{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:48:26Z","timestamp":1793828906680,"version":"4.6.1"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001663","name":"VolkswagenStiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001663","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Parkinson Society"},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GA2031\/1-1"],"award-info":[{"award-number":["GA2031\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["GA2031\/1-2"],"award-info":[{"award-number":["GA2031\/1-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Werner Otto Stiftung"},{"DOI":"10.13039\/501100009128","name":"NIHR RfPB","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009128","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MRC Wellcome Strategic","award":["WT089698"],"award-info":[{"award-number":["WT089698"]}]},{"name":"PD UK","award":["G-1009"],"award-info":[{"award-number":["G-1009"]}]},{"DOI":"10.13039\/501100001663","name":"VolkswagenStiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.parkreldis.2019.09.020","type":"journal-article","created":{"date-parts":[[2019,9,17]],"date-time":"2019-09-17T11:23:07Z","timestamp":1568719387000},"page":"57-59","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"special_numbering":"C","title":["IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures"],"prefix":"10.1016","volume":"68","author":[{"given":"Christos","family":"Ganos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8016-1821","authenticated-orcid":false,"given":"Ute","family":"Hidding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Funke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2019.09.020_bib1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.parkreldis.2016.01.022","article-title":"The clinical syndrome of dystonia with anarthria\/aphonia","volume":"24","author":"Ganos","year":"2016","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2019.09.020_bib2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2018.07.006","article-title":"IRF2BPL is associated with neurological phenotypes","volume":"103","author":"Marcogliese","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2019.09.020_bib3","series-title":"Neurodevelopmental Disorder Associated with IRF2BPL Gene Mutation: Expanding the Phenotype? Parkinsonism Relat Disord","author":"Skorvanek","year":"2019"},{"key":"10.1016\/j.parkreldis.2019.09.020_bib4","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/s41436-018-0143-0","article-title":"De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy","volume":"21","author":"Tran Mau-Them","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.parkreldis.2019.09.020_bib5","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.parkreldis.2013.11.011","article-title":"Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?","volume":"20","author":"Ganos","year":"2014","journal-title":"Park. Relat. Disord."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019303979?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019303979?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T02:14:27Z","timestamp":1576289667000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802019303979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":5,"alternative-id":["S1353802019303979"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.09.020","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.09.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}