{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:25:48Z","timestamp":1790288748873,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012247","name":"Program of Shanghai Academic Research Leader","doi-asserted-by":"publisher","award":["20XD1403400"],"award-info":[{"award-number":["20XD1403400"]}],"id":[{"id":"10.13039\/501100012247","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dystonia is a genetically and phenotypically heterogeneous disorder that occurs in isolation (isolated dystonia) or in combination with other movement disorders. To determine the genetic spectrum in isolated dystonia, we enrolled 88 patients with isolated dystonia for whole\u2010exome sequencing (WES). Seventeen mutations, including nine novel ones, were identified in 19 of the 88 patients, providing a 21.59% positive molecular diagnostic rate. Eleven distinct genes were involved, of which\n                    <jats:italic>TOR1A<\/jats:italic>\n                    and\n                    <jats:italic>THAP1<\/jats:italic>\n                    accounted for 47.37% (9\/19) of the positive cases. A novel missense variant, p.S225R in\n                    <jats:italic>TOR1A<\/jats:italic>\n                    , was found in a patient with adolescence\u2010onset generalized dystonia. Cellular experiments revealed that p.S255R results in the abnormal aggregation of Torsin\u20101A encoding by\n                    <jats:italic>TOR1A<\/jats:italic>\n                    . In addition, we reviewed the clinical and genetic features of the isolated dystonia patients carrying\n                    <jats:italic>TOR1A<\/jats:italic>\n                    ,\n                    <jats:italic>THAP1<\/jats:italic>\n                    ,\n                    <jats:italic>ANO3<\/jats:italic>\n                    , and\n                    <jats:italic>GNAL<\/jats:italic>\n                    mutations in the Chinese population. Our results expand the genetic spectrum and clinical profiles of patients with isolated dystonia and demonstrate WES as an effective strategy for the molecular diagnosis of isolated dystonia.\n                  <\/jats:p>","DOI":"10.1111\/cge.14298","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T07:34:48Z","timestamp":1673940888000},"page":"459-465","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia"],"prefix":"10.1111","volume":"103","author":[{"given":"Li\u2010Xi","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie\u2010Hong","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You\u2010Gui","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Long","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010Zhen","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling\u2010Jing","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tongji Hospital, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Neurology and Neurological Rehabilitation, Shanghai Yangzhi Rehabilitation Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25475"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0023-6"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28485"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13657"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30312-4"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29034"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.104851"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.21"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.006"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0220512"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04778-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2020.26148"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26808"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.04.005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25818"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2012.02.001"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.10.007"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.02.013"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14298","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T11:03:55Z","timestamp":1692356635000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,24]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1111\/cge.14298"],"URL":"https:\/\/doi.org\/10.1111\/cge.14298","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14298\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14298\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14298\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14298\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14298\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14298\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,24]]},"assertion":[{"value":"2022-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}