{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:34:11Z","timestamp":1791596051908,"version":"4.3.4"},"reference-count":5,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.ejmg.2018.01.002","type":"journal-article","created":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T13:44:58Z","timestamp":1515073498000},"page":"273-279","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9622-5268","authenticated-orcid":false,"given":"Mohamed","family":"Wafik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Lester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Gibbons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Shears","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.01.002_bib2","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1038\/nature11923","article-title":"CLP1 links tRNA metabolism to progressive motor-neuron loss","volume":"495","author":"Hanada","year":"2013","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ejmg.2018.01.002_bib3","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.cell.2014.02.058","article-title":"Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function","volume":"157","author":"Karaca","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2018.01.002_bib4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/S0092-8674(04)00342-3","article-title":"Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3\u2032 end formation","volume":"117","author":"Paushkin","year":"2004","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.ejmg.2018.01.002_bib5","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.cell.2014.03.049","article-title":"CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration","volume":"157","author":"Schaffer","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2018.01.002_bib6","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/nature05777","article-title":"The human RNA kinase hClp1 is active on 3\u2032 transfer RNA exons and short interfering RNAs","volume":"447","author":"Weitzer","year":"2007","journal-title":"Nature"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305384?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305384?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:17Z","timestamp":1761709517000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217305384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1769721217305384"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.01.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.01.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}