{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:27:27Z","timestamp":1790699247462,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,1,9]],"date-time":"2014-01-09T00:00:00Z","timestamp":1389225600000},"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":[[2014,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>GNAL<\/jats:italic> mutations have been shown to cause adult\u2010onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To test the frequency of <jats:italic>GNAL<\/jats:italic> mutations in a series of 137 German patients with sporadic dystonia patients we used next\u2010generation sequencing of amplicon\u2010derived barcoded NexteraXT libraries for the coding exons and adjacent intronic sequences of <jats:italic>GNAL<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our cohort we identified 1 pathogenic nonsense mutation (c.733C&gt;T, p.R245*) in a patient with cervical dystonia. In a second patient a synonymous coding nonsynonymous variant (c.G252A, p.E84E) was detected, which is predicted to alter a splice site.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings further support <jats:italic>GNAL<\/jats:italic> as causative gene in adult\u2010onset isolated dystonia. \u00a9 2014 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25794","type":"journal-article","created":{"date-parts":[[2014,1,9]],"date-time":"2014-01-09T16:39:14Z","timestamp":1389285554000},"page":"1193-1196","source":"Crossref","is-referenced-by-count":22,"title":["Screening of mutations in <i>GNAL<\/i> in sporadic dystonia patients"],"prefix":"10.1002","volume":"29","author":[{"given":"Claudia","family":"Dufke","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Sturm","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Schroeder","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Moll","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"},{"name":"Transgenic Facility Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ott","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"},{"name":"Transgenic Facility Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Grundmann","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25475"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70232-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23547"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.024"},{"key":"e_1_2_7_7_1","article-title":"Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene","author":"Lohmann 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