{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T09:00:21Z","timestamp":1792054821787,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2010,7,28]],"date-time":"2010-07-28T00:00:00Z","timestamp":1280275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2010,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Polymorphisms in the TOR1A\/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23225","type":"journal-article","created":{"date-parts":[[2010,7,28]],"date-time":"2010-07-28T16:36:23Z","timestamp":1280334983000},"page":"2183-2187","source":"Crossref","is-referenced-by-count":24,"title":["Genetic evidence for an association of the TOR1A locus with segmental\/focal dystonia"],"prefix":"10.1002","volume":"25","author":[{"given":"Nutan","family":"Sharma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Ramon A.","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John K.","family":"Kuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele A.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Saunders\u2010Pullman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell F.","family":"Brin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Blitzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan B.","family":"Bressman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,7,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870030302"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150070094"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.3.398"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.51.6.767"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130406"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1981.00510030041005"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.3.461"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290315"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870060206"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1159\/000116969"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120625"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080413"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1673"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400421"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh093"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20438"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/323472"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20485"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000203344.43342.18"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000090560.20641.AB"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21182"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000244423.63406.17"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl055"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1086\/518427"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000313838.05734.8a"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22407"},{"key":"e_1_2_6_29_2","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1212\/WNL.0b013e3181a1861e","article-title":"The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?","volume":"72","author":"Bruggemann N","journal-title":"Neurology"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22471"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23225","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23225","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:54:00Z","timestamp":1760957640000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,28]]},"references-count":31,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2010,10,15]]}},"alternative-id":["10.1002\/mds.23225"],"URL":"https:\/\/doi.org\/10.1002\/mds.23225","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,28]]}}}