This pattern may be consistent with a stepwise process
+ of repeat expansion.
+CI - (c) 2026. The Author(s), under exclusive licence to The Japan Society of Human
+ Genetics.
+FAU - Eguchi, Katsuki
+AU - Eguchi K
+AUID- ORCID: 0000-0002-2988-2532
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan. k198762@pop.med.hokudai.ac.jp.
+AD - Department of Neurology, Faculty of Medicine and Graduate School of Medicine,
+ Hokkaido University, Sapporo, Japan. k198762@pop.med.hokudai.ac.jp.
+FAU - Miyatake, Satoko
+AU - Miyatake S
+AUID- ORCID: 0000-0001-7587-5168
+AD - Department of Human Genetics, Yokohama City University Graduate School of
+ Medicine, Yokohama, Japan.
+AD - Department of Neurogenetics, Molecular Neuroscience Research Center, Shiga
+ University of Medical Science, Otsu, Japan.
+AD - Department of Clinical Genetics, Yokohama City University Hospital, Yokohama,
+ Japan.
+FAU - Takei, Asako
+AU - Takei A
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Yaguchi, Hiroaki
+AU - Yaguchi H
+AD - Department of Neurology, Faculty of Medicine and Graduate School of Medicine,
+ Hokkaido University, Sapporo, Japan.
+FAU - Iida, Yuki
+AU - Iida Y
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Hamada, Shinsuke
+AU - Hamada S
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Ito, Yoshiko
+AU - Ito Y
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Honma, Sanae
+AU - Honma S
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Moriwaka, Fumio
+AU - Moriwaka F
+AD - Hokuyukai Neurological Hospital, Sapporo, Japan.
+FAU - Wada, Taishi
+AU - Wada T
+AD - Department of Neurology and Stroke Medicine, Yokohama City University Graduate
+ School of Medicine, Yokohama, Japan.
+FAU - Jono, Takashi
+AU - Jono T
+AD - Department of Neurology and Stroke Medicine, Yokohama City University Graduate
+ School of Medicine, Yokohama, Japan.
+AD - Department of Neurology, Yokohama Brain and Spine Center, Yokohama, Japan.
+FAU - Kunii, Misako
+AU - Kunii M
+AD - Department of Neurology, Yokohama City University Medical Center, Yokohama,
+ Japan.
+FAU - Komiya, Hiroyasu
+AU - Komiya H
+AD - Department of Neurology and Stroke Medicine, Yokohama City University Graduate
+ School of Medicine, Yokohama, Japan.
+FAU - Kishida, Hitaru
+AU - Kishida H
+AD - Department of Neurology, Yokohama Brain and Spine Center, Yokohama, Japan.
+AD - Department of Neurology, Yokohama City University Medical Center, Yokohama,
+ Japan.
+FAU - Doi, Hiroshi
+AU - Doi H
+AUID- ORCID: 0000-0001-5807-2523
+AD - Department of Neurology and Stroke Medicine, Yokohama City University Graduate
+ School of Medicine, Yokohama, Japan.
+FAU - Tanaka, Fumiaki
+AU - Tanaka F
+AUID- ORCID: 0000-0002-9961-2693
+AD - Department of Neurology and Stroke Medicine, Yokohama City University Graduate
+ School of Medicine, Yokohama, Japan.
+FAU - Matsumoto, Naomichi
+AU - Matsumoto N
+AUID- ORCID: 0000-0001-9846-6500
+AD - Department of Human Genetics, Yokohama City University Graduate School of
+ Medicine, Yokohama, Japan.
+AD - Department of Clinical Genetics, Yokohama City University Hospital, Yokohama,
+ Japan.
+AD - Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama,
+ Japan.
+AD - Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira,
+ Tokyo, Japan.
+FAU - Yabe, Ichiro
+AU - Yabe I
+AUID- ORCID: 0000-0002-1734-7997
+AD - Department of Neurology, Faculty of Medicine and Graduate School of Medicine,
+ Hokkaido University, Sapporo, Japan. yabe@med.hokudai.ac.jp.
+LA - eng
+GR - JP23K27520/MEXT | Japan Society for the Promotion of Science (JSPS)/
+GR - JP24K02230/MEXT | Japan Society for the Promotion of Science (JSPS)/
+GR - JP25ek0109674, JP25ek0109760, JP25ek0109617, JP25ek0109648, and
+ JP25ek0109677/Japan Agency for Medical Research and Development (AMED)/
+PT - Journal Article
+DEP - 20260701
+PL - England
+TA - J Hum Genet
+JT - Journal of human genetics
+JID - 9808008
+SB - IM
+COIS- Competing interests: The authors declare no competing interests.
+CRDT- 2026/07/01 23:46
+PHST- 2025/12/04 00:00 [received]
+PHST- 2026/06/18 00:00 [accepted]
+PHST- 2026/06/14 00:00 [revised]
+PHST- 2026/07/01 23:46 [entrez]
+AID - 10.1038/s10038-026-01489-4 [pii]
+AID - 10.1038/s10038-026-01489-4 [doi]
+PST - aheadofprint
+SO - J Hum Genet. 2026 Jul 1. doi: 10.1038/s10038-026-01489-4.
+
PMID- 42038259
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/NOTCH2NLC_batch_01.txt b/data/literature/NOTCH2NLC_batch_01.txt
index 9a1966a0..47627c15 100644
--- a/data/literature/NOTCH2NLC_batch_01.txt
+++ b/data/literature/NOTCH2NLC_batch_01.txt
@@ -1,9 +1,93 @@
+PMID- 42245955
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260605
+LR - 20260605
+IS - 2296-858X (Print)
+IS - 2296-858X (Electronic)
+IS - 2296-858X (Linking)
+VI - 13
+DP - 2026
+TI - Case Report: Neuronal intranuclear inclusion disease mimicking recurrent stroke
+ in the setting of intracranial stenosis.
+PG - 1838444
+LID - 10.3389/fmed.2026.1838444 [doi]
+LID - 1838444
+AB - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare, progressive
+ neurodegenerative disorder that can present with stroke-like episodes, posing a
+ significant diagnostic challenge. This difficulty is compounded when it coincides
+ with intracranial atherosclerotic stenosis, a common cause of recurrent stroke.
+ CASE PRESENTATION: We report the case of a 64-years-old woman without
+ conventional vascular risk factors who presented with a recurrent acute focal
+ neurological deficit-her sixth similar episode over 8 years, each previously
+ diagnosed as cerebral infarction. Brain magnetic resonance imaging (MRI) revealed
+ a new area of restricted diffusion in the right frontoparietal region and an
+ ipsilateral middle cerebral artery (MCA) M2 segment stenosis (>50%). Crucially, a
+ systematic review of the diffusion-weighted imaging (DWI) sequences identified
+ the pathognomonic linear hyperintensity along the corticomedullary junction,
+ known as the "ribbon sign," which is highly suggestive of NIID. Despite a
+ negative genetic test for the NOTCH2NLC GGC repeat expansion, the diagnosis was
+ confirmed by a minimally invasive skin biopsy, which demonstrated characteristic
+ non-membranous intranuclear inclusions on electron microscopy. CONCLUSION: We
+ highlight the imperative to recognize this specific and pathognomonic
+ neuroimaging pattern even in the presence of coincidental atherosclerosis.
+ Furthermore, we detail the systematic diagnostic approach when genetic testing is
+ unrevealing, emphasizing the pivotal role of targeted tissue biopsy in achieving
+ a definitive diagnosis. This report underscores the key learning points in
+ evaluating acute stroke mimics with atypical evolution.
+CI - Copyright (c) 2026 Zhao, Shen and Chi.
+FAU - Zhao, Jingmin
+AU - Zhao J
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+FAU - Shen, Guangxun
+AU - Shen G
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+FAU - Chi, Lumei
+AU - Chi L
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260520
+PL - Switzerland
+TA - Front Med (Lausanne)
+JT - Frontiers in medicine
+JID - 101648047
+PMC - PMC13229711
+OTO - NOTNLM
+OT - diffusion magnetic resonance imaging
+OT - intracranial atherosclerosis
+OT - neuronal intranuclear inclusion disease
+OT - skin biopsy
+OT - stroke mimics
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/06/05 06:36
+MHDA- 2026/06/05 06:37
+PMCR- 2026/05/20
+CRDT- 2026/06/05 05:09
+PHST- 2026/03/25 00:00 [received]
+PHST- 2026/05/05 00:00 [revised]
+PHST- 2026/05/07 00:00 [accepted]
+PHST- 2026/06/05 06:37 [medline]
+PHST- 2026/06/05 06:36 [pubmed]
+PHST- 2026/06/05 05:09 [entrez]
+PHST- 2026/05/20 00:00 [pmc-release]
+AID - 10.3389/fmed.2026.1838444 [doi]
+PST - epublish
+SO - Front Med (Lausanne). 2026 May 20;13:1838444. doi: 10.3389/fmed.2026.1838444.
+ eCollection 2026.
+
PMID- 42177789
OWN - NLM
STAT- MEDLINE
-DCOM- 20260524
-LR - 20260524
+DCOM- 20260624
+LR - 20260624
IS - 1943-7722 (Electronic)
IS - 0002-9173 (Linking)
VI - 165
@@ -84,9 +168,9 @@ RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - *Intranuclear Inclusion Bodies/pathology
-MH - Retrospective Studies
-MH - Male
MH - *Neurodegenerative Diseases/diagnosis/pathology/genetics
+MH - Male
+MH - Retrospective Studies
MH - Female
MH - Middle Aged
MH - Aged
@@ -113,7 +197,7 @@ PMID- 42058219
OWN - NLM
STAT- MEDLINE
DCOM- 20260430
-LR - 20260430
+LR - 20260623
IS - 1664-3224 (Electronic)
IS - 1664-3224 (Linking)
VI - 17
@@ -236,22 +320,20 @@ TA - Front Immunol
JT - Frontiers in immunology
JID - 101560960
RN - 0 (Cytokines)
-RN - 0 (Biomarkers)
+RN - 0 (Receptor, Notch2)
RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
+MH - Male
MH - Retrospective Studies
-MH - Aged
-MH - *Neurodegenerative Diseases/immunology/genetics/complications
+MH - Middle Aged
+MH - *Intranuclear Inclusion Bodies/immunology/genetics/pathology
MH - Cytokines/blood
-MH - *Intranuclear Inclusion Bodies/immunology/pathology/genetics
-MH - Adult
-MH - Trinucleotide Repeat Expansion
+MH - *Neurodegenerative Diseases/immunology/complications/genetics
+MH - Aged
MH - *Kidney Diseases/immunology
-MH - Biomarkers
+MH - Receptor, Notch2/genetics
PMC - PMC13120948
OTO - NOTNLM
OT - IL-17
@@ -284,7 +366,7 @@ PMID- 42033810
OWN - NLM
STAT- MEDLINE
DCOM- 20260425
-LR - 20260427
+LR - 20260622
IS - 1028-768X (Print)
IS - 1028-768X (Linking)
VI - 35
@@ -337,12 +419,11 @@ SB - IM
MH - Humans
MH - Female
MH - Aged
-MH - *Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications/diagnostic
- imaging/pathology
-MH - *Neurodegenerative Diseases/complications/diagnostic imaging/pathology
+MH - *Neurodegenerative Diseases/complications/pathology/diagnostic imaging
+MH - *Anti-N-Methyl-D-Aspartate Receptor
+ Encephalitis/complications/pathology/diagnostic imaging
MH - *Intranuclear Inclusion Bodies/pathology
MH - *Cerebral Cortex/pathology/diagnostic imaging
-MH - Diffusion Magnetic Resonance Imaging
MH - Magnetic Resonance Imaging
OTO - NOTNLM
OT - Anti-N-methyl-D-aspartate receptor
@@ -440,14 +521,18 @@ SO - Intern Med. 2026 Apr 21. doi: 10.2169/internalmedicine.6946-25.
PMID- 42015293
OWN - NLM
-STAT- Publisher
-LR - 20260422
+STAT- MEDLINE
+DCOM- 20260610
+LR - 20260616
IS - 1752-1947 (Electronic)
IS - 1752-1947 (Linking)
+VI - 20
+IP - 1
DP - 2026 Apr 21
TI - Overflow urinary incontinence as an early manifestation of neuronal intranuclear
inclusion disease (NIID): a case report.
LID - 10.1186/s13256-026-06049-0 [doi]
+LID - 312
AB - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare
neurodegenerative disorder with highly heterogeneous clinical manifestations,
often leading to misdiagnosis. Urinary incontinence as the initial and
@@ -486,13 +571,29 @@ AD - Department of Neurology, The Quzhou Affiliated Hospital of Wenzhou Medical
University, Quzhou People's Hospital, Quzhou, Zhejiang, China.
qz.dtt001@wmu.edu.cn.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20260421
PL - England
TA - J Med Case Rep
JT - Journal of medical case reports
JID - 101293382
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Neuronal intranuclear inclusion disease
SB - IM
+MH - Humans
+MH - Male
+MH - *Neurodegenerative Diseases/complications/genetics/diagnosis/physiopathology
+MH - *Urinary Incontinence/etiology/physiopathology
+MH - Intranuclear Inclusion Bodies/pathology/genetics
+MH - Aged
+MH - Diffusion Magnetic Resonance Imaging
+MH - Magnetic Resonance Imaging
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13235064
OTO - NOTNLM
OT - Case report
OT - Magnetic resonance imaging
@@ -509,17 +610,20 @@ COIS- Declarations. Ethics approval and consent to participate: Informed consent
Editor-in-Chief of this journal. Competing interests: The authors declare that
they have no conflict of interest.
EDAT- 2026/04/22 06:32
-MHDA- 2026/04/22 06:32
+MHDA- 2026/06/10 11:43
+PMCR- 2026/04/21
CRDT- 2026/04/22 00:29
PHST- 2026/01/06 00:00 [received]
PHST- 2026/02/24 00:00 [accepted]
-PHST- 2026/04/22 06:32 [medline]
+PHST- 2026/06/10 11:43 [medline]
PHST- 2026/04/22 06:32 [pubmed]
PHST- 2026/04/22 00:29 [entrez]
+PHST- 2026/04/21 00:00 [pmc-release]
AID - 10.1186/s13256-026-06049-0 [pii]
+AID - 6049 [pii]
AID - 10.1186/s13256-026-06049-0 [doi]
-PST - aheadofprint
-SO - J Med Case Rep. 2026 Apr 21. doi: 10.1186/s13256-026-06049-0.
+PST - epublish
+SO - J Med Case Rep. 2026 Apr 21;20(1):312. doi: 10.1186/s13256-026-06049-0.
PMID- 42005169
OWN - NLM
@@ -621,8 +725,9 @@ SO - Cureus. 2026 Mar 19;18(3):e105488. doi: 10.7759/cureus.105488. eCollection
PMID- 42001002
OWN - NLM
-STAT- In-Process
-LR - 20260531
+STAT- MEDLINE
+DCOM- 20260628
+LR - 20260630
IS - 1471-2377 (Electronic)
IS - 1471-2377 (Linking)
VI - 26
@@ -651,8 +756,7 @@ AB - Neuronal intranuclear inclusion disease (NIID) is a rare, progressive
repeat expansions do not necessarily exacerbate the severity or progression of
NIID. Although larger studies are warranted to confirm these findings, this
investigation broadens the clinical and genetic spectrum of NIID and provides new
- insights into its underlying pathogenesis. SUPPLEMENTARY INFORMATION: The online
- version contains supplementary material available at 10.1186/s12883-026-04898-2.
+ insights into its underlying pathogenesis.
FAU - Zhang, Hang
AU - Zhang H
AD - Department of Neurology, The First Affiliated Hospital of Zhengzhou University,
@@ -729,13 +833,30 @@ LA - eng
GR - U1904207/the National Natural Science Foundation of China/
GR - 2020-PT310-01/the Non-profit Central Research Institute Fund of Chinese Academy
of Medical Sciences/
+PT - Case Reports
PT - Journal Article
DEP - 20260418
PL - England
TA - BMC Neurol
JT - BMC neurology
JID - 100968555
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Neuronal intranuclear inclusion disease
SB - IM
+MH - Humans
+MH - *Neurodegenerative Diseases/genetics/physiopathology/complications
+MH - Male
+MH - Female
+MH - *Intranuclear Inclusion Bodies/genetics/pathology
+MH - *Demyelinating Diseases/genetics/physiopathology
+MH - Pedigree
+MH - *Peripheral Nervous System Diseases/genetics/physiopathology
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Middle Aged
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
PMC - PMC13220522
OTO - NOTNLM
OT - NIID
@@ -755,13 +876,13 @@ COIS- Declarations. Ethics approval and consent to participate: Ethical approval
informed consent for such publication was additionally obtained from their legal
guardians. Competing interests: The authors declare no competing interests.
EDAT- 2026/04/19 13:11
-MHDA- 2026/04/19 13:11
+MHDA- 2026/06/28 13:04
PMCR- 2026/04/18
CRDT- 2026/04/18 23:23
PHST- 2025/10/16 00:00 [received]
PHST- 2026/04/09 00:00 [accepted]
+PHST- 2026/06/28 13:04 [medline]
PHST- 2026/04/19 13:11 [pubmed]
-PHST- 2026/04/19 13:11 [medline]
PHST- 2026/04/18 23:23 [entrez]
PHST- 2026/04/18 00:00 [pmc-release]
AID - 10.1186/s12883-026-04898-2 [pii]
@@ -774,7 +895,7 @@ PMID- 41964975
OWN - NLM
STAT- MEDLINE
DCOM- 20260411
-LR - 20260417
+LR - 20260621
IS - 1941-5923 (Electronic)
IS - 1941-5923 (Linking)
VI - 27
@@ -841,19 +962,16 @@ JID - 101489566
RN - 0 (NOTCH2NLC protein, human)
RN - 0 (Nerve Tissue Proteins)
RN - 0 (Intercellular Signaling Peptides and Proteins)
-RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - Female
+MH - *Macular Edema/genetics/drug therapy/diagnosis
MH - Adult
-MH - *Macular Edema/genetics/diagnosis/drug therapy
-MH - Tomography, Optical Coherence
MH - Recurrence
+MH - Tomography, Optical Coherence
MH - Fluorescein Angiography
MH - Mutation
-MH - Intranuclear Inclusion Bodies/genetics
MH - Nerve Tissue Proteins
-MH - Neurodegenerative Diseases
MH - Intercellular Signaling Peptides and Proteins
PMC - PMC13081752
COIS- Conflict of interest: None declared
@@ -872,14 +990,18 @@ SO - Am J Case Rep. 2026 Apr 11;27:e951749. doi: 10.12659/AJCR.951749.
PMID- 41942455
OWN - NLM
-STAT- Publisher
-LR - 20260406
+STAT- MEDLINE
+DCOM- 20260610
+LR - 20260610
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
+VI - 17
+IP - 1
DP - 2026 Apr 7
TI - ASO therapy rescues NOTCH2NLC GGC repeat expansion-induced genomic damage, 3D
chromatin structural abnormalities, and senescence.
LID - 10.1038/s41467-026-71516-7 [doi]
+LID - 4925
AB - Neuronal intranuclear inclusion disease is caused by abnormal GGC repeat
expansion in the NOTCH2NLC gene, though its pathogenic mechanism remains
incompletely understood. This study shows that the abnormally expanded polyG-uN2C
@@ -1038,7 +1160,20 @@ PL - England
TA - Nat Commun
JT - Nature communications
JID - 101528555
+RN - 0 (Chromatin)
+RN - 0 (Oligonucleotides, Antisense)
+RN - 0 (DNA-Binding Proteins)
SB - IM
+MH - *Cellular Senescence/genetics/drug effects
+MH - *DNA Damage/genetics
+MH - *Chromatin/metabolism/genetics
+MH - Humans
+MH - *Oligonucleotides, Antisense/pharmacology/genetics/therapeutic use
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - Animals
+MH - DNA-Binding Proteins/genetics/metabolism
+MH - Neurons/metabolism/pathology
+PMC - PMC13233821
COIS- Competing interests: The authors declare the following competing interests: a
Chinese patent application related to the ASOs and their use in treating NIID has
been filed by the First Affiliated Hospital of Zhengzhou University. The
@@ -1047,23 +1182,26 @@ COIS- Competing interests: The authors declare the following competing interests
and their therapeutic applications described in this manuscript. All other
authors declare no competing interests.
EDAT- 2026/04/07 00:31
-MHDA- 2026/04/07 00:31
+MHDA- 2026/06/10 11:44
+PMCR- 2026/04/07
CRDT- 2026/04/06 23:13
PHST- 2025/04/30 00:00 [received]
PHST- 2026/03/18 00:00 [accepted]
-PHST- 2026/04/07 00:31 [medline]
+PHST- 2026/06/10 11:44 [medline]
PHST- 2026/04/07 00:31 [pubmed]
PHST- 2026/04/06 23:13 [entrez]
+PHST- 2026/04/07 00:00 [pmc-release]
AID - 10.1038/s41467-026-71516-7 [pii]
+AID - 71516 [pii]
AID - 10.1038/s41467-026-71516-7 [doi]
-PST - aheadofprint
-SO - Nat Commun. 2026 Apr 7. doi: 10.1038/s41467-026-71516-7.
+PST - epublish
+SO - Nat Commun. 2026 Apr 7;17(1):4925. doi: 10.1038/s41467-026-71516-7.
PMID- 41929501
OWN - NLM
STAT- MEDLINE
-DCOM- 20260403
-LR - 20260403
+DCOM- 20260621
+LR - 20260621
IS - 1664-3224 (Electronic)
IS - 1664-3224 (Linking)
VI - 17
@@ -1139,11 +1277,12 @@ SB - IM
MH - Humans
MH - Female
MH - Middle Aged
-MH - *Vomiting/drug therapy/etiology/diagnosis
-MH - *Nausea/drug therapy/etiology/diagnosis
MH - *Adrenal Cortex Hormones/therapeutic use
-MH - Intranuclear Inclusion Bodies/pathology
-MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications/genetics
+MH - *Nausea/drug therapy/etiology/diagnosis
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications
+MH - *Vomiting/drug therapy/etiology/diagnosis
+MH - Treatment Outcome
PMC - PMC13039027
OTO - NOTNLM
OT - NIID
@@ -1173,8 +1312,9 @@ SO - Front Immunol. 2026 Mar 18;17:1782547. doi: 10.3389/fimmu.2026.1782547.
PMID- 41888971
OWN - NLM
-STAT- In-Process
-LR - 20260329
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -1213,8 +1353,7 @@ AB - BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a hereditary muscle dis
allele-specific flanking sequences, and the combined effects of repeat size and
methylation contribute to patient regional frequency, repeat stability, and
clinical variability, respectively, offering insight into disease pathomechanism
- and potential therapeutic targets. SUPPLEMENTARY INFORMATION: The online version
- contains supplementary material available at 10.1186/s13073-026-01617-x.
+ and potential therapeutic targets.
FAU - Eura, Nobuyuki
AU - Eura N
AD - Department of Neuromuscular Research, National Institute of Neuroscience,
@@ -1279,7 +1418,28 @@ PL - England
TA - Genome Med
JT - Genome medicine
JID - 101475844
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Adaptor Proteins, Signal Transducing)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Oculopharyngodistal Myopathy
SB - IM
+MH - Humans
+MH - *DNA Methylation
+MH - *Trinucleotide Repeat Expansion
+MH - Haplotypes
+MH - *Muscular Dystrophies/genetics
+MH - Male
+MH - Female
+MH - Adaptor Proteins, Signal Transducing/genetics
+MH - Phenotype
+MH - Adult
+MH - Genetic Association Studies
+MH - Adolescent
+MH - CpG Islands
+MH - Child
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
PMC - PMC13023157
OTO - NOTNLM
OT - Epigenomic modification
@@ -1295,12 +1455,12 @@ COIS- Declarations. Ethics approval and consent to participate: All patients pro
in this study was obtained from all participants. Competing interests: The
authors declare no competing interests.
EDAT- 2026/03/27 07:14
-MHDA- 2026/03/27 07:14
+MHDA- 2026/06/27 18:39
PMCR- 2026/03/27
CRDT- 2026/03/27 01:15
PHST- 2025/07/15 00:00 [received]
PHST- 2026/03/02 00:00 [accepted]
-PHST- 2026/03/27 07:14 [medline]
+PHST- 2026/06/27 18:39 [medline]
PHST- 2026/03/27 07:14 [pubmed]
PHST- 2026/03/27 01:15 [entrez]
PHST- 2026/03/27 00:00 [pmc-release]
@@ -1427,124 +1587,11 @@ AID - 10.1038/s10038-026-01470-1 [doi]
PST - aheadofprint
SO - J Hum Genet. 2026 Mar 26. doi: 10.1038/s10038-026-01470-1.
-PMID- 41862851
-OWN - NLM
-STAT- In-Process
-LR - 20260501
-IS - 1471-2377 (Electronic)
-IS - 1471-2377 (Linking)
-VI - 26
-IP - 1
-DP - 2026 Mar 20
-TI - Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a
- case report and literature review.
-LID - 10.1186/s12883-026-04833-5 [doi]
-LID - 286
-AB - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is an extremely rare,
- slowly progressive neurodegenerative disorder characterized by episodic
- neurological and psychiatric symptoms. Diagnosis is challenging due to
- non-specific presentations, often leading to misdiagnosis. Key diagnostic
- features include characteristic diffusion-weighted imaging (DWI) abnormalities,
- eosinophilic intranuclear inclusions on skin biopsy, and GGC repeat expansions in
- the NOTCH2NLC gene. CASE PRESENTATION: A 56-year-old woman presented with acute
- onset confusion, disorientation, personality changes (inappropriate verbal
- outbursts), and aimless wandering. Symptoms were episodic and fluctuating. Past
- history included a right hemispheric ischemic stroke with residual hemiparesis,
- type 2 diabetes mellitus, and organophosphate poisoning. Initial admission
- diagnosis was "metabolic encephalopathy." Serial brain MRI+DWI over 3 years
- consistently showed symmetric hyperintensity on DWI along the corticomedullary
- junction in bilateral fronto-parieto-temporal white matter, semioval centers, and
- corpus callosum (ribbon sign). Cerebrospinal fluid analysis showed normal protein
- levels and lymphocytic pleocytosis (118.80 cells/muL). Episodic cognitive
- fluctuations persisted despite standard medical management. Given the
- characteristic DWI findings and clinical course, NIID was suspected. Genetic
- testing confirmed a pathogenic heterozygous NOTCH2NLC GGC repeat expansion
- (n=16/101 repeats). Skin biopsy and EMG were declined. Family history revealed a
- daughter with suspected cognitive issues. A diagnosis of NIID was confirmed.
- CONCLUSIONS: This report details the first genetically confirmed case of NIID in
- our region, presenting primarily with episodic psychiatric symptoms. It
- highlights the diagnostic challenge and the critical role of recognizing the
- characteristic DWI ribbon sign and performing genetic testing for NOTCH2NLC
- expansions, especially in cases with unexplained episodic neuropsychiatric
- decline. Increased awareness and accessibility of genetic testing will likely
- lead to more frequent diagnosis of NIID in China.
-FAU - Ye, Linsen
-AU - Ye L
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Xu, Yue
-AU - Xu Y
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Meng, Shuqing
-AU - Meng S
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Gao, Genshan
-AU - Gao G
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Liu, Yao
-AU - Liu Y
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Ding, Boyuan
-AU - Ding B
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China.
-FAU - Liu, Nannuan
-AU - Liu N
-AD - Department of Neurology Inpatient Unit 2, Renmin Hospital, Hubei University of
- Medicine, Shiyan, Hubei, 442000, China. ylsyyall@126.com.
-AD - Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, 442000, China.
- ylsyyall@126.com.
-LA - eng
-PT - Journal Article
-DEP - 20260320
-PL - England
-TA - BMC Neurol
-JT - BMC neurology
-JID - 100968555
-SB - IM
-PMC - PMC13126855
-OTO - NOTNLM
-OT - Case Report
-OT - Diffusion-Weighted Imaging (DWI)
-OT - GGC Repeat Expansion
-OT - NOTCH2NLC
-OT - Neuronal Intranuclear Inclusion Disease (NIID)
-OT - Ribbon Sign
-COIS- Declarations. Ethics approval and consent to participate: All experimental
- protocols were approved by the Ethics Committee of Shiyan People's Hospital.
- Informed consent was obtained from all the participants. All methods were carried
- out in accordance with Declaration of Helsinki. Consent for publication: Written
- informed consent for the publication of the patient's clinical details and all
- accompanying clinical images has been obtained from the patient's family members.
- The legal guardians have been fully informed about the nature and scope of the
- publication, including the potential use and dissemination of the clinical
- information and images, and have provided explicit written authorization for such
- publication. Competing interests: The authors declare no competing interests.
-EDAT- 2026/03/21 06:30
-MHDA- 2026/03/21 06:30
-PMCR- 2026/03/20
-CRDT- 2026/03/21 00:32
-PHST- 2025/07/10 00:00 [received]
-PHST- 2026/03/16 00:00 [accepted]
-PHST- 2026/03/21 06:30 [pubmed]
-PHST- 2026/03/21 06:30 [medline]
-PHST- 2026/03/21 00:32 [entrez]
-PHST- 2026/03/20 00:00 [pmc-release]
-AID - 10.1186/s12883-026-04833-5 [pii]
-AID - 4833 [pii]
-AID - 10.1186/s12883-026-04833-5 [doi]
-PST - epublish
-SO - BMC Neurol. 2026 Mar 20;26(1):286. doi: 10.1186/s12883-026-04833-5.
-
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -1617,13 +1664,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
@@ -1659,8 +1716,8 @@ SO - Acta Neuropathol Commun. 2026 Mar 6;14(1):90. doi: 10.1186/s40478-026-0227
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -1834,18 +1891,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -2095,8 +2150,9 @@ SO - Cell Biosci. 2026 Feb 23;16(1):37. doi: 10.1186/s13578-026-01542-x.
PMID- 41688968
OWN - NLM
-STAT- In-Process
-LR - 20260323
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1471-2377 (Electronic)
IS - 1471-2377 (Linking)
VI - 26
@@ -2144,13 +2200,24 @@ AD - Department of Neurology, The Second Affiliated Hospital, Zhejiang Universi
AD - State Key Laboratory of Transvascular Implantation Devices, Hangzhou, 310009,
China. qingqingtao@zju.edu.cn.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20260213
PL - England
TA - BMC Neurol
JT - BMC neurology
JID - 100968555
+RN - Neuronal intranuclear inclusion disease
SB - IM
+MH - Humans
+MH - Male
+MH - *MELAS Syndrome/diagnosis/genetics
+MH - Middle Aged
+MH - *Neurodegenerative Diseases/diagnosis/genetics/pathology/diagnostic imaging
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - Diagnosis, Differential
+MH - Brain/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
PMC - PMC13005549
OTO - NOTNLM
OT - Cognitive impairment
@@ -2166,13 +2233,13 @@ COIS- Declarations. Ethics approval and consent to participate: Informed consent
report was obtained from the patient's legal guardian. Competing interests: The
authors declare no competing interests.
EDAT- 2026/02/14 05:30
-MHDA- 2026/02/14 05:30
+MHDA- 2026/06/28 00:36
PMCR- 2026/02/13
CRDT- 2026/02/13 23:58
PHST- 2025/12/14 00:00 [received]
PHST- 2026/02/02 00:00 [accepted]
+PHST- 2026/06/28 00:36 [medline]
PHST- 2026/02/14 05:30 [pubmed]
-PHST- 2026/02/14 05:30 [medline]
PHST- 2026/02/13 23:58 [entrez]
PHST- 2026/02/13 00:00 [pmc-release]
AID - 10.1186/s12883-026-04705-y [pii]
@@ -2185,7 +2252,7 @@ PMID- 41634634
OWN - NLM
STAT- MEDLINE
DCOM- 20260306
-LR - 20260306
+LR - 20260611
IS - 1471-2377 (Electronic)
IS - 1471-2377 (Linking)
VI - 26
@@ -2237,18 +2304,21 @@ JT - BMC neurology
JID - 100968555
RN - 46627O600J (Levodopa)
RN - 0 (Antiparkinson Agents)
-RN - 762OS3ZEJU (Benserazide)
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - Female
+MH - *Levodopa/adverse effects/therapeutic use
MH - Aged
-MH - *Levodopa/adverse effects
-MH - *Parkinsonian Disorders/drug therapy/genetics/complications/diagnosis
-MH - *Neurodegenerative Diseases/diagnosis/genetics/drug therapy/complications
+MH - *Parkinsonian Disorders/drug therapy/genetics/complications/diagnostic imaging
MH - Intranuclear Inclusion Bodies/pathology
+MH - *Neurodegenerative Diseases/diagnosis/genetics/diagnostic imaging/complications
MH - *Antiparkinson Agents/adverse effects
-MH - Benserazide/adverse effects
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
PMC - PMC12954951
OTO - NOTNLM
OT - NOTCH2NLC
@@ -2284,8 +2354,8 @@ SO - BMC Neurol. 2026 Feb 3;26(1):145. doi: 10.1186/s12883-026-04696-w.
PMID- 41556371
OWN - NLM
STAT- MEDLINE
-DCOM- 20260120
-LR - 20260120
+DCOM- 20260630
+LR - 20260630
IS - 1471-4159 (Electronic)
IS - 0022-3042 (Linking)
VI - 170
@@ -2400,15 +2470,14 @@ RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - *Oxidative Stress/physiology
-MH - Female
-MH - Male
-MH - Proteomics/methods
-MH - *Mitochondria/metabolism/pathology
MH - *Autophagy/physiology
+MH - *Mitochondria/metabolism/pathology/genetics
MH - *Neurodegenerative Diseases/metabolism/pathology/genetics
+MH - *Proteomics/methods
+MH - Male
+MH - Female
+MH - *Intranuclear Inclusion Bodies/pathology/metabolism/genetics
MH - Middle Aged
-MH - *Sweat Glands/metabolism/pathology
-MH - *Intranuclear Inclusion Bodies/pathology/metabolism
MH - Aged
MH - Adult
OTO - NOTNLM
@@ -2432,8 +2501,9 @@ SO - J Neurochem. 2026 Jan;170(1):e70352. doi: 10.1111/jnc.70352.
PMID- 41539185
OWN - NLM
-STAT- In-Process
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 124
@@ -2676,25 +2746,23 @@ JT - EBioMedicine
JID - 101647039
RN - 0 (tau Proteins)
RN - 0 (Biomarkers)
-RN - 0 (Amyloid beta-Peptides)
-RN - 0 (MAPT protein, human)
RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - *tau Proteins/blood
-MH - Male
MH - Female
-MH - *Biomarkers/blood
-MH - Aged
+MH - Biomarkers/blood
+MH - Male
MH - *Neurodegenerative Diseases/blood/diagnosis
+MH - Aged
MH - Middle Aged
MH - *Intranuclear Inclusion Bodies/pathology/metabolism
-MH - Alzheimer Disease/blood/diagnosis
-MH - Positron-Emission Tomography
MH - Magnetic Resonance Imaging
-MH - Amyloid beta-Peptides/blood
-MH - Phosphorylation
+MH - Positron-Emission Tomography
+MH - Alzheimer Disease/blood/diagnosis
MH - Aged, 80 and over
+MH - Phosphorylation
+MH - Case-Control Studies
PMC - PMC12830138
OTO - NOTNLM
OT - GFAP
@@ -2725,8 +2793,9 @@ SO - EBioMedicine. 2026 Feb;124:106127. doi: 10.1016/j.ebiom.2026.106127. Epub
PMID- 41526374
OWN - NLM
-STAT- In-Process
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -2887,19 +2956,19 @@ RN - 0 (Nerve Tissue Proteins)
RN - 0 (Intercellular Signaling Peptides and Proteins)
RN - Neuronal intranuclear inclusion disease
SB - IM
-MH - Humans
MH - Animals
+MH - Humans
MH - *CRISPR-Cas Systems/genetics
MH - Mice
+MH - *Intranuclear Inclusion Bodies/genetics/pathology
MH - *Gene Editing/methods
-MH - *Intranuclear Inclusion Bodies/genetics/pathology/metabolism
-MH - *Neurodegenerative Diseases/genetics/therapy/pathology
+MH - Mice, Transgenic
MH - *Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - Mice, Transgenic
MH - *Receptor, Notch2/genetics
-MH - Cell Line
-MH - Male
+MH - *Neurodegenerative Diseases/genetics/therapy
+MH - Induced Pluripotent Stem Cells/metabolism
+MH - Neurons/metabolism/pathology
MH - Nerve Tissue Proteins
MH - Intercellular Signaling Peptides and Proteins
PMC - PMC12909857
@@ -3664,7 +3733,7 @@ PMID- 40708231
OWN - NLM
STAT- MEDLINE
DCOM- 20251118
-LR - 20260127
+LR - 20260613
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -3758,6 +3827,7 @@ GR - 112-2314-B-075-034-MY3/National Science and Technology Council/
GR - 112-2314-B-075-057/National Science and Technology Council/
GR - CMRPG3L1651/Chang Gung Memorial Hospital/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250724
PL - United States
TA - Ann Clin Transl Neurol
@@ -4738,7 +4808,7 @@ PMID- 40267536
OWN - NLM
STAT- MEDLINE
DCOM- 20250611
-LR - 20250612
+LR - 20260604
IS - 1876-7753 (Electronic)
IS - 1873-5061 (Linking)
VI - 86
@@ -4803,6 +4873,7 @@ AD - Department of Neurology, Pusan National University Yangsan Hospital, Pusan
LA - eng
PT - Case Reports
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250416
PL - England
TA - Stem Cell Res
diff --git a/data/literature/PABPN1_batch_01.txt b/data/literature/PABPN1_batch_01.txt
index 3b8983cb..bb987127 100644
--- a/data/literature/PABPN1_batch_01.txt
+++ b/data/literature/PABPN1_batch_01.txt
@@ -1,9 +1,81 @@
+PMID- 42387033
+OWN - NLM
+STAT- Publisher
+LR - 20260701
+IS - 1432-1920 (Electronic)
+IS - 0028-3940 (Linking)
+DP - 2026 Jul 2
+TI - Frontotemporal lobar degeneration in a patient carrying a pathogenic PABPN1
+ expansion.
+LID - 10.1007/s00234-026-04100-x [doi]
+AB - BACKGROUND: Expansions in PABPN1 cause oculopharyngeal muscular dystrophy (OPMD),
+ a disorder classically characterized by ptosis, dysphagia, and proximal limb
+ weakness. Cognitive impairment and frontotemporal dysfunction have been reported
+ in selected patients with OPMD, but the relationship between heterozygous PABPN1
+ expansions and frontotemporal lobar degeneration (FTLD) remains uncertain. CASE
+ PRESENTATION: We report a 69-year-old man with progressive language-predominant
+ cognitive decline and asymmetric left anterior temporal and frontoparietal
+ atrophy who was found to carry a heterozygous pathogenic PABPN1 expansion
+ [c.30_32dup, p.Ala11dup]. CONCLUSION: Because classical neuromuscular
+ manifestations of OPMD were absent, this case is best interpreted as FTLD
+ occurring in a patient carrying a pathogenic PABPN1 expansion rather than as
+ definitive OPMD-related neurodegeneration.
+CI - (c) 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany,
+ part of Springer Nature.
+FAU - Harahsheh, Ehab Y
+AU - Harahsheh EY
+AD - Mayo Clinic, Scottsdale, USA.
+FAU - Olarewaju, Bukola A
+AU - Olarewaju BA
+AD - University of Dundee, Dundee, UK.
+FAU - Asif, Misha B
+AU - Asif MB
+AD - Mayo Clinic, Scottsdale, USA.
+FAU - Woodruff, Bryan K
+AU - Woodruff BK
+AD - Mayo Clinic, Scottsdale, USA.
+FAU - Osundiji, Mayowa A
+AU - Osundiji MA
+AD - Mayo Clinic, Scottsdale, USA. osundiji.mayowa@mayo.edu.
+LA - eng
+PT - Journal Article
+DEP - 20260702
+PL - Germany
+TA - Neuroradiology
+JT - Neuroradiology
+JID - 1302751
+SB - IM
+OTO - NOTNLM
+OT - PABPN1
+OT - Degeneration
+OT - Frontoparietal
+OT - Frontotemporal
+OT - OPMD
+COIS- Declarations. Ethics: This study was conducted in accordance with the principles
+ of the Declaration of Helsinki. Approval was obtained from the Institutional
+ Review Board (IRB) of Mayo Clinic. Written informed consent was obtained from all
+ participants (or their legally authorized representatives). All patient data were
+ anonymized prior to analysis, and no identifiable information is included in this
+ manuscript. Competing interests: The authors declare no competing interests.
+EDAT- 2026/07/02 00:33
+MHDA- 2026/07/02 00:33
+CRDT- 2026/07/01 23:43
+PHST- 2026/07/02 00:33 [medline]
+PHST- 2026/07/02 00:33 [pubmed]
+PHST- 2025/09/10 00:00 [received]
+PHST- 2026/06/26 00:00 [accepted]
+PHST- 2026/07/01 23:43 [entrez]
+AID - 10.1007/s00234-026-04100-x [pii]
+AID - 10.1007/s00234-026-04100-x [doi]
+PST - aheadofprint
+SO - Neuroradiology. 2026 Jul 2. doi: 10.1007/s00234-026-04100-x.
+
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -156,8 +228,9 @@ SO - Int J Mol Sci. 2026 May 13;27(10):4345. doi: 10.3390/ijms27104345.
PMID- 42157275
OWN - NLM
-STAT- In-Process
-LR - 20260522
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 21
@@ -278,7 +351,21 @@ PL - England
TA - Orphanet J Rare Dis
JT - Orphanet journal of rare diseases
JID - 101266602
+RN - 0 (PABPN1 protein, human)
+RN - 0 (Poly(A)-Binding Protein I)
SB - IM
+MH - Humans
+MH - *Muscular Dystrophy, Oculopharyngeal/genetics/pathology
+MH - Male
+MH - Female
+MH - Israel
+MH - Middle Aged
+MH - Retrospective Studies
+MH - Poly(A)-Binding Protein I/genetics
+MH - Adult
+MH - Genotype
+MH - Aged
+MH - Jews/genetics
PMC - PMC13188457
OTO - NOTNLM
OT - PABPN1
@@ -294,12 +381,12 @@ COIS- Declarations. Ethics approval and consent to participate: The SMC Institut
was required. Competing interests: The authors declare that they have no
competing interests.
EDAT- 2026/05/20 06:32
-MHDA- 2026/05/20 06:32
+MHDA- 2026/06/27 18:38
PMCR- 2026/05/19
CRDT- 2026/05/20 00:16
PHST- 2025/12/18 00:00 [received]
PHST- 2026/03/06 00:00 [accepted]
-PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/06/27 18:38 [medline]
PHST- 2026/05/20 06:32 [pubmed]
PHST- 2026/05/20 00:16 [entrez]
PHST- 2026/05/19 00:00 [pmc-release]
@@ -312,8 +399,8 @@ SO - Orphanet J Rare Dis. 2026 May 19;21(1):203. doi: 10.1186/s13023-026-04313-
PMID- 41764774
OWN - NLM
STAT- MEDLINE
-DCOM- 20260410
-LR - 20260410
+DCOM- 20260612
+LR - 20260612
IS - 1098-2744 (Electronic)
IS - 0899-1987 (Linking)
VI - 65
@@ -401,26 +488,25 @@ TA - Mol Carcinog
JT - Molecular carcinogenesis
JID - 8811105
RN - 0 (LRIG1 protein, human)
-RN - EC 2.7.10.1 (ErbB Receptors)
RN - 0 (Biomarkers, Tumor)
+RN - EC 2.7.10.1 (ErbB Receptors)
RN - 0 (Membrane Glycoproteins)
RN - EC 2.7.10.1 (EGFR protein, human)
SB - IM
MH - Humans
-MH - *Mouth Neoplasms/pathology/metabolism/genetics/mortality
-MH - Male
+MH - *Mouth Neoplasms/pathology/metabolism/genetics
MH - Female
-MH - Middle Aged
-MH - *ErbB Receptors/metabolism/genetics
-MH - *Biomarkers, Tumor/metabolism/genetics
MH - Prognosis
-MH - *Carcinoma, Squamous Cell/pathology/metabolism/genetics/mortality
-MH - Aged
-MH - *Membrane Glycoproteins/metabolism/genetics
+MH - *Biomarkers, Tumor/genetics/metabolism
+MH - *ErbB Receptors/genetics/metabolism
+MH - *Carcinoma, Squamous Cell/pathology/metabolism/genetics
+MH - Male
+MH - *Membrane Glycoproteins/genetics/metabolism
+MH - Middle Aged
MH - Retrospective Studies
+MH - Aged
MH - Adult
MH - Gene Expression Regulation, Neoplastic
-MH - Aged, 80 and over
OTO - NOTNLM
OT - EGFR
OT - LRIG1
@@ -519,8 +605,8 @@ SO - Open Respir Arch. 2026 Jan 15;8(2):100580. doi: 10.1016/j.opresp.2026.1005
PMID- 41587185
OWN - NLM
STAT- MEDLINE
-DCOM- 20260130
-LR - 20260202
+DCOM- 20260701
+LR - 20260701
IS - 1553-7404 (Electronic)
IS - 1553-7390 (Print)
IS - 1553-7390 (Linking)
@@ -597,14 +683,12 @@ MH - *Muscular Dystrophy, Oculopharyngeal/genetics/metabolism/pathology
MH - *Poly(A)-Binding Protein I/genetics/metabolism
MH - Humans
MH - Proteomics/methods
+MH - Polyadenylation/genetics
+MH - *Alanine/genetics
MH - Animals
-MH - Cell Nucleus/genetics/metabolism
MH - Muscle, Skeletal/metabolism/pathology
-MH - Alanine/genetics
-MH - Muscle Fibers, Skeletal/metabolism/pathology
-MH - Mice
+MH - Cell Nucleus/genetics/metabolism
MH - RNA-Binding Proteins/genetics
-MH - Polyadenylation/genetics
PMC - PMC12858073
COIS- The authors have declared that no competing interests exist.
EDAT- 2026/01/26 18:28
@@ -1021,7 +1105,7 @@ PMID- 39113268
OWN - NLM
STAT- MEDLINE
DCOM- 20241002
-LR - 20241005
+LR - 20260628
IS - 2190-6009 (Electronic)
IS - 2190-5991 (Print)
IS - 2190-5991 (Linking)
@@ -1155,6 +1239,7 @@ GR - EQUIPE FRM EQU201903007784/Fondation Recherche Medicale/
GR - ANR-18-HDHL-0002-05/Agence Nationale pour la recherche/
GR - Association Institut de Myologie/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240807
PL - Germany
TA - J Cachexia Sarcopenia Muscle
@@ -1200,7 +1285,7 @@ PMID- 38165364
OWN - NLM
STAT- MEDLINE
DCOM- 20240103
-LR - 20240603
+LR - 20260603
IS - 1526-632X (Electronic)
IS - 0028-3878 (Print)
IS - 0028-3878 (Linking)
@@ -1300,6 +1385,7 @@ AD - From the Departments of Rehabilitation (R.H.M.J.M.K., J.G.K., B.J.M.d.S.)
(C.G.C.H.), Medical University of Innsbruck, Austria.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231214
PL - United States
TA - Neurology
diff --git a/data/literature/PHOX2B_batch_01.txt b/data/literature/PHOX2B_batch_01.txt
index 954e878f..8a5c2e54 100644
--- a/data/literature/PHOX2B_batch_01.txt
+++ b/data/literature/PHOX2B_batch_01.txt
@@ -1,4 +1,91 @@
+PMID- 42344868
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260625
+LR - 20260625
+IS - 2157-6998 (Print)
+IS - 2157-7005 (Electronic)
+IS - 2157-7005 (Linking)
+VI - 16
+IP - 2
+DP - 2026 Apr
+TI - Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome:
+ Improved Outcome through Early Multidisciplinary Intervention.
+PG - e105-e108
+LID - 10.1055/a-2873-6868 [doi]
+AB - Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic
+ disorder that causes alveolar hypoventilation because of impaired chemoreceptor
+ response to hypercapnia and hypoxia occurring due to a dysfunctional central
+ autonomic drive. CCHS is a result of pathogenic variants of the PHOX2B gene,
+ which affects neural crest cell development. Consequently, CCHS can be
+ accompanied by dysregulation of the autonomic system, Hirschsprung's disease and
+ other gastrointestinal disorders, cardiac arrhythmias, and neural cell-derived
+ tumors. Disease severity correlates with mutation type and determines ventilatory
+ requirements, with management centered on lifelong respiratory support and
+ multidisciplinary monitoring for associated comorbidities. Case Presentation:
+ This case describes a term infant delivered via emergency cesarean section for
+ maternal hypotension and fetal bradycardia who presented with apnea and required
+ intubation due to failure to respond to positive pressure ventilation. The infant
+ experienced recurrent apnea, hypercarbia, and ventilator dependence due to
+ multiple failed extubation attempts, with an unrevealing evaluation for
+ pulmonary, cardiac, neurologic, metabolic, and infectious causes. Genetic testing
+ identified a PHOX2B polyalanine repeat expansion consistent with CCHS. This case
+ demonstrates a stepwise multidisciplinary approach with concurrent genetic
+ evaluation that enabled early diagnosis, timely management, and improved outcome.
