{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:40:52Z","timestamp":1761007252956,"version":"build-2065373602"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,3,3]],"date-time":"2009-03-03T00:00:00Z","timestamp":1236038400000},"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":[[2009,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22407","type":"journal-article","created":{"date-parts":[[2009,3,3]],"date-time":"2009-03-03T17:45:30Z","timestamp":1236102330000},"page":"919-921","source":"Crossref","is-referenced-by-count":13,"title":["The p.Asp216His <i>TOR1A<\/i> allele effect is not found in the French population"],"prefix":"10.1002","volume":"24","author":[{"given":"M\u00e9lissa Yana","family":"Fr\u00e9d\u00e9ric","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Clot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnaud","family":"Blanchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire\u2010Marie","family":"Dhaenens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ga\u00ebtan","family":"Lesca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Cif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"D\u00fcrr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Sablonniere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Calender","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Molinari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireille","family":"Claustres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Tuffery\u2010Giraud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwena\u00eblle","family":"Collod\u2010Beroud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,3]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/518427"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl055"},{"key":"e_1_2_4_4_2","first-page":"61","article-title":"TorsinA and DYT1 early\u2010onset dystonia","volume":"3","author":"Kamm C","year":"2008","journal-title":"Future Med"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0123-7"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21391"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000313838.05734.8a"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:25:56Z","timestamp":1760963156000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,3]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,4,30]]}},"alternative-id":["10.1002\/mds.22407"],"URL":"https:\/\/doi.org\/10.1002\/mds.22407","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2009,3,3]]}}}