{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T05:48:49Z","timestamp":1788241729241,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2010,10,5]],"date-time":"2010-10-05T00:00:00Z","timestamp":1286236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001595","name":"Dystonia Medical Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001595","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001477","name":"Bachmann-Strauss Dystonia and Parkinson Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001477","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["NS26636, LJO"],"award-info":[{"award-number":["NS26636, LJO"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2010,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>TOR1A<\/jats:italic> and <jats:italic>THAP1<\/jats:italic> genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the <jats:italic>TOR1A<\/jats:italic> gene in a patient with a typical DYT1 phenotype and a novel c.1A &gt; G (p.Met1?) mutation in <jats:italic>THAP1<\/jats:italic> in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, <jats:italic>TOR1A<\/jats:italic> and <jats:italic>THAP1<\/jats:italic>, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23133","type":"journal-article","created":{"date-parts":[[2010,10,5]],"date-time":"2010-10-05T10:18:25Z","timestamp":1286273905000},"page":"2854-2857","source":"Crossref","is-referenced-by-count":20,"title":["Screening of Brazilian families with primary dystonia reveals a novel <i>THAP1<\/i> mutation and a de novo <i>TOR1A<\/i> GAG deletion"],"prefix":"10.1002","volume":"25","author":[{"given":"Patricia","family":"De Carvalho Aguiar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanderci","family":"Borges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay\u2010Marie","family":"Lamar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia Maria Azevedo","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrique Ballalai","family":"Ferraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie","family":"Ozelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,10,5]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.304"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22861"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22849"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31887"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.9.1746"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1133"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200782"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-1078-0"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1058"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70081-X"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70083-3"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(02)00013-0"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23133","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23133","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:26:54Z","timestamp":1760952414000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,5]]},"references-count":13,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2010,12,15]]}},"alternative-id":["10.1002\/mds.23133"],"URL":"https:\/\/doi.org\/10.1002\/mds.23133","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,5]]}}}