+CI - The Author(s). This is an open access article published by Thieme under the terms
+ of the Creative Commons Attribution License, permitting unrestricted use,
+ distribution, and reproduction so long as the original work is properly cited.
+ (https://creativecommons.org/licenses/by/4.0/).
+FAU - Shalamov, Michal M
+AU - Shalamov MM
+AUID- ORCID: 0009-0009-6807-4333
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+FAU - Cromwell, Linsey R
+AU - Cromwell LR
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+FAU - Guha, Pallabi
+AU - Guha P
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260602
+PL - United States
+TA - AJP Rep
+JT - AJP reports
+JID - 101569862
+PMC - PMC13288275
+OTO - NOTNLM
+OT - PHOX2B
+OT - apnea
+OT - autonomic dysfunction
+OT - congenital central hypoventilation syndrome
+OT - hypercapnia
+OT - hypoxemia
+COIS- Conflict of Interest The authors declare that they have no conflict of interest.
+EDAT- 2026/06/25 06:36
+MHDA- 2026/06/25 06:37
+PMCR- 2026/06/01
+CRDT- 2026/06/25 04:44
+PHST- 2026/03/16 00:00 [received]
+PHST- 2026/05/09 00:00 [accepted]
+PHST- 2026/06/25 06:37 [medline]
+PHST- 2026/06/25 06:36 [pubmed]
+PHST- 2026/06/25 04:44 [entrez]
+PHST- 2026/06/01 00:00 [pmc-release]
+AID - AJPR-26-Mar-0018 [pii]
+AID - 10.1055/a-2873-6868 [doi]
+PST - epublish
+SO - AJP Rep. 2026 Jun 2;16(2):e105-e108. doi: 10.1055/a-2873-6868. eCollection 2026
+ Apr.
+
PMID- 41531556
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/PLIN4_batch_01.txt b/data/literature/PLIN4_batch_01.txt
index 376bcad7..650a020d 100644
--- a/data/literature/PLIN4_batch_01.txt
+++ b/data/literature/PLIN4_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 40693562
OWN - NLM
STAT- MEDLINE
DCOM- 20251013
-LR - 20251015
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -158,6 +158,7 @@ GR - Fundacion Isabel Gemio/
GR - Grifols/
GR - FPU20/06692/Ministerio de Universidades, Spain/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250722
PL - United States
TA - Ann Clin Transl Neurol
diff --git a/data/literature/PPP2R2B_batch_01.txt b/data/literature/PPP2R2B_batch_01.txt
index f6f22c37..785f3d87 100644
--- a/data/literature/PPP2R2B_batch_01.txt
+++ b/data/literature/PPP2R2B_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 42105155
OWN - NLM
STAT- MEDLINE
-DCOM- 20260509
-LR - 20260509
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Linking)
VI - 25
@@ -90,24 +90,26 @@ JT - Cerebellum (London, England)
JID - 101089443
RN - 0 (Amyloid beta-Peptides)
RN - 0 (tau Proteins)
-RN - 0 (Peptide Fragments)
RN - EC 3.1.3.16 (Protein Phosphatase 2)
RN - EC 3.1.3.16 (PPP2R2B protein, human)
+RN - 0 (Peptide Fragments)
RN - 0 (amyloid beta-protein (1-42))
+RN - 0 (amyloid beta-protein (1-40))
RN - 0 (Biomarkers)
RN - 0 (Nerve Tissue Proteins)
+RN - Spinocerebellar Ataxia 12
SB - IM
MH - Humans
MH - Male
+MH - *Spinocerebellar Ataxias/blood/genetics
MH - Female
MH - *Amyloid beta-Peptides/blood
+MH - tau Proteins/blood
MH - Cross-Sectional Studies
-MH - Middle Aged
+MH - Protein Phosphatase 2/genetics
MH - Adult
-MH - *Spinocerebellar Ataxias/blood/genetics
-MH - *tau Proteins/blood
+MH - Middle Aged
MH - *Peptide Fragments/blood
-MH - *Protein Phosphatase 2/genetics
MH - Mutation
MH - Biomarkers/blood
MH - Nerve Tissue Proteins
@@ -441,8 +443,8 @@ SO - Neurol Genet. 2026 Mar 3;12(2):e200360. doi: 10.1212/NXG.0000000000200360.
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -616,18 +618,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -658,8 +658,8 @@ SO - EBioMedicine. 2026 Mar;125:106190. doi: 10.1016/j.ebiom.2026.106190. Epub
PMID- 41691974
OWN - NLM
STAT- MEDLINE
-DCOM- 20260405
-LR - 20260405
+DCOM- 20260612
+LR - 20260612
IS - 1873-5126 (Electronic)
IS - 1353-8020 (Linking)
VI - 145
@@ -759,15 +759,14 @@ JID - 9513583
RN - 0 (Mitochondrial Proteins)
SB - IM
MH - Humans
+MH - *Leukocytes, Mononuclear/metabolism
MH - Male
MH - Female
-MH - *Leukocytes, Mononuclear/metabolism
+MH - *Spinocerebellar Ataxias/genetics/blood
MH - Middle Aged
-MH - *Spinocerebellar Ataxias/genetics
-MH - Adult
MH - *Mitochondria/metabolism/genetics
+MH - Adult
MH - *Gene Expression
-MH - Mitophagy/genetics
MH - Aged
MH - Mitochondrial Proteins/genetics
OTO - NOTNLM
@@ -792,97 +791,6 @@ PST - ppublish
SO - Parkinsonism Relat Disord. 2026 Apr;145:108228. doi:
10.1016/j.parkreldis.2026.108228. Epub 2026 Feb 12.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41074692
OWN - NLM
STAT- MEDLINE
diff --git a/data/literature/PRNP_batch_01.txt b/data/literature/PRNP_batch_01.txt
index cfc48d44..f6f7190c 100644
--- a/data/literature/PRNP_batch_01.txt
+++ b/data/literature/PRNP_batch_01.txt
@@ -1,4 +1,147 @@
+PMID- 42021413
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
+IS - 2051-5960 (Electronic)
+IS - 2051-5960 (Linking)
+VI - 14
+IP - 1
+DP - 2026 Apr 22
+TI - The octapeptide repeats of prion protein play critical roles in the pathogenesis
+ of prion diseases.
+LID - 10.1186/s40478-026-02300-3 [doi]
+LID - 122
+AB - Prion protein (PrP) is essential for the pathogenicity of prion diseases, a group
+ of fatal neurodegenerative disorders affecting both humans and animals. The
+ octapeptide repeats (OR) of PrP is a highly conserved structural feature;
+ however, conflicting observations-that OR expansion causes inherited prion
+ diseases while being dispensable for prion transmission-obscure its role in these
+ disorders. We developed DeltaOR mice by deleting the OR from the endogenous
+ PrP-encoding gene, PRNP, which resulted in significantly prolonged survival times
+ for mice inoculated with any of the five prion strains. Although disease
+ characteristics were similar between terminally ill DeltaOR and wild-type mice, the
+ aggregation and conversion of PrP to the misfolded PrPSc were substantially
+ delayed in DeltaOR mice. This delay is attributable to reduced OR-OR self-association
+ and diminished interactions between OR and the positively charged N-terminus of
+ PrP. Additionally, the neurotoxic phase of the disease was both delayed and
+ significantly prolonged in DeltaOR mice. Our findings demonstrate the critical roles
+ of OR in both PrP misfolding and neurotoxicity in prion diseases, highlighting OR
+ as a promising therapeutic target that can mitigate both essential pathogenic
+ processes in prion diseases.
+FAU - Zhang, Xiangyi
+AU - Zhang X
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+AD - Key Laboratory of Brain Functional Genomics (Ministry of Education and Shanghai),
+ Institute of Brain Functional Genomics, School of Life Sciences and the
+ Collaborative Innovation Center for Brain Science, East China Normal University,
+ Shanghai, 200062, China.
+FAU - Zhang, Jingjing
+AU - Zhang J
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+AD - School of Basic Medical Sciences, Capital Medical University, Beijing, 100069,
+ China.
+FAU - Zhang, Yan
+AU - Zhang Y
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+AD - College of Biological Sciences, China Agricultural University, Beijing, 100193,
+ China.
+FAU - Wang, Dan
+AU - Wang D
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+FAU - Liu, Gaixiu
+AU - Liu G
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+FAU - Wang, Mengfei
+AU - Wang M
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+FAU - Li, Chaoyang
+AU - Li C
+AD - Cancer Research Institute, School of Basic Medical Sciences, University of South
+ China, Hengyang, 421001, China.
+FAU - Shi, Qi
+AU - Shi Q
+AD - National key-Laboratory of Intelligent Tracking and Forecasting for Infectious
+ Disease, National Institute for Viral Disease Control and Prevention, Chinese
+ Center for Disease Control and Prevention, Beijing, 102206, China.
+FAU - Dong, Xiaoping
+AU - Dong X
+AD - National key-Laboratory of Intelligent Tracking and Forecasting for Infectious
+ Disease, National Institute for Viral Disease Control and Prevention, Chinese
+ Center for Disease Control and Prevention, Beijing, 102206, China.
+FAU - Yuan, Chonggang
+AU - Yuan C
+AD - Key Laboratory of Brain Functional Genomics (Ministry of Education and Shanghai),
+ Institute of Brain Functional Genomics, School of Life Sciences and the
+ Collaborative Innovation Center for Brain Science, East China Normal University,
+ Shanghai, 200062, China.
+FAU - Li, Wenlong
+AU - Li W
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China.
+FAU - Ma, Jiyan
+AU - Ma J
+AD - Beijing Institute for Brain Research, Chinese Academy of Medical Sciences &
+ Peking Union Medical College, Beijing, 102206, China. majiyan@cibr.ac.cn.
+AD - Chinese Institute for Brain Research, Beijing, 102206, China. majiyan@cibr.ac.cn.
+LA - eng
+GR - 31571059/National Natural Science Foundation of China/
+GR - 31472213/National Natural Science Foundation of China/
+PT - Journal Article
+DEP - 20260422
+PL - England
+TA - Acta Neuropathol Commun
+JT - Acta neuropathologica communications
+JID - 101610673
+RN - 0 (Prion Proteins)
+RN - 0 (Prions)
+SB - IM
+MH - Animals
+MH - *Prion Diseases/pathology/metabolism/genetics
+MH - *Prion Proteins/genetics/metabolism
+MH - Mice
+MH - Brain/pathology/metabolism
+MH - Mice, Transgenic
+MH - Disease Models, Animal
+MH - *Prions/metabolism/genetics
+PMC - PMC13251052
+OTO - NOTNLM
+OT - Neurodegeneration
+OT - Octapeptide repeats
+OT - Prion disease
+OT - Prion protein
+OT - Prion transmission
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+EDAT- 2026/04/23 06:31
+MHDA- 2026/06/27 18:38
+PMCR- 2026/04/22
+CRDT- 2026/04/23 00:58
+PHST- 2026/02/06 00:00 [received]
+PHST- 2026/04/15 00:00 [accepted]
+PHST- 2026/06/27 18:38 [medline]
+PHST- 2026/04/23 06:31 [pubmed]
+PHST- 2026/04/23 00:58 [entrez]
+PHST- 2026/04/22 00:00 [pmc-release]
+AID - 10.1186/s40478-026-02300-3 [pii]
+AID - 2300 [pii]
+AID - 10.1186/s40478-026-02300-3 [doi]
+PST - epublish
+SO - Acta Neuropathol Commun. 2026 Apr 22;14(1):122. doi: 10.1186/s40478-026-02300-3.
+
PMID- 41890154
OWN - NLM
STAT- PubMed-not-MEDLINE
diff --git a/data/literature/RAI1_batch_01.txt b/data/literature/RAI1_batch_01.txt
index 3c8b9dee..a38fa5e9 100644
--- a/data/literature/RAI1_batch_01.txt
+++ b/data/literature/RAI1_batch_01.txt
@@ -270,7 +270,7 @@ PMID- 40541176
OWN - NLM
STAT- MEDLINE
DCOM- 20250709
-LR - 20250807
+LR - 20260616
IS - 2213-6711 (Electronic)
IS - 2213-6711 (Linking)
VI - 20
@@ -376,6 +376,7 @@ AD - Developmental Biology Program & Center for Stem Cell Biology, Memorial Slo
LA - eng
GR - P30 CA008748/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250619
PL - United States
TA - Stem Cell Reports
diff --git a/data/literature/RFC1_batch_01.txt b/data/literature/RFC1_batch_01.txt
index 77377dd6..7c0e36ec 100644
--- a/data/literature/RFC1_batch_01.txt
+++ b/data/literature/RFC1_batch_01.txt
@@ -1,9 +1,163 @@
+PMID- 42371259
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 4
+DP - 2026 Jun 29
+TI - Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel
+ Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.
+LID - 10.1007/s12311-026-02041-y [doi]
+LID - 102
+AB - Spinocerebellar ataxia type 27B is a recently described autosomal dominant,
+ late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the
+ fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent
+ adult-onset ataxia, its full clinical spectrum remains incompletely
+ understood. To characterize the neurological, cognitive, and paraclinical
+ phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand
+ the currently known motor and non-motor features, as well as to assess the
+ co-occurrence of other repeat expansions. In this cross-sectional single-center
+ study, patients with heterozygous FGF14 repeat expansions underwent standardized
+ neurological examination and cognitive screening. Paraclinical data were reviewed
+ when available. 18 patients were included in the study (mean age at onset: 64
+ [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most
+ commonly a lateral veering gait with corrective sidesteps. In addition to the
+ core known cerebellar phenotype, we identified other movement-disorder
+ manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with
+ nigrostriatal degeneration confirmed in one patient. Cognitive impairment was
+ common, with two-thirds of patients fulfilling criteria for cerebellar
+ cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]).
+ Worse CCAS and MoCA performance was associated with increasing ataxia severity.
+ FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with
+ heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three
+ patients. Earlier diagnostic misclassification as transient ischemic attack was
+ reported in 33%. These findings expand the known phenotype of spinocerebellar
+ ataxia type 27B, emphasizing it as a multisystem movement disorder.
+CI - (c) 2026. The Author(s).
+FAU - Rashedi, Ronak
+AU - Rashedi R
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Peemoller, Franca
+AU - Peemoller F
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Erdmann, Hannes
+AU - Erdmann H
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Gelderblom, Mathias
+AU - Gelderblom M
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Hidding, Ute
+AU - Hidding U
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Ganos, Christos
+AU - Ganos C
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+FAU - Chen, Robert
+AU - Chen R
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+AD - Division of Neurology, Department of Medicine, Krembil Research Institute,
+ University of Toronto, University Health Network, Toronto, ON, Canada.
+FAU - Abicht, Angela
+AU - Abicht A
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Zittel, Simone
+AU - Zittel S
+AUID- ORCID: 0000-0002-3767-6376
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany. s.zittel-dirks@uke.de.
+LA - eng
+PT - Journal Article
+DEP - 20260629
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - Spinocerebellar ataxia 27
+SB - IM
+MH - Humans
+MH - Female
+MH - Phenotype
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Adult
+MH - Cross-Sectional Studies
+MH - *Fibroblast Growth Factors/genetics
+MH - *Cognitive Dysfunction/genetics/physiopathology
+MH - *Spinocerebellar Degenerations/genetics/physiopathology
+MH - Trinucleotide Repeat Expansion/genetics
+MH - Aged, 80 and over
+MH - *Spinocerebellar Ataxias/genetics
+MH - *Movement Disorders/genetics
+MH - DNA Repeat Expansion
+PMC - PMC13315097
+OTO - NOTNLM
+OT - Cerebellar Cognitive Affective Syndrome
+OT - Repeat Expansion Disorders
+OT - Spinocerebellar Ataxia
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+ Financial Disclosures of all Authors (for the Preceding 12 Months): RR FP UH HE
+ MG CG RC AA SZ Stock Ownership in medically related fields None None None None
+ None None None None None Intellectual Property Rights None None None None None
+ None None None None Consultancies None None None None None None None None None
+ Expert Testimony None None None None None None Abbvie, Merz, Ipsen None None
+ Advisory Boards None None None None Merz, Abbvie, Biogen None None None None
+ Employment University Medical Center Hamburg Eppendorf None University Medical
+ Center Hamburg Eppendorf Medical Genetics Center Munich University Medical Center
+ Hamburg Eppendorf University Health Network, University of Toront None Medical
+ Genetics Center Munich University Medical Center Hamburg Eppendorf Partnerships
+ None None None None None None None None None Inventions None None None None None
+ None None None None Contracts University Medical Center Hamburg Eppendorf None
+ None Medical Genetics Center Munich University Medical Center Hamburg Eppendorf
+ University Health Network None Medical Genetics Center Munich University Medical
+ Center Hamburg Eppendorf Honoraria None None None None Merz, Abbvie, Biogen,
+ Nihon Kohden Xeomin for educational courses, Movement disorders society for
+ educational courses None None Biogen Royalties None None None None None None None
+ None None Patents None None None None None None None None None Grants None None
+ None None DFG None Canadian Institute of Health Research, Parkinson Foundation,
+ National Organization of Rare Diseases, Natural Science and Engineering Research
+ Council of Canada, Abbvie None UKE Foundation Other None None None None None None
+ None None None
+EDAT- 2026/06/29 12:33
+MHDA- 2026/06/29 12:34
+PMCR- 2026/06/29
+CRDT- 2026/06/29 11:25
+PHST- 2026/04/23 00:00 [received]
+PHST- 2026/06/19 00:00 [accepted]
+PHST- 2026/06/29 12:34 [medline]
+PHST- 2026/06/29 12:33 [pubmed]
+PHST- 2026/06/29 11:25 [entrez]
+PHST- 2026/06/29 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02041-y [pii]
+AID - 2041 [pii]
+AID - 10.1007/s12311-026-02041-y [doi]
+PST - epublish
+SO - Cerebellum. 2026 Jun 29;25(4):102. doi: 10.1007/s12311-026-02041-y.
+
PMID- 42178418
OWN - NLM
STAT- MEDLINE
-DCOM- 20260524
-LR - 20260527
+DCOM- 20260624
+LR - 20260624
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -113,28 +267,30 @@ LA - eng
GR - 101156595/HORIZON EUROPE Framework Programme/
GR - 01EO 1401/Bundesministerium fur Forschung und Technologie/
GR - 189963/CAPMC/CIHR/Canada
+PT - Case Reports
PT - Journal Article
DEP - 20260525
PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
RN - EC 3.6.4.- (Replication Protein C)
RN - 0 (RFC1 protein, human)
SB - IM
MH - Humans
-MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology
-MH - Male
+MH - *Bilateral Vestibulopathy/genetics/physiopathology/epidemiology/complications
MH - Female
-MH - Middle Aged
MH - Phenotype
MH - *Fibroblast Growth Factors/genetics
MH - *Replication Protein C/genetics
+MH - Male
+MH - Middle Aged
+MH - *DNA Repeat Expansion/genetics
MH - Adult
MH - Aged
-MH - *DNA Repeat Expansion/genetics
+MH - Heterozygote
PMC - PMC13199202
OTO - NOTNLM
OT - FGF14
@@ -187,8 +343,8 @@ SO - J Neurol. 2026 May 25;273(6):339. doi: 10.1007/s00415-026-13867-1.
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -268,22 +424,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -757,8 +913,8 @@ SO - Ann Neurol. 2026 Apr 11. doi: 10.1002/ana.78226.
PMID- 41840142
OWN - NLM
STAT- MEDLINE
-DCOM- 20260317
-LR - 20260419
+DCOM- 20260620
+LR - 20260620
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Linking)
VI - 273
@@ -845,22 +1001,20 @@ PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
-RN - EC 3.6.4.- (Replication Protein C)
RN - 0 (RFC1 protein, human)
+RN - EC 3.6.4.- (Replication Protein C)
SB - IM
MH - Humans
-MH - Male
MH - Female
+MH - Male
+MH - Pilot Projects
MH - Middle Aged
MH - *Replication Protein C/genetics
-MH - *Cough/genetics/diagnosis/physiopathology
-MH - Pilot Projects
+MH - *Chronic Cough/genetics/physiopathology/diagnosis/etiology
+MH - Nerve Conduction Studies
MH - Adult
-MH - Chronic Disease
MH - Aged
-MH - Neural Conduction/physiology
MH - DNA Repeat Expansion/genetics
-MH - Chronic Cough
OTO - NOTNLM
OT - CANVAS
OT - Chronic cough
@@ -896,8 +1050,8 @@ SO - J Neurol. 2026 Mar 16;273(4):211. doi: 10.1007/s00415-026-13751-y.
PMID- 41780084
OWN - NLM
STAT- MEDLINE
-DCOM- 20260528
-LR - 20260528
+DCOM- 20260610
+LR - 20260610
IS - 1879-1476 (Electronic)
IS - 0385-8146 (Linking)
VI - 53
@@ -1029,8 +1183,8 @@ SO - Auris Nasus Larynx. 2026 Jun;53(3):309-323. doi: 10.1016/j.anl.2026.02.002
PMID- 41689662
OWN - NLM
STAT- MEDLINE
-DCOM- 20260214
-LR - 20260319
+DCOM- 20260613
+LR - 20260613
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -1135,16 +1289,18 @@ JT - Journal of neurology
JID - 0423161
SB - IM
MH - Humans
-MH - Male
MH - Female
+MH - *Cerebellar Ataxia/physiopathology/complications
+MH - Male
+MH - *Bilateral Vestibulopathy/physiopathology/complications
MH - Middle Aged
-MH - *Cerebellar Ataxia/physiopathology/complications/genetics
MH - Adult
-MH - *Bilateral Vestibulopathy/physiopathology/complications/genetics
-MH - Aged
-MH - *Ocular Motility Disorders/physiopathology/etiology
MH - Saccades/physiology
-MH - Eye Movements/physiology
+MH - Pursuit, Smooth/physiology
+MH - *Ocular Motility Disorders/physiopathology/etiology
+MH - Aged
+MH - Nystagmus, Pathologic/physiopathology/etiology
+MH - Cognitive Dysfunction/physiopathology/etiology
PMC - PMC12906546
OTO - NOTNLM
OT - RFC1
@@ -1177,8 +1333,8 @@ SO - J Neurol. 2026 Feb 14;273(2):143. doi: 10.1007/s00415-026-13678-4.
PMID- 41614301
OWN - NLM
STAT- MEDLINE
-DCOM- 20260130
-LR - 20260202
+DCOM- 20260701
+LR - 20260701
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -1247,12 +1403,10 @@ RN - 5Z93L87A1R (Guanine)
RN - 9007-49-2 (DNA)
SB - IM
MH - *G-Quadruplexes
-MH - Humans
MH - Guanine/chemistry
-MH - *DNA/chemistry
MH - *Microsatellite Repeats
-MH - Nucleotide Motifs
-MH - DNA Repeat Expansion
+MH - Humans
+MH - *DNA/chemistry
PMC - PMC12856209
COIS- None declared.
EDAT- 2026/01/30 06:30
@@ -6438,7 +6592,7 @@ PMID- 40007153
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20250501
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -6613,6 +6767,7 @@ LA - eng
GR - MRF2023126/Medical Research Future Fund/
GR - MRF2025138/Medical Research Future Fund/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250225
PL - United States
TA - Ann Clin Transl Neurol
@@ -8649,7 +8804,7 @@ PMID- 39152783
OWN - NLM
STAT- MEDLINE
DCOM- 20241112
-LR - 20260127
+LR - 20260701
IS - 1468-1331 (Electronic)
IS - 1351-5101 (Print)
IS - 1351-5101 (Linking)
@@ -9685,7 +9840,7 @@ PMID- 38381906
OWN - NLM
STAT- MEDLINE
DCOM- 20240508
-LR - 20260526
+LR - 20260602
IS - 1362-4962 (Electronic)
IS - 0305-1048 (Print)
IS - 0305-1048 (Linking)
@@ -9766,7 +9921,9 @@ GR - T32 GM146621/GM/NIGMS NIH HHS/United States
GR - R35 GM130322/GM/NIGMS NIH HHS/United States
PT - Journal Article
PT - Research Support, N.I.H., Extramural
+PT - Research Support, N.I.H., Intramural
PT - Research Support, Non-U.S. Gov't
+PT - Research Support, U.S. Gov't, Non-P.H.S.
PL - England
TA - Nucleic Acids Res
JT - Nucleic acids research
@@ -11143,7 +11300,7 @@ PMID- 38145611
OWN - NLM
STAT- MEDLINE
DCOM- 20240122
-LR - 20250530
+LR - 20260624
IS - 1873-5126 (Electronic)
IS - 1353-8020 (Linking)
VI - 119
@@ -11220,6 +11377,7 @@ AD - Pos-graduacao em Medicina Interna e Ciencias da Saude, Hospital de Clinica
LA - eng
GR - MR/T001712/1/MRC_/Medical Research Council/United Kingdom
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231220
PL - England
TA - Parkinsonism Relat Disord
@@ -12560,7 +12718,7 @@ SO - Eur J Neurol. 2023 Dec;30(12):3828-3833. doi: 10.1111/ene.16039. Epub 2023
PMID- 37546920
OWN - NLM
STAT- PubMed-not-MEDLINE
-LR - 20240923
+LR - 20260602
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2023 Jul 26
diff --git a/data/literature/RILPL1_batch_01.txt b/data/literature/RILPL1_batch_01.txt
index ade8439a..44d03c7d 100644
--- a/data/literature/RILPL1_batch_01.txt
+++ b/data/literature/RILPL1_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 41792844
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260511
+DCOM- 20260613
+LR - 20260613
IS - 2051-5960 (Electronic)
IS - 2051-5960 (Linking)
VI - 14
@@ -76,13 +76,23 @@ PL - England
TA - Acta Neuropathol Commun
JT - Acta neuropathologica communications
JID - 101610673
+RN - 0 (LRP12 protein, human)
+RN - 0 (LDL-Receptor Related Proteins)
+RN - 147336-22-9 (Green Fluorescent Proteins)
+RN - 0 (Low Density Lipoprotein Receptor-Related Protein-1)
RN - Oculopharyngodistal Myopathy
SB - IM
MH - Humans
MH - *Trinucleotide Repeat Expansion/genetics
-MH - *Distal Myopathies/genetics/pathology
-MH - *Protein Biosynthesis/genetics
-MH - Muscular Dystrophies
+MH - *LDL-Receptor Related Proteins/genetics/metabolism
+MH - *Dystonic Disorders/genetics/pathology
+MH - Animals
+MH - *Muscular Dystrophies/genetics/pathology
+MH - Transfection
+MH - Muscle, Skeletal/pathology/metabolism
+MH - *Protein Biosynthesis
+MH - Green Fluorescent Proteins/metabolism/genetics
+MH - Low Density Lipoprotein Receptor-Related Protein-1
PMC - PMC13078011
OTO - NOTNLM
OT - CGG repeat expansion
diff --git a/data/literature/RUNX2_batch_01.txt b/data/literature/RUNX2_batch_01.txt
index cd757bb1..cf9d9ef6 100644
--- a/data/literature/RUNX2_batch_01.txt
+++ b/data/literature/RUNX2_batch_01.txt
@@ -1,4 +1,119 @@
+PMID- 42255595
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260608
+LR - 20260608
+IS - 2470-1343 (Electronic)
+IS - 2470-1343 (Linking)
+VI - 11
+IP - 21
+DP - 2026 Jun 2
+TI - DPHD from Curcuma comosa Enhances the Expansion and Osteogenic Differentiation of
+ Human Umbilical Cord-Derived Mesenchymal Stem Cells While Attenuating Senescence.
+PG - 30361-30374
+LID - 10.1021/acsomega.5c08638 [doi]
+AB - Osteoporosis and other degenerative bone disorders are major health burdens, and
+ current therapies are limited in restoring bone regeneration. Human umbilical
+ cord-derived mesenchymal stem cells (hUC-MSCs) offer promise for regenerative
+ medicine, but their clinical potential is restricted by replicative senescence
+ during ex vivo expansion. In this study, we examined the effects of
+ (3R)-1,7-diphenyl-(4E,6E)-4,6-heptadien-3-ol (DPHD), a diarylheptanoid derivative
+ from Curcuma comosa Roxb, on hUC-MSC proliferation, senescence, migration, and
+ osteogenic differentiation. Treatment with DPHD (2.5-5 muM) enhanced cell
+ viability and proliferation while preserving MSC-specific marker expression and
+ stemness-related genes (NANOG, OCT4, SOX2). DPHD significantly reduced
+ senescence-associated beta-galactosidase activity and reduced the expression levels
+ of the cell cycle regulators p16 and p21, indicating an antisenescent effect.
+ Moreover, DPHD suppressed the secretion of cytokines associated with the
+ Senescence-Associated Secretory Phenotype (SASP), including IL-1beta, IL-6, and
+ MCP-1, and attenuated H(2)O(2) induced ROS accumulation, confirming its
+ antioxidant property. Furthermore, DPHD promoted osteogenic differentiation, as
+ shown by increased ALP activity, calcium deposition, and upregulation of
+ osteogenic marker genes. Mechanistically, DPHD upregulated
+ Wnt/beta-catenin-associated genes during proliferation (CTNNB1, C-MYC, AXIN2, CCND1)
+ and enhanced osteogenic gene expression during differentiation (RUNX2, ALP,
+ COL1A1), while inhibition of Wnt/beta-catenin signaling suppressed these increases.
+ Therefore, both the proliferative and osteogenic effects of DPHD are at least
+ partly mediated through activation of the Wnt/beta-catenin pathway. Collectively,
+ these findings suggest that DPHD enhances the expansion and osteogenic potential
+ of hUC-MSCs by attenuating cellular senescence while preserving their functional
+ properties, underscoring its potential as a natural compound for improving
+ MSC-based therapies in regenerative medicine.
+CI - (c) 2026 The Authors. Published by American Chemical Society.
+FAU - Boonmuen, Nittaya
+AU - Boonmuen N
+AUID- ORCID: 0000-0002-8577-8086
+AD - Department of Physiology, Faculty of Science, Mahidol University, Bangkok 10400,
+ Thailand. RINGGOLD: 68000
+FAU - Paing, Moe Moe
+AU - Paing MM
+AD - Center of Excellence in Stem Research and Innovation, Faculty of Medicine,
+ Thammasat University, Pathum Thani 12120, Thailand. RINGGOLD: 37699
+FAU - Sutjarit, Nareerat
+AU - Sutjarit N
+AD - Nutrition Unit, Faculty of Medicine Ramathibodi Hospital, Mahidol University,
+ Bangkok 10400, Thailand. RINGGOLD: 26687
+FAU - Kheolamai, Pakpoom
+AU - Kheolamai P
+AD - Center of Excellence in Stem Research and Innovation, Faculty of Medicine,
+ Thammasat University, Pathum Thani 12120, Thailand. RINGGOLD: 37699
+AD - Division of Cell Biology, Faculty of Medicine, Thammasat University, Pathum Thani
+ 12120, Thailand.
+FAU - Manochantr, Sirikul
+AU - Manochantr S
+AD - Center of Excellence in Stem Research and Innovation, Faculty of Medicine,
+ Thammasat University, Pathum Thani 12120, Thailand. RINGGOLD: 37699
+AD - Division of Cell Biology, Faculty of Medicine, Thammasat University, Pathum Thani
+ 12120, Thailand.
+FAU - Tantrawatpan, Chairat
+AU - Tantrawatpan C
+AD - Center of Excellence in Stem Research and Innovation, Faculty of Medicine,
+ Thammasat University, Pathum Thani 12120, Thailand. RINGGOLD: 37699
+AD - Division of Cell Biology, Faculty of Medicine, Thammasat University, Pathum Thani
+ 12120, Thailand.
+FAU - Chaichompoo, Waraluck
+AU - Chaichompoo W
+AD - Department of Chemistry and Center of Excellence for Innovation in Chemistry,
+ Faculty of Science, Ramkhamhaeng University, Bangkok 10240, Thailand. RINGGOLD:
+ 54780
+FAU - Suksamrarn, Apichart
+AU - Suksamrarn A
+AUID- ORCID: 0000-0001-8919-3555
+AD - Department of Chemistry and Center of Excellence for Innovation in Chemistry,
+ Faculty of Science, Ramkhamhaeng University, Bangkok 10240, Thailand. RINGGOLD:
+ 54780
+FAU - Tantikanlayaporn, Duangrat
+AU - Tantikanlayaporn D
+AUID- ORCID: 0000-0002-1197-4957
+AD - Center of Excellence in Stem Research and Innovation, Faculty of Medicine,
+ Thammasat University, Pathum Thani 12120, Thailand. RINGGOLD: 37699
+AD - Division of Cell Biology, Faculty of Medicine, Thammasat University, Pathum Thani
+ 12120, Thailand.
+LA - eng
+PT - Journal Article
+DEP - 20260518
+PL - United States
+TA - ACS Omega
+JT - ACS omega
+JID - 101691658
+PMC - PMC13234631
+EDAT- 2026/06/08 12:38
+MHDA- 2026/06/08 12:39
+PMCR- 2026/05/18
+CRDT- 2026/06/08 07:34
+PHST- 2025/08/25 00:00 [received]
+PHST- 2026/05/03 00:00 [revised]
+PHST- 2026/05/13 00:00 [accepted]
+PHST- 2026/06/08 12:39 [medline]
+PHST- 2026/06/08 12:38 [pubmed]
+PHST- 2026/06/08 07:34 [entrez]
+PHST- 2026/05/18 00:00 [pmc-release]
+AID - 10.1021/acsomega.5c08638 [doi]
+PST - epublish
+SO - ACS Omega. 2026 May 18;11(21):30361-30374. doi: 10.1021/acsomega.5c08638.
+ eCollection 2026 Jun 2.
+
PMID- 41468806
OWN - NLM
STAT- MEDLINE
@@ -1007,7 +1122,6 @@ STAT- MEDLINE
DCOM- 20120313
LR - 20250529
IS - 1523-4681 (Electronic)
-IS - 0884-0431 (Print)
IS - 0884-0431 (Linking)
VI - 26
IP - 12
diff --git a/data/literature/SAMD12_batch_01.txt b/data/literature/SAMD12_batch_01.txt
index c731c942..14c79ec1 100644
--- a/data/literature/SAMD12_batch_01.txt
+++ b/data/literature/SAMD12_batch_01.txt
@@ -1,4 +1,125 @@
+PMID- 42276331
+OWN - NLM
+STAT- Publisher
+LR - 20260616
+IS - 1872-8111 (Electronic)
+IS - 0168-0102 (Linking)
+VI - 229
+DP - 2026 Jun 11
+TI - Enhanced calcium activity and transcriptomic alterations in iPSC-derived neurons
+ from BAFME patients with repeat expansions.
+PG - 105080
+LID - S0168-0102(26)00067-2 [pii]
+LID - 10.1016/j.neures.2026.105080 [doi]
+AB - Benign adult familial myoclonus epilepsy (BAFME) is caused by intronic TTTCA and
+ TTTTA repeat expansions in SAMD12 and other genes; the neuronal basis of cortical
+ hyperexcitability, however, remains unclear. We generated induced pluripotent
+ stem cell (iPSC)-derived glutamatergic and GABAergic neurons from three BAFME1
+ patients and examined functional and transcriptomic phenotypes. Patient-derived
+ neurons retained the pathogenic repeat expansions and showed a tendency toward
+ upstream intronic RNA accumulation. Calcium imaging revealed increased
+ spontaneous Ca(2 +) transient frequency in both neuronal subtypes, indicating
+ heightened activity. Pharmacological profiling demonstrated attenuated responses
+ to calcium-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
+ (AMPA)-type glutamate receptor (CP-AMPAR) blockade and GABA(A) receptor
+ antagonism in GABAergic neurons, suggesting altered inhibitory signaling. RNA
+ sequencing revealed transcriptomic alterations without differential expression of
+ ion channels and neurotransmitter receptors. In glutamatergic neurons,
+ ATF4-regulated genes, including SLC7A5 encoding LAT1, a Kv1.2 channel modulator,
+ were downregulated. Reduced SLC7A5 expression was validated at both mRNA and
+ protein levels. In GABAergic neurons, synapse-associated genes PTPRD and GPC6
+ were upregulated. TCERG1L and NLRP2 were suppressed across both neuronal
+ subtypes. These findings suggest subtype-specific alterations may contribute to
+ neuronal hyperexcitability in BAFME and provide a platform for mechanistic
+ studies of repeat expansion-associated epilepsies.
+CI - Copyright (c) 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
+FAU - Nagasako, Yuki
+AU - Nagasako Y
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan; Department of Physiology, Keio University School of Medicine,
+ Tokyo, Japan. Electronic address: nagasakoy.utac.int@gmail.com.
+FAU - Ishikawa, Mitsuru
+AU - Ishikawa M
+AD - Department of Physiology, Keio University School of Medicine, Tokyo, Japan;
+ Division of CNS Regeneration and Drug Discovery, International Center for Brain
+ Science, Fujita Health University, Toyoake, Aichi, Japan; Keio Regenerative
+ Medicine Research Center, Keio University, Kanagawa, Japan. Electronic address:
+ mitsuru.ishikawa@fujita-hu.ac.jp.
+FAU - Ishiura, Hiroyuki
+AU - Ishiura H
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan; Department of Neurology, Okayama University Graduate School of
+ Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. Electronic
+ address: ishiura@s.okayama-u.ac.jp.
+FAU - Supakul, Sopak
+AU - Supakul S
+AD - Department of Physiology, Keio University School of Medicine, Tokyo, Japan;
+ Division of CNS Regeneration and Drug Discovery, International Center for Brain
+ Science, Fujita Health University, Toyoake, Aichi, Japan. Electronic address:
+ sopak.supakul@fujita-hu.ac.jp.
+FAU - Maeda, Sumihiro
+AU - Maeda S
+AD - Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
+ Electronic address: sumihiro.maeda@keio.jp.
+FAU - Toda, Tatsushi
+AU - Toda T
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan; Department of Neurology, National Center Hospital, National Center
+ of Neurology and Psychiatry (NCNP), Tokyo, Japan. Electronic address:
+ toda@m.u-tokyo.ac.jp.
+FAU - Tsuji, Shoji
+AU - Tsuji S
+AD - Department of Neurology, Graduate School of Medicine, The University of Tokyo,
+ Tokyo, Japan; Institute of Medical Genomics, International University of Health
+ and Welfare, Narita, Japan. Electronic address: tsuji@m.u-tokyo.ac.jp.
+FAU - Okano, Hideyuki
+AU - Okano H
+AD - Department of Physiology, Keio University School of Medicine, Tokyo, Japan;
+ Division of CNS Regeneration and Drug Discovery, International Center for Brain
+ Science, Fujita Health University, Toyoake, Aichi, Japan; Keio Regenerative
+ Medicine Research Center, Keio University, Kanagawa, Japan. Electronic address:
+ hidokano@keio.jp.
+LA - eng
+PT - Journal Article
+DEP - 20260611
+PL - Ireland
+TA - Neurosci Res
+JT - Neuroscience research
+JID - 8500749
+SB - IM
+OTO - NOTNLM
+OT - BAFME
+OT - Calcium imaging
+OT - Epilepsy
+OT - GABAergic neurons
+OT - Glutamatergic neurons
+OT - Induced pluripotent stem cells
+OT - Repeat expansion
+COIS- Declaration of Competing Interest The authors declare the following financial
+ interests/personal relationships which may be considered as potential competing
+ interests: Hideyuki Okano reports a relationship with SanBio Co., Ltd. that
+ includes: consulting or advisory. Hideyuki Okano reports a relationship with K
+ Pharma Inc. that includes: board membership and consulting or advisory. Hiroyuki
+ Ishiura has patent Genetic diagnostic method for BAFME issued to Institution of
+ the authors. Shoji Tsuji has patent Genetic diagnostic method for BAFME issued to
+ Institution of the authors. If there are other authors, they declare that they
+ have no known competing financial interests or personal relationships that could
+ have appeared to influence the work reported in this paper.
+EDAT- 2026/06/12 00:37
+MHDA- 2026/06/12 00:37
+CRDT- 2026/06/11 19:47
+PHST- 2026/04/08 00:00 [received]
+PHST- 2026/05/22 00:00 [revised]
+PHST- 2026/06/08 00:00 [accepted]
+PHST- 2026/06/12 00:37 [pubmed]
+PHST- 2026/06/12 00:37 [medline]
+PHST- 2026/06/11 19:47 [entrez]
+AID - S0168-0102(26)00067-2 [pii]
+AID - 10.1016/j.neures.2026.105080 [doi]
+PST - aheadofprint
+SO - Neurosci Res. 2026 Jun 11;229:105080. doi: 10.1016/j.neures.2026.105080.
+
PMID- 41874439
OWN - NLM
STAT- Publisher
@@ -137,13 +258,17 @@ SO - Epilepsia. 2026 Mar 24. doi: 10.1002/epi.70213.
PMID- 41850906
OWN - NLM
-STAT- Publisher
-LR - 20260318
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Linking)
-DP - 2026 Mar 18
+VI - 41
+IP - 6
+DP - 2026 Jun
TI - RNA Toxicity and Interacting RNA-Binding Protein NOVA2 of (UUUCA)exp RNA Foci in
Familial Cortical Myoclonic Tremor with Epilepsy.
+PG - 1479-1491
LID - 10.1002/mds.70270 [doi]
AB - BACKGROUND: Familial cortical myoclonic tremor with epilepsy (FCMTE) is an
autosomal dominant neurological disease characterized by cortical myoclonic
@@ -226,7 +351,20 @@ PL - United States
TA - Mov Disord
JT - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
+RN - 0 (RNA-Binding Proteins)
+RN - 0 (Neuro-Oncological Ventral Antigen)
+RN - 0 (Nerve Tissue Proteins)
+RN - 63231-63-0 (RNA)
+RN - 0 (SAMD12 protein, human)
SB - IM
+MH - Humans
+MH - *RNA-Binding Proteins/genetics/metabolism
+MH - Neuro-Oncological Ventral Antigen
+MH - *Epilepsies, Myoclonic/genetics/metabolism
+MH - *Nerve Tissue Proteins/genetics/metabolism
+MH - Neurons/metabolism
+MH - Induced Pluripotent Stem Cells/metabolism
+MH - *RNA/metabolism/genetics
OTO - NOTNLM
OT - NOVA2
OT - RNA foci
@@ -234,17 +372,17 @@ OT - alternative splicing
OT - familial cortical myoclonic tremor with epilepsy
OT - iPSC-neurons
EDAT- 2026/03/19 01:32
-MHDA- 2026/03/19 01:32
+MHDA- 2026/06/27 00:49
CRDT- 2026/03/18 22:52
PHST- 2026/02/16 00:00 [revised]
PHST- 2025/10/29 00:00 [received]
PHST- 2026/02/23 00:00 [accepted]
-PHST- 2026/03/19 01:32 [medline]
+PHST- 2026/06/27 00:49 [medline]
PHST- 2026/03/19 01:32 [pubmed]
PHST- 2026/03/18 22:52 [entrez]
AID - 10.1002/mds.70270 [doi]
-PST - aheadofprint
-SO - Mov Disord. 2026 Mar 18. doi: 10.1002/mds.70270.
+PST - ppublish
+SO - Mov Disord. 2026 Jun;41(6):1479-1491. doi: 10.1002/mds.70270. Epub 2026 Mar 18.
PMID- 41426430
OWN - NLM
@@ -900,7 +1038,7 @@ PMID- 38467733
OWN - NLM
STAT- MEDLINE
DCOM- 20250422
-LR - 20260302
+LR - 20260701
IS - 1476-5438 (Electronic)
IS - 1018-4813 (Print)
IS - 1018-4813 (Linking)
diff --git a/data/literature/TAF1_batch_01.txt b/data/literature/TAF1_batch_01.txt
index a17e2dcf..472c6a00 100644
--- a/data/literature/TAF1_batch_01.txt
+++ b/data/literature/TAF1_batch_01.txt
@@ -1028,7 +1028,7 @@ PMID- 35868859
OWN - NLM
STAT- MEDLINE
DCOM- 20260512
-LR - 20260512
+LR - 20260610
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
@@ -1157,6 +1157,8 @@ AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20220830
PL - United States
TA - eNeuro
diff --git a/data/literature/TBP_batch_01.txt b/data/literature/TBP_batch_01.txt
index fc1c6ad5..b435f447 100644
--- a/data/literature/TBP_batch_01.txt
+++ b/data/literature/TBP_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 42196324
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260624
+LR - 20260624
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -279,8 +279,9 @@ SO - Brain Commun. 2026 Mar 16;8(2):fcag092. doi: 10.1093/braincomms/fcag092.
PMID- 41843312
OWN - NLM
-STAT- In-Process
-LR - 20260421
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -324,13 +325,24 @@ AU - Almeida LB
AD - Department of Neurology, Norman Fixel Institute for Neurological Diseases,
University of Florida, Gainesville, FL, USA.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20260317
PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
+RN - 0 (TATA-Box Binding Protein)
+RN - Spinocerebellar Ataxia 17
SB - IM
+MH - Humans
+MH - Male
+MH - Adolescent
+MH - Age of Onset
+MH - *TATA-Box Binding Protein/genetics
+MH - *Huntington Disease/genetics/physiopathology
+MH - Trinucleotide Repeat Expansion
+MH - Spinocerebellar Ataxias
PMC - PMC12995942
OTO - NOTNLM
OT - Ataxia
@@ -340,12 +352,12 @@ OT - Movement Disorder
OT - SCA17
COIS- Declarations. Competing Interests: The authors declare no competing interests.
EDAT- 2026/03/18 13:41
-MHDA- 2026/03/18 13:41
+MHDA- 2026/06/27 16:09
PMCR- 2026/03/17
CRDT- 2026/03/17 12:23
PHST- 2025/12/03 00:00 [received]
PHST- 2026/03/08 00:00 [accepted]
-PHST- 2026/03/18 13:41 [medline]
+PHST- 2026/06/27 16:09 [medline]
PHST- 2026/03/18 13:41 [pubmed]
PHST- 2026/03/17 12:23 [entrez]
PHST- 2026/03/17 00:00 [pmc-release]
@@ -358,8 +370,8 @@ SO - Cerebellum. 2026 Mar 17;25(2):34. doi: 10.1007/s12311-026-01979-3.
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -533,18 +545,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -572,97 +582,6 @@ PST - ppublish
SO - EBioMedicine. 2026 Mar;125:106190. doi: 10.1016/j.ebiom.2026.106190. Epub 2026
Feb 26.
-PMID- 41612618
-OWN - NLM
-STAT- Publisher
-LR - 20260130
-IS - 1460-2156 (Electronic)
-IS - 0006-8950 (Linking)
-DP - 2026 Jan 30
-TI - Non-Huntington's disease chorea: an expanding universe with acquired causes.
-LID - awag038 [pii]
-LID - 10.1093/brain/awag038 [doi]
-AB - Huntington disease (HD) phenocopies are conditions characterized by a phenotype
- similar to HD but without a pathogenic repeat expansion in the HTT gene. The
- percentage of patients who have an HD phenotype but subsequently are shown not to
- carry a repeat expansion ranges from 2% to 40%, depending on the ethnicity and
- the geographic location of the population studied, as well as the resources
- available for investigation of the underlying causes. In descending order of
- frequency, genetic causes are Huntington Disease-like 2/JHP3, spinocerebellar
- ataxia genes (SCA17/TBP, SCA12/PPP2R2B and SCA3/ATXN3, CACNA1A), and
- frontotemporal dementia genes (C9orf72, and VCP). In addition, it has been
- established that a growing list of acquired causes may also mimic HD, including
- autoimmune illnesses such as primary antiphospholipid syndrome, paraneoplastic
- chorea, and anti-IGLON5. Here we aim to review the epidemiology, aetiology,
- clinical and laboratory findings of the wide range of conditions associated with
- HD phenocopies, and proceed to suggest a practical diagnostic approach to the
- investigation of HD phenocopies taking into account the age at onset, ethnicity,
- and geographic location of individuals.
-CI - (c) The Author(s) 2026. Published by Oxford University Press on behalf of the
- Guarantors of Brain. All rights reserved. For commercial re-use, please contact
- reprints@oup.com for reprints and translation rights for reprints. All other
- permissions can be obtained through our RightsLink service via the Permissions
- link on the article page on our site-for further information please contact
- journals.permissions@oup.com.
