{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T11:07:05Z","timestamp":1778670425645,"version":"3.51.4"},"reference-count":9,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Ministry of Education and Research","award":["01GM1514B"],"award-info":[{"award-number":["01GM1514B"]}]},{"name":"Possehl-Stiftung"},{"name":"German Ministry of Education and Research","award":["01GM1514B"],"award-info":[{"award-number":["01GM1514B"]}]},{"name":"Possehl-Stiftung"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","jns-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1016\/j.jns.2018.11.024","type":"journal-article","created":{"date-parts":[[2018,11,22]],"date-time":"2018-11-22T10:27:03Z","timestamp":1542882423000},"page":"199-201","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia"],"prefix":"10.1016","volume":"396","author":[{"given":"Sinem","family":"Tunc","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Olschewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1014-1782","authenticated-orcid":false,"given":"Tobias","family":"B\u00e4umer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3219-2284","authenticated-orcid":false,"given":"Alexander","family":"M\u00fcnchau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davor","family":"Lessel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2018.11.024_bb0005","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.ajhg.2012.10.024","article-title":"Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis","volume":"91","author":"Charlesworth","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2018.11.024_bb0010","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/mds.26190","article-title":"Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families","volume":"30","author":"Ma","year":"2015","journal-title":"Mov. Disord."},{"key":"10.1016\/j.jns.2018.11.024_bb0015","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1002\/mds.26717","article-title":"Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia","volume":"31","author":"Miltgen","year":"2016","journal-title":"Mov. Disord."},{"key":"10.1016\/j.jns.2018.11.024_bb0020","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/mds.25715","article-title":"Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls","volume":"29","author":"Zech","year":"2014","journal-title":"Mov. Disord."},{"key":"10.1016\/j.jns.2018.11.024_bb0025","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s11910-017-0735-0","article-title":"Update on the Genetics of Dystonia","volume":"17","author":"Lohmann","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.jns.2018.11.024_bb0030","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.parkreldis.2018.02.012","article-title":"Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant","volume":"50","author":"Yoo","year":"2018","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.jns.2018.11.024_bb0035","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/mds.26808","article-title":"Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up","volume":"32","author":"Zech","year":"2017","journal-title":"Mov. Disord."},{"key":"10.1016\/j.jns.2018.11.024_bb0040","doi-asserted-by":"crossref","first-page":"C482","DOI":"10.1152\/ajpcell.00140.2011","article-title":"ANOs 3-7 in the anoctamin\/Tmem16 Cl- channel family are intracellular proteins","volume":"302","author":"Duran","year":"2012","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.jns.2018.11.024_bb0045","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.neuron.2009.03.027","article-title":"Functional and evolutionary insights into human brain development through global transcriptome analysis","volume":"62","author":"Johnson","year":"2009","journal-title":"Neuron"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X18304775?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X18304775?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T12:58:03Z","timestamp":1589979483000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X18304775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":9,"alternative-id":["S0022510X18304775"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2018.11.024","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2018.11.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}