{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:43:04Z","timestamp":1759624984605,"version":"build-2065373602"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience Letters"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1016\/j.neulet.2019.03.003","type":"journal-article","created":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T02:13:57Z","timestamp":1551752037000},"page":"1-4","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome"],"prefix":"10.1016","volume":"703","author":[{"given":"Laila","family":"Rachad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hicham","family":"El Otmani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7025-299X","authenticated-orcid":false,"given":"Adnane","family":"Karkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bouchra","family":"El Moutawakil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"El Kadmiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sellama","family":"Nadifi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neulet.2019.03.003_bib0005","unstructured":"H. Sarva, J. Miravite, M.C. Swan, A. Deik, D. Raymond, W.L. Severt, B.H. Kopell, A Case of Myoclonus\u2013Dystonia Responding to Low-frequency Pallidal Stimulation, (n.d.) 3."},{"key":"10.1016\/j.neulet.2019.03.003_bib0010","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1007\/s12035-016-9712-x","article-title":"Genetic aspects of myoclonus\u2013dystonia syndrome (MDS)","volume":"54","author":"Rachad","year":"2017","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.neulet.2019.03.003_bib0015","doi-asserted-by":"crossref","DOI":"10.14744\/nci.2014.28247","article-title":"Myoclonus-dystonia syndrome: case report","volume":"1","author":"Oguz Akarsu","year":"2015","journal-title":"North Clin. Istanb."},{"key":"10.1016\/j.neulet.2019.03.003_bib0020","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1093\/brain\/90.3.669","article-title":"Hereditary essential myoclonus","volume":"90","author":"Mahloudji","year":"1967","journal-title":"Brain J. Neurol."},{"key":"10.1016\/j.neulet.2019.03.003_bib0025","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.parkreldis.2017.06.014","article-title":"Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation","volume":"42","author":"Kim","year":"2017","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neulet.2019.03.003_bib0030","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1212\/01.wnl.0000253188.76092.06","article-title":"Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers","volume":"68","author":"Hess","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2019.03.003_bib0035","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding \u03b5-sarcoglycan cause myoclonus\u2013dystonia syndrome","volume":"29","author":"Zimprich","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neulet.2019.03.003_bib0040","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1136\/jnnp.2003.027177","article-title":"Genetic heterogeneity in ten families with myoclonus-dystonia","volume":"75","author":"Schule","year":"2004","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neulet.2019.03.003_bib0045","doi-asserted-by":"crossref","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":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neulet.2019.03.003_bib0050","doi-asserted-by":"crossref","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: reappraisal of SGCE genetic testing criteria","volume":"28","author":"Carecchio","year":"2013","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neulet.2019.03.003_bib0055","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1136\/jnnp.2008.162099","article-title":"Myoclonus-dystonia: clinical and genetic evaluation of a large cohort, J. Neurol","volume":"80","author":"Ritz","year":"2009","journal-title":"Neurosurg. Psychiatry"},{"key":"10.1016\/j.neulet.2019.03.003_bib0060","doi-asserted-by":"crossref","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."},{"key":"10.1016\/j.neulet.2019.03.003_bib0065","unstructured":"H. Yan, X. Guan, L. Wang, J. Tan, G. Wang, Y. An, Y. Zhang, A point mutation in \u03b5-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family, (n.d.) 5."},{"key":"10.1016\/j.neulet.2019.03.003_bib0070","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/ejhg.2010.206","article-title":"SGCE isoform characterization and expression in human brain: implications for myoclonus\u2013dystonia pathogenesis?","volume":"19","author":"Ritz","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2019.03.003_bib0075","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/ana.10325","article-title":"Myoclonus-dystonia syndrome: \u03b5-sarcoglycan mutations and phenotype: SGCE in Myoclonus-Dystonia","volume":"52","author":"Asmus","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neulet.2019.03.003_bib0080","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ejpn.2005.05.002","article-title":"Dystonia (DYT) genetic loci","volume":"9","author":"Bhidayasiri","year":"2005","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.neulet.2019.03.003_bib0085","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1002\/mds.26738","article-title":"Myoclonus dystonia and muscular dystrophy: \u03b5-sarcoglycan is part of the dystrophin-associated protein complex in brain: brain sarcoglycan complex","volume":"31","author":"Waite","year":"2016","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neulet.2019.03.003_bib0090","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/hmg\/ddl472","article-title":"SGCE missense mutations that cause myoclonus-dystonia syndrome impair \u03b5-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA","volume":"16","author":"Esapa","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neulet.2019.03.003_bib0095","first-page":"9","article-title":"Evidence that paternal expression of the e-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia","author":"Genet","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2019.03.003_bib0100","doi-asserted-by":"crossref","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."},{"key":"10.1016\/j.neulet.2019.03.003_bib0105","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1212\/WNL.59.8.1183","article-title":"A novel locus for inherited myoclonus-dystonia on 18p11","volume":"59","author":"Grimes","year":"2002","journal-title":"Neurology"}],"container-title":["Neuroscience Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394019301491?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394019301491?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T20:24:54Z","timestamp":1759609494000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304394019301491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":21,"alternative-id":["S0304394019301491"],"URL":"https:\/\/doi.org\/10.1016\/j.neulet.2019.03.003","relation":{},"ISSN":["0304-3940"],"issn-type":[{"type":"print","value":"0304-3940"}],"subject":[],"published":{"date-parts":[[2019,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome","name":"articletitle","label":"Article Title"},{"value":"Neuroscience Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neulet.2019.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}