-FAU - Cardoso, Francisco
-AU - Cardoso F
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maia, Debora
-AU - Maia D
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Maciel, Ricardo
-AU - Maciel R
-AUID- ORCID: 0000-0003-0027-280X
-AD - Movement Disorders Unit, Neurology Service, Federal University of Minas Gerais,
- Belo Horizonte 30130-100, Brazil.
-FAU - Carr, Jonathan
-AU - Carr J
-AD - Division of Neurology, Department of Medicine, University of Stellenbosch, Cape
- Town 7599, South Africa.
-FAU - Hatano, Taku
-AU - Hatano T
-AUID- ORCID: 0000-0002-6808-0444
-AD - Department of Neurology, Juntendo University Faculty of Medicine, Tokyo 113-8421,
- Japan.
-FAU - Durr, Alexandra
-AU - Durr A
-AUID- ORCID: 0000-0002-8921-7104
-AD - Sorbonne Universite, Institut du Cerveau - Paris Brain Institute - ICM, Inserm,
- CNRS, APHP, University Hospital Pitie-Salpetriere, Paris 75013, France.
-FAU - Poewe, Werner
-AU - Poewe W
-AD - Department of Neurology, Medical University of Innsbruck, Innsbruck 6020,
- Austria.
-LA - eng
-PT - Journal Article
-DEP - 20260130
-PL - England
-TA - Brain
-JT - Brain : a journal of neurology
-JID - 0372537
-SB - IM
-OTO - NOTNLM
-OT - Huntington's disease
-OT - Huntington-like
-OT - autoimmune chorea
-OT - chorea
-OT - genetic chorea
-OT - phenocopies of Huntington's disease
-EDAT- 2026/01/30 06:29
-MHDA- 2026/01/30 06:29
-CRDT- 2026/01/30 00:43
-PHST- 2025/06/15 00:00 [received]
-PHST- 2025/11/23 00:00 [revised]
-PHST- 2026/01/30 06:29 [medline]
-PHST- 2026/01/30 06:29 [pubmed]
-PHST- 2026/01/30 00:43 [entrez]
-AID - 8444888 [pii]
-AID - 10.1093/brain/awag038 [doi]
-PST - aheadofprint
-SO - Brain. 2026 Jan 30:awag038. doi: 10.1093/brain/awag038.
-
PMID- 41009775
OWN - NLM
STAT- MEDLINE
@@ -3033,7 +2952,7 @@ PMID- 35868859
OWN - NLM
STAT- MEDLINE
DCOM- 20260512
-LR - 20260512
+LR - 20260610
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
@@ -3162,6 +3081,8 @@ AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20220830
PL - United States
TA - eNeuro
diff --git a/data/literature/TCF4_batch_01.txt b/data/literature/TCF4_batch_01.txt
index 772cbf76..150aa08a 100644
--- a/data/literature/TCF4_batch_01.txt
+++ b/data/literature/TCF4_batch_01.txt
@@ -3,7 +3,7 @@ PMID- 42180433
OWN - NLM
STAT- MEDLINE
DCOM- 20260525
-LR - 20260525
+LR - 20260630
IS - 1090-0535 (Electronic)
IS - 1090-0535 (Linking)
VI - 31
@@ -99,40 +99,49 @@ AU - Ali M
AD - Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's
University Hospital, University of Leeds, Leeds, UK.
LA - eng
+GR - G1002002/1/MRC Clinical Research Training Fellowship/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20251201
PL - United States
TA - Mol Vis
JT - Molecular vision
JID - 9605351
-RN - 0 (Collagen Type VIII)
-RN - 0 (Transcription Factor 4)
-RN - 0 (SLC4A11 protein, human)
-RN - 0 (TCF4 protein, human)
-RN - 0 (COL8A2 protein, human)
RN - 0 (Zinc Finger E-box-Binding Homeobox 1)
-RN - 0 (ZEB1 protein, human)
+RN - 0 (SLC4A11 protein, human)
RN - 0 (Anion Transport Proteins)
-RN - 0 (Antiporters)
+RN - 0 (ZEB1 protein, human)
+RN - 0 (COL8A2 protein, human)
+RN - 0 (TCF4 protein, human)
+RN - 0 (Transcription Factor 4)
RN - 0 (LOXHD1 protein, human)
+RN - 0 (Antiporters)
+RN - 0 (Collagen Type VIII)
+RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
+RN - 0 (Molecular Probes)
+RN - 0 (Transcription Factors)
RN - 0 (Receptors, Cell Surface)
RN - 0 (Carrier Proteins)
SB - IM
MH - Humans
MH - *Fuchs' Endothelial Dystrophy/genetics
-MH - Collagen Type VIII/genetics
-MH - Transcription Factor 4/genetics
MH - Zinc Finger E-box-Binding Homeobox 1/genetics
MH - Anion Transport Proteins/genetics
-MH - Male
-MH - Antiporters/genetics
+MH - Transcription Factor 4/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
MH - Female
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Receptors, Cell Surface/genetics
-MH - Middle Aged
+MH - Antiporters/genetics
+MH - Collagen Type VIII/genetics
+MH - Male
+MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
+MH - *Molecular Probes
+MH - Transcription Factors/genetics
MH - Aged
-MH - Introns
+MH - Middle Aged
+MH - Exons
+MH - Receptors, Cell Surface/genetics
MH - Genotype
+MH - Sequence Analysis, DNA
MH - Carrier Proteins
PMC - PMC13193275
EDAT- 2026/05/25 12:35
@@ -286,13 +295,18 @@ SO - Acta Ophthalmol. 2026 Apr 20. doi: 10.1111/aos.70144.
PMID- 41944554
OWN - NLM
-STAT- Publisher
-LR - 20260416
+STAT- MEDLINE
+DCOM- 20260610
+LR - 20260610
IS - 1096-9896 (Electronic)
+IS - 0022-3417 (Print)
IS - 0022-3417 (Linking)
-DP - 2026 Apr 7
+VI - 269
+IP - 3
+DP - 2026 Jul
TI - Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and
association with TCF4 CTG18.1 expansion(dagger).
+PG - 262-264
LID - 10.1002/path.70057 [doi]
AB - Late-onset Fuchs endothelial corneal dystrophy (FECD) is commonly framed as a
corneal endothelial disease characterised by guttae accumulation and progressive
@@ -344,7 +358,17 @@ PL - England
TA - J Pathol
JT - The Journal of pathology
JID - 0204634
+RN - 0 (Transcription Factor 4)
+RN - 0 (TCF4 protein, human)
SB - IM
+MH - Humans
+MH - *Fuchs' Endothelial Dystrophy/genetics/pathology
+MH - *Descemet Membrane/pathology
+MH - Phenotype
+MH - *Transcription Factor 4/genetics
+MH - *Trinucleotide Repeat Expansion
+MH - Genetic Predisposition to Disease
+PMC - PMC13238289
OTO - NOTNLM
OT - CTG18.1 trinucleotide repeat expansion
OT - Descemet's membrane
@@ -353,16 +377,19 @@ OT - corneal endothelium
OT - heterogeneity
OT - pathology
EDAT- 2026/04/07 12:33
-MHDA- 2026/04/07 12:33
+MHDA- 2026/06/11 05:39
+PMCR- 2026/06/05
CRDT- 2026/04/07 08:33
PHST- 2026/02/21 00:00 [received]
PHST- 2026/02/26 00:00 [accepted]
+PHST- 2026/06/11 05:39 [medline]
PHST- 2026/04/07 12:33 [pubmed]
-PHST- 2026/04/07 12:33 [medline]
PHST- 2026/04/07 08:33 [entrez]
+PHST- 2026/06/05 00:00 [pmc-release]
+AID - PATH70057 [pii]
AID - 10.1002/path.70057 [doi]
-PST - aheadofprint
-SO - J Pathol. 2026 Apr 7. doi: 10.1002/path.70057.
+PST - ppublish
+SO - J Pathol. 2026 Jul;269(3):262-264. doi: 10.1002/path.70057. Epub 2026 Apr 7.
PMID- 41944537
OWN - NLM
@@ -429,8 +456,8 @@ SO - J Pathol. 2026 Apr 7. doi: 10.1002/path.70062.
PMID- 41865104
OWN - NLM
STAT- MEDLINE
-DCOM- 20260506
-LR - 20260509
+DCOM- 20260620
+LR - 20260620
IS - 2045-2322 (Electronic)
IS - 2045-2322 (Linking)
VI - 16
@@ -547,14 +574,13 @@ RN - 0 (Transcription Factor 4)
RN - 0 (TCF4 protein, human)
RN - 0 (Proteome)
SB - IM
-MH - Humans
MH - *Fuchs' Endothelial Dystrophy/genetics/metabolism/pathology
MH - *Transcription Factor 4/genetics/metabolism
-MH - *Trinucleotide Repeat Expansion
-MH - Proteomics/methods
-MH - *Proteome/genetics
+MH - Humans
+MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Proteomics/methods
+MH - *Proteome/genetics/metabolism
MH - Protein Interaction Maps
-MH - CRISPR-Cas Systems
PMC - PMC13149823
COIS- Competing interests: Naoki Okumura and Noriko Koizumi are co-founders of
ActualEyes Inc., which is developing novel treatments for Fuchs endothelial
@@ -579,7 +605,7 @@ PMID- 41736702
OWN - NLM
STAT- MEDLINE
DCOM- 20260505
-LR - 20260507
+LR - 20260613
IS - 1096-9896 (Electronic)
IS - 0022-3417 (Print)
IS - 0022-3417 (Linking)
@@ -707,21 +733,22 @@ JID - 0204634
RN - 0 (Transcription Factor 4)
RN - 0 (TCF4 protein, human)
RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
+RN - 0 (Transcription Factors)
SB - IM
MH - Humans
-MH - *Fuchs' Endothelial Dystrophy/genetics/pathology/classification/surgery
+MH - *Fuchs' Endothelial Dystrophy/genetics/pathology/classification
MH - Transcription Factor 4/genetics
-MH - *Trinucleotide Repeat Expansion
-MH - Male
-MH - Aged
-MH - Female
-MH - Middle Aged
-MH - Aged, 80 and over
-MH - Descemet Membrane/pathology
-MH - *Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
+MH - *Trinucleotide Repeat Expansion/genetics
MH - Genetic Predisposition to Disease
+MH - *Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
+MH - Descemet Membrane/pathology
+MH - Female
MH - Phenotype
+MH - Male
+MH - Aged
+MH - Transcription Factors/genetics
MH - Endothelium, Corneal/pathology
+MH - Extracellular Matrix/pathology
PMC - PMC13140138
OTO - NOTNLM
OT - CTG18.1 trinucleotide repeat expansion
@@ -970,8 +997,8 @@ SO - J Adv Res. 2026 Feb 17:S2090-1232(26)00163-3. doi: 10.1016/j.jare.2026.02.
PMID- 41562921
OWN - NLM
STAT- MEDLINE
-DCOM- 20260121
-LR - 20260125
+DCOM- 20260630
+LR - 20260630
IS - 2076-3271 (Electronic)
IS - 2076-3271 (Linking)
VI - 14
@@ -1079,24 +1106,21 @@ JT - Medical sciences (Basel, Switzerland)
JID - 101629322
RN - 0 (Transcription Factor 4)
RN - 0 (TCF4 protein, human)
-RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
-RN - 0 (Transcription Factors)
SB - IM
MH - Humans
MH - *Fuchs' Endothelial Dystrophy/genetics/pathology
-MH - Transcription Factor 4/genetics
-MH - Male
+MH - *Transcription Factor 4/genetics
MH - Female
-MH - Middle Aged
+MH - Male
MH - *Trinucleotide Repeat Expansion/genetics
-MH - Aged
MH - Longitudinal Studies
-MH - Disease Progression
-MH - Severity of Illness Index
-MH - *Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics
-MH - *Transcription Factors/genetics
+MH - Aged
+MH - Middle Aged
MH - Prospective Studies
MH - Genotype
+MH - Disease Progression
+MH - *Trinucleotide Repeats/genetics
+MH - Severity of Illness Index
PMC - PMC12821436
OTO - NOTNLM
OT - CTG trinucleotide repeat expansion
@@ -1122,8 +1146,9 @@ SO - Med Sci (Basel). 2026 Jan 7;14(1):31. doi: 10.3390/medsci14010031.
PMID- 41533935
OWN - NLM
-STAT- In-Process
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 1552-5783 (Electronic)
IS - 0146-0404 (Print)
IS - 0146-0404 (Linking)
@@ -1204,26 +1229,23 @@ JT - Investigative ophthalmology & visual science
JID - 7703701
RN - 4TI98Z838E (Estradiol)
RN - 0 (Transforming Growth Factor beta)
-RN - 0 (Collagen Type VIII)
SB - IM
MH - Animals
-MH - *Fuchs' Endothelial Dystrophy/metabolism/pathology/drug therapy/prevention &
- control/genetics
-MH - Disease Models, Animal
MH - Mice
-MH - *Estradiol/pharmacology/therapeutic use/administration & dosage
+MH - Disease Models, Animal
MH - Disease Progression
-MH - Humans
+MH - *Estradiol/pharmacology/therapeutic use
+MH - *Fuchs' Endothelial Dystrophy/metabolism/drug therapy/pathology/prevention &
+ control/genetics
MH - Blotting, Western
MH - Signal Transduction/drug effects
-MH - Endothelium, Corneal/pathology/metabolism/drug effects
-MH - Epithelial-Mesenchymal Transition/drug effects
-MH - Female
-MH - Cells, Cultured
MH - Transforming Growth Factor beta/metabolism
-MH - Extracellular Matrix/metabolism/drug effects
+MH - Humans
+MH - Female
+MH - Epithelial-Mesenchymal Transition/drug effects
+MH - Endothelium, Corneal/metabolism/drug effects/pathology
MH - Mice, Inbred C57BL
-MH - Collagen Type VIII/genetics
+MH - Extracellular Matrix/metabolism/drug effects
PMC - PMC12742592
COIS- Disclosure: I. Oka, None; S. Fujimoto, None; T. Fukui, None; K. Mayumi, None; T.
Tourtas, None; U. Schlotzer-Schrehardt, None; F. Kruse, None; A.S. Jun, None; N.
@@ -1245,7 +1267,7 @@ SO - Invest Ophthalmol Vis Sci. 2025 Dec 1;66(15):64. doi: 10.1167/iovs.66.15.6
PMID- 41501457
OWN - NLM
STAT- In-Process
-LR - 20260228
+LR - 20260603
IS - 1476-4687 (Electronic)
IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
@@ -1357,6 +1379,8 @@ AD - Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical
AD - Program in Medical and Population Genetics, Broad Institute of MIT and Harvard,
Cambridge, MA, USA. poruloh@broadinstitute.org.
LA - eng
+GR - R01 HG013110/HG/NHGRI NIH HHS/United States
+GR - R56 HG012698/HG/NHGRI NIH HHS/United States
PT - Journal Article
DEP - 20260107
PL - England
@@ -2232,7 +2256,7 @@ PMID- 40720054
OWN - NLM
STAT- MEDLINE
DCOM- 20251101
-LR - 20251103
+LR - 20260629
IS - 1179-2000 (Electronic)
IS - 1177-1062 (Print)
IS - 1177-1062 (Linking)
@@ -2313,6 +2337,7 @@ LA - eng
GR - Bushra Alayed/Saudi Arabian Cultural Bureau/
GR - G1002002/1/MRC_/Medical Research Council/United Kingdom
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250728
PL - New Zealand
TA - Mol Diagn Ther
@@ -3991,7 +4016,7 @@ PMID- 38713708
OWN - NLM
STAT- MEDLINE
DCOM- 20240517
-LR - 20240815
+LR - 20260619
IS - 1553-7404 (Electronic)
IS - 1553-7390 (Print)
IS - 1553-7390 (Linking)
@@ -4130,6 +4155,7 @@ AD - University College London Institute of Ophthalmology, London, United Kingd
AD - Moorfields Eye Hospital, London, United Kingdom.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240507
PL - United States
TA - PLoS Genet
diff --git a/data/literature/TYMS_batch_01.txt b/data/literature/TYMS_batch_01.txt
index 57e5c813..5eefa3cf 100644
--- a/data/literature/TYMS_batch_01.txt
+++ b/data/literature/TYMS_batch_01.txt
@@ -2,333 +2,42 @@
PMID- 42083296
OWN - NLM
STAT- Publisher
-LR - 20260505
+LR - 20260615
IS - 2666-2477 (Electronic)
IS - 2666-2477 (Linking)
+VI - 7
+IP - 3
DP - 2026 May 4
-TI - Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes
+TI - Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes
Project.
PG - 100624
LID - S2666-2477(26)00064-3 [pii]
LID - 10.1016/j.xhgg.2026.100624 [doi]
-AB - Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of
+LID - 100624
+AB - Genome sequencing (GS) has emerged as a transformative tool in the diagnosis of
rare diseases with complex phenotypes. This technology uncovers structural,
intronic, non-coding, and mitochondrial variants that traditional methods might
- miss, thus facilitating the understanding of the underlying genomic basis of
- human disorders. We enrolled 10305 patients with suspected rare diseases or
+ miss, thereby facilitating the understanding of the underlying genomic basis of
+ human disorders. We enrolled 10,305 patients with suspected rare diseases or
hereditary cancer risk syndromes from 21 centers throughout Brazil. Their genomes
were sequenced with short, paired-end reads, and diagnostic reports were provided
- for 9448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of
- all positive reports had GS-exclusive findings (e.g. short copy number variants
- overlapping fewer than three exons, deep intronic variants, short tandem repeats
- expansions, mitochondrial structural variants - usually not detected by other
+ for 9,448 of these patients. The overall diagnostic yield was 35.6%, and 4.6% of
+ all positive reports had GS-exclusive findings (e.g., short copy-number variants
+ overlapping fewer than three exons, deep intronic variants, short tandem repeat
+ expansions, and mitochondrial structural variants-usually not detected by other
diagnostic tests such as exome sequencing). Preliminary analysis of transcriptome
- sequencing (TS) or long-read GS combined with the GS interpretation provided a
- small but welcome improvement in diagnostic yield (0.1% and 1.0% of positive
- reports, respectively). Almost 3200 variant/phenotype interpretations were
- submitted to ClinVar. GS is proving to be an invaluable resource for shortening
- the diagnostic odyssey of patients with rare diseases, providing crucial genomic
- diagnostics, and enriching genetic databases with variant interpretations from
+ sequencing (TS) or long-read GS combined with GS interpretation provided a small
+ but welcome improvement in diagnostic yield (0.1% and 1.0% of positive reports,
+ respectively). Almost 3,200 variant/phenotype interpretations were submitted to
+ ClinVar. GS is proving to be an invaluable resource for shortening the diagnostic
+ odyssey of patients with rare diseases, providing crucial genomic diagnostics,
+ and enriching genetic databases with variant interpretations from
underrepresented populations. Therefore, GS has the potential to significantly
enhance the precision of healthcare in genetically diverse populations.
CI - Copyright (c) 2026 The Author(s). Published by Elsevier Inc. All rights reserved.
+CN - Brazilian Rare Genomes Project Consortium. Electronic address:
+ antonio.campos@einstein.br
CN - Brazilian Rare Genomes Project Consortium
-FAU - Campos Coelho, Antonio Victor
-AU - Campos Coelho AV
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil. Electronic address: antonio.campos@einstein.br.
-FAU - Sales de Albuquerque, Rafael
-AU - Sales de Albuquerque R
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Gomes, Catarina Dos Santos
-AU - Gomes CDS
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Bandeira do Nascimento Junior, Jose
-AU - Bandeira do Nascimento Junior J
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Santos de Oliveira, Gustavo
-AU - Santos de Oliveira G
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Silva Moura, Livia Maria
-AU - Silva Moura LM
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Mofatto, Luciana Souto
-AU - Mofatto LS
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Muniz Guedes, Rafael Lucas
-AU - Muniz Guedes RL
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Sequeira Barreiro, Rodrigo Araujo
-AU - Sequeira Barreiro RA
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Caraciolo, Marcel Pinheiro
-AU - Caraciolo MP
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Paula de Andrade Oliveira, Ana
-AU - Paula de Andrade Oliveira A
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Barbosa Teixeira, Anne Caroline
-AU - Barbosa Teixeira AC
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Cordeiro de Azevedo, Bruna Mascaro
-AU - Cordeiro de Azevedo BM
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Carlos, Carolina Dias
-AU - Carlos CD
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Santos de Santana, Lucas
-AU - Santos de Santana L
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Cadena da Matta, Marina
-AU - Cadena da Matta M
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Lima, Matheus Martinelli
-AU - Lima MM
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Zurro, Nuria Bengala
-AU - Zurro NB
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Yamada, Renata Yoshiko
-AU - Yamada RY
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Cintra, Vivian Pedigone
-AU - Cintra VP
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Campilongo, Gabriela Pereira
-AU - Campilongo GP
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Cherulli Colichio, Gabriela Borges
-AU - Cherulli Colichio GB
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Ribeiro da Silva, Renata Martins
-AU - Ribeiro da Silva RM
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - D'Angioli Costa Quaio, Caio Robledo
-AU - D'Angioli Costa Quaio CR
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Moreno, Carolina Araujo
-AU - Moreno CA
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Perrone, Eduardo
-AU - Perrone E
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil; Universidade Federal de Sao Paulo, Departamento de Morfologia
- e Genetica, Rua Botucatu 740, Sao Paulo 04023-000, Brazil.
-FAU - Araujo Espolaor, Jessica Grasiela
-AU - Araujo Espolaor JG
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Marques Prota, Joana Rosa
-AU - Marques Prota JR
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Magliocco Ceroni, Jose Ricardo
-AU - Magliocco Ceroni JR
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Chen, Kelin
-AU - Chen K
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Virmond, Luiza do Amaral
-AU - Virmond LDA
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - de Franca Basto Silva, Marina
-AU - de Franca Basto Silva M
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Migliavacca, Michele Patricia
-AU - Migliavacca MP
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Minillo, Renata Moldenhauer
-AU - Minillo RM
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Tonholo Silva, Thiago Yoshinaga
-AU - Tonholo Silva TY
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - de Oliveira Pelegrino, Karla
-AU - de Oliveira Pelegrino K
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Garcia Cunha, Ana Luiza
-AU - Garcia Cunha AL
-AD - Hospital Infantil Joao Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo
- Horizonte 30130-110, Brazil.
-FAU - de Souza Lima, Joziele
-AU - de Souza Lima J
-AD - Hospital Infantil Joao Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo
- Horizonte 30130-110, Brazil.
-FAU - Grumach, Anete Sevciovic
-AU - Grumach AS
-AD - Centro Universitario Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000,
- Santo Andre 09060-870, Brazil.
-FAU - Barbosa, Caio Parente
-AU - Barbosa CP
-AD - Centro Universitario Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000,
- Santo Andre 09060-870, Brazil.
-FAU - Acosta, Angelina Xavier
-AU - Acosta AX
-AD - Hospital Prof. Edgar Santos (Hupes-UFBA), Avenida Augusto Viana Setor Genetica
- Medica s/n, Salvador 40110-060, Brazil.
-FAU - Correa, Paula Brito
-AU - Correa PB
-AD - Hospital Prof. Edgar Santos (Hupes-UFBA), Avenida Augusto Viana Setor Genetica
- Medica s/n, Salvador 40110-060, Brazil.
-FAU - Cavalcanti, Denise Pontes
-AU - Cavalcanti DP
-AD - Departamento de Genetica Medica, FCM, Universidade Estadual de Campinas
- (UNICAMP), Rua Tessalia Vieira de Camargo 126, Campinas 13083-887, Brazil.
-FAU - Steiner, Carlos Eduardo
-AU - Steiner CE
-AD - Departamento de Genetica Medica, FCM, Universidade Estadual de Campinas
- (UNICAMP), Rua Tessalia Vieira de Camargo 126, Campinas 13083-887, Brazil.
-FAU - Ribeiro, Erlane Marques
-AU - Ribeiro EM
-AD - Hospital Infantil Albert Sabin (HIAS), Rua Tertuliano Sales 544, Fortaleza
- 60410-794, Brazil.
-FAU - William da Silva Meireles, Wallace
-AU - William da Silva Meireles W
-AD - Hospital Infantil Albert Sabin (HIAS), Rua Tertuliano Sales 544, Fortaleza
- 60410-794, Brazil.
-FAU - Araujo Felix Adjuto, Giselle Maria
-AU - Araujo Felix Adjuto GM
-AD - Hospital de Apoio de Brasilia (HAB DF), Setor Noroeste AENW Lote A 3, Brasilia
- 70684-831, Brazil.
-FAU - Doederlein Schwartz, Ida Vanessa
-AU - Doederlein Schwartz IV
-AD - Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto
- Alegre 90035-903, Brazil.
-FAU - Felix, Temis Maria
-AU - Felix TM
-AD - Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto
- Alegre 90035-903, Brazil.
-FAU - Douglas Paes Barreto, Irma Cecilia
-AU - Douglas Paes Barreto IC
-AD - Centro Universitario do Estado do Para (CESUPA), Avenida Governador Jose Malcher
- 1242, Belem 66060-230, Brazil.
-FAU - Souto El Husny, Antonette
-AU - Souto El Husny A
-AD - Centro Universitario do Estado do Para (CESUPA), Avenida Governador Jose Malcher
- 1242, Belem 66060-230, Brazil.
-FAU - Melo de Cerqueira Maia, Jussara
-AU - Melo de Cerqueira Maia J
-AD - Hospital Universitario Onofre Lopes, Universidade Federal do Rio Grande do Norte,
- Departamento de Pediatria (HUOL/UFRN), Avenida Nilo Pecanha 620, Natal 59012-300,
- Brazil.
-FAU - Dantas, Vera Maria
-AU - Dantas VM
-AD - Hospital Universitario Onofre Lopes, Universidade Federal do Rio Grande do Norte,
- Departamento de Pediatria (HUOL/UFRN), Avenida Nilo Pecanha 620, Natal 59012-300,
- Brazil.
-FAU - Helena de Oliveira Cordeiro, Lucia
-AU - Helena de Oliveira Cordeiro L
-AD - Departamento de Medicina Clinica, Universidade Federal de Pernambuco (UFPE),
- Avenida Professor Moraes Rego 1235, Recife 50670-901, Brazil.
-FAU - Braz, Luiza Zagne
-AU - Braz LZ
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Sales Carneiro Sampaio, Magda Maria
-AU - Sales Carneiro Sampaio MM
-AD - Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo
- (HCFMUSP), Rua Doutor Ovidio Pires de Campos 225, Sao Paulo 05403-010, Brazil.
-FAU - Schmitz Ferreira Santos, Mara Lucia
-AU - Schmitz Ferreira Santos ML
-AD - Hospital de Criancas Cesar Pernetta e Hospital Pequeno Principe, Rua
- Desembargador Motta 1070, Curitiba 80250-060, Brazil.
-FAU - Curiati, Marco Antonio
-AU - Curiati MA
-AD - Universidade Federal de Sao Paulo, Centro de Referencia em Erro Inato do
- metabolismo (CREIM), Rua coronel Lisboa 957, Sao Paulo 04020-040, Brazil.
-FAU - Teresinha de Oliveira Cardoso, Maria
-AU - Teresinha de Oliveira Cardoso M
-AD - Centro de Referencia em Doencas Raras (UGEN HAB/SES-DF), Avenida L2 Sul SGAS
- Quadra 608 - Modulo A, Brasilia 70203-900, Brazil; Universidade Catolica De
- Brasilia (UCB), QS 07 Lote 01, Brasilia 71966-700, Brazil.
-FAU - Alves da Silva Rosa, Maria Teresa
-AU - Alves da Silva Rosa MT
-AD - Centro de Referencia em Doencas Raras (UGEN HAB/SES-DF), Avenida L2 Sul SGAS
- Quadra 608 - Modulo A, Brasilia 70203-900, Brazil; Universidade Catolica De
- Brasilia (UCB), QS 07 Lote 01, Brasilia 71966-700, Brazil.
-FAU - Leme Ferriani, Mariana Paes
-AU - Leme Ferriani MP
-AD - Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto (HCFMRP), Rua
- Tenente Catao Roxo 3900, Ribeirao Preto 14015-010, Brazil.
-FAU - Ramos, Ester Silveira
-AU - Ramos ES
-AD - Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto (HCFMRP), Rua
- Tenente Catao Roxo 3900, Ribeirao Preto 14015-010, Brazil.
-FAU - Lyra, Paula Teixeira
-AU - Lyra PT
-AD - Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Rua dos
- Coelhos 300, Recife 50070-902, Brazil.
-FAU - Boy da Silva, Raquel Tavares
-AU - Boy da Silva RT
-AD - Hospital Universitario Pedro Ernesto - Universidade do Estado do Rio de Janeiro
- (HUPE/UERJ), Boulevard Vinte e Oito de Setembro 77, Rio de Janeiro 20551-030,
- Brazil.
-FAU - Ximenes de Mendonca Sobreira, Anna Candida
-AU - Ximenes de Mendonca Sobreira AC
-AD - Hospital Universitario Pedro Ernesto - Universidade do Estado do Rio de Janeiro
- (HUPE/UERJ), Boulevard Vinte e Oito de Setembro 77, Rio de Janeiro 20551-030,
- Brazil.
-FAU - Suzana Amorim Boa Sorte, Tatiana Regia
-AU - Suzana Amorim Boa Sorte TR
-AD - Associacao de Pais e Amigos dos Excepcionais - Salvador (APAE Salvador), Rua
- Espirito Santo 575, Salvador 41830-120, Brazil.
-FAU - Calvao Dumas, Melissa Rossi
-AU - Calvao Dumas MR
-AD - Associacao de Pais e Amigos dos Excepcionais - Salvador (APAE Salvador), Rua
- Espirito Santo 575, Salvador 41830-120, Brazil.
-FAU - Teixeira, Thais Bomfim
-AU - Teixeira TB
-AD - Associacao de Pais e Amigos dos Excepcionais - Anapolis (APAE Anapolis), Rua
- Galileu Batista Arantes 350, Anapolis 75075-570, Brazil.
-FAU - Gomes Carneiro, Vandre Cabral
-AU - Gomes Carneiro VC
-AD - Hospital de Cancer de Pernambuco (HCPE), Avenida Cruz Cabuga 1597, Recife
- 50040-000, Brazil; Instituto de Medicina Integral Professor Fernando Figueira
- (IMIP), Rua dos Coelhos 300, Recife 50070-902, Brazil.
-FAU - Mota, Patricia Silva
-AU - Mota PS
-AD - Hospital de Cancer de Pernambuco (HCPE), Avenida Cruz Cabuga 1597, Recife
- 50040-000, Brazil; Instituto de Medicina Integral Professor Fernando Figueira
- (IMIP), Rua dos Coelhos 300, Recife 50070-902, Brazil.
-FAU - Ferreira de Almeida, Tatiana
-AU - Ferreira de Almeida T
-AD - Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, Sao Paulo
- 05652-900, Brazil.
-FAU - Oliveira, Joao Bosco
-AU - Oliveira JB
-AD - Neogenomica, Rua Frei Matias Teves 285, Recife 50070-465, Brazil.
LA - eng
PT - Journal Article
DEP - 20260504
@@ -337,19 +46,172 @@ TA - HGG Adv
JT - HGG advances
JID - 101772885
SB - IM
+PMC - PMC13285375
+OTO - NOTNLM
+OT - Mendelian diseases
+OT - genetic testing
+OT - genomics
+COIS- Declaration of interests The authors declare no competing interests.
+FIR - Coelho, Antonio Victor Campos
+IR - Coelho AVC
+FIR - Sales de Albuquerque, Rafael
+IR - Sales de Albuquerque R
+FIR - Gomes, Catarina Dos Santos
+IR - Gomes CDS
+FIR - Bandeira do Nascimento Junior, Jose
+IR - Bandeira do Nascimento Junior J
+FIR - Santos de Oliveira, Gustavo
+IR - Santos de Oliveira G
+FIR - Silva Moura, Livia Maria
+IR - Silva Moura LM
+FIR - Mofatto, Luciana Souto
+IR - Mofatto LS
+FIR - Muniz Guedes, Rafael Lucas
+IR - Muniz Guedes RL
+FIR - Sequeira Barreiro, Rodrigo Araujo
+IR - Sequeira Barreiro RA
+FIR - Caraciolo, Marcel Pinheiro
+IR - Caraciolo MP
+FIR - Paula de Andrade Oliveira, Ana
+IR - Paula de Andrade Oliveira A
+FIR - Barbosa Teixeira, Anne Caroline
+IR - Barbosa Teixeira AC
+FIR - Cordeiro de Azevedo, Bruna Mascaro
+IR - Cordeiro de Azevedo BM
+FIR - Carlos, Carolina Dias
+IR - Carlos CD
+FIR - Santos de Santana, Lucas
+IR - Santos de Santana L
+FIR - Cadena da Matta, Marina
+IR - Cadena da Matta M
+FIR - Lima, Matheus Martinelli
+IR - Lima MM
+FIR - Zurro, Nuria Bengala
+IR - Zurro NB
+FIR - Yamada, Renata Yoshiko
+IR - Yamada RY
+FIR - Cintra, Vivian Pedigone
+IR - Cintra VP
+FIR - Campilongo, Gabriela Pereira
+IR - Campilongo GP
+FIR - Cherulli Colichio, Gabriela Borges
+IR - Cherulli Colichio GB
+FIR - Ribeiro da Silva, Renata Martins
+IR - Ribeiro da Silva RM
+FIR - D'Angioli Costa Quaio, Caio Robledo
+IR - D'Angioli Costa Quaio CR
+FIR - Moreno, Carolina Araujo
+IR - Moreno CA
+FIR - Perrone, Eduardo
+IR - Perrone E
+FIR - Araujo Espolaor, Jessica Grasiela
+IR - Araujo Espolaor JG
+FIR - Marques Prota, Joana Rosa
+IR - Marques Prota JR
+FIR - Magliocco Ceroni, Jose Ricardo
+IR - Magliocco Ceroni JR
+FIR - Chen, Kelin
+IR - Chen K
+FIR - Virmond, Luiza do Amaral
+IR - Virmond LDA
+FIR - de Franca Basto Silva, Marina
+IR - de Franca Basto Silva M
+FIR - Migliavacca, Michele Patricia
+IR - Migliavacca MP
+FIR - Minillo, Renata Moldenhauer
+IR - Minillo RM
+FIR - Tonholo Silva, Thiago Yoshinaga
+IR - Tonholo Silva TY
+FIR - de Oliveira Pelegrino, Karla
+IR - de Oliveira Pelegrino K
+FIR - Garcia Cunha, Ana Luiza
+IR - Garcia Cunha AL
+FIR - de Souza Lima, Joziele
+IR - de Souza Lima J
+FIR - Grumach, Anete Sevciovic
+IR - Grumach AS
+FIR - Barbosa, Caio Parente
+IR - Barbosa CP
+FIR - Acosta, Angelina Xavier
+IR - Acosta AX
+FIR - Correa, Paula Brito
+IR - Correa PB
+FIR - Cavalcanti, Denise Pontes
+IR - Cavalcanti DP
+FIR - Steiner, Carlos Eduardo
+IR - Steiner CE
+FIR - Ribeiro, Erlane Marques
+IR - Ribeiro EM
+FIR - William da Silva Meireles, Wallace
+IR - William da Silva Meireles W
+FIR - Araujo Felix Adjuto, Giselle Maria
+IR - Araujo Felix Adjuto GM
+FIR - Doederlein Schwartz, Ida Vanessa
+IR - Doederlein Schwartz IV
+FIR - Felix, Temis Maria
+IR - Felix TM
+FIR - Douglas Paes Barreto, Irma Cecilia
+IR - Douglas Paes Barreto IC
+FIR - Souto El Husny, Antonette
+IR - Souto El Husny A
+FIR - Melo de Cerqueira Maia, Jussara
+IR - Melo de Cerqueira Maia J
+FIR - Dantas, Vera Maria
+IR - Dantas VM
+FIR - Helena de Oliveira Cordeiro, Lucia
+IR - Helena de Oliveira Cordeiro L
+FIR - Braz, Luiza Zagne
+IR - Braz LZ
+FIR - Sales Carneiro Sampaio, Magda Maria
+IR - Sales Carneiro Sampaio MM
+FIR - Schmitz Ferreira Santos, Mara Lucia
+IR - Schmitz Ferreira Santos ML
+FIR - Curiati, Marco Antonio
+IR - Curiati MA
+FIR - Teresinha de Oliveira Cardoso, Maria
+IR - Teresinha de Oliveira Cardoso M
+FIR - Alves da Silva Rosa, Maria Teresa
+IR - Alves da Silva Rosa MT
+FIR - Leme Ferriani, Mariana Paes
+IR - Leme Ferriani MP
+FIR - Ramos, Ester Silveira
+IR - Ramos ES
+FIR - Lyra, Paula Teixeira
+IR - Lyra PT
+FIR - Boy da Silva, Raquel Tavares
+IR - Boy da Silva RT
+FIR - Ximenes de Mendonca Sobreira, Anna Candida
+IR - Ximenes de Mendonca Sobreira AC
+FIR - Suzana Amorim Boa Sorte, Tatiana Regia
+IR - Suzana Amorim Boa Sorte TR
+FIR - Calvao Dumas, Melissa Rossi
+IR - Calvao Dumas MR
+FIR - Teixeira, Thais Bomfim
+IR - Teixeira TB
+FIR - Gomes Carneiro, Vandre Cabral
+IR - Gomes Carneiro VC
+FIR - Mota, Patricia Silva
+IR - Mota PS
+FIR - Ferreira de Almeida, Tatiana
+IR - Ferreira de Almeida T
+FIR - Oliveira, Joao Bosco
+IR - Oliveira JB
EDAT- 2026/05/05 06:33
MHDA- 2026/05/05 06:33
+PMCR- 2026/05/04
CRDT- 2026/05/05 01:36
PHST- 2026/01/09 00:00 [received]
PHST- 2026/04/28 00:00 [revised]
PHST- 2026/04/28 00:00 [accepted]
-PHST- 2026/05/05 06:33 [medline]
PHST- 2026/05/05 06:33 [pubmed]
+PHST- 2026/05/05 06:33 [medline]
PHST- 2026/05/05 01:36 [entrez]
+PHST- 2026/05/04 00:00 [pmc-release]
AID - S2666-2477(26)00064-3 [pii]
+AID - 100624 [pii]
AID - 10.1016/j.xhgg.2026.100624 [doi]
PST - aheadofprint
-SO - HGG Adv. 2026 May 4:100624. doi: 10.1016/j.xhgg.2026.100624.
+SO - HGG Adv. 2026 May 4;7(3):100624. doi: 10.1016/j.xhgg.2026.100624.
PMID- 41507280
OWN - NLM
diff --git a/data/literature/VWA1_batch_01.txt b/data/literature/VWA1_batch_01.txt
index a639515c..f34fa88c 100644
--- a/data/literature/VWA1_batch_01.txt
+++ b/data/literature/VWA1_batch_01.txt
@@ -2,8 +2,8 @@
PMID- 42003611
OWN - NLM
STAT- MEDLINE
-DCOM- 20260513
-LR - 20260515
+DCOM- 20260622
+LR - 20260622
IS - 2150-7511 (Electronic)
VI - 17
IP - 5
diff --git a/data/literature/ZFHX3_batch_01.txt b/data/literature/ZFHX3_batch_01.txt
index 5f8a9582..33836d2a 100644
--- a/data/literature/ZFHX3_batch_01.txt
+++ b/data/literature/ZFHX3_batch_01.txt
@@ -1,4 +1,746 @@
+PMID- 42236257
+OWN - NLM
+STAT- Publisher
+LR - 20260603
+IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Linking)
+DP - 2026 Jun 3
+TI - Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia
+ Cohort.
+LID - 10.1002/mds.70387 [doi]
+AB - BACKGROUND: Spinocerebellar ataxia 4 (SCA4) is a late-onset dominant ataxia with
+ neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to
+ originate from a Swedish founder event. The GC-rich expansion is highly
+ thermodynamically stable, posing challenges for standard clinical genetic testing
+ methods. Development of a high-throughput relatively inexpensive detection method
+ would benefit both clinical diagnostic testing and large-scale research
+ applications. OBJECTIVE: Using a cost-effective high-throughput polymerase chain
+ reaction (PCR) assay, we assessed the frequency of SCA4 repeat expansion in an
+ undiagnosed US ataxia cohort. METHOD: Primers flanking the ZFHX3 repeat region
+ were used under optimized PCR conditions to assess for expanded GGC repeats in
+ 687 undiagnosed ataxia patients. Repeat size was determined by fragment analysis
+ and orthogonally confirmed with long-read sequencing (Oxford Nanopore
+ Technologies). RESULTS: We identified pathogenic SCA4 expansions in three
+ families with cerebellar ataxia and sensory/autonomic neuropathy. The pathogenic
+ alleles were confirmed to be of Swedish ancestry using comprehensive haplotype
+ analysis of 14 single nucleotide polymorphisms (SNPs) previously associated with
+ ZFHX3 expansion. Two families carried all 14 SNPs, suggesting this may represent
+ an ancestral haplotype. Utilizing a minimal haplotype present in all reported
+ patients, we bioinformatically assessed 852 additional subjects, for a total of
+ 1539 screened, but did not identify additional SCA4 patients. CONCLUSION: Using a
+ high-throughput cost-effective PCR assay, we identified three SCA4 families in a
+ large US ataxia cohort. Haplotype analysis supports a common Swedish founder
+ allele, consistent with previously reported SCA4 cases. SCA4 diagnostic testing
+ is recommended for all patients of Swedish ancestry with undiagnosed ataxia. (c)
+ 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on
+ behalf of International Parkinson and Movement Disorder Society.
+CI - (c) 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on
+ behalf of International Parkinson and Movement Disorder Society.
+FAU - Chen, Annie
+AU - Chen A
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Avadhani, Udbhav
+AU - Avadhani U
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Ngo, Kathie
+AU - Ngo K
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Corona, Rosario I
+AU - Corona RI
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Neto, George de V Carvalho
+AU - Neto GVC
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Figueroa, Karla P
+AU - Figueroa KP
+AD - Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
+CN - Undiagnosed Diseases Network
+FAU - Perlman, Susan
+AU - Perlman S
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Pulst, Stefan M
+AU - Pulst SM
+AD - Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
+FAU - Nelson, Stanley F
+AU - Nelson SF
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Wong, Darice
+AU - Wong D
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Clinical Neurogenomics Research Center, UCLA Department of Neurology, David
+ Geffen School of Medicine, University of California, Los Angeles, Los Angeles,
+ California, USA.
+FAU - Fogel, Brent L
+AU - Fogel BL
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Clinical Neurogenomics Research Center, UCLA Department of Neurology, David
+ Geffen School of Medicine, University of California, Los Angeles, Los Angeles,
+ California, USA.
