{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:42:39Z","timestamp":1790422959037,"version":"4.1.0"},"reference-count":15,"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":[{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT, South Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014188","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":[[2020,11]]},"DOI":"10.1016\/j.parkreldis.2020.08.040","type":"journal-article","created":{"date-parts":[[2020,9,6]],"date-time":"2020-09-06T01:09:39Z","timestamp":1599354579000},"page":"58-64","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"special_numbering":"C","title":["Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications"],"prefix":"10.1016","volume":"80","author":[{"given":"Minkyeong","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah Reum","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Sun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jongkyu","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinyoung","family":"Youn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong Hyeon","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Kyu","family":"Mun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam-Soon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayoung K.D.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woong-Yang","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Whan","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2020.08.040_bib1","series-title":"GeneReviews\u00ae. Hereditary Ataxia Overview","author":"Bird Td","year":"1998"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib2","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1093\/brain\/awt236","article-title":"Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model","volume":"136","author":"Nemeth","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib3","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1001\/jamaneurol.2014.1944","article-title":"Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia","volume":"71","author":"Fogel","year":"2014","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib4","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/brain\/awu348","article-title":"Exome sequencing in undiagnosed inherited and sporadic ataxias","volume":"138","author":"Pyle","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib5","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1038\/ejhg.2016.42","article-title":"Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene\u2013disease associations and unanticipated rare disorders","volume":"24","author":"van de Warrenburg","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib6","doi-asserted-by":"crossref","first-page":"374","DOI":"10.3988\/jcn.2018.14.3.374","article-title":"The etiologies of chronic progressive cerebellar ataxia in a Korean population","volume":"14","author":"Kim","year":"2018","journal-title":"J. Clin. Neurol."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib7","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib8","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.2020.08.040_bib9","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.2020.08.040_bib10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib11","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/brain\/awx081","article-title":"A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies","volume":"140","author":"Coutelier","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2020.08.040_bib12","doi-asserted-by":"crossref","first-page":"7452","DOI":"10.1073\/pnas.94.14.7452","article-title":"Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and\u2009premutations","volume":"94","author":"Coss\u00e9e","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib13","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/mds.26944","article-title":"Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways","volume":"32","author":"Synofzik","year":"2017","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib14","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.ajhg.2009.09.019","article-title":"Spinocerebellar ataxia type 31 is associated with \"inserted\" penta-nucleotide repeats containing (TGGAA)n","volume":"85","author":"Sato","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2020.08.040_bib15","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1136\/jnnp-2014-309153","article-title":"Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion","volume":"86","author":"Obayashi","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020307148?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020307148?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:19:44Z","timestamp":1761178784000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802020307148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":15,"alternative-id":["S1353802020307148"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.08.040","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.08.040","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}