{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:04:56Z","timestamp":1790485496781,"version":"4.1.0"},"reference-count":5,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"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":[[2017,8]]},"DOI":"10.1016\/j.jns.2017.06.034","type":"journal-article","created":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T19:45:43Z","timestamp":1498160743000},"page":"296-297","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"special_numbering":"C","title":["Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease"],"prefix":"10.1016","volume":"379","author":[{"given":"Matthias","family":"Rath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Christoph","family":"Korenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Najm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Hagendorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Felbor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.jns.2017.06.034_bb0005","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1056\/NEJMoa1207281","article-title":"Brain dopamine-serotonin vesicular transport disease and its treatment","volume":"368","author":"Rilstone","year":"2013","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.jns.2017.06.034_bb0010","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s10545-015-9897-6","article-title":"Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder","volume":"39","author":"Jacobsen","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2\u20133","key":"10.1016\/j.jns.2017.06.034_bb0015","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S1090-3798(97)80065-7","article-title":"Aromatic l-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises","volume":"1","author":"Korenke","year":"1997","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"8","key":"10.1016\/j.jns.2017.06.034_bb0020","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","article-title":"The monoamine neurotransmitter disorders: an expanding range of neurological syndromes","volume":"10","author":"Kurian","year":"2011","journal-title":"Lancet Neurol."},{"issue":"10","key":"10.1016\/j.jns.2017.06.034_bb0025","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/nrneurol.2015.172","article-title":"Monoamine neurotransmitter disorders-clinical advances and future perspectives","volume":"11","author":"Ng","year":"2015","journal-title":"Nat. Rev. Neurol."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17304082?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17304082?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T09:50:02Z","timestamp":1535709002000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X17304082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":5,"alternative-id":["S0022510X17304082"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2017.06.034","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2017.06.034","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}