{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T19:37:02Z","timestamp":1783625822584,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"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"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Genomic sequencing leaves &gt;50% of dystonia\u2010affected individuals without a diagnosis. Where DNA\u2010oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA\u2010seq) data from 167 patients with dystonia across a range of ages and presentations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We leveraged an RNA\u2010seq analysis pipeline, focused on the identification of expression and splicing aberrations, on RNA\u2010seq from skin biopsies. The recruited patients had early\u2010onset dystonia in 85.0%, non\u2010focal dystonia in 92.2%, and coexisting features in 76.0%. Thirty\u2010six patient samples with pre\u2010identified variants (36\/167, 21.6%) and 131 samples with no previously prioritized diagnostic candidates from genomic sequencing (131\/167, 78.4%) were evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found that &gt;80% of dystonia\u2010associated genes were detected by fibroblast RNA\u2010seq. Expression and splicing aberration analyses produced a manageable number of significant RNA defects affecting dystonia\u2010associated genes. The approach was especially successful in validating pathogenic effects of loss\u2010of\u2010function variants, with disease\u2010relevant RNA\u2010underexpression detected for 66.7% (10\/15). Studying aberrant expression and splicing in the context of other pre\u2010identified variant types yielded relevant results in 28.6% (6\/21 samples). We obtained a 6.9% (9\/131) diagnostic uplift for patients without prior candidates, all of whom exhibited combined dystonia with autosomal recessive inheritance. The new diagnoses from RNA\u2010seq and genomic reanalysis were based on previously neglected splice\u2010region (3\/9) and deep(er) intronic (6\/9) variants. For the observed events, integration of new machine\u2010learning scores predicted corresponding aberrant gene expression in the brain.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Fibroblast\u2010based RNA\u2010seq in our selected cohort improved variant interpretation and offered a modest yield in patients without prior candidate variants. ANN NEUROL 2026;99:1363\u20131378<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.78171","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T10:02:46Z","timestamp":1770026566000},"page":"1363-1378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort"],"prefix":"10.1002","volume":"99","author":[{"given":"Alice","family":"Saparov","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"},{"name":"Helmholtz Association \u2010 Munich School for Data Science (MUDS)  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Dzinovic","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente A.","family":"Y\u00e9pez","sequence":"additional","affiliation":[{"name":"School of Computation, Information and Technology Technical University of Munich  Garching Germany"},{"name":"OmicsDiscoveries GmbH  Planegg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"H\u00f6lzlwimmer","sequence":"additional","affiliation":[{"name":"School of Computation, Information and Technology Technical University of Munich  Garching Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8630","authenticated-orcid":false,"given":"Elisabetta","family":"Indelicato","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Assmann","sequence":"additional","affiliation":[{"name":"Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Badmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Ballhausen","sequence":"additional","affiliation":[{"name":"Pediatric Metabolic Unit, Pediatrics, Woman\u2010Mother\u2010Child Department Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Berweck","sequence":"additional","affiliation":[{"name":"Center of Child Neurology, Developmental Medicine, and Rehabilitation Children's Hospital of Eastern Switzerland  St. Gallen Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Brechtmann","sequence":"additional","affiliation":[{"name":"School of Computation, Information and Technology Technical University of Munich  Garching Germany"},{"name":"OmicsDiscoveries GmbH  Planegg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6920-8550","authenticated-orcid":false,"given":"Melanie","family":"Brugger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevork","family":"Derderian","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Departments of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital D\u00fcsseldorf Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Harrer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisa","family":"Harvanova","sequence":"additional","affiliation":[{"name":"Associated Tissue Bank, Faculty of Medicine, P. J. Safarik University and L. Pasteur University Hospital in Kosice  Kosice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7731-5129","authenticated-orcid":false,"given":"Petra","family":"Havrankova","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Faculty of Medicine and General University Hospital in Prague Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann\u2010Kathrin","family":"Jaroszynski","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Kolnikova","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Comenius University, University Hospital Bratislava and National Institute of Children's Diseases  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Koy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne University of Cologne  Cologne Germany"},{"name":"Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Krygier","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Kunc","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Faculty of Medicine and General University Hospital in Prague Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-313X","authenticated-orcid":false,"given":"Katarina","family":"Kusikova","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Comenius University, University Hospital Bratislava and National Institute of Children's Diseases  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Maier","sequence":"additional","affiliation":[{"name":"Center of Child Neurology, Developmental Medicine, and Rehabilitation Children's Hospital of Eastern Switzerland  St. Gallen Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Mazurkiewicz\u2010Be\u0142dzi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Mertes","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"},{"name":"School of Computation, Information and Technology Technical University of Munich  Garching Germany"},{"name":"OmicsDiscoveries GmbH  Planegg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ava","family":"Oberlack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo","family":"Roser","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital Ludwig\u2010Maximilians\u2010Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Sitzberger","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital Ludwig\u2010Maximilians\u2010Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia M.","family":"Stehr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital Ludwig\u2010Maximilians\u2010Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"},{"name":"Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital Ludwig\u2010Maximilians\u2010Universit\u00e4t  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[{"name":"Center for Rare Movement Disorders Innsbruck, Department of Neurology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Necpal","sequence":"additional","affiliation":[{"name":"Department of Neurology Zvolen Hospital  Zvolen Slovakia"},{"name":"Parkinsonism and Movement Disorders Treatment Center Zvolen Hospital  Zvolen Slovakia"},{"name":"Department of Neurology P.J. Safarik University  Kosice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Jech","sequence":"additional","affiliation":[{"name":"Department of Neurology, First Faculty of Medicine and General University Hospital in Prague Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"},{"name":"DZPG, Deutsches Zentrum F\u00fcr Psychische Gesundheit  Munich Germany"},{"name":"Munich Cluster for Systems Neurology, SyNergy  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Gagneur","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Helmholtz Association \u2010 Munich School for Data Science (MUDS)  Munich Germany"},{"name":"School of Computation, Information and Technology Technical University of Munich  Garching Germany"},{"name":"Computational Health Center, Helmholtz Center Munich  Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"Skorvanek","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovakia"},{"name":"Department of Clinical Neurosciences P.J. Safarik University  Kosice Slovakia"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8112-9153","authenticated-orcid":false,"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Bavarian Genomes Network for Rare Disorders Technical University of Munich  Munich Germany"},{"name":"Institute for Advanced Study Technical University of Munich  Garching Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathmechdis-051122-110756"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30312-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaf059"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aal5209"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2021.647277"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2025.02.006"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15824"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI141500"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0672-1"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-022-01019-9"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.12.015"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.18279"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-020-00462-5"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30220"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28614"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24416"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-025-00493-5"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki033"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-024-03420-w"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26651"},{"key":"e_1_2_9_24_1","volume-title":"GeneReviews((R))","author":"Klein C","year":"1993"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.irn.2023.04.009"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.025"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.10.014"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-58210-w"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25879"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(24)00526-X"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30209"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29562"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26544"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.27272"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-021-01201-x"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-023-00909-9"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.27277"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12144"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.78171","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.78171","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.78171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T05:24:24Z","timestamp":1779773064000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.78171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,2]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ana.78171"],"URL":"https:\/\/doi.org\/10.1002\/ana.78171","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,2]]},"assertion":[{"value":"2025-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}