+LA - eng
+GR - UL1TR001881/TR/NCATS NIH HHS/United States
+GR - X01NS141718/NH/NIH HHS/United States
+GR - The UCLA California Center for Rare Diseases/
+GR - Generous donors to the University of California./
+GR - R35NS127253/NS/NINDS NIH HHS/United States
+GR - The Rindlisbacher Endowment for Neurodegeneration Research./
+PT - Journal Article
+DEP - 20260603
+PL - United States
+TA - Mov Disord
+JT - Movement disorders : official journal of the Movement Disorder Society
+JID - 8610688
+SB - IM
+OTO - NOTNLM
+OT - DNA Repeat Expansion
+OT - Genetic Screening
+OT - Haplotypes
+OT - PCR
+OT - Spinocerebellar Ataxia 4
+FIR - Nouraee, Arian
+IR - Nouraee A
+FIR - Prada, Carlos
+IR - Prada C
+FIR - Davis, Erica
+IR - Davis E
+FIR - Yap, Kai Lee
+IR - Yap KL
+FIR - Regan-Fendt, Kelly
+IR - Regan-Fendt K
+FIR - Silva, Maria Paula
+IR - Silva MP
+FIR - McMullen, Patrick
+IR - McMullen P
+FIR - Tran, Alyssa A
+IR - Tran AA
+FIR - Tarakad, Arjun
+IR - Tarakad A
+FIR - Lee, Brendan H
+IR - Lee BH
+FIR - Bacino, Carlos A
+IR - Bacino CA
+FIR - Eng, Christine M
+IR - Eng CM
+FIR - Scott, Daryl A
+IR - Scott DA
+FIR - Seto, Elaine
+IR - Seto E
+FIR - Dai, Hongzheng
+IR - Dai H
+FIR - Chao, Hsiao-Tuan
+IR - Chao HT
+FIR - Bellen, Hugo J
+IR - Bellen HJ
+FIR - Chinn, Ivan
+IR - Chinn I
+FIR - Orengo, James P
+IR - Orengo JP
+FIR - Sninsky, Jared
+IR - Sninsky J
+FIR - Rosenfeld, Jill A
+IR - Rosenfeld JA
+FIR - Worley, Kim
+IR - Worley K
+FIR - Blieden, Lauren
+IR - Blieden L
+FIR - Burrage, Lindsay C
+IR - Burrage LC
+FIR - Potocki, Lorraine
+IR - Potocki L
+FIR - Wangler, Michael F
+IR - Wangler MF
+FIR - Hubshman, Monika Weisz
+IR - Hubshman MW
+FIR - Liu, Pengfei
+IR - Liu P
+FIR - Lewis, Richard A
+IR - Lewis RA
+FIR - Marom, Ronit
+IR - Marom R
+FIR - Nagamani, Sandesh
+IR - Nagamani S
+FIR - Lalani, Seema R
+IR - Lalani SR
+FIR - Ketkar, Shamika
+IR - Ketkar S
+FIR - Yamamoto, Shinya
+IR - Yamamoto S
+FIR - Vogel, Tiphanie P
+IR - Vogel TP
+FIR - Craigen, William J
+IR - Craigen WJ
+FIR - Beggs, Alan H
+IR - Beggs AH
+FIR - Mochida, Ganesh
+IR - Mochida G
+FIR - Berry, Gerard T
+IR - Berry GT
+FIR - Holm, Ingrid A
+IR - Holm IA
+FIR - Rodan, Lance H
+IR - Rodan LH
+FIR - Truong, Tina
+IR - Truong T
+FIR - Chung, Wendy
+IR - Chung W
+FIR - Chiang, David
+IR - Chiang D
+FIR - Rao, Deepak A
+IR - Rao DA
+FIR - Pallais, J Carl
+IR - Pallais JC
+FIR - Loscalzo, Joseph
+IR - Loscalzo J
+FIR - Abdenur, Jose
+IR - Abdenur J
+FIR - Steenari, Maija-Rikka
+IR - Steenari MR
+FIR - Barrick, Rebekah
+IR - Barrick R
+FIR - Chang, Richard
+IR - Chang R
+FIR - Skraban, Cara
+IR - Skraban C
+FIR - Kilich, Gonench
+IR - Kilich G
+FIR - Sullivan, Kathleen
+IR - Sullivan K
+FIR - Rajagopalan, Ramakrishnan
+IR - Rajagopalan R
+FIR - Ganetzky, Rebecca
+IR - Ganetzky R
+FIR - Slavotinek, Anne
+IR - Slavotinek A
+FIR - Mayhew, Christopher
+IR - Mayhew C
+FIR - Mendonca, Eneida
+IR - Mendonca E
+FIR - Guo, Ziyuan
+IR - Guo Z
+FIR - Schoch, Kelly
+IR - Schoch K
+FIR - Mikati, Mohamad
+IR - Mikati M
+FIR - Walley, Nicole M
+IR - Walley NM
+FIR - Spillmann, Rebecca C
+IR - Spillmann RC
+FIR - Shashi, Vandana
+IR - Shashi V
+FIR - Esteves, Cecilia
+IR - Esteves C
+FIR - Glanton, Emily
+IR - Glanton E
+FIR - Kohane, Isaac S
+IR - Kohane IS
+FIR - LeBlanc, Kimberly
+IR - LeBlanc K
+FIR - Kobren, Shilpa N
+IR - Kobren SN
+FIR - Iverson, Ayuko
+IR - Iverson A
+FIR - Gelb, Bruce
+IR - Gelb B
+FIR - Cunningham-Rundles, Charlotte
+IR - Cunningham-Rundles C
+FIR - Gayle, Eric
+IR - Gayle E
+FIR - Jen, Joanna
+IR - Jen J
+FIR - Bier, Louise
+IR - Bier L
+FIR - Barbosa, Mafalda
+IR - Barbosa M
+FIR - Balwani, Manisha
+IR - Balwani M
+FIR - Shadrina, Mariya
+IR - Shadrina M
+FIR - Evard, Rachel
+IR - Evard R
+FIR - Shuman, Saskia
+IR - Shuman S
+FIR - Shin, Susan
+IR - Shin S
+FIR - Graham, Brett H
+IR - Graham BH
+FIR - Conboy, Erin
+IR - Conboy E
+FIR - Vetrini, Francesco
+IR - Vetrini F
+FIR - Treat, Kayla M
+IR - Treat KM
+FIR - Liaqat, Khurram
+IR - Liaqat K
+FIR - Mantcheva, Lili
+IR - Mantcheva L
+FIR - Ware, Stephanie M
+IR - Ware SM
+FIR - Wohler, Elizabeth
+IR - Wohler E
+FIR - Hoover-Fong, Julie
+IR - Hoover-Fong J
+FIR - Page, Kathleen
+IR - Page K
+FIR - Robinson, Matthew
+IR - Robinson M
+FIR - Sobreira, Nara
+IR - Sobreira N
+FIR - Auwaerter, Paul
+IR - Auwaerter P
+FIR - Timp, Winston
+IR - Timp W
+FIR - Manabe, Yuka
+IR - Manabe Y
+FIR - Sweetser, David A
+IR - Sweetser DA
+FIR - High, Frances
+IR - High F
+FIR - Briere, Lauren C
+IR - Briere LC
+FIR - Walker, Melissa
+IR - Walker M
+FIR - Mitchell, Breanna
+IR - Mitchell B
+FIR - Lanpher, Brendan C
+IR - Lanpher BC
+FIR - Oglesbee, Devin
+IR - Oglesbee D
+FIR - Klee, Eric
+IR - Klee E
+FIR - Vairo, Filippo Pinto E
+IR - Vairo FPE
+FIR - Lanza, Ian R
+IR - Lanza IR
+FIR - Darr, Kahlen
+IR - Darr K
+FIR - Mulvihill, Lindsay
+IR - Mulvihill L
+FIR - Schimmenti, Lisa
+IR - Schimmenti L
+FIR - Tan, Queenie
+IR - Tan Q
+FIR - Elkadri, Abdul
+IR - Elkadri A
+FIR - Bordini, Brett
+IR - Bordini B
+FIR - Basel, Donald
+IR - Basel D
+FIR - Verbsky, James
+IR - Verbsky J
+FIR - McCarrier, Julie
+IR - McCarrier J
+FIR - Muriello, Michael
+IR - Muriello M
+FIR - Zimmermann, Michael T
+IR - Zimmermann MT
+FIR - Taylor, Herman
+IR - Taylor H
+FIR - Quarells, Rakale C
+IR - Quarells RC
+FIR - Gropman, Andrea
+IR - Gropman A
+FIR - Pusey Swerdzewski, Barbara N
+IR - Pusey Swerdzewski BN
+FIR - Afzali, Ben
+IR - Afzali B
+FIR - Solomon, Ben
+IR - Solomon B
+FIR - Toro, Camilo
+IR - Toro C
+FIR - Wahl, Colleen E
+IR - Wahl CE
+FIR - Tifft, Cynthia J
+IR - Tifft CJ
+FIR - Adams, David R
+IR - Adams DR
+FIR - Novacic, Donna
+IR - Novacic D
+FIR - Burke, Elizabeth A
+IR - Burke EA
+FIR - Macnamara, Ellen F
+IR - Macnamara EF
+FIR - Rossignol, Francis
+IR - Rossignol F
+FIR - Wood, Heidi
+IR - Wood H
+FIR - Fu, Jiayu
+IR - Fu J
+FIR - Davis, Joie
+IR - Davis J
+FIR - Petcharet, Leoyklang
+IR - Petcharet L
+FIR - Wolfe, Lynne A
+IR - Wolfe LA
+FIR - Delgado, Margaret
+IR - Delgado M
+FIR - Acosta, Maria T
+IR - Acosta MT
+FIR - Morimoto, Marie
+IR - Morimoto M
+FIR - Sabaii, Marla
+IR - Sabaii M
+FIR - Malicdan, May Christine V
+IR - Malicdan MCV
+FIR - Hanchard, Neil
+IR - Hanchard N
+FIR - Jean-Marie, Orpa
+IR - Jean-Marie O
+FIR - D'Souza, Precilla
+IR - D'Souza P
+FIR - Maduro, Valerie V
+IR - Maduro VV
+FIR - Introne, Wendy
+IR - Introne W
+FIR - Gahl, William A
+IR - Gahl WA
+FIR - Huang, Yan
+IR - Huang Y
+FIR - Jobanputra, Vaidehi
+IR - Jobanputra V
+FIR - Chan, Chun-Hung
+IR - Chan CH
+FIR - Ward, D Isum
+IR - Ward DI
+FIR - Bustos, Francisco
+IR - Bustos F
+FIR - Schend, Jason
+IR - Schend J
+FIR - Morgan, Jennifer
+IR - Morgan J
+FIR - Bell, Megan
+IR - Bell M
+FIR - Leitheiser, Miranda
+IR - Leitheiser M
+FIR - Saifeddine, Mohamad
+IR - Saifeddine M
+FIR - Berger, Paul
+IR - Berger P
+FIR - Li, Rachel
+IR - Li R
+FIR - Beagle, Taylor
+IR - Beagle T
+FIR - Shelkowitz, Emily
+IR - Shelkowitz E
+FIR - Allenspach, Eric
+IR - Allenspach E
+FIR - Dipple, Katrina
+IR - Dipple K
+FIR - Perlman, Seth
+IR - Perlman S
+FIR - Martin, Beth A
+IR - Martin BA
+FIR - Reuter, Chloe M
+IR - Reuter CM
+FIR - Bonner, Devon
+IR - Bonner D
+FIR - Ashley, Euan A
+IR - Ashley EA
+FIR - Mendez, Hector Rodrigo
+IR - Mendez HR
+FIR - Tabor, Holly K
+IR - Tabor HK
+FIR - Sampson, Jacinda B
+IR - Sampson JB
+FIR - Hom, Jason
+IR - Hom J
+FIR - Kohler, Jennefer N
+IR - Kohler JN
+FIR - Schymick, Jennifer
+IR - Schymick J
+FIR - Gorzynski, John E
+IR - Gorzynski JE
+FIR - Bernstein, Jonathan A
+IR - Bernstein JA
+FIR - Smith, Kevin S
+IR - Smith KS
+FIR - Keehan, Laura
+IR - Keehan L
+FIR - Wiel, Laurens
+IR - Wiel L
+FIR - Wheeler, Matthew T
+IR - Wheeler MT
+FIR - Halley, Meghan C
+IR - Halley MC
+FIR - Levanto, Mia
+IR - Levanto M
+FIR - Goddard, Page C
+IR - Goddard PC
+FIR - Fisher, Paul G
+IR - Fisher PG
+FIR - Ungar, Rachel A
+IR - Ungar RA
+FIR - Alvarez, Raquel L
+IR - Alvarez RL
+FIR - Marwaha, Shruti
+IR - Marwaha S
+FIR - Montgomery, Stephen B
+IR - Montgomery SB
+FIR - Bachir, Suha
+IR - Bachir S
+FIR - Jensen, Tanner D
+IR - Jensen TD
+FIR - Maurer, Taylor
+IR - Maurer T
+FIR - Coakley, Terra R
+IR - Coakley TR
+FIR - Sayer, Dana
+IR - Sayer D
+FIR - Tousseau, Jennifer
+IR - Tousseau J
+FIR - Foksinska, Aleksandra
+IR - Foksinska A
+FIR - Crouse, Andrew B
+IR - Crouse AB
+FIR - Hurst, Anna
+IR - Hurst A
+FIR - Wilk, Brandon M
+IR - Wilk BM
+FIR - Korf, Bruce R
+IR - Korf BR
+FIR - Worthey, Elizabeth A
+IR - Worthey EA
+FIR - Callaway, Kaitlin
+IR - Callaway K
+FIR - Rodriguez, Martin
+IR - Rodriguez M
+FIR - Might, Matthew
+IR - Might M
+FIR - Lertwilaiwittaya, Pongtawat
+IR - Lertwilaiwittaya P
+FIR - Blackburn, Reaford
+IR - Blackburn R
+FIR - Washington, Teneasha
+IR - Washington T
+FIR - Byrd, William E
+IR - Byrd WE
+FIR - La Spada, Albert R
+IR - La Spada AR
+FIR - Xiao, Changrui
+IR - Xiao C
+FIR - Chao, Elizabeth C
+IR - Chao EC
+FIR - Vilain, Eric
+IR - Vilain E
+FIR - Blanco, Kirsten
+IR - Blanco K
+FIR - Attaripour, Sanaz
+IR - Attaripour S
+FIR - Mozaffar, Tahseen
+IR - Mozaffar T
+FIR - Huang, Alden
+IR - Huang A
+FIR - Vargas, Andres
+IR - Vargas A
+FIR - Fogel, Brent L
+IR - Fogel BL
+FIR - Carvalho, George
+IR - Carvalho G
+FIR - Martinez-Agosto, Julian A
+IR - Martinez-Agosto JA
+FIR - Abi Farraj, Layal F
+IR - Abi Farraj LF
+FIR - Butte, Manish J
+IR - Butte MJ
+FIR - Martin, Martin G
+IR - Martin MG
+FIR - Dorrani, Naghmeh
+IR - Dorrani N
+FIR - Parker, Neil H
+IR - Parker NH
+FIR - Corona, Rosario I
+IR - Corona RI
+FIR - Nelson, Stanley F
+IR - Nelson SF
+FIR - Karasozen, Yigit
+IR - Karasozen Y
+FIR - Smith, Carson A
+IR - Smith CA
+FIR - Barbouth, Deborah
+IR - Barbouth D
+FIR - Bademci, Guney
+IR - Bademci G
+FIR - Gonzalez, Joanna M
+IR - Gonzalez JM
+FIR - Latchman, Kumarie
+IR - Latchman K
+FIR - Peart, LeShon
+IR - Peart L
+FIR - Tekin, Mustafa
+IR - Tekin M
+FIR - Borja, Nicholas
+IR - Borja N
+FIR - Zuchner, Stephan
+IR - Zuchner S
+FIR - Bivona, Stephanie
+IR - Bivona S
+FIR - Thorson, Willa
+IR - Thorson W
+FIR - Westerfield, Monte
+IR - Westerfield M
+FIR - Raper, Anna
+IR - Raper A
+FIR - Rader, Daniel J
+IR - Rader DJ
+FIR - Sirugo, Giorgio
+IR - Sirugo G
+FIR - Quinlan, Aaron
+IR - Quinlan A
+FIR - Ward, Alistair
+IR - Ward A
+FIR - Andrews, Ashley
+IR - Andrews A
+FIR - Welt, Corrine K
+IR - Welt CK
+FIR - Viskochil, Dave
+IR - Viskochil D
+FIR - Baldwin, Erin E
+IR - Baldwin EE
+FIR - Marth, Gabor
+IR - Marth G
+FIR - Carey, John
+IR - Carey J
+FIR - Botto, Lorenzo
+IR - Botto L
+FIR - Velinder, Matt
+IR - Velinder M
+FIR - Longo, Nicola
+IR - Longo N
+FIR - Moretti, Paolo
+IR - Moretti P
+FIR - Bayrak-Toydemir, Pinar
+IR - Bayrak-Toydemir P
+FIR - Overbury, Rebecca
+IR - Overbury R
+FIR - Mao, Rong
+IR - Mao R
+FIR - Butterfield, Russell
+IR - Butterfield R
+FIR - Boyden, Steven
+IR - Boyden S
+FIR - Nicholas, Thomas J
+IR - Nicholas TJ
+FIR - Stergachis, Andrew
+IR - Stergachis A
+FIR - Miller, Danny E
+IR - Miller DE
+FIR - Rosenthal, Elisabeth
+IR - Rosenthal E
+FIR - Blue, Elizabeth
+IR - Blue E
+FIR - Balton, Elsa
+IR - Balton E
+FIR - Hisama, Fuki M
+IR - Hisama FM
+FIR - Jarvik, Gail P
+IR - Jarvik GP
+FIR - Mirzaa, Ghayda
+IR - Mirzaa G
+FIR - Glass, Ian
+IR - Glass I
+FIR - Leppig, Kathleen A
+IR - Leppig KA
+FIR - Wener, Mark
+IR - Wener M
+FIR - Horike-Pyne, Martha
+IR - Horike-Pyne M
+FIR - Bamshad, Michael
+IR - Bamshad M
+FIR - Byers, Peter
+IR - Byers P
+FIR - Kumar, Runjun
+IR - Kumar R
+FIR - Chanprasert, Sirisak
+IR - Chanprasert S
+FIR - Sybert, Virginia
+IR - Sybert V
+FIR - Raskind, Wendy
+IR - Raskind W
+FIR - Krokosky, Alyson
+IR - Krokosky A
+FIR - McMinn, Ashley
+IR - McMinn A
+FIR - Shyr, Cathy
+IR - Shyr C
+FIR - Gamazon, Eric
+IR - Gamazon E
+FIR - Phillips, John A
+IR - Phillips JA
+FIR - Cogan, Joy D
+IR - Cogan JD
+FIR - Ezell, Kimberly
+IR - Ezell K
+FIR - Perera, Lakshitha
+IR - Perera L
+FIR - Bastarache, Lisa
+IR - Bastarache L
+FIR - Rives, Lynette
+IR - Rives L
+FIR - Koziura, Mary
+IR - Koziura M
+FIR - Hamid, Rizwan
+IR - Hamid R
+FIR - Cassini, Thomas
+IR - Cassini T
+FIR - Paul, Alex
+IR - Paul A
+FIR - Kiley, Dana
+IR - Kiley D
+FIR - Wegner, Daniel
+IR - Wegner D
+FIR - Baldridge, Dustin
+IR - Baldridge D
+FIR - Cole, F Sessions
+IR - Cole FS
+FIR - Wambach, Jennifer
+IR - Wambach J
+FIR - Shin, Jimann
+IR - Shin J
+FIR - Sisco, Kathleen A
+IR - Sisco KA
+FIR - Solnica-Krezel, Lilianna
+IR - Solnica-Krezel L
+FIR - Dickson, Patricia
+IR - Dickson P
+FIR - Pak, Stephen C
+IR - Pak SC
+FIR - Schedl, Timothy
+IR - Schedl T
+FIR - Jeffries, Lauren
+IR - Jeffries L
+FIR - Romero, Maria Jose Ortuno
+IR - Romero MJO
+FIR - Kaufman, Odelya
+IR - Kaufman O
+FIR - Serrano, Teodoro Jerves
+IR - Serrano TJ
+FIR - Jiang, Yong-Hui
+IR - Jiang YH
+EDAT- 2026/06/04 00:36
+MHDA- 2026/06/04 00:36
+CRDT- 2026/06/03 21:53
+PHST- 2026/05/01 00:00 [revised]
+PHST- 2026/01/16 00:00 [received]
+PHST- 2026/05/19 00:00 [accepted]
+PHST- 2026/06/04 00:36 [medline]
+PHST- 2026/06/04 00:36 [pubmed]
+PHST- 2026/06/03 21:53 [entrez]
+AID - 10.1002/mds.70387 [doi]
+PST - aheadofprint
+SO - Mov Disord. 2026 Jun 3. doi: 10.1002/mds.70387.
+
PMID- 40898875
OWN - NLM
STAT- MEDLINE
@@ -2129,7 +2871,7 @@ PMID- 38145611
OWN - NLM
STAT- MEDLINE
DCOM- 20240122
-LR - 20250530
+LR - 20260624
IS - 1873-5126 (Electronic)
IS - 1353-8020 (Linking)
VI - 119
@@ -2206,6 +2948,7 @@ AD - Pos-graduacao em Medicina Interna e Ciencias da Saude, Hospital de Clinica
LA - eng
GR - MR/T001712/1/MRC_/Medical Research Council/United Kingdom
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231220
PL - England
TA - Parkinsonism Relat Disord
diff --git a/data/literature/new_loci_batch_01.txt b/data/literature/new_loci_batch_01.txt
index d0620561..dd4b366d 100644
--- a/data/literature/new_loci_batch_01.txt
+++ b/data/literature/new_loci_batch_01.txt
@@ -1,18 +1,2694 @@
+PMID- 42383049
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260701
+LR - 20260701
+IS - 2296-858X (Print)
+IS - 2296-858X (Electronic)
+IS - 2296-858X (Linking)
+VI - 13
+DP - 2026
+TI - Case Report: Similar STR profiles in non-twin siblings complicating chimerism
+ analysis after allogeneic hematopoietic stem cell transplantation.
+PG - 1863294
+LID - 10.3389/fmed.2026.1863294 [doi]
+LID - 1863294
+AB - Fanconi anemia (FA) is an inherited bone marrow (BM) failure syndrome for which
+ allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only
+ curative option. Short tandem repeat (STR) profiling is the reference molecular
+ method for post-transplant chimerism monitoring, but its analytical performance
+ depends on the presence of informative allelic differences between donor and
+ recipient. We report a 3-year-old boy with FA carrying a homozygous FANCA c.2778
+ + 1G > A variant who underwent allo-HSCT from a human leukocyte antigen
+ (HLA)-matched non-twin sibling donor. Pre-transplant STR analysis using two
+ independent multiplex systems (PowerPlex((R)) 16 and PowerPlex((R)) ESI 16 Fast)
+ revealed near-complete donor-recipient genetic concordance, with only a single
+ informative autosomal locus (D13S317) available for chimerism tracking. Despite
+ this analytical limitation, the patient achieved neutrophil engraftment on day
+ +13 and platelet engraftment with sustained trilineage recovery through day +1376
+ (approximately 3.75 years post-transplant). Serial post-transplant STR monitoring
+ demonstrated absence of the recipient-specific allele at D13S317, consistent with
+ full donor-derived hematopoiesis and corroborated by independent assay
+ replication and the clinical engraftment course. To our knowledge, this is among
+ the first reported cases of single-locus STR informativity complicating post-HSCT
+ chimerism analysis in a pediatric FA patient from a consanguineous population. In
+ populations with high consanguinity, this case demonstrates a rare but actionable
+ limitation of standard STR-based chimerism monitoring in non-twin siblings. It
+ underscores the value of pre-transplant verification of donor-recipient STR
+ informativity, predefined escalation to high-resolution alternatives such as
+ digital PCR or next-generation sequencing-based chimerism analysis when fewer
+ than two informative loci are identified, and cautious reporting language when
+ molecular informativity is constrained.
+CI - Copyright (c) 2026 Filfilan, Elsayid, Almowaled, Sannan, Alzamzami, Alamoudi,
+ Khamis and Monagel.
+FAU - Filfilan, Amro A
+AU - Filfilan AA
+AD - Clinical Laboratory Sciences Program, College of Applied Medical Sciences, King
+ Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
+AD - King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Elsayid, Mohieldin
+AU - Elsayid M
+AD - Clinical Laboratory Sciences Program, College of Applied Medical Sciences, King
+ Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
+AD - King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Almowaled, Meaad
+AU - Almowaled M
+AD - Clinical Laboratory Sciences Program, College of Applied Medical Sciences, King
+ Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
+AD - King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Sannan, Naif S
+AU - Sannan NS
+AD - Clinical Laboratory Sciences Program, College of Applied Medical Sciences, King
+ Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
+AD - King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Alzamzami, Waseem
+AU - Alzamzami W
+AD - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences,
+ University of Tabuk, Tabuk, Saudi Arabia.
+FAU - Alamoudi, Doaa
+AU - Alamoudi D
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Khamis, Modhi
+AU - Khamis M
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+FAU - Monagel, Dania A
+AU - Monagel DA
+AD - King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
+AD - Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Jeddah,
+ Saudi Arabia.
+AD - College of Medicine, King Saud Bin Abdulaziz University for Health Sciences,
+ Jeddah, Saudi Arabia.
+AD - Department of Pediatric Oncology, Ministry of National Guard-Health Affairs, King
+ Abdulaziz Medical City, Jeddah, Saudi Arabia.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260616
+PL - Switzerland
+TA - Front Med (Lausanne)
+JT - Frontiers in medicine
+JID - 101648047
+PMC - PMC13314465
+OTO - NOTNLM
+OT - allogeneic hematopoietic stem cell transplantation
+OT - case report
+OT - chimerism monitoring
+OT - consanguinity
+OT - digital PCR
+OT - fanconi anemia
+OT - next-generation sequencing
+OT - short tandem repeat profiling
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/07/01 06:34
+MHDA- 2026/07/01 06:35
+PMCR- 2026/06/16
+CRDT- 2026/07/01 05:19
+PHST- 2026/04/23 00:00 [received]
+PHST- 2026/05/17 00:00 [revised]
+PHST- 2026/05/21 00:00 [accepted]
+PHST- 2026/07/01 06:35 [medline]
+PHST- 2026/07/01 06:34 [pubmed]
+PHST- 2026/07/01 05:19 [entrez]
+PHST- 2026/06/16 00:00 [pmc-release]
+AID - 10.3389/fmed.2026.1863294 [doi]
+PST - epublish
+SO - Front Med (Lausanne). 2026 Jun 16;13:1863294. doi: 10.3389/fmed.2026.1863294.
+ eCollection 2026.
+
+PMID- 42371259
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Print)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 4
+DP - 2026 Jun 29
+TI - Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel
+ Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.
+LID - 10.1007/s12311-026-02041-y [doi]
+LID - 102
+AB - Spinocerebellar ataxia type 27B is a recently described autosomal dominant,
+ late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the
+ fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent
+ adult-onset ataxia, its full clinical spectrum remains incompletely
+ understood. To characterize the neurological, cognitive, and paraclinical
+ phenotype of patients with heterozygous FGF14 repeat expansions (>200) and expand
+ the currently known motor and non-motor features, as well as to assess the
+ co-occurrence of other repeat expansions. In this cross-sectional single-center
+ study, patients with heterozygous FGF14 repeat expansions underwent standardized
+ neurological examination and cognitive screening. Paraclinical data were reviewed
+ when available. 18 patients were included in the study (mean age at onset: 64
+ [37-79], at examination: 76 [61-94]). They all presented with gait ataxia, most
+ commonly a lateral veering gait with corrective sidesteps. In addition to the
+ core known cerebellar phenotype, we identified other movement-disorder
+ manifestations, including myokymia, myoclonus, dystonia, and parkinsonism, with
+ nigrostriatal degeneration confirmed in one patient. Cognitive impairment was
+ common, with two-thirds of patients fulfilling criteria for cerebellar
+ cognitive-affective syndrome (mean MoCA: 25 [21-29], CCAS: 86.9/120 [62-108]).
+ Worse CCAS and MoCA performance was associated with increasing ataxia severity.
+ FGF14 repeat expansions ranged from 210 to 520, and co-occurrence with
+ heterozygous expansions in RFC1 or ATXN8/ATXN8OS were identified in three
+ patients. Earlier diagnostic misclassification as transient ischemic attack was
+ reported in 33%. These findings expand the known phenotype of spinocerebellar
+ ataxia type 27B, emphasizing it as a multisystem movement disorder.
+CI - (c) 2026. The Author(s).
+FAU - Rashedi, Ronak
+AU - Rashedi R
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Peemoller, Franca
+AU - Peemoller F
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Erdmann, Hannes
+AU - Erdmann H
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Gelderblom, Mathias
+AU - Gelderblom M
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Hidding, Ute
+AU - Hidding U
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany.
+FAU - Ganos, Christos
+AU - Ganos C
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+FAU - Chen, Robert
+AU - Chen R
+AD - Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Movement
+ Disorder Clinic, University of Toronto, Toronto Western Hospital, Toronto, ON,
+ Canada.
+AD - Division of Neurology, Department of Medicine, Krembil Research Institute,
+ University of Toronto, University Health Network, Toronto, ON, Canada.
+FAU - Abicht, Angela
+AU - Abicht A
+AD - Medical Genetics Center (MGZ) Munich, Munich, 80335, Germany.
+AD - Friedrich Baur Institute, Department of Neurology, LMU University Hospital,
+ Ludwig-Maximilians-Universitat Munchen, Munich, 80336, Germany.
+FAU - Zittel, Simone
+AU - Zittel S
+AUID- ORCID: 0000-0002-3767-6376
+AD - Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr.
+ 52, Hamburg, 20246, Germany. s.zittel-dirks@uke.de.
+LA - eng
+PT - Journal Article
+DEP - 20260629
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
+RN - Spinocerebellar ataxia 27
+SB - IM
+MH - Humans
+MH - Female
+MH - Phenotype
+MH - Male
+MH - Middle Aged
+MH - Aged
+MH - Adult
+MH - Cross-Sectional Studies
+MH - *Fibroblast Growth Factors/genetics
+MH - *Cognitive Dysfunction/genetics/physiopathology
+MH - *Spinocerebellar Degenerations/genetics/physiopathology
+MH - Trinucleotide Repeat Expansion/genetics
+MH - Aged, 80 and over
+MH - *Spinocerebellar Ataxias/genetics
+MH - *Movement Disorders/genetics
+MH - DNA Repeat Expansion
+PMC - PMC13315097
+OTO - NOTNLM
+OT - Cerebellar Cognitive Affective Syndrome
+OT - Repeat Expansion Disorders
+OT - Spinocerebellar Ataxia
+COIS- Declarations. Competing interests: The authors declare no competing interests.
+ Financial Disclosures of all Authors (for the Preceding 12 Months): RR FP UH HE
+ MG CG RC AA SZ Stock Ownership in medically related fields None None None None
+ None None None None None Intellectual Property Rights None None None None None
+ None None None None Consultancies None None None None None None None None None
+ Expert Testimony None None None None None None Abbvie, Merz, Ipsen None None
+ Advisory Boards None None None None Merz, Abbvie, Biogen None None None None
+ Employment University Medical Center Hamburg Eppendorf None University Medical
+ Center Hamburg Eppendorf Medical Genetics Center Munich University Medical Center
+ Hamburg Eppendorf University Health Network, University of Toront None Medical
+ Genetics Center Munich University Medical Center Hamburg Eppendorf Partnerships
+ None None None None None None None None None Inventions None None None None None
+ None None None None Contracts University Medical Center Hamburg Eppendorf None
+ None Medical Genetics Center Munich University Medical Center Hamburg Eppendorf
+ University Health Network None Medical Genetics Center Munich University Medical
+ Center Hamburg Eppendorf Honoraria None None None None Merz, Abbvie, Biogen,
+ Nihon Kohden Xeomin for educational courses, Movement disorders society for
+ educational courses None None Biogen Royalties None None None None None None None
+ None None Patents None None None None None None None None None Grants None None
+ None None DFG None Canadian Institute of Health Research, Parkinson Foundation,
+ National Organization of Rare Diseases, Natural Science and Engineering Research
+ Council of Canada, Abbvie None UKE Foundation Other None None None None None None
+ None None None
+EDAT- 2026/06/29 12:33
+MHDA- 2026/06/29 12:34
+PMCR- 2026/06/29
+CRDT- 2026/06/29 11:25
+PHST- 2026/04/23 00:00 [received]
+PHST- 2026/06/19 00:00 [accepted]
+PHST- 2026/06/29 12:34 [medline]
+PHST- 2026/06/29 12:33 [pubmed]
+PHST- 2026/06/29 11:25 [entrez]
+PHST- 2026/06/29 00:00 [pmc-release]
+AID - 10.1007/s12311-026-02041-y [pii]
+AID - 2041 [pii]
+AID - 10.1007/s12311-026-02041-y [doi]
+PST - epublish
+SO - Cerebellum. 2026 Jun 29;25(4):102. doi: 10.1007/s12311-026-02041-y.
+
+PMID- 42367873
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260629
+LR - 20260629
+IS - 2692-8205 (Electronic)
+IS - 2692-8205 (Linking)
+DP - 2026 Jun 15
+TI - Tandem repeat variation within and between species reveals signatures of
+ selection in humans and chimpanzees.
+LID - 2026.01.20.700717 [pii]
+LID - 10.64898/2026.01.20.700717 [doi]
+AB - Tandem repeats (TRs) are highly mutable DNA elements that influence gene
+ regulation (1) , protein structure (2) , and disease (3) . Until recently, their
+ repetitive nature has hindered accurate TR sequencing and genotyping, resulting
+ in sparse comparative data across species. In addition, we lack population-aware
+ approaches to analyze TR conservation, divergence, and mutational dynamics. Here,
+ leveraging telomere-to-telomere primate genomes and long-read data from 46 humans
+ and 23 chimpanzees, we constructed a catalog of homologous TR loci, and developed
+ an analytical framework to jointly analyze TR variation within- and
+ between-species. Across primates, TR diversity and conservation vary strongly
+ with genomic context, with coding and 5' UTR TRs exhibiting reduced polymorphism
+ and constraint across species, consistent with stabilizing selection. Yet, while
+ TRs are depleted in coding sequence, they are enriched in 5' UTRs, suggesting
+ functional roles that outweighs mutational risks. TR heterozygosity varies across
+ motif lengths and is concordant with both evolutionary and trio-based mutation
+ rate estimates (4) . Introducing an HKA-like approach to control for
+ locus-specific mutation rates, we identified TRs with signatures of directional
+ and balancing selection. These candidates are significantly enriched in genes
+ involved in nervous system development and synaptic function, highlighting TRs as
+ potential contributors to neural evolution. Further, TR divergence correlates
+ with gene expression divergence, particularly for promoter-related TRs and
+ expression in organoids related to neurodevelopment, implicating a subset of
+ regulatory TRs as candidates for adaptive expression evolution. Finally,
+ trait-associated TRs display longer alleles and higher diversity in humans
+ compared to chimpanzees, consistent with lineage-specific runaway mutations
+ and/or directional selection (5) . Together, our results establish a comparative
+ framework for TR evolutionary analyses, revealing how mutational processes and
+ selection jointly shape repeat variation, and supporting their role as both
+ conserved functional elements and as drivers of evolutionary innovation.
+FAU - Adam, Carolina L
+AU - Adam CL
+AUID- ORCID: 0000-0003-1558-4152
+FAU - Rocha, Joana L
+AU - Rocha JL
+AUID- ORCID: 0000-0003-3266-6328
+FAU - Sudmant, Peter H
+AU - Sudmant PH
+AUID- ORCID: 0000-0002-9573-8248
+FAU - Rohlfs, Rori V
+AU - Rohlfs RV
+AUID- ORCID: 0000-0002-2625-192X
+LA - eng
+PT - Journal Article
+PT - Preprint
+DEP - 20260615
+PL - United States
+TA - bioRxiv
+JT - bioRxiv : the preprint server for biology
+JID - 101680187
+PMC - PMC13308034
+EDAT- 2026/06/29 12:33
+MHDA- 2026/06/29 12:34
+PMCR- 2026/06/26
+CRDT- 2026/06/29 06:41
+PHST- 2026/06/29 12:34 [medline]
+PHST- 2026/06/29 12:33 [pubmed]
+PHST- 2026/06/29 06:41 [entrez]
+PHST- 2026/06/26 00:00 [pmc-release]
+AID - 2026.01.20.700717 [pii]
+AID - 10.64898/2026.01.20.700717 [doi]
+PST - epublish
+SO - bioRxiv [Preprint]. 2026 Jun 15:2026.01.20.700717. doi:
+ 10.64898/2026.01.20.700717.
+
+PMID- 42344868
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260625
+LR - 20260625
+IS - 2157-6998 (Print)
+IS - 2157-7005 (Electronic)
+IS - 2157-7005 (Linking)
+VI - 16
+IP - 2
+DP - 2026 Apr
+TI - Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome:
+ Improved Outcome through Early Multidisciplinary Intervention.
+PG - e105-e108
+LID - 10.1055/a-2873-6868 [doi]
+AB - Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic
+ disorder that causes alveolar hypoventilation because of impaired chemoreceptor
+ response to hypercapnia and hypoxia occurring due to a dysfunctional central
+ autonomic drive. CCHS is a result of pathogenic variants of the PHOX2B gene,
+ which affects neural crest cell development. Consequently, CCHS can be
+ accompanied by dysregulation of the autonomic system, Hirschsprung's disease and
+ other gastrointestinal disorders, cardiac arrhythmias, and neural cell-derived
+ tumors. Disease severity correlates with mutation type and determines ventilatory
+ requirements, with management centered on lifelong respiratory support and
+ multidisciplinary monitoring for associated comorbidities. Case Presentation:
+ This case describes a term infant delivered via emergency cesarean section for
+ maternal hypotension and fetal bradycardia who presented with apnea and required
+ intubation due to failure to respond to positive pressure ventilation. The infant
+ experienced recurrent apnea, hypercarbia, and ventilator dependence due to
+ multiple failed extubation attempts, with an unrevealing evaluation for
+ pulmonary, cardiac, neurologic, metabolic, and infectious causes. Genetic testing
+ identified a PHOX2B polyalanine repeat expansion consistent with CCHS. This case
+ demonstrates a stepwise multidisciplinary approach with concurrent genetic
+ evaluation that enabled early diagnosis, timely management, and improved outcome.
+CI - The Author(s). This is an open access article published by Thieme under the terms
+ of the Creative Commons Attribution License, permitting unrestricted use,
+ distribution, and reproduction so long as the original work is properly cited.
+ (https://creativecommons.org/licenses/by/4.0/).
+FAU - Shalamov, Michal M
+AU - Shalamov MM
+AUID- ORCID: 0009-0009-6807-4333
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+FAU - Cromwell, Linsey R
+AU - Cromwell LR
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+FAU - Guha, Pallabi
+AU - Guha P
+AD - Department of Pediatrics/NeonatologyHMH K. Hovnanian Children's Hospital at
+ Jersey Shore University Medical CenterNeptune CityNew JerseyUnited States.
+ RINGGOLD: 23498
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260602
+PL - United States
+TA - AJP Rep
+JT - AJP reports
+JID - 101569862
+PMC - PMC13288275
+OTO - NOTNLM
+OT - PHOX2B
+OT - apnea
+OT - autonomic dysfunction
+OT - congenital central hypoventilation syndrome
+OT - hypercapnia
+OT - hypoxemia
+COIS- Conflict of Interest The authors declare that they have no conflict of interest.
+EDAT- 2026/06/25 06:36
+MHDA- 2026/06/25 06:37
+PMCR- 2026/06/01
+CRDT- 2026/06/25 04:44
+PHST- 2026/03/16 00:00 [received]
+PHST- 2026/05/09 00:00 [accepted]
+PHST- 2026/06/25 06:37 [medline]
+PHST- 2026/06/25 06:36 [pubmed]
+PHST- 2026/06/25 04:44 [entrez]
+PHST- 2026/06/01 00:00 [pmc-release]
+AID - AJPR-26-Mar-0018 [pii]
+AID - 10.1055/a-2873-6868 [doi]
+PST - epublish
+SO - AJP Rep. 2026 Jun 2;16(2):e105-e108. doi: 10.1055/a-2873-6868. eCollection 2026
+ Apr.
+
+PMID- 42337487
+OWN - NLM
+STAT- Publisher
+LR - 20260624
+IS - 1471-2377 (Electronic)
+IS - 1471-2377 (Linking)
+DP - 2026 Jun 23
+TI - Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort
+ of spinocerebellar ataxia type 3.
+LID - 10.1186/s12883-026-05101-2 [doi]
+AB - BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is caused by CAG repeat
+ expansion in ATXN3, which inversely correlates with age at onset but does not
+ fully account for interindividual variability. A recent study in a mixed
+ European/South and North American cohort suggested that the PRKN V380L variant
+ (rs1801582), particularly in C/C homozygotes, was associated with earlier disease
+ onset. We therefore performed a replication analysis to evaluate the frequency
+ and potential clinical relevance of rs1801582 in a Japanese SCA3 cohort. METHODS:
+ rs1801582 genotypes were determined by Sanger sequencing in 228 genetically
+ confirmed SCA3 patients and 260 SCA6 patients as convenience disease controls.
+ Genotype frequencies were additionally compared with East Asian reference
+ populations from the 1000 Genomes Project Phase 3 dataset. Associations with age
+ at onset were evaluated using multivariable linear regression adjusted for
+ expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length, and sex.
+ RESULTS: Genotype frequencies in SCA3 (G/G: 86.0%, G/C: 13.2%, C/C: 0.9%) were
+ similar to those in controls (G/G: 85.8%, G/C: 13.5%, C/C: 0.8%) and closely
+ resembled those reported in East Asian reference populations. Because of the
+ extremely small number of C/C carriers (n = 2), subsequent analyses focused on
+ G/G and G/C carriers. In SCA3, median age at onset was comparable between
+ genotypes (42 vs. 41 years), and median expanded ATXN3 CAG repeat lengths did not
+ differ between groups (71 vs. 71 repeats). Multivariable regression analysis
+ adjusting for expanded ATXN3 CAG repeat length, normal ATXN3 CAG repeat length,
+ and sex demonstrated that rs1801582 was not independently associated with age at
+ onset (beta = - 0.42 years, p = 0.84), whereas expanded CAG repeat length remained a
+ strong predictor (beta = - 1.68 years per repeat, p < 0.0001). CONCLUSIONS: The
+ rs1801582 C/C genotype is extremely rare in Japan; therefore, the present cohort
+ had limited statistical power to directly evaluate the previously proposed
+ recessive modifier effect. No detectable association between rs1801582 genotype
+ and age at onset was identified among G/G and G/C carriers in this Japanese
+ cohort. These findings highlight the importance of population-specific validation
+ and adequately powered replication studies when evaluating candidate genetic
+ modifiers in SCA3.
+CI - (c) 2026. The Author(s).
+FAU - Nadbitova, Ekaterina
+AU - Nadbitova E
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Takei, Nobuyuki
+AU - Takei N
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Hirokawa, Sachiko
+AU - Hirokawa S
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Hatano, Yuya
+AU - Hatano Y
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Ishihara, Tomohiko
+AU - Ishihara T
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+FAU - Onodera, Osamu
+AU - Onodera O
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan.
+AD - Department of Molecular Neuroscience, Brain Research Institute, Niigata
+ University, Niigata, 951-8585, Japan.
+FAU - Koike, Yuka Mitsuhashi
+AU - Koike YM
+AD - Department of Neurology, Brain Research Institute, Niigata University, 1-757
+ Asahimachi-dori, Niigata, 951-8585, Japan. yukkoike@bri.niigata-u.ac.jp.
+LA - eng
+PT - Journal Article
+DEP - 20260623
+PL - England
+TA - BMC Neurol
+JT - BMC neurology
+JID - 100968555
+SB - IM
+OTO - NOTNLM
+OT - Age at onset
+OT - Japanese population
+OT - Machado-Joseph disease (MJD)
+OT - Single nucleotide polymorphism
+COIS- Declarations. Ethics approval and consent to participate: The study was approved
+ by the institutional review board of Niigata University (approval number:
+ G2021-0010, approved on September 29, 2021) and was conducted in accordance with
+ the Declaration of Helsinki. The requirement for additional informed consent was
+ waived due to the retrospective design. Consent for publication: Not applicable.
+ Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/24 06:39
+MHDA- 2026/06/24 06:39
+CRDT- 2026/06/24 00:06
+PHST- 2026/03/07 00:00 [received]
+PHST- 2026/06/18 00:00 [accepted]
+PHST- 2026/06/24 06:39 [medline]
+PHST- 2026/06/24 06:39 [pubmed]
+PHST- 2026/06/24 00:06 [entrez]
+AID - 10.1186/s12883-026-05101-2 [pii]
+AID - 10.1186/s12883-026-05101-2 [doi]
+PST - aheadofprint
+SO - BMC Neurol. 2026 Jun 23. doi: 10.1186/s12883-026-05101-2.
+
+PMID- 42308683
+OWN - NLM
+STAT- Publisher
+LR - 20260617
+IS - 1532-2130 (Electronic)
+IS - 1090-3798 (Linking)
+VI - 62
+DP - 2026 Jun 16
+TI - The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort:
+ Clinical spectrum, molecular diagnostics, and therapeutic implications.
+PG - 51-60
+LID - S1090-3798(26)00053-X [pii]
+LID - 10.1016/j.ejpn.2026.06.003 [doi]
+AB - BACKGROUND: Childhood-onset dystonia (COD) encompasses a clinically and
+ etiologically heterogeneous group of disorders, often with overlapping features.
+ Genetic testing plays a pivotal role in uncovering underlying causes, identifying
+ treatable subtypes, and informing individualized management strategies.
+ OBJECTIVE: To delineate the molecular genetic etiology, phenotypic
+ characteristics, and treatment strategies in a multicenter cohort with
+ gene-related CODs. METHODS: The study cohort comprised 81 patients with
+ gene-related COD from 19 tertiary pediatric neurology centers in Turkiye.
+ Clinical phenomenology, biochemical, electrophysiological, neuroimaging findings,
+ diagnostic genetic tests, causative genes and variants, inheritance patterns,
+ gene-related phenotypes, treatment modalities, and their efficacy were gathered.
+ RESULTS: A diverse genetic landscape was identified in the cohort of 81 patients,
+ revealing 62 distinct (pathogenic/likely pathogenic) variants across 26 genes.
+ The genetic diagnoses were established through whole-exome sequencing (49.4%),
+ single-gene testing (25.9%), and targeted gene panels (23.5%). Of the 81
+ patients, 59 had single-nucleotide variants (SNVs), 21 had deletions or
+ duplications, and one patient carried a pathogenic trinucleotide repeat
+ expansion. The common etiologies of gene-related COD were KMT2B (16%), GCH1
+ (11.1%), SLC2A1 (11.1%), GNAO1 (8.6%), TOR1A (8.6%), GNAL (6.2%). Rare etiologies
+ were SLC18A2 and TH (each 4.9%), ATP1A3, NKX2-1, PRKN, SCN4A, THAP1 (each 2.5%),
+ and ultra-rare etiologies (single patients) were: ACY5, ADPRS, ANO3, COL6A3,
+ DNM1L, GNB1, HTT, PRKRA, PRRT2, RHOBTB2, SETX, SLC6A3, TUBB4A (1.2%). Based on
+ Gene Ontology classification, the most represented functional categories were
+ neurotransmission (n = 18, 22.2%), gene expression (n = 17, 20.9%), and signaling
+ (n = 14, 17.3%). Genetic diagnosis influenced treatment modalities with
+ pharmacotherapy modification or implementation of deep brain stimulation in 60.5%
+ of the cohort, with targeted therapies being more effective than symptomatic
+ treatments (p = 0.0118). CONCLUSION: This nationwide study highlights the
+ phenotypic and genetic diversity of gene-related COD with certain therapeutic
+ implications based on the molecular etiology-specific diagnosis.
+CI - Copyright (c) 2026. Published by Elsevier Ltd.
+FAU - Yilmaz, Sanem
+AU - Yilmaz S
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Serdaroglu, Esra
+AU - Serdaroglu E
+AD - Gazi University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Ankara, Turkiye.
+FAU - Simsek, Erdem
+AU - Simsek E
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye. Electronic address: simsek.erdem@yahoo.com.
+FAU - Kara, Bulent
+AU - Kara B
+AD - Kocaeli University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kocaeli, Turkiye.
+FAU - Turkdogan, Dilsad
+AU - Turkdogan D
+AD - Marmara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology and Private Practice, Istanbul, Turkiye.
+FAU - Yis, Uluc
+AU - Yis U
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Erol, Ilknur
+AU - Erol I
+AD - Adana Baskent University Hospital, Department of Pediatrics, Division of Child
+ Neurology, Adana, Turkiye.
+FAU - Yuksel, Deniz
+AU - Yuksel D
+AD - Etlik City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Kanmaz, Seda
+AU - Kanmaz S
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Eroglu, Arzu
+AU - Eroglu A
+AD - Ataturk City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Balikesir, Turkiye.
+FAU - Canpolat, Mehmet
+AU - Canpolat M
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Komur, Mustafa
+AU - Komur M
+AD - Mersin University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Mersin, Turkiye.
+FAU - Citak Kurt, Nese
+AU - Citak Kurt N
+AD - Ankara City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Sakarya Gunes, Ayfer
+AU - Sakarya Gunes A
+AD - Kocaeli University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kocaeli, Turkiye.
+FAU - Soydemir, Didem
+AU - Soydemir D
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Besen, Seyda
+AU - Besen S
+AD - Adana Baskent University Hospital, Department of Pediatrics, Division of Child
+ Neurology, Adana, Turkiye.
+FAU - Bektas, Omer
+AU - Bektas O
+AD - Ankara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Kirik, Serkan
+AU - Kirik S
+AD - Firat University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Elazig, Turkiye.
+FAU - Atalay Celik, Hale
+AU - Atalay Celik H
+AD - Etlik City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Ardicli, Didem
+AU - Ardicli D
+AD - Ankara City Hospital, Department of Pediatrics, Division of Child Neurology,
+ Ankara, Turkiye.
+FAU - Aksoy, Ayse
+AU - Aksoy A
+AD - Ondokuz Mayis University Faculty of Medicine, Department of Pediatrics, Division
+ of Child Neurology, Samsun, Turkiye.
+FAU - Yarar, Coskun
+AU - Yarar C
+AD - Eskisehir Osmangazi University, Faculty of Medicine, Department of Pediatrics,
+ Division of Child Neurology, Eskisehir, Turkiye.
+FAU - Cerci Kubur, Cisil
+AU - Cerci Kubur C
+AD - Celal Bayar University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Manisa, Turkiye.
+FAU - Olgac Dundar, Nihal
+AU - Olgac Dundar N
+AD - Katip Celebi University Faculty of Medicine, Department of Pediatrics, Division
+ of Child Neurology, Izmir, Turkiye.
+FAU - Gungor, Olcay
+AU - Gungor O
+AD - Pamukkale University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Denizli, Turkiye.
+FAU - Kamasak, Tulay
+AU - Kamasak T
+AD - Karadeniz University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Trabzon, Turkiye.
+FAU - Olculu, Cemile Busra
+AU - Olculu CB
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+FAU - Gumus, Hakan
+AU - Gumus H
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Yildirim, Mirac
+AU - Yildirim M
+AD - Ankara University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Isik, Esra
+AU - Isik E
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Atik, Tahir
+AU - Atik T
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Cogulu, Ozgur
+AU - Cogulu O
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of
+ Pediatric Genetics, Izmir, Turkiye.
+FAU - Basak, Ayse Nazli
+AU - Basak AN
+AD - Suna and Inan Kirac Foundation, Neurodegeneration Research Laboratory (NDAL),
+ Research Center for Translational Medicine (KUTTAM), School of Medicine, Koc
+ University, Istanbul, Turkiye.
+FAU - Sunnetci Akkoyunlu, Deniz
+AU - Sunnetci Akkoyunlu D
+AD - Kocaeli University Faculty of Medicine, Department of Medical Genetics, Kocaeli,
+ Turkiye.
+FAU - Ozbakir, Derya Hazal
+AU - Ozbakir DH
+AD - Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical
+ Genetics, Eskisehir, Turkiye.
+FAU - Kayhan, Gulsum
+AU - Kayhan G
+AD - Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara,
+ Turkiye.
+FAU - Gerik Celebi, Hamide Betul
+AU - Gerik Celebi HB
+AD - Ataturk City Hospital, Department of Medical Genetics, Balikesir, Turkiye.
+FAU - Karaer, Kadri
+AU - Karaer K
+AD - Pamukkale University Faculty of Medicine, Department of Medical Genetics,
+ Denizli, Turkiye.
+FAU - Dundar, Munis
+AU - Dundar M
+AD - Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri,
+ Turkiye.
+FAU - Kaiyrzhanov, Rauan
+AU - Kaiyrzhanov R
+AD - University College London, Department of Neuromuscular Diseases, London, England,
+ UK.
+FAU - Ceylaner, Serdar
+AU - Ceylaner S
+AD - Intergen Genetics and Rare Diseases Diagnosis Research & Application Center,
+ Ankara, Turkiye.
+FAU - Per, Huseyin
+AU - Per H
+AD - Erciyes University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Kayseri, Turkiye.
+FAU - Hiz, Ayse Semra
+AU - Hiz AS
+AD - Dokuz Eylul University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Izmir, Turkiye.
+FAU - Cansu, Ali
+AU - Cansu A
+AD - Karadeniz University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Trabzon, Turkiye.
+FAU - Okuyaz, Cetin
+AU - Okuyaz C
+AD - Mersin University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Mersin, Turkiye.
+FAU - Anlar, Banu
+AU - Anlar B
+AD - Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of
+ Child Neurology, Ankara, Turkiye.
+FAU - Tekgul, Hasan
+AU - Tekgul H
+AD - Ege University Faculty of Medicine, Department of Pediatrics, Division of Child
+ Neurology, Izmir, Turkiye.
+LA - eng
+PT - Journal Article
+DEP - 20260616
+PL - England
+TA - Eur J Paediatr Neurol
+JT - European journal of paediatric neurology : EJPN : official journal of the
+ European Paediatric Neurology Society
+JID - 9715169
+SB - IM
+OTO - NOTNLM
+OT - Childhood
+OT - Dystonia
+OT - Genetic
+OT - Hyperkinetic
+OT - Movement disorder
+COIS- Declaration of interests The authors declare that they have no known competing
+ financial interests or personal relationships that could have appeared to
+ influence the work reported in this paper.
