{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:35:04Z","timestamp":1762079704689,"version":"build-2065373602"},"reference-count":8,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100008383","name":"Stichting ParkinsonFonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008383","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 & Related Disorders"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.parkreldis.2019.07.033","type":"journal-article","created":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T02:37:19Z","timestamp":1564540639000},"page":"228-231","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6242-6651","authenticated-orcid":false,"given":"Demy J.S.","family":"Kuipers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6989-8611","authenticated-orcid":false,"given":"Zeynep","family":"Tufekcioglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6032-0856","authenticated-orcid":false,"given":"Ba\u015far","family":"Bilgi\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Olgiati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjolein H.G.","family":"Dremmen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfred F.J.","family":"van IJcken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido J.","family":"Breedveld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia M.S.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ha\u015fmet A.","family":"Hanagasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Emre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Bonifati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2019.07.033_bib1","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.nbd.2011.03.003","article-title":"Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling","volume":"42","author":"Wasseff","year":"2011","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.parkreldis.2019.07.033_bib2","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.neulet.2017.05.037","article-title":"Diseases of connexins expressed in myelinating glia","volume":"695","author":"Abrams","year":"2019","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.parkreldis.2019.07.033_bib3","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awn328","article-title":"Hereditary spastic paraplegia is a novel phenotype for GJA12\/GJC2 mutations","volume":"132","author":"Orthmann-Murphy","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2019.07.033_bib4","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1007\/s00415-014-7429-1","article-title":"A new mutation in GJC2 associated with subclinical leukodystrophy","volume":"261","author":"Abrams","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.parkreldis.2019.07.033_bib5","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.parkreldis.2019.07.033_bib6","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1093\/bioinformatics\/btr613","article-title":"NARWHAL, a primary analysis pipeline for NGS data","volume":"28","author":"Brouwer","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.parkreldis.2019.07.033_bib7","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.parkreldis.2019.07.033_bib8","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1212\/WNL.0000000000001511","article-title":"Cortical pencil lining in neuroferritinopathy: a diagnostic clue","volume":"84","author":"Batla","year":"2015","journal-title":"Neurology"}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019303530?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019303530?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:17:27Z","timestamp":1761178647000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802019303530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":8,"alternative-id":["S1353802019303530"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.07.033","relation":{},"ISSN":["1353-8020"],"issn-type":[{"type":"print","value":"1353-8020"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.07.033","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}