{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:37:07Z","timestamp":1786995427346,"version":"build-2736575974"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1016\/j.parkreldis.2016.07.005","type":"journal-article","created":{"date-parts":[[2016,7,16]],"date-time":"2016-07-16T20:40:08Z","timestamp":1468701608000},"page":"148-150","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant"],"prefix":"10.1016","volume":"31","author":[{"given":"Max","family":"G\u00fcldner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Schulte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann-Kathrin","family":"Hauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Gasser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Brockmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2016.07.005_bib1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ajhg.2010.01.011","article-title":"Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly","volume":"86","author":"Giannandrea","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2016.07.005_bib2","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/j.ajhg.2014.10.015","article-title":"Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology","volume":"95","author":"Wilson","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2016.07.005_bib3","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13024-015-0045-4","article-title":"The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease","volume":"10","author":"Mata","year":"2015","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.parkreldis.2016.07.005_bib4","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.15252\/embj.201593350","article-title":"Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death","volume":"35","author":"Sellier","year":"2016","journal-title":"EMBO J."},{"key":"10.1016\/j.parkreldis.2016.07.005_bib5","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.mito.2011.08.003","article-title":"Biochemical analysis of the G517V POLG variant reveals wild-type like activity","volume":"11","author":"Kasiviswanathan","year":"2011","journal-title":"Mitochondrion"}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802016302620?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802016302620?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,10]],"date-time":"2018-09-10T09:26:54Z","timestamp":1536571614000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802016302620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":5,"alternative-id":["S1353802016302620"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2016.07.005","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2016.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}