+EDAT- 2026/06/18 00:32
+MHDA- 2026/06/18 00:32
+CRDT- 2026/06/17 18:04
+PHST- 2025/06/30 00:00 [received]
+PHST- 2026/03/05 00:00 [revised]
+PHST- 2026/06/16 00:00 [accepted]
+PHST- 2026/06/18 00:32 [medline]
+PHST- 2026/06/18 00:32 [pubmed]
+PHST- 2026/06/17 18:04 [entrez]
+AID - S1090-3798(26)00053-X [pii]
+AID - 10.1016/j.ejpn.2026.06.003 [doi]
+PST - aheadofprint
+SO - Eur J Paediatr Neurol. 2026 Jun 16;62:51-60. doi: 10.1016/j.ejpn.2026.06.003.
+
+PMID- 42293335
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260615
+LR - 20260615
+IS - 1098-1004 (Electronic)
+IS - 1059-7794 (Print)
+IS - 1059-7794 (Linking)
+VI - 2026
+DP - 2026
+TI - Structural Variant and Repeat Expansion Findings Identified by Optical Genome
+ Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental
+ Disorders.
+PG - 3130383
+LID - 10.1155/humu/3130383 [doi]
+LID - 3130383
+AB - Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by
+ persistent deficits in social communication and interaction, along with
+ restricted, repetitive patterns of behavior, interests, or activities.
+ Single-nucleotide variants (SNVs) and structural variants (SVs), including
+ copy-number variants (CNVs), have been reported as important contributors to the
+ genetic basis of ASD. In this study, we evaluated the diagnostic contribution of
+ optical genome mapping (OGM) as a complementary cytogenomic approach in a
+ selected ASD cohort enriched for complex ASD with developmental
+ delay/intellectual disability (DD/ID) and/or additional neurodevelopmental or
+ syndromic features. We retrospectively evaluated 34 individuals with ASD who
+ underwent OGM analysis, most of whom had concomitant DD/ID and/or additional
+ neurological, congenital, or syndromic features. Confirmed pathogenic (P) or
+ likely pathogenic (LP) findings were identified in 7/34 individuals (20.6%), and
+ one additional unconfirmed OGM-only duplication was provisionally interpreted as
+ pathogenic. Overall, confirmed or provisional P/LP findings were observed in 8/34
+ individuals (23.5%), all of whom had complex ASD with DD/ID and/or additional
+ neurodevelopmental or syndromic features. OGM-detected findings were confirmed by
+ orthogonal methods whenever clinically and technically feasible, and segregation
+ analyses were performed when samples were available. These results suggest that
+ OGM may add value to integrated genetic testing workflows for selected
+ individuals with complex ASD, particularly when SVs, complex chromosomal
+ rearrangements, or FMR1 full-mutation repeat expansions are clinically suspected
+ or insufficiently resolved by conventional approaches.
+CI - Copyright (c) 2026 Mehmet Burak Mutlu et al. Human Mutation published by John Wiley
+ & Sons Ltd.
+FAU - Mutlu, Mehmet Burak
+AU - Mutlu MB
+AUID- ORCID: 0000-0001-7745-8165
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Ogutlu, Ozge Beyza Gundogdu
+AU - Ogutlu OBG
+AUID- ORCID: 0000-0002-8117-6408
+AD - Department of Medical Genetics, Erzurum Regional Training and Research Hospital,
+ Erzurum, Turkiye, erzurumbeah.gov.tr.
+FAU - Oz, Ozlem
+AU - Oz O
+AUID- ORCID: 0000-0002-5533-6025
+AD - Department of Medical Genetics, Harran University Faculty of Medicine, Sanliurfa,
+ Turkiye, harran.edu.tr.
+FAU - Duymus, Fahrettin
+AU - Duymus F
+AUID- ORCID: 0000-0002-8130-9792
+AD - Department of Medical Genetics, Usak University, Faculty of Medicine, Usak,
+ Turkiye, usak.edu.tr.
+FAU - Seyhan, Serhat
+AU - Seyhan S
+AUID- ORCID: 0000-0002-7785-2995
+AD - Medroyal Genetic Diseases Assessment Center, Istanbul, Turkiye.
+FAU - Tokac, Ayse Gul Bayrak
+AU - Tokac AGB
+AUID- ORCID: 0000-0003-2228-0632
+AD - Department of Internal Medicine, Division of Medical Genetics, Istanbul
+ University, Faculty of Medicine, Istanbul, Turkiye, istanbul.edu.tr.
+FAU - Tezcan, Esad
+AU - Tezcan E
+AUID- ORCID: 0000-0001-8362-1934
+AD - Department of Child and Adolescent Psychiatry, Selcuk University, Faculty of
+ Medicine, Konya, Turkiye, selcuk.edu.tr.
+FAU - Ogutlu, Hakan
+AU - Ogutlu H
+AUID- ORCID: 0000-0002-1325-446X
+AD - Department of Child and Adolescent Psychiatry, University College Dublin, Dublin,
+ Ireland, ucd.ie.
+FAU - Demiryilmaz, Fatma
+AU - Demiryilmaz F
+AUID- ORCID: 0009-0007-5981-434X
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Silahtarlioglu, Nurcan
+AU - Silahtarlioglu N
+AUID- ORCID: 0009-0001-7725-4872
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Bilgil, Kader
+AU - Bilgil K
+AUID- ORCID: 0009-0002-4940-3962
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Elma, Sumeyye
+AU - Elma S
+AUID- ORCID: 0009-0000-4739-0550
+AD - Detagen Genetic Diseases Evaluation Center, Kayseri, Turkiye.
+FAU - Erdogan, Murat
+AU - Erdogan M
+AUID- ORCID: 0000-0001-8768-4457
+AD - Department of Medical Genetics, University of Health Science, Kayseri Faculty of
+ Medicine, Kayseri, Turkiye, sbu.edu.tr.
+FAU - Gumus, Hakan
+AU - Gumus H
+AUID- ORCID: 0000-0001-5896-074X
+AD - Department of Pediatrics, Division of Pediatric Neurology, Erciyes University,
+ Faculty of Medicine, Kayseri, Turkiye, erciyes.edu.tr.
+FAU - Kumandas, Sefer
+AU - Kumandas S
+AUID- ORCID: 0000-0003-0117-1218
+AD - Department of Pediatrics, Division of Pediatric Neurology, Erciyes University,
+ Faculty of Medicine, Kayseri, Turkiye, erciyes.edu.tr.
+FAU - Kilicaslan, Fethiye
+AU - Kilicaslan F
+AUID- ORCID: 0000-0002-8131-8859
+AD - Department of Child and Adolescent Psychiatry, Harran University, Faculty of
+ Medicine, Sanliurfa, Turkiye, harran.edu.tr.
+LA - eng
+PT - Journal Article
+DEP - 20260611
+PL - United States
+TA - Hum Mutat
+JT - Human mutation
+JID - 9215429
+SB - IM
+MH - Humans
+MH - *Autism Spectrum Disorder/genetics/diagnosis
+MH - DNA Copy Number Variations
+MH - Female
+MH - *Neurodevelopmental Disorders/genetics
+MH - Child
+MH - Male
+MH - *Chromosome Mapping/methods
+MH - Child, Preschool
+MH - Polymorphism, Single Nucleotide
+MH - *Genomic Structural Variation
+MH - Adolescent
+MH - Genetic Predisposition to Disease
+PMC - PMC13255017
+OTO - NOTNLM
+OT - autism spectrum disorder
+OT - copy-number variants
+OT - cytogenomics
+OT - neurodevelopmental disorders
+OT - optical genome mapping
+OT - repeat expansion
+OT - structural variants
+COIS- Mehmet Burak Mutlu, Fatma Demiryilmaz, Nurcan Silahtarlioglu, Kader Bilgil, and
+ Sumeyye Elma are employed by a genetic diseases evaluation company that
+ distributes OGM technology in Turkiye. The other authors declare no conflicts of
+ interest.
+EDAT- 2026/06/15 12:53
+MHDA- 2026/06/15 12:54
+PMCR- 2026/06/11
+CRDT- 2026/06/15 07:37
+PHST- 2025/06/04 00:00 [received]
+PHST- 2026/05/19 00:00 [revised]
+PHST- 2026/05/26 00:00 [accepted]
+PHST- 2026/06/15 12:54 [medline]
+PHST- 2026/06/15 12:53 [pubmed]
+PHST- 2026/06/15 07:37 [entrez]
+PHST- 2026/06/11 00:00 [pmc-release]
+AID - HUMU3130383 [pii]
+AID - 10.1155/humu/3130383 [doi]
+PST - epublish
+SO - Hum Mutat. 2026 Jun 11;2026:3130383. doi: 10.1155/humu/3130383. eCollection 2026.
+
+PMID- 42288560
+OWN - NLM
+STAT- Publisher
+LR - 20260613
+IS - 2045-2322 (Electronic)
+IS - 2045-2322 (Linking)
+DP - 2026 Jun 13
+TI - Genetic profiling enhances cystic fibrosis prenatal diagnosis.
+LID - 10.1038/s41598-026-39400-y [doi]
+AB - Prenatal testing is a standard approach for detecting genetic diseases in
+ expectant mothers, with more testing options becoming available. Homozygosity
+ mapping is invaluable for identifying genes causing disease and improving
+ molecular diagnostics. Here, we present the prenatal diagnosis outcomes of three
+ families affected by cystic fibrosis (CF). A combination of phenotypic analysis,
+ haplotype analysis, and CFTR gene sequencing was used to identify the causative
+ mutations. This allowed for the effective detection of individuals misdiagnosed
+ with routine screening procedures. A method that is potentially useful for
+ similar autosomal recessive disorders. Our findings indicate that enhanced
+ diagnostic accuracy enables earlier clinical interventions that lead to better
+ management of affected pregnancies and improved neonatal care. We show the
+ significance of comprehensive genetic testing to boost diagnostic accuracy for
+ recessive diseases and minimize the risk of diagnostic errors in prenatal
+ settings.
+CI - (c) 2026. The Author(s).
+FAU - Hosseini Nami, Amin
+AU - Hosseini Nami A
+AD - Department of Biotechnology, College of Science, University of Tehran, Tehran,
+ Iran.
+AD - Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center
+ (KHGRC), Tehran, Iran.
+FAU - Kabiri, Mahboubeh
+AU - Kabiri M
+AD - Department of Biotechnology, College of Science, University of Tehran, Tehran,
+ Iran.
+FAU - Zafarghandi Motlagh, Fatemeh
+AU - Zafarghandi Motlagh F
+AD - Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center
+ (KHGRC), Tehran, Iran.
+FAU - Zeinali, Razie
+AU - Zeinali R
+AD - Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center
+ (KHGRC), Tehran, Iran.
+AD - Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran,
+ Iran.
+FAU - Karimi, Ali
+AU - Karimi A
+AD - Max Planck Institute for Brain Research, Frankfurt am Main, Germany.
+FAU - Aslani, Saba
+AU - Aslani S
+AD - Temerty Faculty of Medicine, University of Toronto, Toronto, Canada.
+FAU - Zeinali, Sirous
+AU - Zeinali S
+AD - Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center
+ (KHGRC), Tehran, Iran. zeinali@gmail.com.
+LA - eng
+PT - Journal Article
+DEP - 20260613
+PL - England
+TA - Sci Rep
+JT - Scientific reports
+JID - 101563288
+SB - IM
+OTO - NOTNLM
+OT - Autosomal recessive disorder
+OT - Cystic fibrosis
+OT - Pediatric respiratory genetics
+OT - Prenatal diagnosis
+OT - Respiratory diseases
+OT - Short tandem repeat profiling
+COIS- Declarations. Competing interests: The authors have no conflicts of interest to
+ declare. Prof. Sirous Zeinali is a Kawsar Human Genetics Research Center board
+ member in Tehran, Iran. He is also the founder and CEO of Genetek Biopharma GmbH
+ in Germany. Even though we have used Genetek Biopharma products in this study,
+ the manuscript does not advertise the kits or imply their superiority in any way.
+ All other authors declare that they have no conflict of interest.
+EDAT- 2026/06/15 11:32
+MHDA- 2026/06/15 11:32
+CRDT- 2026/06/13 23:16
+PHST- 2025/04/06 00:00 [received]
+PHST- 2026/02/04 00:00 [accepted]
+PHST- 2026/06/15 11:32 [medline]
+PHST- 2026/06/15 11:32 [pubmed]
+PHST- 2026/06/13 23:16 [entrez]
+AID - 10.1038/s41598-026-39400-y [pii]
+AID - 10.1038/s41598-026-39400-y [doi]
+PST - aheadofprint
+SO - Sci Rep. 2026 Jun 13. doi: 10.1038/s41598-026-39400-y.
+
+PMID- 42260493
+OWN - NLM
+STAT- Publisher
+LR - 20260609
+IS - 1755-8794 (Electronic)
+IS - 1755-8794 (Linking)
+DP - 2026 Jun 8
+TI - A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical
+ characterization and haplotype analysis of TANGO2 deficiency disorder.
+LID - 10.1186/s12920-026-02407-5 [doi]
+AB - BACKGROUND: TANGO2 deficiency disorder (TDD) is a rare autosomal recessive
+ condition characterized by recurrent metabolic crises, rhabdomyolysis,
+ encephalopathy, seizures, intellectual disability, and life-threatening cardiac
+ arrhythmias. METHODS: Here, we describe 16 affected individuals from 10
+ consanguineous Palestinian families harboring a shared homozygous missense
+ variant in TANGO2 (NM_152906.7:c.443T > G; NP_690870.3:p.(Leu148Trp)). Exome
+ sequencing identified the variant in three probands and targeted Sanger
+ sequencing confirmed segregation in all remaining families. The variant is absent
+ from population databases and is predicted to be deleterious by multiple in
+ silico tools. Microsatellite marker analysis was performed using five short
+ tandem repeat (STR) markers spanning the TANGO2 locus. RESULTS: Clinical
+ presentation was heterogeneous, including developmental delay, recurrent
+ encephalopathy, rhabdomyolysis, seizures, and cardiac involvement. Microsatellite
+ marker analysis revealed a conserved ancestral haplotype flanking the TANGO2
+ locus in all genotyped affected individuals, supporting a founder effect in this
+ population. Supportive management including coenzyme Q10 and B-complex vitamins
+ (B-100) was commonly used; consistent with prior reports, some families described
+ reduced frequency and/or severity of spells following supplementation.
+ CONCLUSIONS: These findings provide strong clinical, genetic, and haplotype
+ evidence supporting reclassification of the TANGO2 p.(Leu148Trp) variant as
+ likely pathogenic and highlight the importance of early molecular diagnosis and
+ targeted screening strategies in high-consanguinity populations.
+CI - (c) 2026. The Author(s).
+FAU - Canavati, Christina
+AU - Canavati C
+AD - Department of Life Sciences, Hereditary Research Laboratory, Bethlehem
+ University, Bethlehem, 72372, Palestine.
+FAU - Ashhab, Motee
+AU - Ashhab M
+AD - Department of Pediatrics, Al Makassed Hospital, Jerusalem, Palestine.
+AD - Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
+FAU - Rabie, Grace
+AU - Rabie G
+AD - Department of Life Sciences, Hereditary Research Laboratory, Bethlehem
+ University, Bethlehem, 72372, Palestine.
+FAU - Hreimat, Lina
+AU - Hreimat L
+AD - Istishari Arab Hospital, Molecular Genetics Lab, Ramallah, Palestine.
+FAU - Shatrit, Hanin
+AU - Shatrit H
+AD - Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
+FAU - Kamal, Lara
+AU - Kamal L
+AD - Department of Life Sciences, Hereditary Research Laboratory, Bethlehem
+ University, Bethlehem, 72372, Palestine.
+FAU - Zahdeh, Fouad
+AU - Zahdeh F
+AD - Department of Life Sciences, Hereditary Research Laboratory, Bethlehem
+ University, Bethlehem, 72372, Palestine.
+FAU - Dajani, Dania
+AU - Dajani D
+AD - Istishari Arab Hospital, Molecular Genetics Lab, Ramallah, Palestine.
+FAU - Atawneh, Osama
+AU - Atawneh O
+AD - Pediatric Neurology Unit, Red Crescent Society Hospital, Hebron, Palestine.
+FAU - Alsharha, Mohammed Ali
+AU - Alsharha MA
+AD - Palestinian Ministry of Health, Bethlehem, Palestine.
+FAU - Damseh, Nadirah
+AU - Damseh N
+AD - Department of Pediatrics, Al Makassed Hospital, Jerusalem, Palestine.
+AD - Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
+FAU - Abu-Libdeh, Bassam
+AU - Abu-Libdeh B
+AD - Department of Pediatrics, Al Makassed Hospital, Jerusalem, Palestine.
+AD - Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
+FAU - Dweikat, Imad
+AU - Dweikat I
+AD - Metabolic Department, Arab American University, Jenin, Palestine.
+FAU - Handal, Nader
+AU - Handal N
+AD - Caritas Baby Hospital, Bethlehem, Palestine.
+FAU - Kanaan, Moien
+AU - Kanaan M
+AD - Department of Life Sciences, Hereditary Research Laboratory, Bethlehem
+ University, Bethlehem, 72372, Palestine. mkanaan@bethlehem.edu.
+LA - eng
+PT - Journal Article
+DEP - 20260608
+PL - England
+TA - BMC Med Genomics
+JT - BMC medical genomics
+JID - 101319628
+SB - IM
+OTO - NOTNLM
+OT - TANGO2 deficiency disorder
+OT - Consanguinity
+OT - Exome sequencing
+OT - Founder mutation
+OT - Haplotype analysis
+OT - Metabolic crisis
+OT - Neurodevelopmental disorder
+OT - Palestinian Arabs
+OT - Rare disease
+OT - Rhabdomyolysis
+COIS- Declarations. Ethics approval and consent to participate: This study was approved
+ by the Institutional Review Board (IRB) of Bethlehem University [IRB00010698].
+ All procedures were conducted in accordance with the Declaration of Helsinki.
+ Written informed consent to participate was obtained from all participants and
+ the parents/legal guardians of minors. Consent for publication: Written informed
+ consent for publication of their personal or clinical details along with any
+ identifying images has been obtained from all the participants and the
+ parents/legal guardians of minors. Competing interests: The authors declare no
+ competing interests.
+EDAT- 2026/06/09 06:36
+MHDA- 2026/06/09 06:36
+CRDT- 2026/06/09 00:09
+PHST- 2026/02/02 00:00 [received]
+PHST- 2026/06/01 00:00 [accepted]
+PHST- 2026/06/09 06:36 [medline]
+PHST- 2026/06/09 06:36 [pubmed]
+PHST- 2026/06/09 00:09 [entrez]
+AID - 10.1186/s12920-026-02407-5 [pii]
+AID - 10.1186/s12920-026-02407-5 [doi]
+PST - aheadofprint
+SO - BMC Med Genomics. 2026 Jun 8. doi: 10.1186/s12920-026-02407-5.
+
+PMID- 42253100
+OWN - NLM
+STAT- Publisher
+LR - 20260608
+IS - 2214-3602 (Electronic)
+IS - 2214-3599 (Linking)
+DP - 2026 Jun 8
+TI - Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak
+ cough flow.
+PG - 22143602261452334
+LID - 10.1177/22143602261452334 [doi]
+AB - BackgroundFriedreich's ataxia (FRDA), a common hereditary ataxia with multisystem
+ involvement, is caused by a biallelic GAA trinucleotide repeat expansion in the
+ FXN gene, leading to reduced frataxin, mitochondrial dysfunction, and oxidative
+ stress. This study evaluates cough effectiveness through voluntary peak cough
+ flow (PCF).ObjectivesThe objective was to assess airway clearance dysfunction in
+ individuals with FRDA by examining PCF and its relationship with pulmonary and
+ oral strength, disease severity, and genetic factors.MethodsThis cross-sectional
+ study, part of the Biomarkers in Friedreich's Ataxia observational study,
+ involved 51 participants with molecularly proven FRDA undergoing respiratory
+ testing, including spirometry, PCF, maximal respiratory pressures, sniff nasal
+ inspiratory pressure, and lingual strength. Neurological impairment was assessed
+ using the Modified Friedreich's Ataxia Rating Scale (mFARS) and Functional
+ Staging for Ataxia.ResultsForty-seven participants completed PCF tests (31
+ female; mean age 22.60 years). Twenty-nine (61.7%) remained ambulant (mean mFARS
+ 49.91). Seventeen (36.17%) had reduced PCF (<270 L/min). Lower PCF correlated
+ with younger age, earlier disease onset, and decreased respiratory muscle
+ strength. PCF showed strong associations with maximal inspiratory pressure (MIP),
+ forced vital capacity (FVCpp), and maximal expiratory pressure (MEP). Multiple
+ regression identified MIP and age of symptom onset as primary
+ predictors.ConclusionsThe study demonstrates respiratory dysfunction in patients
+ with FRDA, and shows that disease severity and muscle weakness affect airway
+ clearance. PCF is a more direct and clinically meaningful indicator of cough
+ effectiveness than FVCpp. Comprehensive respiratory evaluations, including
+ muscle-strength testing, can identify individuals who may benefit from targeted
+ interventions to prevent complications.
+FAU - Smith, Barbara K
+AU - Smith BK
+AD - Department of Physical Therapy, College of Public Health and Health Profession,
+ University of Florida, Gainesville, FL, USA. RINGGOLD: 50543
+FAU - Coker, Mackenzi A
+AU - Coker MA
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Liberati, Cristina
+AU - Liberati C
+AUID- ORCID: 0000-0003-0394-7358
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Meyer, Blake P
+AU - Meyer BP
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Norman, Samantha
+AU - Norman S
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Ehrbar, Jessica
+AU - Ehrbar J
+AD - Department of Physical Therapy, College of Public Health and Health Profession,
+ University of Florida, Gainesville, FL, USA. RINGGOLD: 50543
+FAU - Leon-Astudillo, Carmen
+AU - Leon-Astudillo C
+AUID- ORCID: 0000-0003-1800-4301
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+FAU - Subramony, Sub
+AU - Subramony S
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+AD - Department of Neurology, College of Medicine, University of Florida, Gainesville,
+ FL, USA. RINGGOLD: 12233
+FAU - Corti, Manuela
+AU - Corti M
+AD - Department of Pediatrics, College of Medicine, University of Florida,
+ Gainesville, FL, USA. RINGGOLD: 12233
+AD - Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.
+LA - eng
+PT - Journal Article
+DEP - 20260608
+PL - United States
+TA - J Neuromuscul Dis
+JT - Journal of neuromuscular diseases
+JID - 101649948
+SB - IM
+OTO - NOTNLM
+OT - Friedreich's ataxia
+OT - airway protection
+OT - breathing
+OT - cough
+EDAT- 2026/06/08 06:35
+MHDA- 2026/06/08 06:35
+CRDT- 2026/06/08 05:23
+PHST- 2026/06/08 06:35 [medline]
+PHST- 2026/06/08 06:35 [pubmed]
+PHST- 2026/06/08 05:23 [entrez]
+AID - 10.1177/22143602261452334 [doi]
+PST - aheadofprint
+SO - J Neuromuscul Dis. 2026 Jun 8:22143602261452334. doi: 10.1177/22143602261452334.
+
+PMID- 42245955
+OWN - NLM
+STAT- PubMed-not-MEDLINE
+DCOM- 20260605
+LR - 20260605
+IS - 2296-858X (Print)
+IS - 2296-858X (Electronic)
+IS - 2296-858X (Linking)
+VI - 13
+DP - 2026
+TI - Case Report: Neuronal intranuclear inclusion disease mimicking recurrent stroke
+ in the setting of intracranial stenosis.
+PG - 1838444
+LID - 10.3389/fmed.2026.1838444 [doi]
+LID - 1838444
+AB - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare, progressive
+ neurodegenerative disorder that can present with stroke-like episodes, posing a
+ significant diagnostic challenge. This difficulty is compounded when it coincides
+ with intracranial atherosclerotic stenosis, a common cause of recurrent stroke.
+ CASE PRESENTATION: We report the case of a 64-years-old woman without
+ conventional vascular risk factors who presented with a recurrent acute focal
+ neurological deficit-her sixth similar episode over 8 years, each previously
+ diagnosed as cerebral infarction. Brain magnetic resonance imaging (MRI) revealed
+ a new area of restricted diffusion in the right frontoparietal region and an
+ ipsilateral middle cerebral artery (MCA) M2 segment stenosis (>50%). Crucially, a
+ systematic review of the diffusion-weighted imaging (DWI) sequences identified
+ the pathognomonic linear hyperintensity along the corticomedullary junction,
+ known as the "ribbon sign," which is highly suggestive of NIID. Despite a
+ negative genetic test for the NOTCH2NLC GGC repeat expansion, the diagnosis was
+ confirmed by a minimally invasive skin biopsy, which demonstrated characteristic
+ non-membranous intranuclear inclusions on electron microscopy. CONCLUSION: We
+ highlight the imperative to recognize this specific and pathognomonic
+ neuroimaging pattern even in the presence of coincidental atherosclerosis.
+ Furthermore, we detail the systematic diagnostic approach when genetic testing is
+ unrevealing, emphasizing the pivotal role of targeted tissue biopsy in achieving
+ a definitive diagnosis. This report underscores the key learning points in
+ evaluating acute stroke mimics with atypical evolution.
+CI - Copyright (c) 2026 Zhao, Shen and Chi.
+FAU - Zhao, Jingmin
+AU - Zhao J
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+FAU - Shen, Guangxun
+AU - Shen G
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+FAU - Chi, Lumei
+AU - Chi L
+AD - Department of Neurology, China-Japan Union Hospital of Jilin University,
+ Changchun, China.
+LA - eng
+PT - Case Reports
+PT - Journal Article
+DEP - 20260520
+PL - Switzerland
+TA - Front Med (Lausanne)
+JT - Frontiers in medicine
+JID - 101648047
+PMC - PMC13229711
+OTO - NOTNLM
+OT - diffusion magnetic resonance imaging
+OT - intracranial atherosclerosis
+OT - neuronal intranuclear inclusion disease
+OT - skin biopsy
+OT - stroke mimics
+COIS- The author(s) declared that this work was conducted in the absence of any
+ commercial or financial relationships that could be construed as a potential
+ conflict of interest.
+EDAT- 2026/06/05 06:36
+MHDA- 2026/06/05 06:37
+PMCR- 2026/05/20
+CRDT- 2026/06/05 05:09
+PHST- 2026/03/25 00:00 [received]
+PHST- 2026/05/05 00:00 [revised]
+PHST- 2026/05/07 00:00 [accepted]
+PHST- 2026/06/05 06:37 [medline]
+PHST- 2026/06/05 06:36 [pubmed]
+PHST- 2026/06/05 05:09 [entrez]
+PHST- 2026/05/20 00:00 [pmc-release]
+AID - 10.3389/fmed.2026.1838444 [doi]
+PST - epublish
+SO - Front Med (Lausanne). 2026 May 20;13:1838444. doi: 10.3389/fmed.2026.1838444.
+ eCollection 2026.
+
+PMID- 42243151
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260611
+LR - 20260618
+IS - 2041-1723 (Electronic)
+IS - 2041-1723 (Linking)
+VI - 17
+IP - 1
+DP - 2026 Jun 4
+TI - GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's
+ disease.
+LID - 10.1038/s41467-026-73902-7 [doi]
+LID - 4968
+AB - GWAS typically focus on SNPs, often excluding complex genetic variants, such as
+ short tandem repeats. Here, we report the results of GWAS analyses systematically
+ assessing the role of short tandem repeats, both imputed and directly genotyped
+ by whole genome sequencing, on risk for Alzheimer's disease in a large collection
+ of ~330,000 individuals (3287 cases; 47,048 Alzheimer's disease-by-proxy cases,
+ 283,111 controls) from the UK biobank. Using short tandem repeat genotype data,
+ we identify 15 independent loci showing evidence for genome-wide significant
+ association with Alzheimer's disease risk. While most identified loci had already
+ been highlighted by SNP-based GWAS, we detect short tandem repeat-based signals
+ near the genes SNX32 (chr. 11q13) and WSB1 (chr. 17q11). In addition, we
+ delineate several other loci where short tandem repeats (and not SNPs) either
+ represent the lead signal (ABCA7) or make substantial contributions to the
+ SNP-driven associations (HLA-DRB1, MINDY/ADAM10, and APOE). Heritability analyses
+ estimate that short tandem repeats account for at least 3% of the total
+ phenotypic variance of Alzheimer's disease in this dataset. Aligning our top
+ short tandem repeats with DNA methylation and transcriptome profiles from human
+ brain samples suggests that several short tandem repeats may unfold their effects
+ by impacting gene expression.
+CI - (c) 2026. The Author(s).
+FAU - Gmelin, David
+AU - Gmelin D
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany.
+FAU - Ohlei, Olena
+AU - Ohlei O
+AUID- ORCID: 0009-0003-7721-6803
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany.
+AD - Institute of Epidemiology and Social Medicine, University of Munster, Munster,
+ Germany.
+FAU - Aslam, M Muaaz
+AU - Aslam MM
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany.
+FAU - Junge, Marit P
+AU - Junge MP
+AUID- ORCID: 0009-0001-0333-3105
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany.
+FAU - Parkkinen, Laura
+AU - Parkkinen L
+AUID- ORCID: 0000-0002-3392-8564
+AD - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
+FAU - Mullin, Kristina
+AU - Mullin K
+AD - Genetics and Aging Research Unit and McCance Center for Brain Health, Department
+ of Neurology, Massachusetts General Hospital, Boston, MA, USA.
+FAU - Prokopenko, Dmitry
+AU - Prokopenko D
+AUID- ORCID: 0000-0002-1844-5652
+AD - Genetics and Aging Research Unit and McCance Center for Brain Health, Department
+ of Neurology, Massachusetts General Hospital, Boston, MA, USA.
+AD - Harvard Medical School, Boston, MA, USA.
+FAU - Lill, Christina M
+AU - Lill CM
+AUID- ORCID: 0000-0002-2805-1307
+AD - Institute of Epidemiology and Social Medicine, University of Munster, Munster,
+ Germany.
+AD - Ageing Epidemiology Research Unit (AGE), School of Public Health, Imperial
+ College London, London, UK.
+FAU - Tanzi, Rudolph E
+AU - Tanzi RE
+AUID- ORCID: 0000-0002-7032-1454
+AD - Genetics and Aging Research Unit and McCance Center for Brain Health, Department
+ of Neurology, Massachusetts General Hospital, Boston, MA, USA.
+AD - Harvard Medical School, Boston, MA, USA.
+FAU - Dobricic, Valerija
+AU - Dobricic V
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany.
+FAU - Bertram, Lars
+AU - Bertram L
+AUID- ORCID: 0000-0002-0108-124X
+AD - Lubeck Interdisciplinary Platform for Genome Analytics (LIGA), University of
+ Lubeck, Lubeck, Germany. lars.bertram@uni-luebeck.de.
+LA - eng
+PT - Journal Article
+DEP - 20260604
+PL - England
+TA - Nat Commun
+JT - Nature communications
+JID - 101528555
+SB - IM
+MH - Humans
+MH - *Alzheimer Disease/genetics
+MH - *Genome-Wide Association Study
+MH - Polymorphism, Single Nucleotide
+MH - *Genetic Predisposition to Disease
+MH - *Microsatellite Repeats/genetics
+MH - Female
+MH - Male
+MH - Genotype
+MH - Aged
+MH - Whole Genome Sequencing
+PMC - PMC13237113
+COIS- Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/05 00:34
+MHDA- 2026/06/11 12:40
+PMCR- 2026/06/04
+CRDT- 2026/06/04 23:19
+PHST- 2025/02/26 00:00 [received]
+PHST- 2026/05/19 00:00 [accepted]
+PHST- 2026/06/11 12:40 [medline]
+PHST- 2026/06/05 00:34 [pubmed]
+PHST- 2026/06/04 23:19 [entrez]
+PHST- 2026/06/04 00:00 [pmc-release]
+AID - 10.1038/s41467-026-73902-7 [pii]
+AID - 73902 [pii]
+AID - 10.1038/s41467-026-73902-7 [doi]
+PST - epublish
+SO - Nat Commun. 2026 Jun 4;17(1):4968. doi: 10.1038/s41467-026-73902-7.
+
+PMID- 42236257
+OWN - NLM
+STAT- Publisher
+LR - 20260603
+IS - 1531-8257 (Electronic)
+IS - 0885-3185 (Linking)
+DP - 2026 Jun 3
+TI - Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia
+ Cohort.
+LID - 10.1002/mds.70387 [doi]
+AB - BACKGROUND: Spinocerebellar ataxia 4 (SCA4) is a late-onset dominant ataxia with
+ neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to
+ originate from a Swedish founder event. The GC-rich expansion is highly
+ thermodynamically stable, posing challenges for standard clinical genetic testing
+ methods. Development of a high-throughput relatively inexpensive detection method
+ would benefit both clinical diagnostic testing and large-scale research
+ applications. OBJECTIVE: Using a cost-effective high-throughput polymerase chain
+ reaction (PCR) assay, we assessed the frequency of SCA4 repeat expansion in an
+ undiagnosed US ataxia cohort. METHOD: Primers flanking the ZFHX3 repeat region
+ were used under optimized PCR conditions to assess for expanded GGC repeats in
+ 687 undiagnosed ataxia patients. Repeat size was determined by fragment analysis
+ and orthogonally confirmed with long-read sequencing (Oxford Nanopore
+ Technologies). RESULTS: We identified pathogenic SCA4 expansions in three
+ families with cerebellar ataxia and sensory/autonomic neuropathy. The pathogenic
+ alleles were confirmed to be of Swedish ancestry using comprehensive haplotype
+ analysis of 14 single nucleotide polymorphisms (SNPs) previously associated with
+ ZFHX3 expansion. Two families carried all 14 SNPs, suggesting this may represent
+ an ancestral haplotype. Utilizing a minimal haplotype present in all reported
+ patients, we bioinformatically assessed 852 additional subjects, for a total of
+ 1539 screened, but did not identify additional SCA4 patients. CONCLUSION: Using a
+ high-throughput cost-effective PCR assay, we identified three SCA4 families in a
+ large US ataxia cohort. Haplotype analysis supports a common Swedish founder
+ allele, consistent with previously reported SCA4 cases. SCA4 diagnostic testing
+ is recommended for all patients of Swedish ancestry with undiagnosed ataxia. (c)
+ 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on
+ behalf of International Parkinson and Movement Disorder Society.
+CI - (c) 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on
+ behalf of International Parkinson and Movement Disorder Society.
+FAU - Chen, Annie
+AU - Chen A
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Avadhani, Udbhav
+AU - Avadhani U
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Ngo, Kathie
+AU - Ngo K
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Corona, Rosario I
+AU - Corona RI
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Neto, George de V Carvalho
+AU - Neto GVC
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Figueroa, Karla P
+AU - Figueroa KP
+AD - Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
+CN - Undiagnosed Diseases Network
+FAU - Perlman, Susan
+AU - Perlman S
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Pulst, Stefan M
+AU - Pulst SM
+AD - Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
+FAU - Nelson, Stanley F
+AU - Nelson SF
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+FAU - Wong, Darice
+AU - Wong D
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Clinical Neurogenomics Research Center, UCLA Department of Neurology, David
+ Geffen School of Medicine, University of California, Los Angeles, Los Angeles,
+ California, USA.
+FAU - Fogel, Brent L
+AU - Fogel BL
+AD - Department of Neurology, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Department of Human Genetics, David Geffen School of Medicine, University of
+ California, Los Angeles, Los Angeles, California, USA.
+AD - Clinical Neurogenomics Research Center, UCLA Department of Neurology, David
+ Geffen School of Medicine, University of California, Los Angeles, Los Angeles,
+ California, USA.
+LA - eng
+GR - UL1TR001881/TR/NCATS NIH HHS/United States
+GR - X01NS141718/NH/NIH HHS/United States
+GR - The UCLA California Center for Rare Diseases/
+GR - Generous donors to the University of California./
+GR - R35NS127253/NS/NINDS NIH HHS/United States
+GR - The Rindlisbacher Endowment for Neurodegeneration Research./
+PT - Journal Article
+DEP - 20260603
+PL - United States
+TA - Mov Disord
+JT - Movement disorders : official journal of the Movement Disorder Society
+JID - 8610688
+SB - IM
+OTO - NOTNLM
+OT - DNA Repeat Expansion
+OT - Genetic Screening
+OT - Haplotypes
+OT - PCR
+OT - Spinocerebellar Ataxia 4
+FIR - Nouraee, Arian
+IR - Nouraee A
+FIR - Prada, Carlos
+IR - Prada C
+FIR - Davis, Erica
+IR - Davis E
+FIR - Yap, Kai Lee
+IR - Yap KL
+FIR - Regan-Fendt, Kelly
+IR - Regan-Fendt K
+FIR - Silva, Maria Paula
+IR - Silva MP
+FIR - McMullen, Patrick
+IR - McMullen P
+FIR - Tran, Alyssa A
+IR - Tran AA
+FIR - Tarakad, Arjun
+IR - Tarakad A
+FIR - Lee, Brendan H
+IR - Lee BH
+FIR - Bacino, Carlos A
+IR - Bacino CA
+FIR - Eng, Christine M
+IR - Eng CM
+FIR - Scott, Daryl A
+IR - Scott DA
+FIR - Seto, Elaine
+IR - Seto E
+FIR - Dai, Hongzheng
+IR - Dai H
+FIR - Chao, Hsiao-Tuan
+IR - Chao HT
+FIR - Bellen, Hugo J
+IR - Bellen HJ
+FIR - Chinn, Ivan
+IR - Chinn I
+FIR - Orengo, James P
+IR - Orengo JP
+FIR - Sninsky, Jared
+IR - Sninsky J
+FIR - Rosenfeld, Jill A
+IR - Rosenfeld JA
+FIR - Worley, Kim
+IR - Worley K
+FIR - Blieden, Lauren
+IR - Blieden L
+FIR - Burrage, Lindsay C
+IR - Burrage LC
+FIR - Potocki, Lorraine
+IR - Potocki L
+FIR - Wangler, Michael F
+IR - Wangler MF
+FIR - Hubshman, Monika Weisz
+IR - Hubshman MW
+FIR - Liu, Pengfei
+IR - Liu P
+FIR - Lewis, Richard A
+IR - Lewis RA
+FIR - Marom, Ronit
+IR - Marom R
+FIR - Nagamani, Sandesh
+IR - Nagamani S
+FIR - Lalani, Seema R
+IR - Lalani SR
+FIR - Ketkar, Shamika
+IR - Ketkar S
+FIR - Yamamoto, Shinya
+IR - Yamamoto S
+FIR - Vogel, Tiphanie P
+IR - Vogel TP
+FIR - Craigen, William J
+IR - Craigen WJ
+FIR - Beggs, Alan H
+IR - Beggs AH
+FIR - Mochida, Ganesh
+IR - Mochida G
+FIR - Berry, Gerard T
+IR - Berry GT
+FIR - Holm, Ingrid A
+IR - Holm IA
+FIR - Rodan, Lance H
+IR - Rodan LH
+FIR - Truong, Tina
+IR - Truong T
+FIR - Chung, Wendy
+IR - Chung W
+FIR - Chiang, David
+IR - Chiang D
+FIR - Rao, Deepak A
+IR - Rao DA
+FIR - Pallais, J Carl
+IR - Pallais JC
+FIR - Loscalzo, Joseph
+IR - Loscalzo J
+FIR - Abdenur, Jose
+IR - Abdenur J
+FIR - Steenari, Maija-Rikka
+IR - Steenari MR
+FIR - Barrick, Rebekah
+IR - Barrick R
+FIR - Chang, Richard
+IR - Chang R
+FIR - Skraban, Cara
+IR - Skraban C
+FIR - Kilich, Gonench
+IR - Kilich G
+FIR - Sullivan, Kathleen
+IR - Sullivan K
+FIR - Rajagopalan, Ramakrishnan
+IR - Rajagopalan R
+FIR - Ganetzky, Rebecca
+IR - Ganetzky R
+FIR - Slavotinek, Anne
+IR - Slavotinek A
+FIR - Mayhew, Christopher
+IR - Mayhew C
+FIR - Mendonca, Eneida
+IR - Mendonca E
+FIR - Guo, Ziyuan
+IR - Guo Z
+FIR - Schoch, Kelly
+IR - Schoch K
+FIR - Mikati, Mohamad
+IR - Mikati M
+FIR - Walley, Nicole M
+IR - Walley NM
+FIR - Spillmann, Rebecca C
+IR - Spillmann RC
+FIR - Shashi, Vandana
+IR - Shashi V
+FIR - Esteves, Cecilia
+IR - Esteves C
+FIR - Glanton, Emily
+IR - Glanton E
+FIR - Kohane, Isaac S
+IR - Kohane IS
+FIR - LeBlanc, Kimberly
+IR - LeBlanc K
+FIR - Kobren, Shilpa N
+IR - Kobren SN
+FIR - Iverson, Ayuko
+IR - Iverson A
+FIR - Gelb, Bruce
+IR - Gelb B
+FIR - Cunningham-Rundles, Charlotte
+IR - Cunningham-Rundles C
+FIR - Gayle, Eric
+IR - Gayle E
+FIR - Jen, Joanna
+IR - Jen J
+FIR - Bier, Louise
+IR - Bier L
+FIR - Barbosa, Mafalda
+IR - Barbosa M
+FIR - Balwani, Manisha
+IR - Balwani M
+FIR - Shadrina, Mariya
+IR - Shadrina M
+FIR - Evard, Rachel
+IR - Evard R
+FIR - Shuman, Saskia
+IR - Shuman S
+FIR - Shin, Susan
+IR - Shin S
+FIR - Graham, Brett H
+IR - Graham BH
+FIR - Conboy, Erin
+IR - Conboy E
+FIR - Vetrini, Francesco
+IR - Vetrini F
+FIR - Treat, Kayla M
+IR - Treat KM
+FIR - Liaqat, Khurram
+IR - Liaqat K
+FIR - Mantcheva, Lili
+IR - Mantcheva L
+FIR - Ware, Stephanie M
+IR - Ware SM
+FIR - Wohler, Elizabeth
+IR - Wohler E
+FIR - Hoover-Fong, Julie
+IR - Hoover-Fong J
+FIR - Page, Kathleen
+IR - Page K
+FIR - Robinson, Matthew
+IR - Robinson M
+FIR - Sobreira, Nara
+IR - Sobreira N
+FIR - Auwaerter, Paul
+IR - Auwaerter P
+FIR - Timp, Winston
+IR - Timp W
+FIR - Manabe, Yuka
+IR - Manabe Y
+FIR - Sweetser, David A
+IR - Sweetser DA
+FIR - High, Frances
+IR - High F
+FIR - Briere, Lauren C
+IR - Briere LC
+FIR - Walker, Melissa
+IR - Walker M
+FIR - Mitchell, Breanna
+IR - Mitchell B
+FIR - Lanpher, Brendan C
+IR - Lanpher BC
+FIR - Oglesbee, Devin
+IR - Oglesbee D
+FIR - Klee, Eric
+IR - Klee E
+FIR - Vairo, Filippo Pinto E
+IR - Vairo FPE
+FIR - Lanza, Ian R
+IR - Lanza IR
+FIR - Darr, Kahlen
+IR - Darr K
+FIR - Mulvihill, Lindsay
+IR - Mulvihill L
+FIR - Schimmenti, Lisa
+IR - Schimmenti L
+FIR - Tan, Queenie
+IR - Tan Q
+FIR - Elkadri, Abdul
+IR - Elkadri A
+FIR - Bordini, Brett
+IR - Bordini B
+FIR - Basel, Donald
+IR - Basel D
+FIR - Verbsky, James
+IR - Verbsky J
+FIR - McCarrier, Julie
+IR - McCarrier J
+FIR - Muriello, Michael
+IR - Muriello M
+FIR - Zimmermann, Michael T
+IR - Zimmermann MT
+FIR - Taylor, Herman
+IR - Taylor H
+FIR - Quarells, Rakale C
+IR - Quarells RC
+FIR - Gropman, Andrea
+IR - Gropman A
+FIR - Pusey Swerdzewski, Barbara N
+IR - Pusey Swerdzewski BN
+FIR - Afzali, Ben
+IR - Afzali B
+FIR - Solomon, Ben
+IR - Solomon B
+FIR - Toro, Camilo
+IR - Toro C
+FIR - Wahl, Colleen E
+IR - Wahl CE
+FIR - Tifft, Cynthia J
+IR - Tifft CJ
+FIR - Adams, David R
+IR - Adams DR
+FIR - Novacic, Donna
+IR - Novacic D
+FIR - Burke, Elizabeth A
+IR - Burke EA
+FIR - Macnamara, Ellen F
+IR - Macnamara EF
+FIR - Rossignol, Francis
+IR - Rossignol F
+FIR - Wood, Heidi
+IR - Wood H
+FIR - Fu, Jiayu
+IR - Fu J
+FIR - Davis, Joie
+IR - Davis J
+FIR - Petcharet, Leoyklang
+IR - Petcharet L
+FIR - Wolfe, Lynne A
+IR - Wolfe LA
+FIR - Delgado, Margaret
+IR - Delgado M
+FIR - Acosta, Maria T
+IR - Acosta MT
+FIR - Morimoto, Marie
+IR - Morimoto M
+FIR - Sabaii, Marla
+IR - Sabaii M
+FIR - Malicdan, May Christine V
+IR - Malicdan MCV
+FIR - Hanchard, Neil
+IR - Hanchard N
+FIR - Jean-Marie, Orpa
+IR - Jean-Marie O
+FIR - D'Souza, Precilla
+IR - D'Souza P
+FIR - Maduro, Valerie V
+IR - Maduro VV
+FIR - Introne, Wendy
+IR - Introne W
+FIR - Gahl, William A
+IR - Gahl WA
+FIR - Huang, Yan
+IR - Huang Y
+FIR - Jobanputra, Vaidehi
+IR - Jobanputra V
+FIR - Chan, Chun-Hung
+IR - Chan CH
+FIR - Ward, D Isum
+IR - Ward DI
+FIR - Bustos, Francisco
+IR - Bustos F
+FIR - Schend, Jason
+IR - Schend J
+FIR - Morgan, Jennifer
+IR - Morgan J
+FIR - Bell, Megan
+IR - Bell M
+FIR - Leitheiser, Miranda
+IR - Leitheiser M
+FIR - Saifeddine, Mohamad
+IR - Saifeddine M
+FIR - Berger, Paul
+IR - Berger P
+FIR - Li, Rachel
+IR - Li R
+FIR - Beagle, Taylor
+IR - Beagle T
+FIR - Shelkowitz, Emily
+IR - Shelkowitz E
+FIR - Allenspach, Eric
+IR - Allenspach E
+FIR - Dipple, Katrina
+IR - Dipple K
+FIR - Perlman, Seth
+IR - Perlman S
+FIR - Martin, Beth A
+IR - Martin BA
+FIR - Reuter, Chloe M
+IR - Reuter CM
+FIR - Bonner, Devon
+IR - Bonner D
+FIR - Ashley, Euan A
+IR - Ashley EA
+FIR - Mendez, Hector Rodrigo
+IR - Mendez HR
+FIR - Tabor, Holly K
+IR - Tabor HK
+FIR - Sampson, Jacinda B
+IR - Sampson JB
+FIR - Hom, Jason
+IR - Hom J
+FIR - Kohler, Jennefer N
+IR - Kohler JN
+FIR - Schymick, Jennifer
+IR - Schymick J
+FIR - Gorzynski, John E
+IR - Gorzynski JE
+FIR - Bernstein, Jonathan A
+IR - Bernstein JA
+FIR - Smith, Kevin S
+IR - Smith KS
+FIR - Keehan, Laura
+IR - Keehan L
+FIR - Wiel, Laurens
+IR - Wiel L
+FIR - Wheeler, Matthew T
+IR - Wheeler MT
+FIR - Halley, Meghan C
+IR - Halley MC
+FIR - Levanto, Mia
+IR - Levanto M
+FIR - Goddard, Page C
+IR - Goddard PC
+FIR - Fisher, Paul G
+IR - Fisher PG
+FIR - Ungar, Rachel A
+IR - Ungar RA
+FIR - Alvarez, Raquel L
+IR - Alvarez RL
+FIR - Marwaha, Shruti
+IR - Marwaha S
+FIR - Montgomery, Stephen B
+IR - Montgomery SB
+FIR - Bachir, Suha
+IR - Bachir S
+FIR - Jensen, Tanner D
+IR - Jensen TD
+FIR - Maurer, Taylor
+IR - Maurer T
+FIR - Coakley, Terra R
+IR - Coakley TR
+FIR - Sayer, Dana
+IR - Sayer D
+FIR - Tousseau, Jennifer
+IR - Tousseau J
+FIR - Foksinska, Aleksandra
+IR - Foksinska A
+FIR - Crouse, Andrew B
+IR - Crouse AB
+FIR - Hurst, Anna
+IR - Hurst A
+FIR - Wilk, Brandon M
+IR - Wilk BM
+FIR - Korf, Bruce R
+IR - Korf BR
+FIR - Worthey, Elizabeth A
+IR - Worthey EA
+FIR - Callaway, Kaitlin
+IR - Callaway K
+FIR - Rodriguez, Martin
+IR - Rodriguez M
+FIR - Might, Matthew
+IR - Might M
+FIR - Lertwilaiwittaya, Pongtawat
+IR - Lertwilaiwittaya P
+FIR - Blackburn, Reaford
+IR - Blackburn R
+FIR - Washington, Teneasha
+IR - Washington T
+FIR - Byrd, William E
+IR - Byrd WE
+FIR - La Spada, Albert R
+IR - La Spada AR
+FIR - Xiao, Changrui
+IR - Xiao C
+FIR - Chao, Elizabeth C
+IR - Chao EC
+FIR - Vilain, Eric
+IR - Vilain E
+FIR - Blanco, Kirsten
+IR - Blanco K
+FIR - Attaripour, Sanaz
+IR - Attaripour S
+FIR - Mozaffar, Tahseen
+IR - Mozaffar T
+FIR - Huang, Alden
+IR - Huang A
+FIR - Vargas, Andres
+IR - Vargas A
+FIR - Fogel, Brent L
+IR - Fogel BL
+FIR - Carvalho, George
+IR - Carvalho G
+FIR - Martinez-Agosto, Julian A
+IR - Martinez-Agosto JA
+FIR - Abi Farraj, Layal F
+IR - Abi Farraj LF
+FIR - Butte, Manish J
+IR - Butte MJ
+FIR - Martin, Martin G
+IR - Martin MG
+FIR - Dorrani, Naghmeh
+IR - Dorrani N
+FIR - Parker, Neil H
+IR - Parker NH
+FIR - Corona, Rosario I
+IR - Corona RI
+FIR - Nelson, Stanley F
+IR - Nelson SF
+FIR - Karasozen, Yigit
+IR - Karasozen Y
+FIR - Smith, Carson A
+IR - Smith CA
+FIR - Barbouth, Deborah
+IR - Barbouth D
+FIR - Bademci, Guney
+IR - Bademci G
+FIR - Gonzalez, Joanna M
+IR - Gonzalez JM
+FIR - Latchman, Kumarie
+IR - Latchman K
+FIR - Peart, LeShon
+IR - Peart L
+FIR - Tekin, Mustafa
+IR - Tekin M
+FIR - Borja, Nicholas
+IR - Borja N
+FIR - Zuchner, Stephan
+IR - Zuchner S
+FIR - Bivona, Stephanie
+IR - Bivona S
+FIR - Thorson, Willa
+IR - Thorson W
+FIR - Westerfield, Monte
+IR - Westerfield M
+FIR - Raper, Anna
+IR - Raper A
+FIR - Rader, Daniel J
+IR - Rader DJ
+FIR - Sirugo, Giorgio
+IR - Sirugo G
+FIR - Quinlan, Aaron
+IR - Quinlan A
+FIR - Ward, Alistair
+IR - Ward A
+FIR - Andrews, Ashley
+IR - Andrews A
+FIR - Welt, Corrine K
+IR - Welt CK
+FIR - Viskochil, Dave
+IR - Viskochil D
+FIR - Baldwin, Erin E
+IR - Baldwin EE
+FIR - Marth, Gabor
+IR - Marth G
+FIR - Carey, John
+IR - Carey J
+FIR - Botto, Lorenzo
+IR - Botto L
+FIR - Velinder, Matt
+IR - Velinder M
+FIR - Longo, Nicola
+IR - Longo N
+FIR - Moretti, Paolo
+IR - Moretti P
+FIR - Bayrak-Toydemir, Pinar
+IR - Bayrak-Toydemir P
+FIR - Overbury, Rebecca
+IR - Overbury R
+FIR - Mao, Rong
+IR - Mao R
+FIR - Butterfield, Russell
+IR - Butterfield R
+FIR - Boyden, Steven
+IR - Boyden S
+FIR - Nicholas, Thomas J
+IR - Nicholas TJ
+FIR - Stergachis, Andrew
+IR - Stergachis A
+FIR - Miller, Danny E
+IR - Miller DE
+FIR - Rosenthal, Elisabeth
+IR - Rosenthal E
+FIR - Blue, Elizabeth
+IR - Blue E
+FIR - Balton, Elsa
+IR - Balton E
+FIR - Hisama, Fuki M
+IR - Hisama FM
+FIR - Jarvik, Gail P
+IR - Jarvik GP
+FIR - Mirzaa, Ghayda
+IR - Mirzaa G
+FIR - Glass, Ian
+IR - Glass I
+FIR - Leppig, Kathleen A
+IR - Leppig KA
+FIR - Wener, Mark
+IR - Wener M
+FIR - Horike-Pyne, Martha
+IR - Horike-Pyne M
+FIR - Bamshad, Michael
+IR - Bamshad M
+FIR - Byers, Peter
+IR - Byers P
+FIR - Kumar, Runjun
+IR - Kumar R
+FIR - Chanprasert, Sirisak
+IR - Chanprasert S
+FIR - Sybert, Virginia
+IR - Sybert V
+FIR - Raskind, Wendy
+IR - Raskind W
+FIR - Krokosky, Alyson
+IR - Krokosky A
+FIR - McMinn, Ashley
+IR - McMinn A
+FIR - Shyr, Cathy
+IR - Shyr C
+FIR - Gamazon, Eric
+IR - Gamazon E
+FIR - Phillips, John A
+IR - Phillips JA
+FIR - Cogan, Joy D
+IR - Cogan JD
+FIR - Ezell, Kimberly
+IR - Ezell K
+FIR - Perera, Lakshitha
+IR - Perera L
+FIR - Bastarache, Lisa
+IR - Bastarache L
+FIR - Rives, Lynette
+IR - Rives L
+FIR - Koziura, Mary
+IR - Koziura M
+FIR - Hamid, Rizwan
+IR - Hamid R
+FIR - Cassini, Thomas
+IR - Cassini T
+FIR - Paul, Alex
+IR - Paul A
+FIR - Kiley, Dana
+IR - Kiley D
+FIR - Wegner, Daniel
+IR - Wegner D
+FIR - Baldridge, Dustin
+IR - Baldridge D
+FIR - Cole, F Sessions
+IR - Cole FS
+FIR - Wambach, Jennifer
+IR - Wambach J
+FIR - Shin, Jimann
+IR - Shin J
+FIR - Sisco, Kathleen A
+IR - Sisco KA
+FIR - Solnica-Krezel, Lilianna
+IR - Solnica-Krezel L
+FIR - Dickson, Patricia
+IR - Dickson P
+FIR - Pak, Stephen C
+IR - Pak SC
+FIR - Schedl, Timothy
+IR - Schedl T
+FIR - Jeffries, Lauren
+IR - Jeffries L
+FIR - Romero, Maria Jose Ortuno
+IR - Romero MJO
+FIR - Kaufman, Odelya
+IR - Kaufman O
+FIR - Serrano, Teodoro Jerves
+IR - Serrano TJ
+FIR - Jiang, Yong-Hui
+IR - Jiang YH
+EDAT- 2026/06/04 00:36
+MHDA- 2026/06/04 00:36
+CRDT- 2026/06/03 21:53
+PHST- 2026/05/01 00:00 [revised]
+PHST- 2026/01/16 00:00 [received]
+PHST- 2026/05/19 00:00 [accepted]
+PHST- 2026/06/04 00:36 [medline]
+PHST- 2026/06/04 00:36 [pubmed]
+PHST- 2026/06/03 21:53 [entrez]
+AID - 10.1002/mds.70387 [doi]
+PST - aheadofprint
+SO - Mov Disord. 2026 Jun 3. doi: 10.1002/mds.70387.
