{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T11:47:06Z","timestamp":1792583226256,"version":"4.5.0"},"reference-count":47,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      A substantial proportion of individuals with suspected genetic conditions, including neuromuscular disorders, lack a definitive molecular diagnosis. Non\u2010coding variants, particularly those in the 3\u2032 untranslated region (3\u00b4UTR), which regulate mRNA stability, translation, and localization, may underlie part of this gap. We investigated the clinical, genetic, and functional relevance of a novel 3\u2032UTR variant in\n                      <jats:italic>CAPN3<\/jats:italic>\n                      in individuals with persistent hyperCKemia, most of whom also presented with proximal muscle weakness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical assessment, including muscle biopsy and muscle magnetic resonance imaging (MRI), was performed in individuals harboring the\n                      <jats:italic>CAPN3<\/jats:italic>\n                      c.*534T&gt;C variant. In silico analyses included the assessment of miRNA binding, mRNA secondary structure, creation or disruption of a poly\u2010A tail, and RNA\u2010binding protein (RBP) motifs. A luciferase reporter assay with the c.*534T&gt;C and reference sequence, in the presence or absence of RBFOX1 co\u2010expression, was performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 13 individuals from 11 unrelated families presenting with persistent hyperCKemia, commonly accompanied by proximal muscle weakness and myalgia, all harboring the c.*534T&gt;C variant in combination with a previously identified heterozygous\n                      <jats:italic>CAPN3<\/jats:italic>\n                      variant. Western blot analyses consistently demonstrated absent or markedly reduced calpain\u20103 expression, and muscle RNA sequencing (RNAseq) showed reduced\n                      <jats:italic>CAPN3<\/jats:italic>\n                      levels. In silico analyses indicated that the c.*534T&gt;C variant creates a novel binding site for the RNA\u2010binding protein RBFOX1. Luciferase reporter assays supported a regulatory effect of the identified variant on calpain\u20103 expression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Our results show that a recurrent non\u2010coding\n                      <jats:italic>CAPN3<\/jats:italic>\n                      variant causes disease by disrupting post\u2010transcriptional regulation and demonstrate a generalizable principle, as 3\u2032UTR variants can affect mRNA stability and protein expression across neuromuscular and other Mendelian diseases. Although often difficult to interpret as pathogenic, these variants can be therapeutically actionable, highlighting the importance of systematically investigating non\u2010coding regions in unsolved genetic cases. ANN NEUROL 2026\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.78381","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T11:32:59Z","timestamp":1792582379000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Recurrent 3\u2032\n                    <scp>UTR<\/scp>\n                    Variant in\n                    <scp>\n                      <i>CAPN3<\/i>\n                    <\/scp>\n                    Highlights the Diagnostic Impact of Non\u2010Coding Variants in Limb\u2010Girdle Muscular Dystrophies"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1711-7489","authenticated-orcid":false,"given":"Berta","family":"Est\u00e9vez\u2010Arias","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5185-5031","authenticated-orcid":false,"given":"Alba","family":"Segarra\u2010Casas","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Joint Research Unit on Genomic Medicine Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Genetics Department Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Seoane","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Department of Molecular Biology and Biochemistry University of M\u00e1laga  M\u00e1laga Spain"},{"name":"Institute of Biomedical Research in Malaga and Platform of Nanomedicine (IBIMA Plataforma BIONAND)  Malaga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Romo","sequence":"additional","affiliation":[{"name":"Harvard Medical Genetics Training Program Boston Children's Hospital  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine for Systemic and Organ Diseases, Federation of Genetics and Genomic Medicine, APHP Centre Universit\u00e9 Paris Cit\u00e9, Cochin Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9850-8504","authenticated-orcid":false,"given":"Marta","family":"Caballero\u2010\u00c1vila","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Neuromuscular Diseases Unit, Department of Neurology Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Austin\u2010Tse","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard  Cambridge MA USA"},{"name":"Center for Genomic Medicine Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Konyukh","sequence":"additional","affiliation":[{"name":"Department of Genetics Henri Mondor University Hospital, APHP, Universit\u00e9 Paris Est Creteil, INSERM, IMRB  Cr\u00e9teil France"},{"name":"Laboratoire de Biologie M\u00e9dicale Multisites SeqOIA \u2010 PFMG2025  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Obeid","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hinderhofer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozge","family":"Aksel\u2010Kilicarslan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG)  Barcelona Spain"},{"name":"Universitat de Barcelona (UB)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rojano","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Department of Molecular Biology and Biochemistry University of M\u00e1laga  M\u00e1laga Spain"},{"name":"Institute of Biomedical Research in Malaga and Platform of Nanomedicine (IBIMA Plataforma BIONAND)  Malaga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan AG","family":"Ranea","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Department of Molecular Biology and Biochemistry University of M\u00e1laga  M\u00e1laga Spain"},{"name":"Institute of Biomedical Research in Malaga and Platform of Nanomedicine (IBIMA Plataforma BIONAND)  Malaga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7669-8239","authenticated-orcid":false,"given":"Emily","family":"O'Heir","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard  Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moriel","family":"Singer\u2010Berk","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard  Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"O'Leary","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard  Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"O'Donnell\u2010Luria","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Massachusetts General Hospital, Harvard Medical School  Boston MA USA"},{"name":"Division of Genetics and Genomics, Boston Children's Hospital Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0048-9558","authenticated-orcid":false,"given":"Marco","family":"Spinazzi","sequence":"additional","affiliation":[{"name":"Department of Neurology Centre Hospitalier Universitaire d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Verebi","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine for Systemic and Organ Diseases, Federation of Genetics and Genomic Medicine, APHP Centre Universit\u00e9 Paris Cit\u00e9, Cochin Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine for Systemic and Organ Diseases, Federation of Genetics and Genomic Medicine, APHP Centre Universit\u00e9 Paris Cit\u00e9, Cochin Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Van Den Bergh","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Centre, Department