{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:45:07Z","timestamp":1789847107092,"version":"4.0.1"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"The Society for the Relief of Disabled Children, Hong Kong"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1016\/j.parkreldis.2019.01.013","type":"journal-article","created":{"date-parts":[[2019,1,17]],"date-time":"2019-01-17T18:46:29Z","timestamp":1547750789000},"page":"42-45","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35"],"prefix":"10.1016","volume":"63","author":[{"given":"Jasmine L.F.","family":"Fung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy H.Y.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon K.C.","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit San","family":"Yeung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C.Y.","family":"Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheuk Wing","family":"Fung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophelia H.S.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mullin H.C.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H.Y.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2019.01.013_bib1","doi-asserted-by":"crossref","first-page":"3510","DOI":"10.1093\/brain\/awq323","article-title":"TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing","volume":"133","author":"Wang","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2019.01.013_bib2","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib3","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1212\/WNL.0000000000000909","article-title":"Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization","volume":"83","author":"Guo","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2019.01.013_bib4","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/j.1399-0004.2012.01895.x","article-title":"Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family","volume":"83","author":"Li","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib5","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1038\/ejhg.2014.67","article-title":"Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia","volume":"23","author":"Pan","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib6","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.parkreldis.2017.07.001","article-title":"TGM6 gene mutations in undiagnosed cerebellar ataxia patients","volume":"46","author":"hua Yang","year":"2018","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib7","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/gim.2014.154","article-title":"Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions","volume":"17","author":"Farwell","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-017-14254-7","article-title":"Genetic variants associated with episodic ataxia in Korea","volume":"7","author":"Choi","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib9","first-page":"5","volume":"vol. 35","author":"Lin","year":"2018"},{"key":"10.1016\/j.parkreldis.2019.01.013_bib10","doi-asserted-by":"crossref","first-page":"3749","DOI":"10.1093\/hmg\/ddx259","article-title":"Mutations in TGM6 induce the unfolded protein response in SCA35","volume":"26","author":"Tripathy","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib11","doi-asserted-by":"crossref","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.parkreldis.2019.01.013_bib12","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.bbrc.2012.11.069","article-title":"Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis","volume":"430","author":"Guan","year":"2013","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib13","first-page":"1","article-title":"ACGS best practice guidelines for variant classification 2017","author":"Ellard","year":"2017","journal-title":"Assoc. Clin. Genet. Sci."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib14","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.ajhg.2018.02.019","article-title":"Identification of misclassified ClinVar variants via disease population prevalence","volume":"102","author":"Shah","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2019.01.013_bib15","doi-asserted-by":"crossref","DOI":"10.1159\/000358801","article-title":"The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies","author":"Ruano","year":"2014","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.parkreldis.2019.01.013_bib16","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","article-title":"Evaluating the clinical Validity of gene-disease Associations: an evidence-based framework developed by the clinical genome resource","volume":"100","author":"Strande","year":"2017","journal-title":"Am. J. Hum. Genet."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019300136?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019300136?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T02:26:36Z","timestamp":1564539996000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802019300136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":16,"alternative-id":["S1353802019300136"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.01.013","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2019,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.01.013","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"}]}}