+
+PMID- 42231151
+OWN - NLM
+STAT- Publisher
+LR - 20260603
+IS - 1689-1392 (Electronic)
+IS - 1425-8153 (Linking)
+DP - 2026 Jun 2
+TI - Phosphoproteomic profiling reveals post-translational dysregulation in
+ Huntington's disease patient-derived neurons.
+LID - 10.1186/s11658-026-00948-2 [doi]
+AB - Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a CAG
+ repeat expansion in the Huntingtin gene. Although transcriptomic and proteomic
+ changes have been characterized in patient-derived neurons, the contribution of
+ post-translational modifications, such as phosphorylation, remains poorly
+ understood. Here, we present the first phosphoproteomic analysis by mass
+ spectrometry (P-MS) of human induced neurons (iNs) directly reprogrammed from HD
+ patient fibroblasts. We identified 177 phosphopeptides with significantly altered
+ abundance in HD-iNs, mapping to phosphoproteins associated with key signaling
+ pathways known to be affected in HD, such as splicing and autophagy. By
+ integrating P-MS data with previously published proteomic and transcriptomic data
+ from the same donors, we identified distinct subsets of ON-OFF phosphopeptides
+ that exhibited a complete loss of phosphorylation in either HD- or control-iNs,
+ without corresponding changes at the RNA or protein level. An exception was
+ MXRA8, previously described in glial cells as a mediator of blood-brain barrier
+ integrity and astrocyte-mediated neuroinflammation. This protein showed increased
+ protein abundance despite the absence of phosphorylation in HD-iNs, suggesting a
+ compensatory mechanism. In addition, MXRA8 showed altered protein-protein
+ interactions with lysosomal and metabolic regulators in HD-iNs, highlighting its
+ potential role in autophagy impairment as well as in neurovascular dysfunction.
+ These findings uncover a distinct layer of post-translational dysregulation in
+ HD, suggesting that phospho-switch proteins such as MXRA8 may be candidate
+ effectors of pathology, and thus, site-specific phosphorylation loss may
+ contribute to impaired signaling and proteostasis in human HD neurons.
+CI - (c) 2026. The Author(s).
+FAU - Danics, Lea
+AU - Danics L
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SU Cerebrovascular and Neurocognitive Diseases Research Group, Budapest,
+ Hungary.
+FAU - Muralidharan, Chandramouli
+AU - Muralidharan C
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - Laboratory of Molecular Neurogenetics, Department of Experimental Medical
+ Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund
+ University, Lund, Sweden.
+FAU - Varga, Agnes
+AU - Varga A
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary.
+FAU - Rezeli, Melinda
+AU - Rezeli M
+AD - Division for Biomedical Engineering, Department of Biomedical Engineering, Lund
+ University, Lund, Sweden.
+AD - BioMS-Swedish National Infrastructure for Biological Mass Spectrometry, Lund
+ University, Lund, Sweden.
+FAU - Gil, Jeovanis
+AU - Gil J
+AD - Clinical Chemistry, Department of Translational Medicine, Lund University, Lund,
+ Sweden.
+FAU - Abbas, Anna A
+AU - Abbas AA
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Pap, Adam
+AU - Pap A
+AD - Single Cell Omics Advanced Core Facility, Hungarian Centre of Excellence for
+ Molecular Medicine, Szeged, Hungary.
+AD - Laboratory of Proteomics, Complex Molecular and Cell Biology Service Centre,
+ HUN-REN Biological Research Centre, Szeged, Hungary.
+FAU - Park, Andrew S
+AU - Park AS
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Cserhalmi, Marcell
+AU - Cserhalmi M
+AD - MTA-HUN-REN RCNS Lendulet "Momentum" DNA Repair Research Group, Institute of
+ Molecular Life Sciences, HUN-REN Research Centre for Natural Sciences, Budapest,
+ Hungary.
+FAU - Legault, Emilie M
+AU - Legault EM
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Soth, Armin
+AU - Soth A
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Jamniczky, Dorina
+AU - Jamniczky D
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+FAU - Zsoldos, Roland
+AU - Zsoldos R
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary.
+FAU - Barker, Roger A
+AU - Barker RA
+AD - Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair,
+ Department of Clinical Neurosciences, University of Cambridge, Forvie Site,
+ Cambridge, UK.
+FAU - Rona, Gergely
+AU - Rona G
+AD - MTA-HUN-REN RCNS Lendulet "Momentum" DNA Repair Research Group, Institute of
+ Molecular Life Sciences, HUN-REN Research Centre for Natural Sciences, Budapest,
+ Hungary.
+AD - Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of
+ Medicine, New York, NY, USA.
+FAU - Drouin-Ouellet, Janelle
+AU - Drouin-Ouellet J
+AD - Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.
+AD - Centre de Recherche Sur Le Cerveau Et L'apprentissage (CIRCA), University of
+ Montreal, Montreal, QC, Canada.
+FAU - Marko-Varga, Gyorgy
+AU - Marko-Varga G
+AD - BioMS-Swedish National Infrastructure for Biological Mass Spectrometry, Lund
+ University, Lund, Sweden.
+FAU - Darula, Zsuzsanna
+AU - Darula Z
+AD - Single Cell Omics Advanced Core Facility, Hungarian Centre of Excellence for
+ Molecular Medicine, Szeged, Hungary.
+AD - Laboratory of Proteomics, Complex Molecular and Cell Biology Service Centre,
+ HUN-REN Biological Research Centre, Szeged, Hungary.
+FAU - Pircs, Karolina
+AU - Pircs K
+AD - Institute of Clinical Pathophysiology, Semmelweis University, Budapest, Hungary.
+ pircs.karolina@semmelweis.hu.
+AD - Hungarian Centre of Excellence for Molecular Medicine-Semmelweis University
+ (HCEMM-SU), Neurobiology and Neurodegenerative Diseases Research Group, Budapest,
+ Hungary. pircs.karolina@semmelweis.hu.
+AD - Laboratory of Molecular Neurogenetics, Department of Experimental Medical
+ Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund
+ University, Lund, Sweden. pircs.karolina@semmelweis.hu.
+AD - HUN-REN-SZTAKI-SU Rejuvenation Research Group, HUN-REN Office for Supported
+ Research Groups (TKI), Budapest, Hungary. pircs.karolina@semmelweis.hu.
+LA - eng
+PT - Journal Article
+DEP - 20260602
+PL - England
+TA - Cell Mol Biol Lett
+JT - Cellular & molecular biology letters
+JID - 9607427
+SB - IM
+OTO - NOTNLM
+OT - Autophagy
+OT - Huntington's disease
+OT - Induced neurons
+OT - MXRA8
+OT - Phosphorylation
+OT - Post-translational modification
+COIS- Declarations. Ethics approval and consent to participate: This study was
+ conducted in accordance with the Declaration of Helsinki and all relevant
+ institutional guidelines and regulations. Written informed consent was obtained
+ from all human participants prior to the collection of fibroblast samples. Human
+ dermal fibroblasts were obtained from the Huntington's Disease Clinic at the John
+ van Geest Centre for Brain Repair (Cambridge, UK) and the Fondazione IRCCS
+ Istituto Neurologico Carlo Besta (Milan, Italy) under the following ethical
+ approvals: NHS Research Ethics Committee, United Kingdom (REC 09/H0311/88) and
+ Semmelweis University Regional and Institutional Committee of Science and
+ Research Ethics, Hungary (IV-2625-1/2021/EKU and IV-1029-1/2022/EKU). Experiments
+ involving human fibroblast samples were carried out under the approval
+ IV-2625-1/2021/EKU (Semmelweis University Regional and Institutional Committee of
+ Science and Research Ethics, Hungary). Experiments involving human post mortem
+ brain tissue were performed under approval CERC-2025-7229 from the University of
+ Montreal Research Ethics Committee. This study does not involve a clinical trial;
+ therefore: clinical trial registration numbers are not applicable. Human ethics
+ and consent to participate declarations: All required declarations are provided
+ above. Competing interests: The authors declare no competing interests.
+EDAT- 2026/06/03 06:35
+MHDA- 2026/06/03 06:35
+CRDT- 2026/06/03 00:53
+PHST- 2025/12/09 00:00 [received]
+PHST- 2026/04/27 00:00 [accepted]
+PHST- 2026/06/03 06:35 [medline]
+PHST- 2026/06/03 06:35 [pubmed]
+PHST- 2026/06/03 00:53 [entrez]
+AID - 10.1186/s11658-026-00948-2 [pii]
+AID - 10.1186/s11658-026-00948-2 [doi]
+PST - aheadofprint
+SO - Cell Mol Biol Lett. 2026 Jun 2. doi: 10.1186/s11658-026-00948-2.
+
+PMID- 42230310
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260605
+LR - 20260605
+IS - 1080-6059 (Electronic)
+IS - 1080-6040 (Print)
+IS - 1080-6040 (Linking)
+VI - 32
+IP - 6
+DP - 2026 Jun
+TI - Wickerhamomyces anomalus Fungemia during Healthcare-Associated Outbreak, Pereira,
+ Colombia, 2025.
+PG - 941-949
+LID - 10.3201/eid3206.251980 [doi]
+AB - During March-July 2025, ten cases of Wickerhamomyces anomalus bloodstream
+ infection were identified in Pereira, Colombia, mainly affecting pediatric
+ patients; 9 cases occurred in children (8 neonates and a 5-year-old girl) and 1
+ case was in an adult. Most neonates were preterm and had multiple underlying
+ conditions, such as congenital anomalies, respiratory complications, and adverse
+ perinatal conditions, often compounded by limited prenatal care and maternal
+ infections. All patients required intensive medical interventions, including
+ central and peripheral venous catheters, mechanical ventilation, parenteral
+ nutrition, and, in some cases, surgical procedures. Broad-spectrum antibacterial
+ therapy was widely used, and antifungal treatment, primarily caspofungin, was
+ initiated in half of cases. Antifungal susceptibility testing demonstrated low
+ MICs for all agents. Short tandem repeat genotyping of 6 isolates indicated
+ clonal transmission, supporting a healthcare-associated outbreak. Despite
+ prolonged hospitalizations and severe clinical conditions, all patients survived,
+ highlighting the importance of prompt diagnosis, strict infection control, and
+ appropriate antifungal management.
+FAU - Ordonez, Karen M
+AU - Ordonez KM
+FAU - Caceres, Diego H
+AU - Caceres DH
+FAU - Ceballos-Garzon, Andres
+AU - Ceballos-Garzon A
+FAU - Salazar-Giraldo, Natalia
+AU - Salazar-Giraldo N
+FAU - Spruijtenburg, Bram
+AU - Spruijtenburg B
+FAU - Velasquez-Orozco, Lina M
+AU - Velasquez-Orozco LM
+FAU - Meijer, Eelco F J
+AU - Meijer EFJ
+FAU - Vinazco, Gabriel
+AU - Vinazco G
+FAU - Francisco, Elaine Cristina
+AU - Francisco EC
+FAU - Oliveira, Rodrigo
+AU - Oliveira R
+FAU - Escandon, Patricia
+AU - Escandon P
+FAU - Meis, Jacques F
+AU - Meis JF
+LA - eng
+PT - Journal Article
+PL - United States
+TA - Emerg Infect Dis
+JT - Emerging infectious diseases
+JID - 9508155
+RN - 0 (Antifungal Agents)
+SB - IM
+MH - Humans
+MH - Colombia/epidemiology
+MH - Female
+MH - *Disease Outbreaks
+MH - Antifungal Agents/therapeutic use/pharmacology
+MH - *Saccharomycetales/genetics/isolation & purification/drug effects/classification
+MH - *Fungemia/epidemiology/microbiology/drug therapy
+MH - *Cross Infection/epidemiology/microbiology
+MH - Child, Preschool
+MH - Male
+MH - Infant, Newborn
+MH - Infant
+MH - Microbial Sensitivity Tests
+PMC - PMC13245246
+OTO - NOTNLM
+OT - Colombia
+OT - Wickerhamomyces anomalus
+OT - bloodstream infections
+OT - candidemia
+OT - fungi
+OT - outbreak
+EDAT- 2026/06/03 00:39
+MHDA- 2026/06/05 12:41
+PMCR- 2026/06/01
+CRDT- 2026/06/02 22:32
+PHST- 2026/06/05 12:41 [medline]
+PHST- 2026/06/03 00:39 [pubmed]
+PHST- 2026/06/02 22:32 [entrez]
+PHST- 2026/06/01 00:00 [pmc-release]
+AID - 25-1980 [pii]
+AID - 10.3201/eid3206.251980 [doi]
+PST - ppublish
+SO - Emerg Infect Dis. 2026 Jun;32(6):941-949. doi: 10.3201/eid3206.251980.
+
+PMID- 42227335
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260607
+LR - 20260609
+IS - 1362-4962 (Electronic)
+IS - 0305-1048 (Print)
+IS - 0305-1048 (Linking)
+VI - 54
+IP - 10
+DP - 2026 May 20
+TI - Muscleblind-like proteins dimerize by forming disulfide bonds to regulate
+ alternative splicing and pathogenic RNA foci formation.
+LID - 10.1093/nar/gkag538 [doi]
+LID - gkag538
+AB - Muscleblind-like (MBNL) RNA-binding proteins (RBPs) possess modular domains that
+ mediate regulation of alternative splicing and RNA localization. In Myotonic
+ Dystrophy Type 1, a CTG repeat expansion disorder, MBNL is sequestered into
+ intranuclear RNA foci, impairing its function. Previous studies found that MBNL
+ self-associates through its exon 7, but the nature of this interaction is not
+ well understood. We identified a cysteine in MBNL1 exon 7 that enables
+ dimerization through the formation of an intermolecular disulfide bond. We
+ likewise demonstrate that MBNL2 dimerizes by forming disulfide bonds between
+ multiple cysteines in its carboxy-terminus. Nucleocytoplasmic fractionation
+ revealed a greater proportion of MBNL1 dimer in the nucleus, suggesting a nuclear
+ function for the MBNL1 dimer. We investigated a connection between MBNL1
+ dimerization and MBNL1-mediated regulation of alternative splicing. To accomplish
+ this, we mutated the MBNL1 cysteine in question to alanine (C325A) and performed
+ RNAseq. We uncovered novel splicing events sensitive to MBNL1 dimerization. We
+ also found that MBNL1 C325A, when co-expressed with expanded CTG repeats,
+ produces smaller, more numerous foci, suggesting a role for the MBNL1 dimer in
+ maintaining foci integrity. These results provide insight into biological and
+ pathological mechanisms of MBNL1 dimerization and suggest that other RBPs might
+ similarly dimerize to regulate function.
+CI - (c) The Author(s) 2026. Published by Oxford University Press.
+FAU - Knudson, Luke A
+AU - Knudson LA
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Kosti, Adam
+AU - Kosti A
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Hildebrandt, Ryan P
+AU - Hildebrandt RP
+AD - Department of Molecular Genetics & Microbiology, Center for Neurogenetics,
+ Genetics Institute, University of Florida, Gainesville, FL 32610, United States.
+FAU - Jennings, Ethan
+AU - Jennings E
+AD - Department of Molecular Genetics & Microbiology, Center for Neurogenetics,
+ Genetics Institute, University of Florida, Gainesville, FL 32610, United States.
+FAU - Zhou, Eric X
+AU - Zhou EX
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Moss, Kathryn R
+AU - Moss KR
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Shi, Liang
+AU - Shi L
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Nguyen, GiaLinh N
+AU - Nguyen GN
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Janusz-Kaminska, Aleksandra
+AU - Janusz-Kaminska A
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+FAU - Wang, Eric T
+AU - Wang ET
+AD - Department of Molecular Genetics & Microbiology, Center for Neurogenetics,
+ Genetics Institute, University of Florida, Gainesville, FL 32610, United States.
+AD - Myology Institute, University of Florida, Gainesville, FL 32610, United States.
+FAU - Bassell, Gary J
+AU - Bassell GJ
+AUID- ORCID: 0000-0003-2622-0127
+AD - Department of Cell Biology, Emory University School of Medicine, Atlanta, GA
+ 30322, United States.
+LA - eng
+GR - F31 NS117086/NH/NIH HHS/United States
+GR - F32 MH135636/NH/NIH HHS/United States
+GR - R01 NS114253/NH/NIH HHS/United States
+GR - FRAXA Foundation fellowship/
+PT - Journal Article
+PL - England
+TA - Nucleic Acids Res
+JT - Nucleic acids research
+JID - 0411011
+RN - 0 (RNA-Binding Proteins)
+RN - 0 (MBNL1 protein, human)
+RN - 0 (Disulfides)
+RN - K848JZ4886 (Cysteine)
+RN - 0 (MBNL2 protein, human)
+RN - 63231-63-0 (RNA)
+SB - IM
+UOF - bioRxiv. 2026 Mar 26:2026.03.24.714019. doi: 10.64898/2026.03.24.714019. PMID:
+ 41929128
+MH - *RNA-Binding Proteins/genetics/metabolism/chemistry
+MH - *Alternative Splicing
+MH - Humans
+MH - Protein Multimerization
+MH - Disulfides/chemistry/metabolism
+MH - Cysteine/genetics/chemistry
+MH - Exons
+MH - RNA/metabolism/genetics
+MH - Cell Nucleus/metabolism/genetics
+MH - *Myotonic Dystrophy/genetics/metabolism
+PMC - PMC13227107
+COIS- None declared.
+EDAT- 2026/06/02 12:45
+MHDA- 2026/06/07 06:33
+PMCR- 2026/06/02
+CRDT- 2026/06/02 06:43
+PHST- 2025/03/10 00:00 [received]
+PHST- 2026/05/01 00:00 [revised]
+PHST- 2026/05/07 00:00 [accepted]
+PHST- 2026/06/07 06:33 [medline]
+PHST- 2026/06/02 12:45 [pubmed]
+PHST- 2026/06/02 06:43 [entrez]
+PHST- 2026/06/02 00:00 [pmc-release]
+AID - 8699742 [pii]
+AID - gkag538 [pii]
+AID - 10.1093/nar/gkag538 [doi]
+PST - ppublish
+SO - Nucleic Acids Res. 2026 May 20;54(10):gkag538. doi: 10.1093/nar/gkag538.
+
PMID- 42222887
OWN - NLM
STAT- MEDLINE
DCOM- 20260601
-LR - 20260601
+LR - 20260624
IS - 1558-8238 (Electronic)
+IS - 0021-9738 (Print)
IS - 0021-9738 (Linking)
VI - 136
IP - 11
DP - 2026 Jun 1
TI - Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for
amyotrophic lateral sclerosis diagnosis and progression.
-LID - e191508 [pii]
LID - 10.1172/JCI191508 [doi]
+LID - e191508
AB - The role of the epigenome in age-related neurodegenerative disorders remains
understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to
detect methylation changes as a liquid biopsy for Amyotrophic Lateral Sclerosis
@@ -102,6 +2778,7 @@ AD - UCI Center for Neurotherapeutics, University of California, Irvine, Irvine
California, USA.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20260601
PL - United States
TA - J Clin Invest
@@ -113,6 +2790,8 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
RN - 0 (Neurofilament Proteins)
SB - IM
+UOF - bioRxiv. 2026 Mar 23:2026.03.20.711195. doi: 10.64898/2026.03.20.711195. PMID:
+ 41928938
MH - Humans
MH - *Amyotrophic Lateral Sclerosis/genetics/diagnosis/blood
MH - *Cell-Free Nucleic Acids/genetics/blood/cerebrospinal fluid
@@ -127,20 +2806,24 @@ MH - Middle Aged
MH - Aged
MH - Neurofilament Proteins/cerebrospinal fluid
MH - Adult
+PMC - PMC13221225
OTO - NOTNLM
OT - Biomarkers
OT - Epigenetics
OT - Genetics
OT - Neurodegeneration
OT - Neuroscience
+COIS- The authors have declared that no conflicts of interest exist.
EDAT- 2026/06/01 12:38
MHDA- 2026/06/01 12:39
+PMCR- 2026/06/01
CRDT- 2026/06/01 06:19
PHST- 2025/01/22 00:00 [received]
PHST- 2026/03/24 00:00 [accepted]
PHST- 2026/06/01 12:39 [medline]
PHST- 2026/06/01 12:38 [pubmed]
PHST- 2026/06/01 06:19 [entrez]
+PHST- 2026/06/01 00:00 [pmc-release]
AID - 191508 [pii]
AID - 10.1172/JCI191508 [doi]
PST - epublish
@@ -150,7 +2833,7 @@ SO - J Clin Invest. 2026 Jun 1;136(11):e191508. doi: 10.1172/JCI191508. eCollec
PMID- 42210302
OWN - NLM
STAT- Publisher
-LR - 20260529
+LR - 20260602
IS - 1750-1326 (Electronic)
IS - 1750-1326 (Linking)
DP - 2026 May 28
@@ -235,6 +2918,8 @@ TA - Mol Neurodegener
JT - Molecular neurodegeneration
JID - 101266600
SB - IM
+UOF - bioRxiv. 2026 Jan 08:2026.01.07.698249. doi: 10.64898/2026.01.07.698249. PMID:
+ 41542456
OTO - NOTNLM
OT - CAG repeat expansion
OT - Huntington's disease
@@ -266,8 +2951,8 @@ SO - Mol Neurodegener. 2026 May 28. doi: 10.1186/s13024-026-00960-2.
PMID- 42185880
OWN - NLM
STAT- MEDLINE
-DCOM- 20260526
-LR - 20260528
+DCOM- 20260624
+LR - 20260624
IS - 1868-7083 (Electronic)
IS - 1868-7075 (Print)
IS - 1868-7075 (Linking)
@@ -356,24 +3041,20 @@ PL - Germany
TA - Clin Epigenetics
JT - Clinical epigenetics
JID - 101516977
-RN - 0 (Huntingtin Protein)
SB - IM
MH - Humans
MH - *Huntington Disease/genetics
MH - *DNA Methylation/genetics
+MH - Female
MH - Male
+MH - Cerebellum
+MH - *Corpus Striatum/metabolism
+MH - CpG Islands
MH - Middle Aged
-MH - Female
+MH - Entorhinal Cortex
MH - Adult
-MH - CpG Islands
-MH - *Corpus Striatum/metabolism
-MH - Aged
-MH - Huntingtin Protein/genetics
-MH - Entorhinal Cortex/metabolism
-MH - Case-Control Studies
-MH - Trinucleotide Repeat Expansion
MH - Epigenesis, Genetic
-MH - Cerebellum/metabolism
+MH - Trinucleotide Repeat Expansion
PMC - PMC13202909
OTO - NOTNLM
OT - Brain
@@ -409,8 +3090,8 @@ SO - Clin Epigenetics. 2026 May 26;18(1):92. doi: 10.1186/s13148-026-02082-4.
PMID- 42182465
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260525
-LR - 20260525
+DCOM- 20260615
+LR - 20260615
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 May 11
@@ -426,41 +3107,64 @@ AB - Structured RNAs cause human diseases but remain challenging to target sele
derived from known ligands, a Tversky similarity screen of >8 million compounds
yielded a 150-member library enriched in chemical space for RNA-active scaffolds.
Target engagement and cell-based assays identified multiple selective ligands for
- the pathogenic expanded triplet repeat, r(CUG)exp, that causes myotonic dystrophy
- type 1 (DM1) by binding and sequestering the RNA-binding protein muscleblind-like
- 1 (MBNL1). Biophysical and single-molecule analyses revealed that the small
- molecules bind the 1x1 nucleotide U/U internal loops formed when r(CUG)exp folds,
- partially block MBNL1 binding, and modulate RNA folding equilibria. Two optimized
- scaffolds rescued MBNL1-dependent splicing in patient-derived myotubes with
- micromolar potency and minimal cytotoxicity. This study establishes a
- generalizable, data-driven platform for discovering drug-like RNA-binding lead
- small molecules and demonstrates its application to the toxic repeat expansion
- RNA underlying DM1.
+ the pathogenic expanded triplet repeat, r(CUG)(exp), that causes myotonic
+ dystrophy type 1 (DM1) by binding and sequestering the RNA-binding protein
+ muscleblind-like 1 (MBNL1). Biophysical and single-molecule analyses revealed
+ that the small molecules bind the 1x1 nucleotide U/U internal loops formed when
+ r(CUG)(exp) folds, partially block MBNL1 binding, and modulate RNA folding
+ equilibria. Two optimized scaffolds rescued MBNL1-dependent splicing in
+ patient-derived myotubes with micromolar potency and minimal cytotoxicity. This
+ study establishes a generalizable, data-driven platform for discovering drug-like
+ RNA-binding lead small molecules and demonstrates its application to the toxic
+ repeat expansion RNA underlying DM1.
FAU - Taghavi, Amirhossein
AU - Taghavi A
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
FAU - Shan, Jingsong
AU - Shan J
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
+AD - Department of Chemistry, The Scripps Research Institute, 130 Scripps Way,
+ Jupiter, FL 33458, USA.
FAU - Yao, Xiyuan
AU - Yao X
+AD - Department of Chemistry, The Scripps Research Institute, 130 Scripps Way,
+ Jupiter, FL 33458, USA.
FAU - Zanon, Patrick R A
AU - Zanon PRA
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
FAU - Sung, Kisu
AU - Sung K
-FAU - Simba-Lahuas, Alvaro
-AU - Simba-Lahuas A
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
+FAU - Simba-Lahuasi, Alvaro
+AU - Simba-Lahuasi A
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
FAU - Gorlach, Sylwia
AU - Gorlach S
+AD - Depixus SAS, 3-5 Impasse Reille, 75014, Paris, France.
FAU - Labuhn, Henning
AU - Labuhn H
+AD - Depixus SAS, 3-5 Impasse Reille, 75014, Paris, France.
FAU - Salthouse, David
AU - Salthouse D
+AD - Depixus SAS, 3-5 Impasse Reille, 75014, Paris, France.
FAU - Wang, Zhen
AU - Wang Z
+AD - Depixus SAS, 3-5 Impasse Reille, 75014, Paris, France.
FAU - Feri, Adeline
AU - Feri A
-FAU - Disney, Matthew David
+AD - Depixus SAS, 3-5 Impasse Reille, 75014, Paris, France.
+FAU - Disney, Matthew D
AU - Disney MD
AUID- ORCID: 0000-0001-8486-1796
+AD - Department of Chemistry, The Herbert Wertheim UF Scripps Institute for Biomedical
+ Innovation & Technology, 130 Scripps Way, Jupiter, FL 33458, USA.
+AD - Department of Chemistry, The Scripps Research Institute, 130 Scripps Way,
+ Jupiter, FL 33458, USA.
LA - eng
PT - Journal Article
PT - Preprint
@@ -470,12 +3174,14 @@ TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
PMC - PMC13192654
+COIS- The authors declare the following competing financial interest(s): M.D.D. is a
+ founder of Ribonaut Therapeutics.
EDAT- 2026/05/25 12:34
MHDA- 2026/05/25 12:35
PMCR- 2026/05/21
CRDT- 2026/05/25 08:10
-PHST- 2026/05/25 12:35 [medline]
PHST- 2026/05/25 12:34 [pubmed]
+PHST- 2026/05/25 12:35 [medline]
PHST- 2026/05/25 08:10 [entrez]
PHST- 2026/05/21 00:00 [pmc-release]
AID - 2026.05.08.723748 [pii]
@@ -572,8 +3278,8 @@ SO - bioRxiv [Preprint]. 2026 May 12:2026.05.08.723329. doi:
PMID- 42168446
OWN - NLM
STAT- MEDLINE
-DCOM- 20260521
-LR - 20260524
+DCOM- 20260624
+LR - 20260624
IS - 1432-1459 (Electronic)
IS - 0340-5354 (Print)
IS - 0340-5354 (Linking)
@@ -665,23 +3371,26 @@ PL - Germany
TA - J Neurol
JT - Journal of neurology
JID - 0423161
+RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
MH - Brazil/epidemiology
-MH - Male
MH - Female
-MH - Middle Aged
+MH - Male
MH - *Spinocerebellar Ataxias/genetics/epidemiology/physiopathology
+MH - Middle Aged
+MH - Genetic Association Studies
MH - Adult
-MH - Aged
MH - Phenotype
-MH - Genetic Association Studies
-MH - Disease Progression
MH - Cohort Studies
+MH - Disease Progression
MH - Age of Onset
-MH - Adolescent
+MH - Aged
+MH - Trinucleotide Repeat Expansion/genetics
MH - Young Adult
MH - Genotype
+MH - Fibroblast Growth Factors
PMC - PMC13194261
OTO - NOTNLM
OT - Ataxia
@@ -889,8 +3598,9 @@ SO - Neurol Genet. 2026 May 14;12(3):e200382. doi: 10.1212/NXG.0000000000200382
PMID- 42157275
OWN - NLM
-STAT- In-Process
-LR - 20260522
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1750-1172 (Electronic)
IS - 1750-1172 (Linking)
VI - 21
@@ -1011,7 +3721,21 @@ PL - England
TA - Orphanet J Rare Dis
JT - Orphanet journal of rare diseases
JID - 101266602
+RN - 0 (PABPN1 protein, human)
+RN - 0 (Poly(A)-Binding Protein I)
SB - IM
+MH - Humans
+MH - *Muscular Dystrophy, Oculopharyngeal/genetics/pathology
+MH - Male
+MH - Female
+MH - Israel
+MH - Middle Aged
+MH - Retrospective Studies
+MH - Poly(A)-Binding Protein I/genetics
+MH - Adult
+MH - Genotype
+MH - Aged
+MH - Jews/genetics
PMC - PMC13188457
OTO - NOTNLM
OT - PABPN1
@@ -1027,12 +3751,12 @@ COIS- Declarations. Ethics approval and consent to participate: The SMC Institut
was required. Competing interests: The authors declare that they have no
competing interests.
EDAT- 2026/05/20 06:32
-MHDA- 2026/05/20 06:32
+MHDA- 2026/06/27 18:38
PMCR- 2026/05/19
CRDT- 2026/05/20 00:16
PHST- 2025/12/18 00:00 [received]
PHST- 2026/03/06 00:00 [accepted]
-PHST- 2026/05/20 06:32 [medline]
+PHST- 2026/06/27 18:38 [medline]
PHST- 2026/05/20 06:32 [pubmed]
PHST- 2026/05/20 00:16 [entrez]
PHST- 2026/05/19 00:00 [pmc-release]
@@ -1348,7 +4072,7 @@ PMID- 42105168
OWN - NLM
STAT- MEDLINE
DCOM- 20260509
-LR - 20260512
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -1428,12 +4152,12 @@ SB - IM
MH - Humans
MH - *Adrenoleukodystrophy/diagnostic imaging/genetics/pathology
MH - Male
-MH - Magnetic Resonance Imaging
MH - Middle Aged
-MH - *Cerebellum/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
MH - *Brain Stem/diagnostic imaging/pathology
+MH - *Cerebellum/diagnostic imaging/pathology
MH - ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
-MH - *Brain/diagnostic imaging
+MH - Brain/diagnostic imaging
PMC - PMC13157408
OTO - NOTNLM
OT - Adrenoleukodystrophy
@@ -1466,8 +4190,8 @@ SO - Cerebellum. 2026 May 9;25(3):77. doi: 10.1007/s12311-026-02018-x.
PMID- 42105155
OWN - NLM
STAT- MEDLINE
-DCOM- 20260509
-LR - 20260509
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Linking)
VI - 25
@@ -1554,24 +4278,26 @@ JT - Cerebellum (London, England)
JID - 101089443
RN - 0 (Amyloid beta-Peptides)
RN - 0 (tau Proteins)
-RN - 0 (Peptide Fragments)
RN - EC 3.1.3.16 (Protein Phosphatase 2)
RN - EC 3.1.3.16 (PPP2R2B protein, human)
+RN - 0 (Peptide Fragments)
RN - 0 (amyloid beta-protein (1-42))
+RN - 0 (amyloid beta-protein (1-40))
RN - 0 (Biomarkers)
RN - 0 (Nerve Tissue Proteins)
+RN - Spinocerebellar Ataxia 12
SB - IM
MH - Humans
MH - Male
+MH - *Spinocerebellar Ataxias/blood/genetics
MH - Female
MH - *Amyloid beta-Peptides/blood
+MH - tau Proteins/blood
MH - Cross-Sectional Studies
-MH - Middle Aged
+MH - Protein Phosphatase 2/genetics
MH - Adult
-MH - *Spinocerebellar Ataxias/blood/genetics
-MH - *tau Proteins/blood
+MH - Middle Aged
MH - *Peptide Fragments/blood
-MH - *Protein Phosphatase 2/genetics
MH - Mutation
MH - Biomarkers/blood
MH - Nerve Tissue Proteins
@@ -1601,6 +4327,130 @@ AID - 10.1007/s12311-026-02015-0 [doi]
PST - epublish
SO - Cerebellum. 2026 May 9;25(3):75. doi: 10.1007/s12311-026-02015-0.
+PMID- 42105044
+OWN - NLM
+STAT- MEDLINE
+DCOM- 20260509
+LR - 20260623
+IS - 1473-4230 (Electronic)
+IS - 1473-4222 (Linking)
+VI - 25
+IP - 3
+DP - 2026 May 9
+TI - Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White
+ Matter Changes without Cerebellar Atrophy.
+LID - 76 [pii]
+LID - 10.1007/s12311-026-02019-w [doi]
+AB - Spinal Cerebellar Ataxia Type 8 (SCA8) is a rare autosomal dominant
+ neurodegenerative disorder characterized by progressive cerebellar dysfunction.
+ It is caused by pathogenic expansions of a CTG/CAG trinucleotide repeat sequence
+ within the ATXN8OS/ATXN8 gene locus on chromosome 13q21. Although cerebellar
+ atrophy is widely recognized as a cardinal neuroimaging feature of SCA8, the
+ phenotypic spectrum remains incompletely characterized. This study identified two
+ cases of SCA8 through genetic analysis. Pedigree information was gathered and
+ analyzed for all available family members. A systematic literature review was
+ conducted to identify all published SCA8 cases with available neuroimaging data.
+ The distinctive clinical and radiological features of SCA8 were analyzed through
+ detailed case characterization integrated with a comprehensive review of existing
+ literature. We report two genetically confirmed SCA8 cases exhibiting a
+ previously undescribed neuroimaging phenotype. Case 1: A 36-year-old woman
+ presented with a one-year history of progressive gait ataxia. Brain MRI revealed
+ confluent, symmetric white matter signal abnormalities without cerebellar
+ atrophy. Repeat expansion analysis detected a pathogenic CTG/CAG expansion of
+ 9/77 in the ATXN8 gene. Case 2: A 64-year-old man (father of case 1) exhibited
+ significant gait abnormalities, cognitive impairment and dysarthria. Brain MRI
+ showed symmetric white matter lesions similar to case 1, with a CTG/CAG repeat
+ length of 17/73. Notably, our systematic review revealed no prior reports of SCA8
+ presenting with isolated, symmetric white matter abnormalities in the absence of
+ cerebellar atrophy. These findings delineate a novel neuroimaging phenotype of
+ SCA8, characterized by symmetric white matter alterations without cerebellar
+ volume loss. This atypical presentation expands the radiological spectrum of SCA8
+ and underscores the importance of considering repeat expansion disorders in the
+ differential diagnosis of leukoencephalopathies, even in the absence of classic
+ neurodegenerative imaging signatures.
+CI - (c) 2026. The Author(s), under exclusive licence to Springer Science+Business
+ Media, LLC, part of Springer Nature.
+FAU - Fang, Yongkang
+AU - Fang Y
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Lu, Yuanbing
+AU - Lu Y
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Zhu, Suiqiang
+AU - Zhu S
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+FAU - Chen, Weiwei
+AU - Chen W
+AD - Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+ chenweiwei_tjh@tjh.tjmu.edu.cn.
+FAU - Huang, Shanshan
+AU - Huang S
+AD - Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong
+ University of Science and Technology, Wuhan, Hubei, 430030, China.
+ shanahuang3@gmail.com.
+AD - Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong
+ University of Science and Technology, Wuhan, 430030, China.
+ shanahuang3@gmail.com.
+LA - eng
+GR - 82001272/National Natural Science Foundation of China/
+GR - 2025AFB499/Natural Science Foundation of Hubei Province/
+GR - 2024A24/Science Foundation of Tongji Hospital/
+PT - Case Reports
+PT - Journal Article
+DEP - 20260509
+PL - United States
+TA - Cerebellum
+JT - Cerebellum (London, England)
+JID - 101089443
+RN - Spinocerebellar ataxia 8
+SB - IM
+MH - Humans
+MH - Female
+MH - *White Matter/diagnostic imaging/pathology
+MH - Phenotype
+MH - Middle Aged
+MH - Adult
+MH - Male
+MH - *Cerebellum/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
+MH - Atrophy
+MH - Pedigree
+MH - *Spinocerebellar Ataxias/diagnostic imaging/genetics/pathology
+MH - *Spinocerebellar Degenerations/diagnostic imaging/genetics
+OTO - NOTNLM
+OT - Magnetic Resonance Imaging
+OT - Repeat Expansion Disorders
+OT - Spinal Cerebellar Ataxia Type 8
+OT - Symmetrical White Matter Changes
+COIS- Declarations. Ethics approval: Not applicable. Consent to participate and
+ publication: Written informed consent was obtained from all participants for
+ inclusion in the study and for publication of the case details, accompanying
+ brain MRI images and Genotyping results. Competing interests: The authors declare
+ no competing interests. Conflict of interest: The authors declare no conflicts of
+ interest.
+EDAT- 2026/05/10 05:17
+MHDA- 2026/05/10 05:18
+CRDT- 2026/05/09 11:06
+PHST- 2026/01/09 00:00 [received]
+PHST- 2026/04/28 00:00 [accepted]
+PHST- 2026/05/10 05:18 [medline]
+PHST- 2026/05/10 05:17 [pubmed]
+PHST- 2026/05/09 11:06 [entrez]
+AID - 10.1007/s12311-026-02019-w [pii]
+AID - 10.1007/s12311-026-02019-w [doi]
+PST - epublish
+SO - Cerebellum. 2026 May 9;25(3):76. doi: 10.1007/s12311-026-02019-w.
+
PMID- 42098162
OWN - NLM
STAT- Publisher
@@ -1695,8 +4545,8 @@ SO - Nat Commun. 2026 May 8. doi: 10.1038/s41467-026-72819-5.
PMID- 42096001
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260510
+DCOM- 20260623
+LR - 20260623
IS - 1473-4230 (Electronic)
IS - 1473-4222 (Print)
IS - 1473-4222 (Linking)
@@ -1776,22 +4626,22 @@ PL - United States
TA - Cerebellum
JT - Cerebellum (London, England)
JID - 101089443
-RN - 62031-54-3 (Fibroblast Growth Factors)
RN - 0 (fibroblast growth factor 14)
+RN - 62031-54-3 (Fibroblast Growth Factors)
SB - IM
MH - Humans
-MH - Male
MH - Female
-MH - Middle Aged
-MH - *Fibroblast Growth Factors/genetics
+MH - Male
MH - Poland/epidemiology
+MH - Middle Aged
MH - Adult
-MH - *Cerebellar Ataxia/genetics/diagnosis/epidemiology
-MH - Aged
-MH - Retrospective Studies
+MH - *Fibroblast Growth Factors/genetics
MH - *Trinucleotide Repeat Expansion/genetics
+MH - *Cerebellar Ataxia/genetics/diagnostic imaging
+MH - Retrospective Studies
+MH - Aged
MH - Age of Onset
-MH - Magnetic Resonance Imaging
+MH - Spinocerebellar Degenerations/genetics
PMC - PMC13152904
OTO - NOTNLM
OT - FGF14 expansion
@@ -2102,7 +4952,7 @@ PMID- 42070078
OWN - NLM
STAT- MEDLINE
DCOM- 20260503
-LR - 20260509
+LR - 20260623
IS - 1941-5923 (Electronic)
IS - 1941-5923 (Linking)
VI - 27
@@ -2163,13 +5013,14 @@ RN - 0 (Receptors, Androgen)
SB - IM
MH - Humans
MH - Male
-MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis
MH - Middle Aged
+MH - *Bulbo-Spinal Atrophy, X-Linked/genetics/diagnosis/complications
MH - *Receptors, Androgen/genetics
-MH - *Muscle Weakness/etiology/genetics
-MH - Electromyography
+MH - *Muscle Weakness/etiology
MH - Exons
-MH - *Trinucleotide Repeat Expansion
+MH - Electromyography
+MH - Disease Progression
+MH - Trinucleotide Repeats
PMC - PMC13151774
COIS- Conflict of interest: None declared
EDAT- 2026/05/03 06:37
@@ -2576,14 +5427,18 @@ SO - Brain Commun. 2026 Mar 16;8(2):fcag092. doi: 10.1093/braincomms/fcag092.