of Neurology University Hospital Saint Luc  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4090-041X","authenticated-orcid":false,"given":"Sabine","family":"Specht","sequence":"additional","affiliation":[{"name":"Division of Paediatric Neurology and Metabolic Medicine, Centre for Paediatrics and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noem\u00ed","family":"de Luna","sequence":"additional","affiliation":[{"name":"Health and Biomedicine Department Leitat Technological Center  Terrassa Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"de Castro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Virgen Macarena  Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6583-9996","authenticated-orcid":false,"given":"Jennifer","family":"Roggenbuck","sequence":"additional","affiliation":[{"name":"Department of Neurology The Ohio State University Wexner Medical Center  Columbus OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Carrera\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesica","family":"Exp\u00f3sito\u2010Escudero","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Jou","sequence":"additional","affiliation":[{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Department of Pathology Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4950-7657","authenticated-orcid":false,"given":"Laura","family":"Llans\u00f3","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Neuromuscular Diseases Unit, Department of Neurology Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelio","family":"Hern\u00e1ndez\u2010La\u00edn","sequence":"additional","affiliation":[{"name":"Neuropathology Unit, imas12 Research Institute, Hospital Universitario 12 de Octubre, Faculty of Medicine Complutense University of Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Gallano","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Joint Research Unit on Genomic Medicine Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Genetics Department Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Institute of Myology, Neuromuscular Morphology Unit and Neuromuscular Diseases Reference Center Nord\/Est\/Ile\u2010de\u2010France, Sorbonne Universit\u00e9, INSERM, GHU Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Department of Neuropathology Sorbonne University, APHP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montse","family":"Oliv\u00e9","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Neuromuscular Diseases Unit, Department of Neurology Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Dom\u00ednguez\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Neuromuscular Disorders Unit, Neurology Department imas12 Research Institute, Hospital Universitario 12 de Octubre  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG)  Barcelona Spain"},{"name":"Division of Neurology, Department of Medicine The Ottawa Hospital  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7871-8600","authenticated-orcid":false,"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders APHP Henri Mondor University Hospital  France"},{"name":"University Paris Est Cr\u00e9teil, Inserm, U955, IMRB  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"Neuropathology Unit, imas12 Research Institute, Hospital Universitario 12 de Octubre, Faculty of Medicine Complutense University of Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Neuromuscular Diseases Unit, Department of Neurology Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0715-6414","authenticated-orcid":false,"given":"Lidia","family":"Gonz\u00e1lez\u2010Quereda","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Pau (IR SANT PAU)  Barcelona Spain"},{"name":"Joint Research Unit on Genomic Medicine Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Genetics Department Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera\u2010de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Applied Research in Neuromuscular Diseases Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/humu\/9301465"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12663"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh408"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/22143602251345967"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00006-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww133"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24066"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.649"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12624"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51193"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.126946"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh153"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2006.05351.x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr239"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-018-0167-1"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.12.017"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-022-01073-3"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.14348\/molcells.2023.0003"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac272"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv090"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003819"},{"key":"e_1_2_9_23_1","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/nrm.2016.116","article-title":"Alternative polyadenylation of mRNA precursors","volume":"18","author":"Tian B","year":"2017","journal-title":"Nat Rev Mol Cell Biol"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105836"},{"key":"e_1_2_9_25_1","first-page":"70","article-title":"Functional interactions between microRNAs and RNA binding proteins","volume":"1","author":"Jiang P","year":"2012","journal-title":"MicroRNA Shariqah United Arab Emir"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-00302-y"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00006"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-025-01905-x"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0840-3"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01699-4"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkae1036"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.70078"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20573-7"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.10.014"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-023-00944-2"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btaa259"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.025"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.287"},{"key":"e_1_2_9_40_1","volume-title":"GeneReviews\u00ae","author":"Angelini C","year":"1993"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03012.x"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09539-y"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M600282200"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0455-22.2022"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2016.02.010"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.06.017"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24421"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.11.025"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.78381","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.78381","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.78381","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T11:33:01Z","timestamp":1792582381000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.78381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,21]]},"references-count":47,"alternative-id":["10.1002\/ana.78381"],"URL":"https:\/\/doi.org\/10.1002\/ana.78381","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,21]]},"assertion":[{"value":"2025-09-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ana.78381"}}