{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:12:43Z","timestamp":1790770363915,"version":"4.1.0"},"reference-count":27,"publisher":"Frontiers Media SA","content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2016.00072","type":"journal-article","created":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T03:06:24Z","timestamp":1463108784000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study"],"prefix":"10.3389","volume":"7","author":[{"given":"Rodi","family":"Zutt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joke M.","family":"Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Peall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Speelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmine E. M.","family":"Dreissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Fiorella","family":"Contarino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina A. J.","family":"Tijssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2016,5,13]]},"reference":[{"issue":"9","key":"B1","doi-asserted-by":"publisher","first-page":"1677","DOI":"10.1212\/01.wnl.0000242880.49051.1f","article-title":"Distal myoclonus and late onset in a large dutch family with myoclonus-dystonia","volume":"67","author":"Foncke","year":"2006","journal-title":"Neurology"},{"key":"B2","first-page":"113","article-title":"Inherited myoclonus-dystonia","volume":"94","author":"Asmus","year":"2004","journal-title":"Adv Neurol"},{"issue":"13","key":"B3","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1212\/01.wnl.0000297516.98574.c0","article-title":"Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations","volume":"70","author":"Roze","year":"2008","journal-title":"Neurology"},{"issue":"1","key":"B4","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/mds.21715","article-title":"Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families","volume":"23","author":"Nardocci","year":"2008","journal-title":"Mov Disord"},{"issue":"4","key":"B5","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1002\/mds.22425","article-title":"Myoclonus-dystonia: an update","volume":"24","author":"Kinugawa","year":"2009","journal-title":"Mov Disord"},{"issue":"4","key":"B6","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1002\/ana.10325","article-title":"Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype","volume":"52","author":"Asmus","year":"2002","journal-title":"Ann Neurol"},{"issue":"12","key":"B7","doi-asserted-by":"publisher","first-page":"2296","DOI":"10.1007\/s00415-014-7488-3","article-title":"SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype","volume":"261","author":"Peall","year":"2014","journal-title":"J Neurol"},{"issue":"5","key":"B8","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1002\/ana.10358","article-title":"Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations","volume":"52","author":"Klein","year":"2002","journal-title":"Ann Neurol"},{"key":"B9","first-page":"325","article-title":"Inherited myoclonus-dystonia syndrome","volume":"78","author":"Gasser","year":"1998","journal-title":"Adv Neurol"},{"issue":"2","key":"B10","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1097\/WNN.0b013e3181a7228f","article-title":"Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large dutch M-D family","volume":"22","author":"Foncke","year":"2009","journal-title":"Cogn Behav Neurol"},{"issue":"Pt 1","key":"B11","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1093\/brain\/aws308","article-title":"SGCE mutations cause psychiatric disorders: clinical and genetic characterization","volume":"136","author":"Peall","year":"2013","journal-title":"Brain"},{"issue":"8","key":"B12","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1136\/jnnp-2011-301386","article-title":"Cognition and psychopathology in myoclonus-dystonia","volume":"83","author":"van Tricht","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"B13","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1086\/344531","article-title":"Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia","volume":"71","author":"M\u00fcller","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"2","key":"B14","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1038\/sj.ejhg.5200938","article-title":"The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted","volume":"11","author":"Grabowski","year":"2003","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"B15","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome","volume":"29","author":"Zimprich","year":"2001","journal-title":"Nat Genet"},{"issue":"4","key":"B16","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1212\/01.WNL.0000151979.68010.9B","article-title":"The epsilon-sarcoglycan gene in myoclonic syndromes","volume":"64","author":"Valente","year":"2005","journal-title":"Neurology"},{"issue":"4","key":"B17","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1002\/mds.21785","article-title":"Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations","volume":"23","author":"Raymond","year":"2008","journal-title":"Mov Disord"},{"issue":"2","key":"B18","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/humu.9521","article-title":"Myoclonus-dystonia: significance of large SGCE deletions","volume":"29","author":"Gr\u00fcnewald","year":"2008","journal-title":"Hum Mutat"},{"issue":"5","key":"B19","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1136\/jmg.2005.036780","article-title":"Epsilon sarcoglycan mutations and phenotype in french patients with myoclonic syndromes","volume":"43","author":"Tezenas du Montcel","year":"2006","journal-title":"J Med Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1002\/mds.25506","article-title":"Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria","volume":"28","author":"Carecchio","year":"2013","journal-title":"Mov Disord"},{"issue":"5","key":"B21","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1212\/01.wnl.0000201192.66467.a3","article-title":"Phenotype-genotype correlation in dutch patients with myoclonus-dystonia","volume":"66","author":"Gerrits","year":"2006","journal-title":"Neurology"},{"issue":"1","key":"B22","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1212\/WNL.35.1.73","article-title":"Validity and reliability of a rating scale for the primary torsion dystonias","volume":"35","author":"Burke","year":"1985","journal-title":"Neurology"},{"issue":"6","key":"B23","first-page":"408","article-title":"Measuring agreement between 2 observers: a quantitative case","volume":"32","author":"Fermanian","year":"1984","journal-title":"Rev Epidemiol Sante Publique"},{"issue":"6","key":"B24","doi-asserted-by":"publisher","first-page":"938","DOI":"10.1016\/j.ajhg.2015.04.008","article-title":"A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia","volume":"96","author":"Mencacci","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"5","key":"B25","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1212\/WNL.0b013e318261714a","article-title":"Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency","volume":"79","author":"Stamelou","year":"2012","journal-title":"Neurology"},{"issue":"3","key":"B26","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1002\/mds.26070","article-title":"RELN rare variants in myoclonus-dystonia","volume":"30","author":"Groen","year":"2015","journal-title":"Mov Disord"},{"issue":"2","key":"B27","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1002\/mds.870110202","article-title":"Essential myoclonus and myoclonic dystonia","volume":"11","author":"Quinn","year":"1996","journal-title":"Mov Disord"}],"container-title":["Frontiers in Neurology"],"original-title":[],"deposited":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T17:01:29Z","timestamp":1466528489000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/Article\/10.3389\/fneur.2016.00072\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,13]]},"references-count":27,"URL":"https:\/\/doi.org\/10.3389\/fneur.2016.00072","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,13]]}}}