PMID- 42015293
OWN - NLM
-STAT- Publisher
-LR - 20260422
+STAT- MEDLINE
+DCOM- 20260610
+LR - 20260616
IS - 1752-1947 (Electronic)
IS - 1752-1947 (Linking)
+VI - 20
+IP - 1
DP - 2026 Apr 21
TI - Overflow urinary incontinence as an early manifestation of neuronal intranuclear
inclusion disease (NIID): a case report.
LID - 10.1186/s13256-026-06049-0 [doi]
+LID - 312
AB - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare
neurodegenerative disorder with highly heterogeneous clinical manifestations,
often leading to misdiagnosis. Urinary incontinence as the initial and
@@ -2622,13 +5477,29 @@ AD - Department of Neurology, The Quzhou Affiliated Hospital of Wenzhou Medical
University, Quzhou People's Hospital, Quzhou, Zhejiang, China.
qz.dtt001@wmu.edu.cn.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20260421
PL - England
TA - J Med Case Rep
JT - Journal of medical case reports
JID - 101293382
+RN - 0 (NOTCH2NLC protein, human)
+RN - 0 (Nerve Tissue Proteins)
+RN - 0 (Intercellular Signaling Peptides and Proteins)
+RN - Neuronal intranuclear inclusion disease
SB - IM
+MH - Humans
+MH - Male
+MH - *Neurodegenerative Diseases/complications/genetics/diagnosis/physiopathology
+MH - *Urinary Incontinence/etiology/physiopathology
+MH - Intranuclear Inclusion Bodies/pathology/genetics
+MH - Aged
+MH - Diffusion Magnetic Resonance Imaging
+MH - Magnetic Resonance Imaging
+MH - Nerve Tissue Proteins
+MH - Intercellular Signaling Peptides and Proteins
+PMC - PMC13235064
OTO - NOTNLM
OT - Case report
OT - Magnetic resonance imaging
@@ -2645,27 +5516,34 @@ COIS- Declarations. Ethics approval and consent to participate: Informed consent
Editor-in-Chief of this journal. Competing interests: The authors declare that
they have no conflict of interest.
EDAT- 2026/04/22 06:32
-MHDA- 2026/04/22 06:32
+MHDA- 2026/06/10 11:43
+PMCR- 2026/04/21
CRDT- 2026/04/22 00:29
PHST- 2026/01/06 00:00 [received]
PHST- 2026/02/24 00:00 [accepted]
-PHST- 2026/04/22 06:32 [medline]
+PHST- 2026/06/10 11:43 [medline]
PHST- 2026/04/22 06:32 [pubmed]
PHST- 2026/04/22 00:29 [entrez]
+PHST- 2026/04/21 00:00 [pmc-release]
AID - 10.1186/s13256-026-06049-0 [pii]
+AID - 6049 [pii]
AID - 10.1186/s13256-026-06049-0 [doi]
-PST - aheadofprint
-SO - J Med Case Rep. 2026 Apr 21. doi: 10.1186/s13256-026-06049-0.
+PST - epublish
+SO - J Med Case Rep. 2026 Apr 21;20(1):312. doi: 10.1186/s13256-026-06049-0.
PMID- 42009196
OWN - NLM
-STAT- Publisher
-LR - 20260513
+STAT- MEDLINE
+DCOM- 20260611
+LR - 20260611
IS - 2173-9188 (Electronic)
IS - 1130-1406 (Linking)
-DP - 2026 Apr 18
+VI - 43
+IP - 2
+DP - 2026 Apr-Jun
TI - First report of Sporothrix brasiliensis in a Southern Giant Petrel (Macronectes
giganteus): Implications for One Health.
+PG - 71-74
LID - S1130-1406(26)00012-4 [pii]
LID - 10.1016/j.riam.2026.03.001 [doi]
AB - BACKGROUND: Sporothrix brasiliensis is an emerging fungal pathogen whose
@@ -2741,7 +5619,16 @@ PL - Spain
TA - Rev Iberoam Micol
JT - Revista iberoamericana de micologia
JID - 9425531
+RN - 0 (Antifungal Agents)
+RN - Sporothrix brasiliensis
SB - IM
+MH - *Sporothrix/isolation & purification/drug effects/genetics
+MH - Animals
+MH - *Sporotrichosis/veterinary/microbiology/transmission
+MH - Brazil
+MH - *Bird Diseases/microbiology
+MH - Antifungal Agents/pharmacology
+MH - *Birds/microbiology
OTO - NOTNLM
OT - Emerging mycoses
OT - Enfermedad fungica zoonotica
@@ -2754,19 +5641,19 @@ OT - Sporothrix habitat
OT - Sporotrichosis
OT - Zoonotic fungal disease
EDAT- 2026/04/21 13:11
-MHDA- 2026/04/21 13:11
+MHDA- 2026/06/11 12:40
CRDT- 2026/04/20 19:13
PHST- 2026/01/31 00:00 [received]
PHST- 2026/02/25 00:00 [revised]
PHST- 2026/03/18 00:00 [accepted]
+PHST- 2026/06/11 12:40 [medline]
PHST- 2026/04/21 13:11 [pubmed]
-PHST- 2026/04/21 13:11 [medline]
PHST- 2026/04/20 19:13 [entrez]
AID - S1130-1406(26)00012-4 [pii]
AID - 10.1016/j.riam.2026.03.001 [doi]
-PST - aheadofprint
-SO - Rev Iberoam Micol. 2026 Apr 18:S1130-1406(26)00012-4. doi:
- 10.1016/j.riam.2026.03.001.
+PST - ppublish
+SO - Rev Iberoam Micol. 2026 Apr-Jun;43(2):71-74. doi: 10.1016/j.riam.2026.03.001.
+ Epub 2026 Apr 18.
PMID- 42005169
OWN - NLM
@@ -2866,118 +5753,11 @@ PST - epublish
SO - Cureus. 2026 Mar 19;18(3):e105488. doi: 10.7759/cureus.105488. eCollection 2026
Mar.
-PMID- 41996006
-OWN - NLM
-STAT- Publisher
-LR - 20260417
-IS - 1179-2000 (Electronic)
-IS - 1177-1062 (Linking)
-DP - 2026 Apr 17
-TI - Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy
- Type 1: Current Status and Future Directions.
-LID - 10.1007/s40291-026-00848-3 [doi]
-AB - Myotonic dystrophy type 1 is the most prevalent adult-onset muscular dystrophy
- and is characterized by progressive muscle weakness, myotonia, cardiac conduction
- defects, endocrine dysfunction, and central nervous system involvement. Myotonic
- dystrophy type 1 is caused by an unstable CTG repeat expansion in the 3'
- untranslated region of the DMPK gene, which produces toxic CUG-expanded
- transcripts that sequester RNA-binding proteins such as Muscleblind-like, induce
- widespread alternative splicing defects, and drive an RNA gain-of-function
- mechanism rather than simple DMPK haploinsufficiency. Despite major advances in
- understanding the molecular pathogenesis of myotonic dystrophy type 1, there is
- still no approved cure or disease-modifying therapy. This review summarizes the
- molecular basis of myotonic dystrophy type 1 and provides an in-depth overview of
- emerging therapeutic strategies that directly target the underlying pathogenic
- cascade at the DNA and RNA levels. Gene therapy-based approaches, including
- CRISPR-mediated genome editing, aim to reduce or eliminate the expanded CTG
- repeats or expanded DMPK allele and its toxic transcripts. In parallel, a broad
- spectrum of RNA-directed interventions is being developed, encompassing antisense
- oligonucleotides, antibody-penetrating and cell-penetrating peptide-conjugated
- antisense oligonucleotides to enhance skeletal and cardiac muscle delivery, small
- interfering RNAs, and microRNA-based tools such as antagomiRs. Additional
- strategies exploit engineered RNA-binding proteins and peptide decoys to disrupt
- toxic ribonuclear aggregates, polyadenylation signal-driven premature
- transcriptional termination to selectively silence mutant DMPK, and small
- molecules that modulate RNA metabolism, dissolve CUG RNA foci, or correct
- downstream mis-splicing. By integrating data from preclinical models and ongoing
- clinical trials, including recent advances with muscle‑targeted antisense
- oligonucleotide conjugates and gene therapy, this review outlines the current
- status, strengths, and limitations of these mechanism-based therapies for
- myotonic dystrophy type 1. The discussion highlights key translational challenges
- such as efficient delivery to skeletal muscle, the heart, and brain, long-term
- safety, and robust pharmacodynamic biomarkers as well as opportunities for
- combination and next-generation approaches aimed at converting molecular
- correction into durable clinical benefit for patients with myotonic dystrophy
- type 1.
-CI - (c) 2026. The Author(s), under exclusive licence to Springer Nature Switzerland AG.
-FAU - Chahine, Mohamed
-AU - Chahine M
-AUID- ORCID: 0000-0002-9500-2839
-AD - CERVO Brain Research Centre, 2601, chemin de la Canardiere, Quebec City, QC, G1J
- 2G3, Canada. Mohamed.Chahine@phc.ulaval.ca.
-AD - Department of Medicine, Faculty of Medicine, Universite Laval, Quebec City, QC,
- Canada. Mohamed.Chahine@phc.ulaval.ca.
-FAU - Ginjupalli, Vamsi Krishna Murthy
-AU - Ginjupalli VKM
-AD - Department of Medicine, Faculty of Medicine, Universite Laval, Quebec City, QC,
- Canada.
-AD - Cardiovascular Research Program, VA New York Harbor Health Care System, Brooklyn,
- NY, USA.
-FAU - Jauvin, Dominic
-AU - Jauvin D
-AD - CERVO Brain Research Centre, 2601, chemin de la Canardiere, Quebec City, QC, G1J
- 2G3, Canada.
-FAU - Boutjdir, Mohamed
-AU - Boutjdir M
-AD - Cardiovascular Research Program, VA New York Harbor Health Care System, Brooklyn,
- NY, USA.
-AD - Departments of Medicine, Cell Biology and Pharmacology, SUNY Downstate Health
- Sciences University, Brooklyn, NY, USA.
-AD - Department of Medicine, New York University Grossman School of Medicine, New
- York, NY, USA.
-LA - eng
-GR - USAMRAA W81XWH-21-1-0426/U.S. Department of Defense/
-GR - W81XWH-21-1-0424/U.S. Department of Defense/
-GR - 451090/Canadian Institute of Health Research/
-PT - Journal Article
-DEP - 20260417
-PL - New Zealand
-TA - Mol Diagn Ther
-JT - Molecular diagnosis & therapy
-JID - 101264260
-SB - IM
-COIS- Declarations. Funding: This work was supported by a US Department of Defense
- grant (USAMRAA W81XWH-21-1-0426) to Mohamed Chahine, a US Department of Defense
- award (W81XWH-21-1-0424) to Mohamed Boutjdir. This work was also supported by the
- Canadian Institutes of Health Research (451090). Competing interests: Mohamed
- Chahine, Vamsi Krishna Murthy Ginjupalli, Dominic Jauvin, and Mohamed Boutjdir
- have no conflicts of interest that are directly relevant to the content of this
- article. Ethics approval: Not applicable. Consent to participate: Not applicable.
- Consent for publication: Not applicable. Authors' contributions: MC
- conceptualized the study. MC and MB acquired the funding and managed the project.
- MC supervised the project. MC wrote the original draft. MC, DJ, VKMG, and MB
- reviewed and edited the manuscript draft. All authors read and approved the final
- version of the manuscript. Availability of data and material: Data sharing is not
- applicable to this article as no datasets were generated or analyzed during the
- current study. Code availability: Not applicable.
-EDAT- 2026/04/18 07:10
-MHDA- 2026/04/18 07:10
-CRDT- 2026/04/17 11:24
-PHST- 2025/08/19 00:00 [received]
-PHST- 2026/03/22 00:00 [accepted]
-PHST- 2026/04/18 07:10 [medline]
-PHST- 2026/04/18 07:10 [pubmed]
-PHST- 2026/04/17 11:24 [entrez]
-AID - 10.1007/s40291-026-00848-3 [pii]
-AID - 10.1007/s40291-026-00848-3 [doi]
-PST - aheadofprint
-SO - Mol Diagn Ther. 2026 Apr 17. doi: 10.1007/s40291-026-00848-3.
-
PMID- 41987036
OWN - NLM
STAT- MEDLINE
-DCOM- 20260527
-LR - 20260529
+DCOM- 20260622
+LR - 20260622
IS - 1528-3658 (Electronic)
IS - 1076-1551 (Print)
IS - 1076-1551 (Linking)
@@ -3130,138 +5910,161 @@ SO - Mol Med. 2026 Apr 15;32(1):81. doi: 10.1186/s10020-026-01465-w.
PMID- 41986956
OWN - NLM
-STAT- Publisher
-LR - 20260416
+STAT- PubMed-not-MEDLINE
+DCOM- 20260605
+LR - 20260605
IS - 2713-4148 (Electronic)
IS - 2713-4148 (Linking)
-DP - 2026 Apr 10
-TI - The High-Risk CCL14 Lineage Drives Severe Mycoplasma pneumoniae Pneumonia in
- Children: A Study in Central China.
+VI - 69
+IP - 6
+DP - 2026 Jun
+TI - High-Risk CCL14 lineage drives severe Mycoplasma pneumoniae pneumonia in
+ children: a study in central China.
+PG - 497-507
LID - 10.3345/cep.2025.02796 [doi]
-AB - BACKGROUND: The post-pandemic resurgence of Mycoplasma pneumoniae (MP)
- infections, particularly in China, underscores the need to understand the drivers
- of disease severity. However, the genotypic landscape of the prevalent strains in
- central China and its link to clinical outcomes remain poorly characterized.
- PURPOSE: This study aimed to evaluate the associations between predominant
- circulating strains of MP and disease severity. Method: We integrated the
- clinical data of 3,060 pediatric patients and analyzed the epidemiological
- characteristics of Mycoplasma pneumoniae pneumonia (MPP) in Henan region from
- 2020 to 2024. Bronchoalveolar lavage fluid (BALF) from 137 patients was analyzed
- using multilocus sequence typing (MLST) and variable-number tandem-repeat
- analysis (MLVA) to investigate the correlation between genotype and clinical
- outcomes. RESULTS: A significant post-COVID MPP outbreak was predicted in 2023.
- Genotyping revealed the cocirculation of 2 major genotypes: the prevalent ST3
- (57.7%, severe ratio [31.6%]) and the less common but highly virulent ST14
- (26.3%, severe ratio [72.2%]). Phylogenetic clustering confirmed ST14/3-5-6-2 as
- part of a broader hypervirulent lineage, common cluster label 14 (CCL14), which
- was significantly associated with disease severity (chi2=19.39; P<0.001). Patients
- infected with CCL14 strains exhibited a distinct hyperinflammatory profile marked
- by elevated D-dimer levels, complement C4 levels, and platelet count. The
- mutation ratio of macrolide resistance sites in the MP strains from Henan
- Province was approximately 75%. CONCLUSION: Our findings identified the CCL14
- lineage as a key driver of disease severity in macrolide-resistant pediatric MPP
- in Henan Province, China. This underscores the importance of integrating
- molecular surveillance with clinical monitoring to mitigate disease burden.
+AB - BACKGROUND: The post-coronavirus disease 2019 (COVID-19) pandemic resurgence of
+ Mycoplasma pneumoniae (MP) infections, particularly in China, underscores the
+ need to understand the drivers of disease severity. PURPOSE: This study aimed to
+ evaluate the association between predominantly circulating MP strains and disease
+ severity in Henan Province, central China. METHODS: We integrated the clinical
+ data of 3,060 pediatric patients and analyzed the epidemiological characteristics
+ of MP pneumonia (MPP) in the Henan region in 2020-2024. Bronchoalveolar lavage
+ fluid collected from 137 patients was analyzed using multilocus sequence typing
+ and multilocus variable number tandem-repeat analysis to investigate the
+ correlation between genotype and clinical outcome. RESULTS: A significant
+ post-COVID MPP outbreak was predicted in 2023. Genotyping revealed the
+ cocirculation of 2 major genotypes: the prevalent ST3 (57.7%, severe ratio
+ [31.6%]) and the less common but highly virulent ST14 (26.3%, severe ratio
+ [72.2%]). Phylogenetic clustering confirmed ST14/3-5-6-2 as part of a broader
+ hypervirulent lineage, common cluster label 14 (CCL14), which was significantly
+ associated with disease severity (chi2=19.39; P<0.001). Patients infected with
+ CCL14 strains exhibited a distinct hyperinflammatory profile marked by elevated
+ D-dimer levels, complement C4 levels, and platelet count. The mutation ratio of
+ macrolide resistance sites in the MP strains from Henan Province was
+ approximately 75%. CONCLUSION: Our findings identified the CCL14 lineage as a key
+ driver of disease severity in macrolide-resistant pediatric MPP in Henan
+ Province, China. This under scores the importance of integrating molecular
+ surveillance with clinical monitoring to mitigate disease burden.
FAU - Hao, Chunbo
AU - Hao C
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Li, Zijie
AU - Li Z
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Yu, Yanjuan
AU - Yu Y
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Wang, Song
AU - Wang S
AD - Department of Epidemiology, College of Public Health, Zhengzhou University,
- Zhengzhou, China, Zhengzhou, China.
+ Zhengzhou, China.
FAU - Wang, Genhao
AU - Wang G
AD - Department of Epidemiology, College of Public Health, Zhengzhou University,
- Zhengzhou, China, Zhengzhou, China.
+ Zhengzhou, China.
FAU - Jia, Gaijing
AU - Jia G
AD - Department of Epidemiology, College of Public Health, Zhengzhou University,
- Zhengzhou, China, Zhengzhou, China.
+ Zhengzhou, China.
FAU - Sun, Tiantian
AU - Sun T
AD - Department of Infection Control, Henan Provincial People's Hospital, Zhengzhou,
- China, Zhengzhou, China.
+ China.
FAU - Chen, Shouhang
AU - Chen S
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Wu, Yang
AU - Wu Y
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Tang, Yu
AU - Tang Y
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Wang, Fang
AU - Wang F
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
FAU - Duan, Guangcai
AU - Duan G
AD - Department of Epidemiology, College of Public Health, Zhengzhou University,
- Zhengzhou, China, Zhengzhou, China.
+ Zhengzhou, China.
FAU - Jin, Yuefei
AU - Jin Y
AD - Henan International Joint Laboratory of Children's Infectious Diseases,
Children's Hospital Affiliated to Zhengzhou University, Henan Children's
- Hospital, Zhengzhou Children's Hospital, Zhengzhou, China, Zhengzhou, China.
+ Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. jyf201907@zzu.edu.cn.
AD - Department of Epidemiology, College of Public Health, Zhengzhou University,
- Zhengzhou, China, Zhengzhou, China.
+ Zhengzhou, China. jyf201907@zzu.edu.cn.
AD - Key Laboratory of Infection and Immunity of Anhui Higher Education Institutes,
- Bengbu Medical University, Bengbu, China, Bengbu, China.
-AD - State Key Laboratory for Zoonotic Diseases, Wuhan, China, Wuhan, China.
-LA - eng
+ Bengbu Medical University, Bengbu, China. jyf201907@zzu.edu.cn.
+AD - State Key Laboratory for Zoonotic Diseases, Wuhan, China. jyf201907@zzu.edu.cn.
+LA - eng
+GR - 2024T170246/China Postdoctoral Science Foundation/
+GR - 2024M750815/China Postdoctoral Science Foundation/
+GR - 2023PY-OP-0202/Pingyuan Laboratory/
+GR - I&I-2024-R01/Open Project of Key Laboratory of Infection and Immunity of Anhui
+ Higher Education Institutes/
+GR - Open Project of State Key Laboratory for Zoonotic Diseases/
+GR - 25HASTIT055/Innovative Talents in Higher Education Institutions of Henan
+ Province/
+GR - 252300421122/Outstanding Youth Science Foundation of Henan Province/
PT - Journal Article
DEP - 20260410
PL - Korea (South)
TA - Clin Exp Pediatr
JT - Clinical and experimental pediatrics
JID - 101761234
+PMC - PMC13244062
OTO - NOTNLM
-OT - MLST
-OT - MLVA
+OT - Disease severity
+OT - Multilocus sequence typing
OT - Mycoplasma pneumoniae
-OT - Mycoplasma pneumoniae pneumonia
+OT - Pneumonia
+COIS- Conflicts of interest No potential conflict of interest relevant to this article
+ was reported.
EDAT- 2026/04/16 13:09
-MHDA- 2026/04/16 13:09
+MHDA- 2026/04/16 13:10
+PMCR- 2026/04/10
CRDT- 2026/04/16 00:16
PHST- 2025/11/25 00:00 [received]
PHST- 2026/02/10 00:00 [accepted]
-PHST- 2026/04/16 13:09 [medline]
+PHST- 2026/04/16 13:10 [medline]
PHST- 2026/04/16 13:09 [pubmed]
PHST- 2026/04/16 00:16 [entrez]
+PHST- 2026/04/10 00:00 [pmc-release]
AID - cep.2025.02796 [pii]
+AID - cep-2025-02796 [pii]
AID - 10.3345/cep.2025.02796 [doi]
-PST - aheadofprint
-SO - Clin Exp Pediatr. 2026 Apr 10. doi: 10.3345/cep.2025.02796.
+PST - ppublish
+SO - Clin Exp Pediatr. 2026 Jun;69(6):497-507. doi: 10.3345/cep.2025.02796. Epub 2026
+ Apr 10.
PMID- 41980997
OWN - NLM
-STAT- Publisher
-LR - 20260414
+STAT- MEDLINE
+DCOM- 20260613
+LR - 20260623
IS - 2052-4463 (Electronic)
IS - 2052-4463 (Linking)
+VI - 13
+IP - 1
DP - 2026 Apr 14
TI - A chromosome-scale nuclear genome and complete mitogenome of the bio-control
fungus Cordyceps cateniannulata.
LID - 10.1038/s41597-026-07231-1 [doi]
+LID - 871
AB - Cordyceps cateniannulata, a recently characterized entomopathogenic fungus, has
been employed in biological control, plant disease management, and growth
promotion. In this study, the complete genomic sequences of C. cateniannulata
@@ -3328,30 +6131,338 @@ TA - Sci Data
JT - Scientific data
JID - 101640192
SB - IM
+MH - *Cordyceps/genetics
+MH - *Genome, Fungal
+MH - *Genome, Mitochondrial
+MH - Datasets as Topic
+PMC - PMC13254215
COIS- Competing interests: The authors declare no competing interests.
EDAT- 2026/04/15 00:36
-MHDA- 2026/04/15 00:36
+MHDA- 2026/06/15 11:34
+PMCR- 2026/04/14
CRDT- 2026/04/14 23:18
PHST- 2025/10/03 00:00 [received]
PHST- 2026/04/07 00:00 [accepted]
-PHST- 2026/04/15 00:36 [medline]
+PHST- 2026/06/15 11:34 [medline]
PHST- 2026/04/15 00:36 [pubmed]
PHST- 2026/04/14 23:18 [entrez]
+PHST- 2026/04/14 00:00 [pmc-release]
AID - 10.1038/s41597-026-07231-1 [pii]
+AID - 7231 [pii]
AID - 10.1038/s41597-026-07231-1 [doi]
+PST - epublish
+SO - Sci Data. 2026 Apr 14;13(1):871. doi: 10.1038/s41597-026-07231-1.
+
+PMID- 41961547
+OWN - NLM
+STAT- Publisher
+LR - 20260610
+IS - 1533-3450 (Electronic)
+IS - 1046-6673 (Linking)
+DP - 2026 Apr 10
+TI - Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat
+ Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease
+ Diagnosis.
+LID - 10.1681/ASN.0000001103 [doi]
+AB - KEY POINTS: Single-molecule real-time sequencing with the PacMUC1 script resolved
+ exact MUC1 variable tandem repeat structure and full allelic variation. In 300
+ individuals, the protocol identified 215 distinct MUC1 tandem repeat alleles with
+ 80 repeat units and nine frameshift mutation types. Probe extension assay
+ identified 90% of families with frameshift mutations, detection of frameshifted
+ mucin-1 aided genetically unresolved cases. BACKGROUND: ADTKD- MUC1 is caused by
+ frameshift mutations in the MUC1 gene, producing a frameshifted neoprotein
+ (MUC1fs) toxic to kidney cells. The gene's variable number of tandem repeats
+ (VNTR), with approximately 80% guanine/cytosine content, has made it largely
+ inaccessible to standard short-read sequencing, leaving the reference sequence
+ and natural variation poorly defined and complicating mutation detection.
+ METHODS: Using single-molecule real-time (SMRT) sequencing, we characterized MUC1
+ VNTR in 300 individuals, including 279 from 143 families suspected of having
+ ADTKD- MUC1 , assessing VNTR length, repeat structure, and frameshift mutations.
+ Results were compared with the Clinical Laboratory Improvement
+ Amendments-approved probe-extension assay, detecting the prevalent 59dupC
+ mutation, and with MUC1fs immunohistochemistry, which detects the pathogenic
+ protein independent of the underlying genomic change. RESULTS: We identified 215
+ unique VNTR alleles composed of 80 distinct repeat units, 46 (58%) of which were
+ novel, and nine distinct frameshift mutations present on 52 mutated alleles.
+ Overall, MUC1 frameshift mutations were identified in 71 of 143 families (50%)
+ with suspected ADTKD- MUC1 , comprising 135 affected individuals (48%). The SMRT
+ assay outperformed the probe-extension assay by identifying frameshift mutations
+ in two families with previously inconclusive results and in eight additional
+ families whose mutations were undetectable by the probe-extension design. When
+ successful, SMRT assay showed 100% concordance with probe-extension assay at the
+ family level and 98% at the individual level, with discordance attributable to
+ allelic dropout inherent to both long-range PCR amplification and long-read
+ sequencing. Analysis of the mutational spectrum confirmed 59dupC as the most
+ prevalent mutation, affecting approximately 90% of families, while the other
+ eight mutation types occurred at most twice. CONCLUSIONS: The SMRT assay
+ outperformed the Clinical Laboratory Improvement Amendments-approved
+ probe-extension assay by detecting essentially all VNTR-associated frameshift
+ mutations. The probe-extension assay identified approximately 90% of affected
+ families. MUC1fs immunohistochemistry added diagnostic value in genetically
+ unresolved cases by detecting the pathogenic protein independent of the
+ underlying mutation.
+CI - Copyright (c) 2026 by the American Society of Nephrology.
+FAU - Vrbacka, Alena
+AU - Vrbacka A
+AUID- ORCID: 0000-0003-4640-1646
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Pristoupilova, Anna
+AU - Pristoupilova A
+AUID- ORCID: 0000-0003-0047-9405
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Kidd, Kendrah O
+AU - Kidd KO
+AUID- ORCID: 0000-0003-3771-0949
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Janousek, Vaclav
+AU - Janousek V
+AUID- ORCID: 0000-0002-6894-6826
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Radina, Martin
+AU - Radina M
+AUID- ORCID: 0009-0001-0027-8665
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Vylet'al, Petr
+AU - Vylet'al P
+AUID- ORCID: 0000-0002-9357-1237
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Bitar, Ibrahim
+AU - Bitar I
+AD - Department of Microbiology, Faculty of Medicine and University Hospital Pilsen,
+ Charles University, Pilsen, Czech Republic.
+AD - Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czech
+ Republic.
+FAU - Stranecky, Viktor
+AU - Stranecky V
+AUID- ORCID: 0000-0002-2599-6479
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Steiner-Mrazova, Lenka
+AU - Steiner-Mrazova L
+AUID- ORCID: 0000-0003-4347-7768
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Treslova, Helena
+AU - Treslova H
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Sovova, Jana
+AU - Sovova J
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Hodanova, Katerina
+AU - Hodanova K
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Hartmannova, Hana
+AU - Hartmannova H
+AUID- ORCID: 0000-0001-7787-832
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Musalkova, Dita
+AU - Musalkova D
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Svojsova, Klara
+AU - Svojsova K
+AUID- ORCID: 0009-0005-0927-7107
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Kmochova, Tereza
+AU - Kmochova T
+AUID- ORCID: 0009-0001-6677-7029
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Baresova, Veronika
+AU - Baresova V
+AUID- ORCID: 0000-0001-8989-6090
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+FAU - Bleyer, Heidi
+AU - Bleyer H
+AUID- ORCID: 0009-0000-4022-6416
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Taylor, Abby
+AU - Taylor A
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Martin, Lauren
+AU - Martin L
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Sanchez, Antonio
+AU - Sanchez A
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Rysava, Romana
+AU - Rysava R
+AUID- ORCID: 0000-0002-4162-128
+AD - Department of Nephrology, First Faculty of Medicine, Charles University in Prague
+ and General Teaching Hospital in Prague, Prague, Czech Republic.
+FAU - Lajtmanova, Innet
+AU - Lajtmanova I
+AUID- ORCID: 0009-0009-4163-3115
+AD - B. Braun Avitum, Bratislava, Slovakia.
+FAU - Rajnochova-Bloudickova, Silvie
+AU - Rajnochova-Bloudickova S
+AUID- ORCID: 0000-0003-0270-571
+AD - Department of Nephrology, Transplant Centre, Institute for Clinical and
+ Experimental Medicine, Prague, Czech Republic.
+FAU - Viklicky, Ondrej
+AU - Viklicky O
+AUID- ORCID: 0000-0003-1049-2195
+AD - Department of Nephrology, Transplant Centre, Institute for Clinical and
+ Experimental Medicine, Prague, Czech Republic.
+FAU - Papagregoriou, Gregory
+AU - Papagregoriou G
+AUID- ORCID: 0000-0002-2440-9789
+AD - Molecular Medicine Research Center, Biobank.cy Center of Excellence in Biobanking
+ and Biomedical Research, University of Cyprus, Nicosia, Cyprus.
+FAU - Deltas, Constantinos
+AU - Deltas C
+AUID- ORCID: 0000-0001-5549-9169
+AD - Molecular Medicine Research Center, Biobank.cy Center of Excellence in Biobanking
+ and Biomedical Research, University of Cyprus, Nicosia, Cyprus.
+AD - Medical School, University of Cyprus, Nicosia, Cyprus.
+FAU - Stavrou, Christoforos
+AU - Stavrou C
+AUID- ORCID: 0009-0004-8202-0933
+AD - Evangelismos Private Hospital, Pafos, Cyprus.
+FAU - Jorge, Sofia
+AU - Jorge S
+AUID- ORCID: 0000-0002-3224-9156
+AD - Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN,
+ EPE, Lisbon, Portugal.
+FAU - Lopes, Jose Antonio
+AU - Lopes JA
+AD - Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN,
+ EPE, Lisbon, Portugal.
+FAU - Rodrigues, Marcia
+AU - Rodrigues M
+AUID- ORCID: 0000-0001-6174-2524
+AD - Department of Medical Genetics, Hospital de Santa Maria, ULSSM, Lisbon, Portugal.
+FAU - Elhassan, Elhussein
+AU - Elhassan E
+AD - Department of Nephrology Beaumont Hospital Dublin Ireland.
+FAU - Clince, Michelle
+AU - Clince M
+AUID- ORCID: 0009-0005-6307-1716
+AD - Department of Nephrology Beaumont Hospital Dublin Ireland.
+FAU - Rowan, Colm
+AU - Rowan C
+AUID- ORCID: 0000-0002-1660-1244
+AD - Department of Nephrology Beaumont Hospital Dublin Ireland.
+FAU - Conlon, Peter
+AU - Conlon P
+AUID- ORCID: 0000-0001-6772-9531
+AD - Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN,
+ EPE, Lisbon, Portugal.
+AD - Department of Medicine, Royal College of Surgeons, Dublin, Ireland.
+FAU - Teltsh, Omri
+AU - Teltsh O
+AD - School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin,
+ Ireland.
+FAU - Cavalleri, Gianpiero L
+AU - Cavalleri GL
+AD - Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN,
+ EPE, Lisbon, Portugal.
+FAU - Blumenstiel, Brendan
+AU - Blumenstiel B
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
+FAU - Toledo, Diana
+AU - Toledo D
+AUID- ORCID: 0000-0002-7501-8286
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
+FAU - DiStefano, Marina
+AU - DiStefano M
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
+FAU - DeFelice, Matthew
+AU - DeFelice M
+AUID- ORCID: 0009-0007-2481-8842
+AD - Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts.
+FAU - Zivna, Martina
+AU - Zivna M
+AUID- ORCID: 0000-0003-1968-824
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Bleyer, Anthony J Sr
+AU - Bleyer AJ Sr
+AUID- ORCID: 0000-0002-2804-5273
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+FAU - Kmoch, Stanislav
+AU - Kmoch S
+AUID- ORCID: 0000-0002-6239-707
+AD - Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic
+ Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
+AD - Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem,
+ North Carolina.
+LA - eng
+GR - LUAUS24087/Ministry of Education, Youth and Sports of the Czech Republic/
+GR - MULTIOMICS_CZ (Programme Johannes Amos Comenius, Ministry of Education, Youth and
+ Sports of the Czech Republic,//ID Project CZ.02.01.01/00/23_020/0008540) -
+ Co-funded by the European Union/Ministry of Education, Youth and Sports of the
+ Czech Republic/
+GR - The National Center for Medical Genomics (LM2023067)/Ministry of Education, Youth
+ and Sports of the Czech Republic/
+PT - Journal Article
+DEP - 20260410
+PL - United States
+TA - J Am Soc Nephrol
+JT - Journal of the American Society of Nephrology : JASN
+JID - 9013836
+SB - IM
+UOF - bioRxiv. 2025 Sep 16:2025.09.06.673538. doi: 10.1101/2025.09.06.673538. PMID:
+ 41000883
+OTO - NOTNLM
+OT - CKD
+OT - endoplasmic reticulum
+OT - familial nephropathy
+OT - genetic kidney disease
+OT - kidney disease
+OT - molecular genetics
+OT - polymorphisms
+OT - tubulointerstitial disease
+EDAT- 2026/04/10 18:33
+MHDA- 2026/04/10 18:33
+CRDT- 2026/04/10 12:03
+PHST- 2025/08/27 00:00 [received]
+PHST- 2026/04/06 00:00 [accepted]
+PHST- 2026/04/10 18:33 [pubmed]
+PHST- 2026/04/10 18:33 [medline]
+PHST- 2026/04/10 12:03 [entrez]
+AID - 00001751-990000000-00988 [pii]
+AID - 10.1681/ASN.0000001103 [doi]
PST - aheadofprint
-SO - Sci Data. 2026 Apr 14. doi: 10.1038/s41597-026-07231-1.
+SO - J Am Soc Nephrol. 2026 Apr 10. doi: 10.1681/ASN.0000001103.
PMID- 41957010
OWN - NLM
-STAT- Publisher
-LR - 20260409
+STAT- PubMed-not-MEDLINE
+DCOM- 20260607
+LR - 20260607
IS - 2056-7944 (Electronic)
IS - 2056-7944 (Linking)
+VI - 11
+IP - 1
DP - 2026 Apr 9
TI - Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale
study of rare variants and repeat expansions.
LID - 10.1038/s41525-026-00567-y [doi]
+LID - 33
AB - Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes.
In clinical practice, however, non-genetic causes are rare. The most common
genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease
@@ -3484,18 +6595,6 @@ AD - Unit of Neurodegenerative Diseases, Department of Neurology, University Ho
Germans Trias i Pujol Badalona, Barcelona, Spain. pastorpau@gmail.com.
CN - Spanish Study Group for Genetics of Chorea members
LA - eng
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
-GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
- Services/
GR - ZO1 AG000535/National Institutes of Health, Department of Health and Human
Services/
PT - Journal Article
@@ -3504,32 +6603,41 @@ PL - England
TA - NPJ Genom Med
JT - NPJ genomic medicine
JID - 101685193
+PMC - PMC13243629
COIS- Competing interests: The authors declare no competing interests by P.P. received
honoraria from Lilly. The remaining authors declare no competing interests.
FIR - Pastor, Pau
IR - Pastor P
EDAT- 2026/04/10 00:33
-MHDA- 2026/04/10 00:33
+MHDA- 2026/04/10 00:34
+PMCR- 2026/04/09
CRDT- 2026/04/09 23:16
PHST- 2025/07/01 00:00 [received]
PHST- 2026/03/19 00:00 [accepted]
-PHST- 2026/04/10 00:33 [medline]
+PHST- 2026/04/10 00:34 [medline]
PHST- 2026/04/10 00:33 [pubmed]
PHST- 2026/04/09 23:16 [entrez]
+PHST- 2026/04/09 00:00 [pmc-release]
AID - 10.1038/s41525-026-00567-y [pii]
+AID - 567 [pii]
AID - 10.1038/s41525-026-00567-y [doi]
-PST - aheadofprint
-SO - NPJ Genom Med. 2026 Apr 9. doi: 10.1038/s41525-026-00567-y.
+PST - epublish
+SO - NPJ Genom Med. 2026 Apr 9;11(1):33. doi: 10.1038/s41525-026-00567-y.
PMID- 41944554
OWN - NLM
-STAT- Publisher
-LR - 20260416
+STAT- MEDLINE
+DCOM- 20260610
+LR - 20260610
IS - 1096-9896 (Electronic)
+IS - 0022-3417 (Print)
IS - 0022-3417 (Linking)
-DP - 2026 Apr 7
+VI - 269
+IP - 3
+DP - 2026 Jul
TI - Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and
association with TCF4 CTG18.1 expansion(dagger).
+PG - 262-264
LID - 10.1002/path.70057 [doi]
AB - Late-onset Fuchs endothelial corneal dystrophy (FECD) is commonly framed as a
corneal endothelial disease characterised by guttae accumulation and progressive
@@ -3581,7 +6689,17 @@ PL - England
TA - J Pathol
JT - The Journal of pathology
JID - 0204634
+RN - 0 (Transcription Factor 4)
+RN - 0 (TCF4 protein, human)
SB - IM
+MH - Humans
+MH - *Fuchs' Endothelial Dystrophy/genetics/pathology
+MH - *Descemet Membrane/pathology
+MH - Phenotype
+MH - *Transcription Factor 4/genetics
+MH - *Trinucleotide Repeat Expansion
+MH - Genetic Predisposition to Disease
+PMC - PMC13238289
OTO - NOTNLM
OT - CTG18.1 trinucleotide repeat expansion
OT - Descemet's membrane
@@ -3590,22 +6708,25 @@ OT - corneal endothelium
OT - heterogeneity
OT - pathology
EDAT- 2026/04/07 12:33
-MHDA- 2026/04/07 12:33
+MHDA- 2026/06/11 05:39
+PMCR- 2026/06/05
CRDT- 2026/04/07 08:33
PHST- 2026/02/21 00:00 [received]
PHST- 2026/02/26 00:00 [accepted]
+PHST- 2026/06/11 05:39 [medline]
PHST- 2026/04/07 12:33 [pubmed]
-PHST- 2026/04/07 12:33 [medline]
PHST- 2026/04/07 08:33 [entrez]
+PHST- 2026/06/05 00:00 [pmc-release]
+AID - PATH70057 [pii]
AID - 10.1002/path.70057 [doi]
-PST - aheadofprint
-SO - J Pathol. 2026 Apr 7. doi: 10.1002/path.70057.
+PST - ppublish
+SO - J Pathol. 2026 Jul;269(3):262-264. doi: 10.1002/path.70057. Epub 2026 Apr 7.
PMID- 41929501
OWN - NLM
STAT- MEDLINE
-DCOM- 20260403
-LR - 20260403
+DCOM- 20260621
+LR - 20260621
IS - 1664-3224 (Electronic)
IS - 1664-3224 (Linking)
VI - 17
@@ -3681,11 +6802,12 @@ SB - IM
MH - Humans
MH - Female
MH - Middle Aged
-MH - *Vomiting/drug therapy/etiology/diagnosis
-MH - *Nausea/drug therapy/etiology/diagnosis
MH - *Adrenal Cortex Hormones/therapeutic use
-MH - Intranuclear Inclusion Bodies/pathology
-MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications/genetics
+MH - *Nausea/drug therapy/etiology/diagnosis
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - *Neurodegenerative Diseases/drug therapy/diagnosis/complications
+MH - *Vomiting/drug therapy/etiology/diagnosis
+MH - Treatment Outcome
PMC - PMC13039027
OTO - NOTNLM
OT - NIID
@@ -3716,8 +6838,8 @@ SO - Front Immunol. 2026 Mar 18;17:1782547. doi: 10.3389/fimmu.2026.1782547.
PMID- 41929128
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260423
-LR - 20260423
+DCOM- 20260609
+LR - 20260609
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 Mar 26
@@ -3799,6 +6921,8 @@ PL - United States
TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
+UIN - Nucleic Acids Res. 2026 May 20;54(10):gkag538. doi: 10.1093/nar/gkag538. PMID:
+ 42227335
PMC - PMC13041988
COIS- CONFLICT OF INTEREST The authors declare no competing interests.
EDAT- 2026/04/03 06:30
@@ -3818,8 +6942,8 @@ SO - bioRxiv [Preprint]. 2026 Mar 26:2026.03.24.714019. doi:
PMID- 41928938
OWN - NLM
STAT- PubMed-not-MEDLINE
-DCOM- 20260415
-LR - 20260415
+DCOM- 20260609
+LR - 20260614
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2026 Mar 23
@@ -3933,6 +7057,8 @@ PL - United States
TA - bioRxiv
JT - bioRxiv : the preprint server for biology
JID - 101680187
+UIN - J Clin Invest. 2026 Jun 01;136(11):e191508. doi: 10.1172/JCI191508. PMID:
+ 42222887
PMC - PMC13041952
COIS- Competing interests The authors declare that no conflicts of interest exist.
EDAT- 2026/04/03 06:31
@@ -4082,8 +7208,8 @@ SO - Microbiol Spectr. 2026 Mar 31;14(5):e0411525. doi: 10.1128/spectrum.04115-
PMID- 41906693
OWN - NLM
STAT- MEDLINE
-DCOM- 20260330
-LR - 20260401
+DCOM- 20260621
+LR - 20260621
IS - 1471-4159 (Electronic)
IS - 0022-3042 (Print)
IS - 0022-3042 (Linking)
@@ -4215,33 +7341,31 @@ TA - J Neurochem
JT - Journal of neurochemistry
JID - 2985190R
RN - 0 (NLR Family, Pyrin Domain-Containing 3 Protein)
+RN - 0 (Inflammasomes)
+RN - 0 (Sulfonamides)
+RN - 0 (Furans)
+RN - 0 (Nlrp3 protein, mouse)
RN - 6RS86E2BWQ
(N-(1,2,3,5,6,7-hexahydro-S-indacen-4-ylcarbamoyl)-4-(2-hydroxy-2-propanyl)-2-furansulfonamide)
RN - 0 (Indenes)
-RN - 0 (Inflammasomes)
RN - 0 (Sulfones)
-RN - 0 (Nlrp3 protein, mouse)
-RN - 0 (Sulfonamides)
-RN - 0 (Furans)
-RN - 0 (Cyclopropanes)
+RN - 0 (Heterocyclic Compounds, 4 or More Rings)
SB - IM
MH - Animals
MH - *NLR Family, Pyrin Domain-Containing 3 Protein/antagonists &
inhibitors/metabolism
-MH - *Huntington Disease/drug therapy/metabolism/genetics
+MH - *Huntington Disease/drug therapy/metabolism
MH - Mice
-MH - Indenes/pharmacology
MH - *Inflammasomes/antagonists & inhibitors/metabolism
-MH - *Gastrointestinal Microbiome/drug effects
-MH - *Sulfones/pharmacology
+MH - *Sulfonamides/pharmacology/therapeutic use
+MH - *Furans/pharmacology
+MH - *Gastrointestinal Microbiome/drug effects/physiology
MH - Male
+MH - *Indenes/pharmacology
MH - Mice, Transgenic
-MH - Sulfonamides/pharmacology
-MH - *Furans/pharmacology
-MH - Cyclopropanes
+MH - *Sulfones/pharmacology/therapeutic use
+MH - *Heterocyclic Compounds, 4 or More Rings/pharmacology
MH - Disease Models, Animal
-MH - Mice, Inbred C57BL
-MH - Female
PMC - PMC13033966
OTO - NOTNLM
OT - Huntington's disease
@@ -4456,7 +7580,7 @@ PMID- 41884597
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260326
-LR - 20260326
+LR - 20260608
IS - 2632-1297 (Electronic)
IS - 2632-1297 (Linking)
VI - 8
@@ -4619,6 +7743,8 @@ PL - England
TA - Brain Commun
JT - Brain communications
JID - 101755125
+EIN - Brain Commun. 2026 Jun 05;8(3):fcag208. doi: 10.1093/braincomms/fcag208. PMID:
+ 42255926
PMC - PMC13010074
OTO - NOTNLM
OT - C9orf72
@@ -4893,13 +8019,17 @@ SO - Epilepsia. 2026 Mar 24. doi: 10.1002/epi.70213.
PMID- 41850906
OWN - NLM
-STAT- Publisher
-LR - 20260318
+STAT- MEDLINE
+DCOM- 20260626
+LR - 20260626
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Linking)
-DP - 2026 Mar 18
+VI - 41
+IP - 6
+DP - 2026 Jun
TI - RNA Toxicity and Interacting RNA-Binding Protein NOVA2 of (UUUCA)exp RNA Foci in
Familial Cortical Myoclonic Tremor with Epilepsy.
+PG - 1479-1491
LID - 10.1002/mds.70270 [doi]
AB - BACKGROUND: Familial cortical myoclonic tremor with epilepsy (FCMTE) is an
autosomal dominant neurological disease characterized by cortical myoclonic
@@ -4982,7 +8112,20 @@ PL - United States
TA - Mov Disord
JT - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
+RN - 0 (RNA-Binding Proteins)
+RN - 0 (Neuro-Oncological Ventral Antigen)
+RN - 0 (Nerve Tissue Proteins)
+RN - 63231-63-0 (RNA)
+RN - 0 (SAMD12 protein, human)
SB - IM
+MH - Humans
+MH - *RNA-Binding Proteins/genetics/metabolism
+MH - Neuro-Oncological Ventral Antigen
+MH - *Epilepsies, Myoclonic/genetics/metabolism
+MH - *Nerve Tissue Proteins/genetics/metabolism
+MH - Neurons/metabolism
+MH - Induced Pluripotent Stem Cells/metabolism
+MH - *RNA/metabolism/genetics
OTO - NOTNLM
OT - NOVA2
OT - RNA foci
@@ -4990,23 +8133,23 @@ OT - alternative splicing
OT - familial cortical myoclonic tremor with epilepsy
OT - iPSC-neurons
EDAT- 2026/03/19 01:32
-MHDA- 2026/03/19 01:32
+MHDA- 2026/06/27 00:49
CRDT- 2026/03/18 22:52
PHST- 2026/02/16 00:00 [revised]
PHST- 2025/10/29 00:00 [received]
PHST- 2026/02/23 00:00 [accepted]
-PHST- 2026/03/19 01:32 [medline]
+PHST- 2026/06/27 00:49 [medline]
PHST- 2026/03/19 01:32 [pubmed]
PHST- 2026/03/18 22:52 [entrez]
AID - 10.1002/mds.70270 [doi]
-PST - aheadofprint
-SO - Mov Disord. 2026 Mar 18. doi: 10.1002/mds.70270.
+PST - ppublish
+SO - Mov Disord. 2026 Jun;41(6):1479-1491. doi: 10.1002/mds.70270. Epub 2026 Mar 18.
PMID- 41838909
OWN - NLM
STAT- MEDLINE
-DCOM- 20260316
-LR - 20260326
+DCOM- 20260620
+LR - 20260620
IS - 1091-6490 (Electronic)
IS - 0027-8424 (Print)
IS - 0027-8424 (Linking)
@@ -5150,17 +8293,21 @@ JT - Proceedings of the National Academy of Sciences of the United States of Am
JID - 7505876
RN - 0 (Huntingtin Protein)
RN - 0 (HTT protein, human)
+RN - 0 (HAP40 protein, human)
RN - 0 (Peptides)
+RN - 0 (Macrocyclic Compounds)
+RN - 0 (Nuclear Proteins)
SB - IM
UOF - bioRxiv. 2025 Aug 06:2025.08.06.668955. doi: 10.1101/2025.08.06.668955. PMID:
41030958
MH - *Huntingtin Protein/metabolism/chemistry/genetics
MH - Humans
-MH - Huntington Disease/genetics/metabolism
-MH - Cryoelectron Microscopy
MH - *Peptides/chemistry/metabolism
+MH - Huntington Disease/genetics/metabolism
MH - Protein Binding
+MH - *Macrocyclic Compounds/chemistry
MH - Animals
+MH - Nuclear Proteins
PMC - PMC13012115
OTO - NOTNLM
OT - HAP40
@@ -5185,8 +8332,8 @@ SO - Proc Natl Acad Sci U S A. 2026 Mar 24;123(12):e2520462123. doi:
PMID- 41833943
OWN - NLM
STAT- MEDLINE
-DCOM- 20260503
-LR - 20260506
+DCOM- 20260620
+LR - 20260620
IS - 2041-1723 (Electronic)
IS - 2041-1723 (Linking)
VI - 17
@@ -5304,16 +8451,18 @@ JT - Nature communications
JID - 101528555
RN - 1CC1JFE158 (Dactinomycin)
RN - EC 2.7.7.- (RNA Polymerase II)
+RN - 0 (Antineoplastic Agents)
RN - 0 (Antibiotics, Antineoplastic)
SB - IM
MH - *Dactinomycin/pharmacology
-MH - Humans
MH - *Transcription, Genetic/drug effects
+MH - Humans
MH - RNA Polymerase II/metabolism/genetics/chemistry
MH - *Microsatellite Repeats/genetics/drug effects
+MH - *Antineoplastic Agents/pharmacology
MH - Saccharomyces cerevisiae/genetics/drug effects/metabolism
-MH - Animals
MH - *Antibiotics, Antineoplastic/pharmacology
+MH - Animals
PMC - PMC13136328
COIS- Competing interests: The authors declare no competing interests.
