{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:48:25Z","timestamp":1793828905210,"version":"4.6.1"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001316","name":"Abbott Laboratories","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001316","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["FKZ 01ZX1405C"],"award-info":[{"award-number":["FKZ 01ZX1405C"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002429","name":"Amgen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002429","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013116","name":"Merz Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017519","name":"Werner Otto Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017519","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006775","name":"GE Healthcare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006775","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004320","name":"Philips","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","prd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1016\/j.parkreldis.2020.03.030","type":"journal-article","created":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T02:06:58Z","timestamp":1586398018000},"page":"141-143","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"special_numbering":"C","title":["IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus"],"prefix":"10.1016","volume":"79","author":[{"given":"Lisa","family":"Prilop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Buchert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Woerz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gerloff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.parkreldis.2020.03.030_bib1","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."},{"issue":"4","key":"10.1016\/j.parkreldis.2020.03.030_bib2","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.2020.03.030_bib3","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.parkreldis.2019.09.020","article-title":"IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures","volume":"68","author":"Ganos","year":"2019","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2020.03.030_bib4","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.parkreldis.2019.01.017","article-title":"Neurodevelopmental disorder associated with IRF2BPL gene mutation: expanding the phenotype?","volume":"62","author":"Skorvanek","year":"2019","journal-title":"Park. Relat. Disord."},{"issue":"9","key":"10.1016\/j.parkreldis.2020.03.030_bib5","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.parkreldis.2013.05.005","article-title":"Nigral involvement and nigrostriatal dysfunction in Huntington's disease: evidences from an MRI and SPECT study","volume":"19","author":"Kiferle","year":"2013","journal-title":"Park. Relat. Disord."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020300948?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020300948?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T08:47:50Z","timestamp":1774860470000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802020300948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":5,"alternative-id":["S1353802020300948"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.03.030","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.03.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}