{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:19:50Z","timestamp":1791825590734,"version":"4.3.4"},"reference-count":37,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T00:00:00Z","timestamp":1750204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["407495230"],"award-info":[{"award-number":["407495230"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["423957469"],"award-info":[{"award-number":["423957469"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EXC 2167\u2010390884018"],"award-info":[{"award-number":["EXC 2167\u2010390884018"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["LO1555\/10\u20101"],"award-info":[{"award-number":["LO1555\/10\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS067501"],"award-info":[{"award-number":["NS067501"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS116025"],"award-info":[{"award-number":["NS116025"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["TR001456"],"award-info":[{"award-number":["TR001456"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Exome sequencing was conducted on 1924 genetically unsolved, mainly late\u2010onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 137 distinct likely pathogenic\/pathogenic variants (according to ACMG criteria) across 51 genes in 163\/1924 patients, including 153\/1895 index patients (diagnostic yield 8.1%). The strongest predictors of a genetic diagnosis were generalized dystonia (28.6% yield) and age at onset (20.4% yield in patients with onset &lt;\u200930\u2009years). Notably, 56.2% of these variants were novel, with recurrent variants in\n                      <jats:italic>EIF2AK2<\/jats:italic>\n                      ,\n                      <jats:italic>VPS16<\/jats:italic>\n                      ,\n                      <jats:italic>KCNMA1<\/jats:italic>\n                      , and\n                      <jats:italic>SLC2A1<\/jats:italic>\n                      . Additionally, 321 index patients (16.9%) harbored variants of uncertain significance in 102 genes. The most frequently implicated genes included\n                      <jats:italic>VPS16<\/jats:italic>\n                      ,\n                      <jats:italic>THAP1<\/jats:italic>\n                      ,\n                      <jats:italic>GCH1<\/jats:italic>\n                      ,\n                      <jats:italic>SGCE<\/jats:italic>\n                      ,\n                      <jats:italic>GNAL<\/jats:italic>\n                      , and\n                      <jats:italic>KMT2B.<\/jats:italic>\n                      Presumably pathogenic variants in less well\u2010established dystonia genes were also found, including\n                      <jats:italic>KCNMA1<\/jats:italic>\n                      ,\n                      <jats:italic>KIF1A<\/jats:italic>\n                      , and\n                      <jats:italic>ZMYND11.<\/jats:italic>\n                      At least six variants (in\n                      <jats:italic>ADCY5<\/jats:italic>\n                      ,\n                      <jats:italic>GNB1<\/jats:italic>\n                      ,\n                      <jats:italic>IR2BPL, KCNN2<\/jats:italic>\n                      ,\n                      <jats:italic>KMT2B<\/jats:italic>\n                      , and\n                      <jats:italic>VPS16<\/jats:italic>\n                      ) occurred de novo, supporting pathogenicity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This study provides valuable insights into the genetic landscape of dystonia, underscores the utility of exome sequencing for diagnosis, substantiates several candidate genes, and expands the phenotypic spectrum of some genes to include prominent, sometimes isolated dystonia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70100","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:39:29Z","timestamp":1750293569000},"page":"1648-1659","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large\u2010Scale Exome Sequencing"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1148-5493","authenticated-orcid":false,"given":"Mirja","family":"Thomsen","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Ott","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Loens","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gamze","family":"Kilic\u2010Berkmen","sequence":"additional","affiliation":[{"name":"Department of Neurology Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2979-3839","authenticated-orcid":false,"given":"Ai Huey","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine Faculty of Medicine, University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shen\u2010Yang","family":"Lim","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine Faculty of Medicine, University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebba","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Hertie Institute for Clinical Brain Research, University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE)  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaja M.","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Ipsen","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena A.","family":"Nothacker","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linn","family":"Welzel","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra S.","family":"Rudnik","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frauke","family":"Hinrichs","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Odorfer","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten E.","family":"Zeuner","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Schleswig\u2010Holstein, Campus Kiel  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"Schumann","sequence":"additional","affiliation":[{"name":"Department of Neurology Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea A.","family":"K\u00fchn","sequence":"additional","affiliation":[{"name":"Department of Neurology Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Moeller","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Pfister","sequence":"additional","affiliation":[{"name":"Neurological Practice  Neus\u00e4\u00df Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kamm","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, the Rossy PSP Centre and Department of Medicine (Neurology), Toronto Western Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Wen","family":"Tay","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine Faculty of Medicine, University of Malaya  Kuala Lumpur Malaysia"},{"name":"Department of Biomedical Science Faculty of Medicine, University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3291-7222","authenticated-orcid":false,"given":"Ana Lu\u00edsa","family":"de Almeida Marcelino","sequence":"additional","affiliation":[{"name":"Department of Neurology Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP\u2010HP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP\u2010HP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel S.","family":"Perlmutter","sequence":"additional","affiliation":[{"name":"Departments of Neurology, Radiology and Neuroscience Washington University  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne S.","family":"Feuerstein","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor S. C.","family":"Fung","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology Westmead Hospital &amp; Sydney Medical School, University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Chang","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology Westmead Hospital &amp; Sydney Medical School, University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Barbano","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Bellows","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine Department of Neurology  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aparna A.","family":"Wagle Shukla","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3389-136X","authenticated-orcid":false,"given":"Alberto J.","family":"Espay","sequence":"additional","affiliation":[{"name":"James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"LeDoux","sequence":"additional","affiliation":[{"name":"Department of Psychology University of Memphis, Veracity Neuroscience LLC  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0602-9942","authenticated-orcid":false,"given":"Brian D.","family":"Berman","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Reich","sequence":"additional","affiliation":[{"name":"Neurology University of Maryland School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Deik","sequence":"additional","affiliation":[{"name":"Department of Neurology Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Franke","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology Christian\u2010Albrechts\u2010Universit\u00e4t and University Hospital Schleswig\u2010Holstein, Campus Kiel  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wittig","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology Christian\u2010Albrechts\u2010Universit\u00e4t and University Hospital Schleswig\u2010Holstein, Campus Kiel  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f6ren","family":"Franzenburg","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology Christian\u2010Albrechts\u2010Universit\u00e4t and University Hospital Schleswig\u2010Holstein, Campus Kiel  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Volkmann","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Department of Neurology University Hospital Schleswig\u2010Holstein, Campus L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. A.","family":"Jinnah","sequence":"additional","affiliation":[{"name":"Department of Neurology Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"B\u00e4umer","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hauke","family":"Busch","sequence":"additional","affiliation":[{"name":"Medical Systems Biology Division, Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25475"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290315"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt138"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(20)30312\u20104"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2023.105814"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13657"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28982"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910\u2010021\u201001095\u20101"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102022\u2010109099"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010pathmechdis\u2010051122\u2010110756"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28485"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29327"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.07.026"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab360"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2018.12.030"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29693"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_10_21_1","unstructured":"MDSGene \u201cMDSGene \u201dhttps:\/\/www.mdsgene.org\/."},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.105239"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28614"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.02.015"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl276"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12211"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1080\/19336950.2021.1938852"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12368"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.639994"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjno\u20102024\u2010000710"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010024\u201007592\u20108"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa346"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14228"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23798"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28701"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27982"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2024.107010"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010024\u201003420\u2010w"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70100","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T04:02:42Z","timestamp":1755057762000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,18]]},"references-count":37,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/acn3.70100"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70100","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.12.02.24316741","asserted-by":"object"}]},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,18]]},"assertion":[{"value":"2025-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}