EDAT- 2026/03/16 06:31
@@ -5416,8 +8565,8 @@ SO - Mediterr J Hematol Infect Dis. 2026 Mar 1;18(1):e2026028. doi:
PMID- 41820575
OWN - NLM
STAT- MEDLINE
-DCOM- 20260415
-LR - 20260418
+DCOM- 20260620
+LR - 20260620
IS - 1546-1718 (Electronic)
IS - 1061-4036 (Print)
IS - 1061-4036 (Linking)
@@ -6061,21 +9210,18 @@ RN - 0 (Ubiquitin)
RN - 0 (Membrane Proteins)
SB - IM
MH - Humans
-MH - *Frontotemporal Lobar Degeneration/genetics/pathology
+MH - *Frontotemporal Lobar Degeneration/genetics/pathology/metabolism
+MH - Genome-Wide Association Study
+MH - Polymorphism, Single Nucleotide/genetics
MH - *Genetic Predisposition to Disease
MH - Risk Factors
-MH - Genome-Wide Association Study
+MH - Haplotypes
MH - *Ubiquitin/metabolism/genetics
-MH - Male
-MH - Polymorphism, Single Nucleotide
-MH - Female
MH - *Membrane Proteins/genetics
-MH - *Inclusion Bodies/metabolism/pathology/genetics
MH - *DNA Repeat Expansion/genetics
-MH - Middle Aged
-MH - Haplotypes
+MH - Female
+MH - Male
MH - Case-Control Studies
-MH - Aged
PMC - PMC13083237
COIS- Competing interests: W.D.C. has received free consumables and travel
reimbursement from Oxford Nanopore Technologies. W.D.C. and R.R. are inventors on
@@ -6129,8 +9275,8 @@ SO - Nat Genet. 2026 Apr;58(4):726-736. doi: 10.1038/s41588-026-02537-7. Epub 2
PMID- 41812787
OWN - NLM
STAT- MEDLINE
-DCOM- 20260507
-LR - 20260507
+DCOM- 20260619
+LR - 20260619
IS - 1873-3492 (Electronic)
IS - 0009-8981 (Linking)
VI - 587
@@ -6193,17 +9339,16 @@ PL - Netherlands
TA - Clin Chim Acta
JT - Clinica chimica acta; international journal of clinical chemistry
JID - 1302422
-RN - 0 (GPIHBP1 protein, human)
RN - 0 (Receptors, Lipoprotein)
+RN - 0 (GPIHBP1 protein, human)
SB - IM
MH - Humans
-MH - *Receptors, Lipoprotein/genetics
-MH - *Hyperlipoproteinemia Type I/genetics
MH - *Exons/genetics
+MH - *Receptors, Lipoprotein/genetics
MH - *Sequence Deletion
-MH - Male
+MH - *Hyperlipoproteinemia Type I/genetics
MH - *Sequence Analysis, DNA
-MH - Female
+MH - *Repetitive Sequences, Nucleic Acid/genetics
COIS- Declaration of competing interest The authors declare that they have no known
competing financial interests or personal relationships that could have appeared
to influence the work reported in this paper. Funding Written consent was
@@ -6229,8 +9374,8 @@ SO - Clin Chim Acta. 2026 May 15;587:120965. doi: 10.1016/j.cca.2026.120965. Ep
PMID- 41806827
OWN - NLM
STAT- MEDLINE
-DCOM- 20260513
-LR - 20260516
+DCOM- 20260619
+LR - 20260619
IS - 2666-979X (Electronic)
IS - 2666-979X (Linking)
VI - 6
@@ -6329,16 +9474,16 @@ SB - IM
UOF - medRxiv. 2025 Jul 23:2025.07.20.25331880. doi: 10.1101/2025.07.20.25331880. PMID:
40778130
MH - Humans
+MH - Fragile X Messenger Ribonucleoprotein 1/genetics
MH - *Whole Genome Sequencing/methods
-MH - DNA Methylation/genetics
+MH - *Autistic Disorder/genetics
+MH - *Tandem Repeat Sequences/genetics
MH - *Autism Spectrum Disorder/genetics
-MH - Male
+MH - DNA Methylation/genetics
MH - Female
-MH - Fragile X Messenger Ribonucleoprotein 1/genetics
-MH - *Tandem Repeat Sequences/genetics
+MH - Male
MH - *Genomic Structural Variation/genetics
-MH - *Autistic Disorder/genetics
-MH - Genome, Human
+MH - Genetic Variation
MH - Promoter Regions, Genetic
PMC - PMC13174233
OTO - NOTNLM
@@ -6631,7 +9776,7 @@ PMID- 41771688
OWN - NLM
STAT- MEDLINE
DCOM- 20260308
-LR - 20260531
+LR - 20260613
IS - 2575-1077 (Electronic)
IS - 2575-1077 (Linking)
VI - 9
@@ -6749,27 +9894,26 @@ GR - R01 NS098819/NS/NINDS NIH HHS/United States
GR - R37 NS040389/NS/NINDS NIH HHS/United States
GR - R01 NS117910/NS/NINDS NIH HHS/United States
PT - Journal Article
-PT - Research Support, N.I.H., Intramural
-PT - Research Support, Non-U.S. Gov't
-PT - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20260302
PL - United States
TA - Life Sci Alliance
JT - Life science alliance
JID - 101728869
RN - 9100L32L2N (Metformin)
+RN - EC 3.6.5.2 (ran GTP-Binding Protein)
SB - IM
MH - Animals
-MH - Mice
MH - *Metformin/pharmacology
-MH - Mice, Transgenic
+MH - Mice
MH - *Alternative Splicing/drug effects
+MH - Mice, Transgenic
+MH - Trinucleotide Repeat Expansion/genetics
MH - Disease Models, Animal
-MH - *Spinocerebellar Ataxias/genetics/drug therapy/metabolism/pathology
+MH - *Spinocerebellar Ataxias/drug therapy/genetics/metabolism
MH - Phenotype
-MH - Trinucleotide Repeat Expansion/genetics
-MH - Male
+MH - *ran GTP-Binding Protein/metabolism/genetics
MH - Behavior, Animal/drug effects
+MH - Male
PMC - PMC12954051
COIS- LEL Romano and LPW Ranum are listed as inventors on patents related to RAN
translation, and therapeutic approaches targeting RAN proteins.
@@ -6874,8 +10018,8 @@ SO - Ann Neurosci. 2026 Feb 25:09727531251409516. doi: 10.1177/0972753125140951
PMID- 41762523
OWN - NLM
STAT- MEDLINE
-DCOM- 20260313
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 2352-3964 (Electronic)
IS - 2352-3964 (Linking)
VI - 125
@@ -7049,18 +10193,16 @@ RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
SB - IM
MH - Humans
-MH - Male
+MH - *Microsatellite Repeats
MH - Female
+MH - Male
MH - Aged
-MH - *Microsatellite Repeats
-MH - *DNA Repeat Expansion
-MH - *Dementia/genetics/diagnosis
-MH - *Genetic Predisposition to Disease
MH - Whole Genome Sequencing
-MH - Middle Aged
MH - C9orf72 Protein/genetics
-MH - Frontotemporal Dementia/genetics
-MH - *Neurodegenerative Diseases/genetics
+MH - *DNA Repeat Expansion
+MH - *Dementia/genetics/diagnosis
+MH - *Neurodegenerative Diseases/genetics/diagnosis
+MH - Genetic Predisposition to Disease
PMC - PMC12962126
OTO - NOTNLM
OT - C9orf72 expansion
@@ -7185,8 +10327,8 @@ SO - Front Neurol. 2026 Feb 11;17:1747202. doi: 10.3389/fneur.2026.1747202.
PMID- 41752089
OWN - NLM
STAT- MEDLINE
-DCOM- 20260305
-LR - 20260305
+DCOM- 20260610
+LR - 20260610
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -7381,24 +10523,19 @@ TA - Int J Mol Sci
JT - International journal of molecular sciences
JID - 101092791
RN - 0 (C9orf72 Protein)
-RN - EC 3.5.4.4 (Adenosine Deaminase)
RN - 0 (Purines)
+RN - EC 3.5.4.4 (Adenosine Deaminase)
RN - 0 (C9orf72 protein, human)
RN - 0 (Dipeptides)
-RN - EC 3.5.4.4 (ADA protein, human)
-RN - W60KTZ3IZY (purine)
SB - IM
MH - *Amyotrophic Lateral Sclerosis/metabolism/genetics/pathology
MH - *C9orf72 Protein/genetics/metabolism
MH - Humans
-MH - *Adenosine Deaminase/metabolism/genetics
MH - *Purines/metabolism
MH - Animals
-MH - Mice
-MH - *Dipeptides/genetics/metabolism
+MH - *Adenosine Deaminase/metabolism/genetics
MH - Astrocytes/metabolism
-MH - DNA Repeat Expansion
-MH - Male
+MH - *Dipeptides/genetics/metabolism
PMC - PMC12940700
OTO - NOTNLM
OT - ADA
@@ -7434,8 +10571,8 @@ SO - Int J Mol Sci. 2026 Feb 18;27(4):1953. doi: 10.3390/ijms27041953.
PMID- 41741274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260309
-LR - 20260313
+DCOM- 20260612
+LR - 20260612
IS - 1878-7479 (Electronic)
IS - 1933-7213 (Print)
IS - 1878-7479 (Linking)
@@ -7500,23 +10637,21 @@ JID - 101290381
RN - EC 2.7.11.1 (Casein Kinase II)
RN - C6RWP0N0L2 (silmitasertib)
RN - 0 (Naphthyridines)
-RN - 0 (Huntingtin Protein)
RN - 0 (Phenazines)
SB - IM
UOF - bioRxiv. 2025 Nov 20:2025.11.19.689275. doi: 10.1101/2025.11.19.689275. PMID:
41332649
MH - Animals
MH - *Huntington Disease/drug therapy/pathology
-MH - Mice
-MH - *Casein Kinase II/antagonists & inhibitors
MH - Disease Models, Animal
+MH - *Casein Kinase II/antagonists & inhibitors/metabolism
+MH - Mice
MH - *Naphthyridines/pharmacology/therapeutic use
MH - Mice, Transgenic
-MH - *Motor Activity/drug effects
-MH - Male
-MH - Mice, Inbred C57BL
-MH - Huntingtin Protein/genetics/metabolism
MH - Phenazines
+MH - Male
+MH - Corpus Striatum/drug effects/pathology/metabolism
+MH - *Motor Activity/drug effects
PMC - PMC12976551
OTO - NOTNLM
OT - CK2
@@ -7651,8 +10786,9 @@ SO - Mov Disord. 2026 Feb 23. doi: 10.1002/mds.70243.
PMID- 41724944
OWN - NLM
-STAT- In-Process
-LR - 20260402
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1471-2229 (Electronic)
IS - 1471-2229 (Linking)
VI - 26
@@ -7694,8 +10830,7 @@ AB - BACKGROUND: Gastrodia elata Bl., commonly known as Tianma, is a perennial
expression. CONCLUSION: This study systematically analyzed the characteristics,
evolutionary relationships, and expression patterns of GePRGs, which provide
valuable genetic resources for disease-resistant breeding and the selection of
- superior germplasm in G. elata. SUPPLEMENTARY INFORMATION: The online version
- contains supplementary material available at 10.1186/s12870-026-08343-x.
+ superior germplasm in G. elata.
FAU - Tang, Linshuang
AU - Tang L
AD - College of Agriculture, Guizhou University, Guiyang, 550025, China.
@@ -7768,6 +10903,15 @@ TA - BMC Plant Biol
JT - BMC plant biology
JID - 100967807
SB - IM
+MH - *Gastrodia/genetics
+MH - Phylogeny
+MH - *Evolution, Molecular
+MH - Gene Expression Profiling
+MH - *Genome, Plant
+MH - *Genes, Plant
+MH - Gene Expression Regulation, Plant
+MH - *Disease Resistance/genetics
+MH - Promoter Regions, Genetic
PMC - PMC13036916
OTO - NOTNLM
OT - Cis-acting elements
@@ -7787,13 +10931,13 @@ COIS- Declarations. Ethics approval and consent to participate: No wild populati
Consent for publication: Not applicable. Competing interests: The authors declare
no competing interests.
EDAT- 2026/02/23 01:34
-MHDA- 2026/02/23 01:34
+MHDA- 2026/06/27 18:37
PMCR- 2026/02/23
CRDT- 2026/02/22 23:23
PHST- 2025/08/21 00:00 [received]
PHST- 2026/02/06 00:00 [accepted]
+PHST- 2026/06/27 18:37 [medline]
PHST- 2026/02/23 01:34 [pubmed]
-PHST- 2026/02/23 01:34 [medline]
PHST- 2026/02/22 23:23 [entrez]
PHST- 2026/02/23 00:00 [pmc-release]
AID - 10.1186/s12870-026-08343-x [pii]
@@ -8132,8 +11276,8 @@ SO - NAR Mol Med. 2026 Jan 29;3(1):ugag007. doi: 10.1093/narmme/ugag007. eColle
PMID- 41708002
OWN - NLM
STAT- MEDLINE
-DCOM- 20260423
-LR - 20260423
+DCOM- 20260613
+LR - 20260613
IS - 1083-351X (Electronic)
IS - 0021-9258 (Print)
IS - 0021-9258 (Linking)
@@ -8192,19 +11336,18 @@ TA - J Biol Chem
JT - The Journal of biological chemistry
JID - 2985121R
RN - 26700-71-0 (polyglutamine)
-RN - 0 (Peptides)
RN - 0 (HSP40 Heat-Shock Proteins)
-RN - 25718-94-9 (polyglycine)
+RN - 0 (Peptides)
RN - 0 (Protein Aggregates)
+RN - 0 (Molecular Chaperones)
SB - IM
UOF - bioRxiv. 2025 Aug 12:2025.08.10.669490. doi: 10.1101/2025.08.10.669490. PMID:
40832276
MH - Humans
-MH - *Peptides/metabolism/genetics
MH - *HSP40 Heat-Shock Proteins/metabolism/genetics
-MH - *Protein Aggregates
-MH - *Protein Aggregation, Pathological/metabolism/genetics
-MH - HEK293 Cells
+MH - *Peptides/metabolism/chemistry
+MH - Protein Aggregates
+MH - Molecular Chaperones/metabolism
PMC - PMC12993198
OTO - NOTNLM
OT - aggregation
@@ -8238,8 +11381,8 @@ SO - J Biol Chem. 2026 Apr;302(4):111292. doi: 10.1016/j.jbc.2026.111292. Epub
PMID- 41701293
OWN - NLM
STAT- MEDLINE
-DCOM- 20260217
-LR - 20260217
+DCOM- 20260609
+LR - 20260609
IS - 1559-1182 (Electronic)
IS - 0893-7648 (Linking)
VI - 63
@@ -8376,14 +11519,14 @@ JID - 8900963
RN - EC 3.4.19.12 (Ataxin-3)
SB - IM
MH - Animals
-MH - *Machado-Joseph Disease/genetics/pathology/metabolism
-MH - *Single-Cell Analysis/methods
MH - *Heat-Shock Response/genetics
+MH - *Machado-Joseph Disease/genetics/pathology/metabolism
MH - Mice, Transgenic
MH - Ataxin-3/genetics/metabolism
-MH - Humans
-MH - Mice
MH - *Sequence Analysis, RNA/methods
+MH - *Single-Cell Analysis/methods
+MH - Single-Cell Gene Expression Analysis
+MH - Humans
OTO - NOTNLM
OT - CHIP
OT - HSF1
@@ -8505,8 +11648,9 @@ SO - Neurology. 2026 Mar 24;106(6):e214754. doi: 10.1212/WNL.0000000000214754.
PMID- 41688968
OWN - NLM
-STAT- In-Process
-LR - 20260323
+STAT- MEDLINE
+DCOM- 20260627
+LR - 20260627
IS - 1471-2377 (Electronic)
IS - 1471-2377 (Linking)
VI - 26
@@ -8554,13 +11698,24 @@ AD - Department of Neurology, The Second Affiliated Hospital, Zhejiang Universi
AD - State Key Laboratory of Transvascular Implantation Devices, Hangzhou, 310009,
China. qingqingtao@zju.edu.cn.
LA - eng
+PT - Case Reports
PT - Journal Article
DEP - 20260213
PL - England
TA - BMC Neurol
JT - BMC neurology
JID - 100968555
+RN - Neuronal intranuclear inclusion disease
SB - IM
+MH - Humans
+MH - Male
+MH - *MELAS Syndrome/diagnosis/genetics
+MH - Middle Aged
+MH - *Neurodegenerative Diseases/diagnosis/genetics/pathology/diagnostic imaging
+MH - *Intranuclear Inclusion Bodies/pathology
+MH - Diagnosis, Differential
+MH - Brain/diagnostic imaging/pathology
+MH - Magnetic Resonance Imaging
PMC - PMC13005549
OTO - NOTNLM
OT - Cognitive impairment
@@ -8576,13 +11731,13 @@ COIS- Declarations. Ethics approval and consent to participate: Informed consent
report was obtained from the patient's legal guardian. Competing interests: The
authors declare no competing interests.
EDAT- 2026/02/14 05:30
-MHDA- 2026/02/14 05:30
+MHDA- 2026/06/28 00:36
PMCR- 2026/02/13
CRDT- 2026/02/13 23:58
PHST- 2025/12/14 00:00 [received]
PHST- 2026/02/02 00:00 [accepted]
+PHST- 2026/06/28 00:36 [medline]
PHST- 2026/02/14 05:30 [pubmed]
-PHST- 2026/02/14 05:30 [medline]
PHST- 2026/02/13 23:58 [entrez]
PHST- 2026/02/13 00:00 [pmc-release]
AID - 10.1186/s12883-026-04705-y [pii]
@@ -8594,8 +11749,8 @@ SO - BMC Neurol. 2026 Feb 13;26(1):178. doi: 10.1186/s12883-026-04705-y.
PMID- 41683965
OWN - NLM
STAT- MEDLINE
-DCOM- 20260213
-LR - 20260216
+DCOM- 20260612
+LR - 20260612
IS - 1422-0067 (Electronic)
IS - 1422-0067 (Linking)
VI - 27
@@ -8684,21 +11839,22 @@ PL - Switzerland
TA - Int J Mol Sci
JT - International journal of molecular sciences
JID - 101092791
-RN - 0 (Ataxin-2)
RN - 0 (ATXN2 protein, human)
+RN - 0 (Ataxin-2)
SB - IM
MH - Humans
MH - *Preimplantation Diagnosis/methods
-MH - *Spinocerebellar Ataxias/genetics/diagnosis
-MH - Female
MH - *Trinucleotide Repeat Expansion/genetics
+MH - Female
+MH - *Spinocerebellar Ataxias/genetics/diagnosis
MH - *Ataxin-2/genetics
-MH - *Genetic Testing/methods
MH - Pregnancy
-MH - Male
MH - Microsatellite Repeats
+MH - *Genetic Testing/methods
MH - Genotype
-MH - Adult
+MH - Male
+MH - Haplotypes
+MH - Alleles
PMC - PMC12898808
OTO - NOTNLM
OT - multi-microsatellite haplotyping
@@ -8726,8 +11882,8 @@ SO - Int J Mol Sci. 2026 Feb 4;27(3):1546. doi: 10.3390/ijms27031546.
PMID- 41666686
OWN - NLM
STAT- MEDLINE
-DCOM- 20260312
-LR - 20260312
+DCOM- 20260607
+LR - 20260607
IS - 1532-2661 (Electronic)
IS - 0034-5288 (Linking)
VI - 203
@@ -8781,18 +11937,19 @@ JT - Research in veterinary science
JID - 0401300
SB - IM
MH - Animals
-MH - *Escherichia coli O157/genetics/isolation & purification/classification
+MH - *Escherichia coli O157/genetics/pathogenicity/isolation &
+ purification/classification
MH - *Genetic Variation
-MH - Iran/epidemiology
MH - Cattle
-MH - *Escherichia coli Infections/veterinary/microbiology/epidemiology
-MH - Goats
MH - Sheep
MH - Minisatellite Repeats/genetics
+MH - *Escherichia coli Infections/veterinary/microbiology/epidemiology
+MH - Phylogeny
+MH - Iran/epidemiology
+MH - Goats
MH - Cattle Diseases/microbiology/epidemiology
+MH - Polymerase Chain Reaction/veterinary
MH - Goat Diseases/microbiology/epidemiology
-MH - Phylogeny
-MH - Multilocus Sequence Typing/veterinary
MH - Sheep Diseases/microbiology/epidemiology
OTO - NOTNLM
OT - Escherichia coli
@@ -8958,8 +12115,8 @@ SO - Front Neurosci. 2026 Jan 23;20:1741065. doi: 10.3389/fnins.2026.1741065.
PMID- 41643661
OWN - NLM
STAT- MEDLINE
-DCOM- 20260319
-LR - 20260527
+DCOM- 20260608
+LR - 20260608
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -9086,24 +12243,23 @@ PL - United States
TA - Neuron
JT - Neuron
JID - 8809320
+RN - 63231-63-0 (RNA)
RN - 0 (C9orf72 Protein)
RN - 0 (C9orf72 protein, human)
-RN - 63231-63-0 (RNA)
RN - 9007-49-2 (DNA)
-RN - 0 (Chromatin)
SB - IM
+MH - *G-Quadruplexes
MH - Humans
+MH - *RNA/genetics
MH - *C9orf72 Protein/genetics
-MH - *G-Quadruplexes
-MH - *RNA/genetics/metabolism
MH - *DNA Repeat Expansion/genetics
MH - *Amyotrophic Lateral Sclerosis/genetics
-MH - Frontotemporal Dementia/genetics
MH - *DNA/genetics
-MH - Transcription, Genetic
-MH - Chromatin/metabolism
+MH - *Transcription, Genetic
+MH - Frontotemporal Dementia/genetics
+MH - Gene Expression Regulation/genetics
MH - Motor Neurons/metabolism
-MH - Gene Expression Regulation
+MH - Animals
PMC - PMC13204405
MID - NIHMS2168308
OTO - NOTNLM
@@ -9136,8 +12292,8 @@ SO - Neuron. 2026 Mar 18;114(6):1045-1065.e13. doi: 10.1016/j.neuron.2025.12.00
PMID- 41636220
OWN - NLM
STAT- MEDLINE
-DCOM- 20260204
-LR - 20260204
+DCOM- 20260610
+LR - 20260610
IS - 1365-2052 (Electronic)
IS - 0268-9146 (Linking)
VI - 57
@@ -9228,10 +12384,10 @@ MH - Animals
MH - *Microsatellite Repeats
MH - *Genotyping Techniques/methods/veterinary
MH - *Sus scrofa/genetics
+MH - *Multiplex Polymerase Chain Reaction/veterinary/methods
MH - Genotype
-MH - Species Specificity
MH - Reproducibility of Results
-MH - Breeding
+MH - Species Specificity
MH - Pedigree
OTO - NOTNLM
OT - STR genotyping
@@ -9500,8 +12656,8 @@ SO - Neurol Genet. 2026 Feb 2;12(1):e200345. doi: 10.1212/NXG.0000000000200345.
PMID- 41599099
OWN - NLM
STAT- MEDLINE
-DCOM- 20260128
-LR - 20260131
+DCOM- 20260701
+LR - 20260701
IS - 2076-0817 (Electronic)
IS - 2076-0817 (Linking)
VI - 15
@@ -9585,22 +12741,25 @@ JID - 101596317
RN - 0 (Antitubercular Agents)
SB - IM
MH - Humans
-MH - *Mycobacterium tuberculosis/genetics/isolation & purification/drug
- effects/classification
-MH - Retrospective Studies
-MH - Molecular Epidemiology
-MH - *Tuberculosis/epidemiology/microbiology
+MH - *Mycobacterium tuberculosis/genetics/isolation & purification/classification/drug
+ effects
MH - Female
+MH - Molecular Epidemiology
MH - *Genetic Variation
-MH - Middle Aged
+MH - Retrospective Studies
+MH - *Tuberculosis/epidemiology/microbiology
MH - Male
-MH - Adult
+MH - Middle Aged
+MH - New Brunswick/epidemiology
MH - Minisatellite Repeats
-MH - Antitubercular Agents/pharmacology/therapeutic use
-MH - Microbial Sensitivity Tests
+MH - Adult
MH - Aged
+MH - Antitubercular Agents/pharmacology
+MH - Microbial Sensitivity Tests
+MH - Genotype
MH - Young Adult
MH - Adolescent
+MH - Incidence
PMC - PMC12845405
OTO - NOTNLM
OT - Mycobacterium tuberculosis complex
@@ -9761,8 +12920,8 @@ SO - Allergy Asthma Immunol Res. 2026 Jan;18(1):55-66. doi: 10.4168/aair.2026.1
PMID- 41566321
OWN - NLM
STAT- MEDLINE
-DCOM- 20260214
-LR - 20260216
+DCOM- 20260630
+LR - 20260630
IS - 1746-6148 (Electronic)
IS - 1746-6148 (Linking)
VI - 22
@@ -9860,18 +13019,18 @@ JT - BMC veterinary research
JID - 101249759
SB - IM
MH - Italy/epidemiology
+MH - *Genetic Variation
MH - Animals
MH - *Brucella ovis/genetics/classification
-MH - *Brucellosis/veterinary/microbiology/epidemiology
-MH - *Sheep Diseases/microbiology/epidemiology
-MH - *Genetic Variation
-MH - Multilocus Sequence Typing/veterinary
-MH - Phylogeny
MH - Polymorphism, Single Nucleotide
+MH - Phylogeny
MH - Sheep
-MH - Minisatellite Repeats
+MH - Multilocus Sequence Typing/veterinary
+MH - *Sheep Diseases/microbiology/epidemiology
+MH - *Brucellosis/veterinary/microbiology/epidemiology
MH - Genome, Bacterial
MH - Genotype
+MH - Minisatellite Repeats
PMC - PMC12905960
OTO - NOTNLM
OT - Brucella ovis
@@ -9904,8 +13063,8 @@ SO - BMC Vet Res. 2026 Jan 21;22(1):100. doi: 10.1186/s12917-025-05124-w.
PMID- 41556371
OWN - NLM
STAT- MEDLINE
-DCOM- 20260120
-LR - 20260120
+DCOM- 20260630
+LR - 20260630
IS - 1471-4159 (Electronic)
IS - 0022-3042 (Linking)
VI - 170
@@ -10020,15 +13179,14 @@ RN - Neuronal intranuclear inclusion disease
SB - IM
MH - Humans
MH - *Oxidative Stress/physiology
-MH - Female
-MH - Male
-MH - Proteomics/methods
-MH - *Mitochondria/metabolism/pathology
MH - *Autophagy/physiology
+MH - *Mitochondria/metabolism/pathology/genetics
MH - *Neurodegenerative Diseases/metabolism/pathology/genetics
+MH - *Proteomics/methods
+MH - Male
+MH - Female
+MH - *Intranuclear Inclusion Bodies/pathology/metabolism/genetics
MH - Middle Aged
-MH - *Sweat Glands/metabolism/pathology
-MH - *Intranuclear Inclusion Bodies/pathology/metabolism
MH - Aged
MH - Adult
OTO - NOTNLM
@@ -10052,9 +13210,9 @@ SO - J Neurochem. 2026 Jan;170(1):e70352. doi: 10.1111/jnc.70352.
PMID- 41514368
OWN - NLM
-STAT- In-Process
-DCOM- 20260128
-LR - 20260601
+STAT- MEDLINE
+DCOM- 20260625
+LR - 20260625
IS - 1756-994X (Electronic)
IS - 1756-994X (Linking)
VI - 18
@@ -10199,19 +13357,19 @@ JID - 101475844
SB - IM
MH - Humans
MH - Child
+MH - *Nervous System Diseases/genetics/diagnosis
MH - Adolescent
MH - Female
-MH - Male
-MH - *Nervous System Diseases/genetics/diagnosis
MH - Child, Preschool
+MH - Male
+MH - *Genome, Human
MH - *Whole Genome Sequencing/methods
-MH - *Genetic Testing/methods
-MH - Young Adult
-MH - Prospective Studies
+MH - DNA Methylation
+MH - Genetic Testing/methods
+MH - Sequence Analysis, DNA
MH - Infant
-MH - *Genome, Human
-MH - Sequence Analysis, DNA/methods
-MH - High-Throughput Nucleotide Sequencing
+MH - Polymorphism, Single Nucleotide
+MH - Shotgun Sequencing
PMC - PMC12838436
OTO - NOTNLM
OT - Chromosomal rearrangements
@@ -10251,8 +13409,8 @@ SO - Genome Med. 2026 Jan 9;18(1):12. doi: 10.1186/s13073-025-01596-5.
PMID- 41504274
OWN - NLM
STAT- MEDLINE
-DCOM- 20260601
-LR - 20260601
+DCOM- 20260625
+LR - 20260625
IS - 1531-8257 (Electronic)
IS - 0885-3185 (Print)
IS - 0885-3185 (Linking)
@@ -11619,7 +14777,7 @@ PMID- 41318397
OWN - NLM
STAT- MEDLINE
DCOM- 20260124
-LR - 20260125
+LR - 20260612
IS - 1471-2180 (Electronic)
IS - 1471-2180 (Linking)
VI - 26
@@ -15450,7 +18608,7 @@ PMID- 41030958
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20260324
-LR - 20260324
+LR - 20260619
IS - 2692-8205 (Electronic)
IS - 2692-8205 (Linking)
DP - 2025 Aug 6
@@ -21302,7 +24460,7 @@ PMID- 40708231
OWN - NLM
STAT- MEDLINE
DCOM- 20251118
-LR - 20260127
+LR - 20260613
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -21396,6 +24554,7 @@ GR - 112-2314-B-075-034-MY3/National Science and Technology Council/
GR - 112-2314-B-075-057/National Science and Technology Council/
GR - CMRPG3L1651/Chang Gung Memorial Hospital/
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20250724
PL - United States
TA - Ann Clin Transl Neurol
@@ -23503,7 +26662,7 @@ PMID- 40541176
OWN - NLM
STAT- MEDLINE
DCOM- 20250709
-LR - 20250807
+LR - 20260616
IS - 2213-6711 (Electronic)
IS - 2213-6711 (Linking)
VI - 20
@@ -23609,6 +26768,7 @@ AD - Developmental Biology Program & Center for Stem Cell Biology, Memorial Slo
LA - eng
GR - P30 CA008748/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250619
PL - United States
TA - Stem Cell Reports
@@ -27506,6 +30666,7 @@ AID - 10.1186/s13619-025-00232-2 [doi]
PST - epublish
SO - Cell Regen. 2025 Apr 29;14(1):16. doi: 10.1186/s13619-025-00232-2.
+
PMID- 40287634
OWN - NLM
STAT- MEDLINE
@@ -30706,7 +33867,6 @@ AID - 10.1101/gr.279414.124 [doi]
PST - epublish
SO - Genome Res. 2025 Apr 14;35(4):755-768. doi: 10.1101/gr.279414.124.
-
PMID- 40136449
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -32499,7 +35659,7 @@ PMID- 40007153
OWN - NLM
STAT- MEDLINE
DCOM- 20250429
-LR - 20250501
+LR - 20260630
IS - 2328-9503 (Electronic)
IS - 2328-9503 (Linking)
VI - 12
@@ -32674,6 +35834,7 @@ LA - eng
GR - MRF2023126/Medical Research Future Fund/
GR - MRF2025138/Medical Research Future Fund/
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20250225
PL - United States
TA - Ann Clin Transl Neurol
@@ -34137,7 +37298,7 @@ PMID- 39923663
OWN - NLM
STAT- MEDLINE
DCOM- 20250506
-LR - 20250506
+LR - 20260616
IS - 1872-9142 (Electronic)
IS - 0161-5890 (Linking)
VI - 179
@@ -35475,7 +38636,7 @@ PMID- 39810148
OWN - NLM
STAT- MEDLINE
DCOM- 20250430
-LR - 20250521
+LR - 20260612
IS - 1471-2180 (Electronic)
IS - 1471-2180 (Linking)
VI - 25
@@ -37013,7 +40174,7 @@ PMID- 39710066
OWN - NLM
STAT- MEDLINE
DCOM- 20250428
-LR - 20250519
+LR - 20260629
IS - 1096-1194 (Electronic)
IS - 0890-8508 (Linking)
VI - 79
@@ -37102,6 +40263,7 @@ AD - Institute of Clinical and Translational Research, Biomedical Research Cent
Slovakia. Electronic address: jradvanszky@gmail.com.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20241229
PL - England
TA - Mol Cell Probes
@@ -40717,7 +43879,7 @@ PMID- 39415708
OWN - NLM
STAT- MEDLINE
DCOM- 20250604
-LR - 20251018
+LR - 20260626
IS - 1098-5549 (Electronic)
IS - 0270-7306 (Print)
IS - 0270-7306 (Linking)
@@ -40789,6 +43951,8 @@ GR - R21 AR081472/AR/NIAMS NIH HHS/United States
GR - R01 AR060733/AR/NIAMS NIH HHS/United States
GR - P30 CA125123/CA/NCI NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20241017
PL - United States
TA - Mol Cell Biol
@@ -43361,7 +46525,7 @@ PMID- 39152783
OWN - NLM
STAT- MEDLINE
DCOM- 20241112
-LR - 20260127
+LR - 20260701
IS - 1468-1331 (Electronic)
IS - 1351-5101 (Print)
IS - 1351-5101 (Linking)
@@ -45124,7 +48288,7 @@ PMID- 39053472
OWN - NLM
STAT- MEDLINE
DCOM- 20240924
-LR - 20260127
+LR - 20260621
IS - 2379-3708 (Electronic)
IS - 2379-3708 (Linking)
VI - 9
@@ -45212,6 +48376,7 @@ GR - R01 HD099486/HD/NICHD NIH HHS/United States
GR - R21 NS098131/NS/NINDS NIH HHS/United States
GR - R35 NS122140/NS/NINDS NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20240718
PL - United States
TA - JCI Insight
@@ -48802,7 +51967,7 @@ PMID- 38713708
OWN - NLM
STAT- MEDLINE
DCOM- 20240517
-LR - 20240815
+LR - 20260619
IS - 1553-7404 (Electronic)
IS - 1553-7390 (Print)
IS - 1553-7390 (Linking)
@@ -48941,6 +52106,7 @@ AD - University College London Institute of Ophthalmology, London, United Kingd
AD - Moorfields Eye Hospital, London, United Kingdom.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20240507
PL - United States
TA - PLoS Genet
@@ -49304,7 +52470,7 @@ PMID- 38701790
OWN - NLM
STAT- MEDLINE
DCOM- 20240704
-LR - 20250816
+LR - 20260622
IS - 1097-4199 (Electronic)
IS - 0896-6273 (Print)
IS - 0896-6273 (Linking)
@@ -49811,6 +52977,7 @@ GR - ZIA NS003154/ImNIH/Intramural NIH HHS/United States
GR - U24 NS072026/NS/NINDS NIH HHS/United States
GR - WT_/Wellcome Trust/United Kingdom
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
DEP - 20240502
PL - United States
TA - Neuron
@@ -52825,9 +55992,8 @@ PMID- 38374498
OWN - NLM
STAT- MEDLINE
DCOM- 20240501
-LR - 20260528
+LR - 20260626
IS - 1399-0004 (Electronic)
-IS - 0009-9163 (Print)
IS - 0009-9163 (Linking)
VI - 105
IP - 6
@@ -53003,6 +56169,7 @@ GR - IA/CRC/20/1/600002/WTDBT_/DBT-Wellcome Trust India Alliance/India
GR - R01 HD093570/HD/NICHD NIH HHS/United States
GR - 1R01HD093570-01A1/NH/NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
PT - Research Support, Non-U.S. Gov't
DEP - 20240219
PL - Denmark
@@ -53035,10 +56202,8 @@ OT - epilepsy
OT - genetic testing
OT - genetics
OT - therapeutic implications
-COIS- Conflict of interest The authors have no conflicts of interest to disclose.
EDAT- 2024/02/20 11:50
MHDA- 2024/05/02 00:49
-PMCR- 2025/06/01
CRDT- 2024/02/20 00:16
PHST- 2024/01/13 00:00 [revised]
PHST- 2023/11/13 00:00 [received]
@@ -53046,7 +56211,6 @@ PHST- 2024/01/23 00:00 [accepted]
PHST- 2024/05/02 00:49 [medline]
PHST- 2024/02/20 11:50 [pubmed]
PHST- 2024/02/20 00:16 [entrez]
-PHST- 2025/06/01 00:00 [pmc-release]
AID - 10.1111/cge.14495 [doi]
PST - ppublish
SO - Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19.
@@ -56503,7 +59667,7 @@ PMID- 37992538
OWN - NLM
STAT- MEDLINE
DCOM- 20240108
-LR - 20240108
+LR - 20260624
IS - 1873-5126 (Electronic)
IS - 1353-8020 (Linking)
VI - 118
@@ -56584,6 +59748,7 @@ AD - Department of Neurology, Seoul Metropolitan Government - Seoul National
Seoul, South Korea. Electronic address: wieber04@snu.ac.kr.
LA - eng
PT - Journal Article
+PT - Research Support, Non-U.S. Gov't
DEP - 20231121
PL - England
TA - Parkinsonism Relat Disord
@@ -57415,6 +60580,7 @@ AID - 10.3390/plants12203566 [doi]
PST - epublish
SO - Plants (Basel). 2023 Oct 13;12(20):3566. doi: 10.3390/plants12203566.
+
PMID- 37891975
OWN - NLM
STAT- PubMed-not-MEDLINE
@@ -59578,7 +62744,6 @@ AID - 10.3390/genes14081518 [doi]
PST - epublish
SO - Genes (Basel). 2023 Jul 25;14(8):1518. doi: 10.3390/genes14081518.
-
PMID- 37593836
OWN - NLM
STAT- MEDLINE
@@ -77778,7 +80943,7 @@ PMID- 35868859
OWN - NLM
STAT- MEDLINE
DCOM- 20260512
-LR - 20260512
+LR - 20260610
IS - 2373-2822 (Electronic)
IS - 2373-2822 (Linking)
VI - 9
@@ -77907,6 +81072,8 @@ AD - Department of Neuroscience, School of Medicine, Johns Hopkins University,
LA - eng
GR - T32 MH015330/MH/NIMH NIH HHS/United States
PT - Journal Article
+PT - Research Support, N.I.H., Extramural
+PT - Research Support, Non-U.S. Gov't
DEP - 20220830
PL - United States
TA - eNeuro
@@ -88824,6 +91991,7 @@ PST - ppublish
SO - EMBO Mol Med. 2021 Nov 8;13(11):e14163. doi: 10.15252/emmm.202114163. Epub 2021
Sep 20.
+
PMID- 34528764
OWN - NLM
STAT- MEDLINE
@@ -90911,7 +94079,6 @@ AID - 10.1186/s12883-021-02306-5 [doi]
PST - epublish
SO - BMC Neurol. 2021 Jul 9;21(1):273. doi: 10.1186/s12883-021-02306-5.
-
PMID- 34238289
OWN - NLM
STAT- MEDLINE
@@ -117368,6 +120535,7 @@ AID - 37 [pii]
PST - epublish
SO - Mol Vis. 2019 Aug 9;25:427-437. eCollection 2019.
+
PMID- 31522753
OWN - NLM
STAT- MEDLINE
@@ -119766,7 +122934,6 @@ PST - ppublish
SO - Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019
Jul 22.
-
PMID- 31332380
OWN - NLM
STAT- MEDLINE
@@ -146819,6 +149986,7 @@ PST - ppublish
SO - Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi:
10.1167/iovs.16-21341.
+
PMID- 28525545
OWN - NLM
STAT- MEDLINE
@@ -148771,7 +151939,6 @@ AID - 10.7589/2015-12-329 [doi]
PST - ppublish
SO - J Wildl Dis. 2017 Apr;53(2):339-343. doi: 10.7589/2015-12-329. Epub 2017 Jan 24.
-
PMID- 28093076
OWN - NLM
STAT- MEDLINE
@@ -158005,7 +161172,7 @@ LA - eng
PT - Case Reports
PT - Journal Article
DEP - 20160304
-PL - Italy
+PL - England
TA - J Nephrol
JT - Journal of nephrology
JID - 9012268
@@ -171749,6 +174916,7 @@ AID - 10.3378/027.086.0205 [doi]
PST - ppublish
SO - Hum Biol. 2014 Spring;86(2):113-30. doi: 10.3378/027.086.0205.
+
PMID- 25377888
OWN - NLM
STAT- MEDLINE
@@ -173805,7 +176973,6 @@ AID - 10.1167/iovs.14-14958 [doi]
PST - epublish
SO - Invest Ophthalmol Vis Sci. 2014 Aug 28;55(9):6101-7. doi: 10.1167/iovs.14-14958.
-
PMID- 25158292
OWN - NLM
STAT- MEDLINE
@@ -178026,7 +181193,7 @@ PMID- 24598541
OWN - NLM
STAT- MEDLINE
DCOM- 20140401
-LR - 20260128
+LR - 20260603
IS - 1476-4687 (Electronic)
IS - 0028-0836 (Print)
IS - 0028-0836 (Linking)
@@ -178107,13 +181274,12 @@ AD - 1] Department of Biochemistry and Molecular Biology, Johns Hopkins Univers
University Baltimore, Maryland 21205, USA.
LA - eng
GR - R01 NS085207/NS/NINDS NIH HHS/United States
+GR - P50 AG005146/AG/NIA NIH HHS/United States
GR - R01 NS074324/NS/NINDS NIH HHS/United States
GR - NS085207/NS/NINDS NIH HHS/United States
GR - P50AG05146/AG/NIA NIH HHS/United States
GR - 5T32CA009110-36/CA/NCI NIH HHS/United States
GR - NS07432/NS/NINDS NIH HHS/United States
-GR - UL1 TR001079/TR/NCATS NIH HHS/United States
-GR - P50 AG005146/AG/NIA NIH HHS/United States
GR - P30 DK089502/DK/NIDDK NIH HHS/United States
GR - T32 CA009110/CA/NCI NIH HHS/United States
PT - Journal Article
@@ -193708,7 +196874,6 @@ STAT- MEDLINE
DCOM- 20120511
LR - 20260518
IS - 1474-4465 (Electronic)
-IS - 1474-4422 (Print)
IS - 1474-4422 (Linking)
VI - 11
IP - 4
@@ -194161,12 +197326,10 @@ FIR - Logroscino, Giancarlo
IR - Logroscino G
EDAT- 2012/03/13 06:00
MHDA- 2012/05/12 06:00
-PMCR- 2012/04/01
CRDT- 2012/03/13 06:00
PHST- 2012/03/13 06:00 [entrez]
PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/05/12 06:00 [medline]
-PHST- 2012/04/01 00:00 [pmc-release]
AID - S1474-4422(12)70043-1 [pii]
AID - 10.1016/S1474-4422(12)70043-1 [doi]
PST - ppublish
@@ -195289,6 +198452,7 @@ PST - ppublish
SO - Infect Genet Evol. 2012 Jun;12(4):748-54. doi: 10.1016/j.meegid.2012.01.021. Epub
2012 Feb 10.
+
PMID- 22305801
OWN - NLM
STAT- MEDLINE
@@ -197399,7 +200563,6 @@ PST - ppublish
SO - Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):53-60. doi:
10.1002/ajmg.b.32001. Epub 2011 Nov 16.
-
PMID- 22089346
OWN - NLM
STAT- MEDLINE
@@ -197495,7 +200658,6 @@ STAT- MEDLINE
DCOM- 20120104
LR - 20260429
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 31
IP - 45
@@ -197598,14 +200760,11 @@ PMC - PMC3256125
MID - NIHMS340603
EDAT- 2011/11/11 06:00
MHDA- 2012/01/05 06:00
-PMCR- 2012/05/09
CRDT- 2011/11/11 06:00
PHST- 2011/11/11 06:00 [entrez]
PHST- 2011/11/11 06:00 [pubmed]
PHST- 2012/01/05 06:00 [medline]
-PHST- 2012/05/09 00:00 [pmc-release]
AID - 31/45/16269 [pii]
-AID - 3734364 [pii]
AID - 10.1523/JNEUROSCI.4000-11.2011 [doi]
PST - ppublish
SO - J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.
@@ -206948,7 +210107,6 @@ STAT- MEDLINE
DCOM- 20090803
LR - 20260429
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 27
@@ -207038,14 +210196,11 @@ PMC - PMC2782569
MID - NIHMS133699
EDAT- 2009/07/10 09:00
MHDA- 2009/08/04 09:00
-PMCR- 2010/01/08
CRDT- 2009/07/10 09:00
PHST- 2009/07/10 09:00 [entrez]
PHST- 2009/07/10 09:00 [pubmed]
PHST- 2009/08/04 09:00 [medline]
-PHST- 2010/01/08 00:00 [pmc-release]
AID - 29/27/8752 [pii]
-AID - 3501814 [pii]
AID - 10.1523/JNEUROSCI.0915-09.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Jul 8;29(27):8752-63. doi: 10.1523/JNEUROSCI.0915-09.2009.
@@ -208129,7 +211284,6 @@ STAT- MEDLINE
DCOM- 20090416
LR - 20250529
IS - 1529-2401 (Electronic)
-IS - 0270-6474 (Print)
IS - 0270-6474 (Linking)
VI - 29
IP - 7
@@ -208240,14 +211394,11 @@ PMC - PMC2746676
MID - NIHMS96954
EDAT- 2009/02/21 09:00
MHDA- 2009/04/17 09:00
-PMCR- 2009/08/18
CRDT- 2009/02/21 09:00
PHST- 2009/02/21 09:00 [entrez]
PHST- 2009/02/21 09:00 [pubmed]
PHST- 2009/04/17 09:00 [medline]
-PHST- 2009/08/18 00:00 [pmc-release]
AID - 29/7/1987 [pii]
-AID - 3451545 [pii]
AID - 10.1523/JNEUROSCI.4072-08.2009 [doi]
PST - ppublish
SO - J Neurosci. 2009 Feb 18;29(7):1987-97. doi: 10.1523/JNEUROSCI.4072-08.2009.
@@ -215016,6 +218167,7 @@ AID - 10.1371/journal.pone.0000461 [doi]
PST - epublish
SO - PLoS One. 2007 May 23;2(5):e461. doi: 10.1371/journal.pone.0000461.
+
PMID- 17519034
OWN - NLM
STAT- MEDLINE
@@ -216732,7 +219884,6 @@ PST - ppublish
SO - J Clin Microbiol. 2007 Feb;45(2):522-8. doi: 10.1128/JCM.02136-06. Epub 2006 Dec
13.
-
PMID- 17138075
OWN - NLM
STAT- MEDLINE
@@ -233841,6 +236992,7 @@ AID - 10.1128/JCM.39.1.119-128.2001 [doi]
PST - ppublish
SO - J Clin Microbiol. 2001 Jan;39(1):119-28. doi: 10.1128/JCM.39.1.119-128.2001.
+
PMID- 11121196
OWN - NLM
STAT- MEDLINE
@@ -235356,7 +238508,6 @@ AID - 10.1086/303013 [doi]
PST - ppublish
SO - Am J Hum Genet. 2000 Aug;67(2):345-56. doi: 10.1086/303013. Epub 2000 Jul 7.
-
PMID- 10885495
OWN - NLM
STAT- MEDLINE
@@ -251296,6 +254447,7 @@ AID - S0006-4971(20)85285-9 [pii]
PST - ppublish
SO - Blood. 1991 Jun 15;77(12):2677-81.
+
PMID- 2022752
OWN - NLM
STAT- MEDLINE