{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:06:09Z","timestamp":1791011169027,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2291,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, the mutation causing early\u2010onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate\u2013binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.<\/jats:p>","DOI":"10.1002\/ana.410440119","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:17:07Z","timestamp":1104592627000},"page":"126-128","source":"Crossref","is-referenced-by-count":91,"title":["Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset"],"prefix":"10.1002","volume":"44","author":[{"given":"T.","family":"Gasser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Windgassen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bereznai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kabus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. C.","family":"Ludolph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"332","volume-title":"Movement Disorders 2","author":"Fahn S","year":"1987"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1992.tb00707.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-152"},{"key":"e_1_2_1_5_2","first-page":"366","article-title":"Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews: torsion dystonia genes in two populatons confined to a small region on chromosome 9q32\u201034","volume":"49","author":"Ozelius LJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420421"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1673"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_1_9_2","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_2","first-page":"468","article-title":"The DYT1 gene on 9q34 is responsible for most cases of early limb\u2010onset idiopathic torsion dystonia in non\u2010Jews","volume":"55","author":"Kramer PL","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360514"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410440119","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410440119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T15:40:53Z","timestamp":1698507653000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410440119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1998,7]]}},"alternative-id":["10.1002\/ana.410440119"],"URL":"https:\/\/doi.org\/10.1002\/ana.410440119","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,7]]}}}