{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:36:05Z","timestamp":1781652965292,"version":"3.54.5"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Neurogenetics Department of the Cyprus Institute of Neurology and Genetics"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.jns.2020.117101","type":"journal-article","created":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T02:15:26Z","timestamp":1597716926000},"page":"117101","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia"],"prefix":"10.1016","volume":"418","author":[{"given":"Sakis","family":"Lambrianides","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paschalis","family":"Nicolaou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikaela","family":"Michaelidou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panos","family":"Kakouris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Votsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros P.","family":"Petrou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthi","family":"Drousiotou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Minaidou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Praxitelis","family":"Demetriou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costas","family":"Voulgaris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyproula","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George A.","family":"Tanteles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Pantzaris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2020.117101_bb0005","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajhg.2012.01.017","article-title":"Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease","author":"Quadri","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2020.117101_bb0010","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.neuro.2005.10.006","article-title":"The diagnosis of manganese-induced parkinsonism","volume":"27","author":"Cersosimo","year":"2006","journal-title":"Neurotoxicology."},{"key":"10.1016\/j.jns.2020.117101_bb0015","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajhg.2012.01.018","article-title":"Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man","author":"Tuschl","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2020.117101_bb0020","author":"OMIM Gene Map"},{"key":"10.1016\/j.jns.2020.117101_bb0025","doi-asserted-by":"crossref","DOI":"10.1002\/mds.26501","article-title":"The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27)","author":"Jochim","year":"2016","journal-title":"Mov. Disord."},{"key":"10.1016\/j.jns.2020.117101_bb0030","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s10545-008-0813-1","article-title":"Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia\u2014a new metabolic disorder","volume":"31","author":"Tuschl","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jns.2020.117101_bb0035","doi-asserted-by":"crossref","first-page":"14079","DOI":"10.1523\/JNEUROSCI.2329-14.2014","article-title":"SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity","volume":"34","author":"Leyva-Illades","year":"2014","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jns.2020.117101_bb0040","doi-asserted-by":"crossref","DOI":"10.1021\/acschemneuro.8b00451","article-title":"SLC30A10 mutation involved in parkinsonism results in manganese accumulation within Nanovesicles of the Golgi apparatus","author":"Carmona","year":"2019","journal-title":"ACS Chem. Neurosci."},{"key":"10.1016\/j.jns.2020.117101_bb0045","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.parkreldis.2006.09.002","article-title":"The natural history of neurological manganism over 18 years","volume":"13","author":"Huang","year":"2007","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.jns.2020.117101_bb0050","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.neuro.2006.08.005","article-title":"Brain magnetic resonance imaging and manganese concentrations in red blood cells of smelting workers: search for biomarkers of manganese exposure","volume":"28","author":"Jiang","year":"2007","journal-title":"Neurotoxicology."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X2030438X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X2030438X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:51:53Z","timestamp":1758383513000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X2030438X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":10,"alternative-id":["S0022510X2030438X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2020.117101","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2020.117101","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"117101"}}