{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T09:15:32Z","timestamp":1777540532468,"version":"3.51.4"},"reference-count":16,"publisher":"Elsevier BV","issue":"9","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"}],"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":[[2019,9]]},"DOI":"10.1016\/j.ejmg.2018.09.011","type":"journal-article","created":{"date-parts":[[2018,9,21]],"date-time":"2018-09-21T06:12:44Z","timestamp":1537510364000},"page":"103544","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping"],"prefix":"10.1016","volume":"62","author":[{"given":"Esra","family":"Isik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayca","family":"Aykut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda","family":"Ozkinay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2018.09.011_bib1","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1172\/JCI84457","article-title":"Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin","volume":"126","author":"Bayram","year":"2016","journal-title":"J. Clin. Invest."},{"issue":"18","key":"10.1016\/j.ejmg.2018.09.011_bib2","doi-asserted-by":"crossref","first-page":"3502","DOI":"10.1093\/hmg\/ddq266","article-title":"The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response","volume":"19","author":"Chen","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2018.09.011_bib3","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ajhg.2015.01.003","article-title":"De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay","volume":"96","author":"Chong","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.09.011_bib4","series-title":"Presented at the 66th Annual Meeting of the American Society of Human Genetics, October 19, 2016, Vancouver, Canada,","article-title":"Arthrogryposis associated with a homozygous frameshift variant in TOR1A: fetal-onset dystonia may cause severe congenital joint contractures. (Abstract\/Program 2446)","author":"Clark","year":"2016"},{"key":"10.1016\/j.ejmg.2018.09.011_bib5","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.17983","article-title":"Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia","volume":"5","author":"Demircioglu","year":"2016","journal-title":"Elife"},{"issue":"10","key":"10.1016\/j.ejmg.2018.09.011_bib6","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1016\/j.parkreldis.2015.08.001","article-title":"Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited","volume":"21","author":"Dobricic","year":"2015","journal-title":"Park. Relat. Disord."},{"issue":"6","key":"10.1016\/j.ejmg.2018.09.011_bib7","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.neuron.2005.11.010","article-title":"Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope","volume":"48","author":"Goodchild","year":"2005","journal-title":"Neuron"},{"issue":"1\u20132","key":"10.1016\/j.ejmg.2018.09.011_bib8","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.gene.2008.10.023","article-title":"Characterization of the porcine TOR1A gene: the first step towards generation of a pig model for dystonia","volume":"430","author":"Henriksen","year":"2009","journal-title":"Gene"},{"issue":"6","key":"10.1016\/j.ejmg.2018.09.011_bib9","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng.581","article-title":"De novo mutations of SETBP1 cause Schinzel-Giedion syndrome","volume":"42","author":"Hoischen","year":"2010","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2018.09.011_bib10","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/brain\/awx230","article-title":"TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor","volume":"140","author":"Kariminejad","year":"2017","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.ejmg.2018.09.011_bib11","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2018.09.011_bib12","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1006\/geno.1999.6039","article-title":"The TOR1A (DYT1) gene family and its role in early onset torsion dystonia","volume":"62","author":"Ozelius","year":"1999","journal-title":"Genomics"},{"issue":"3","key":"10.1016\/j.ejmg.2018.09.011_bib13","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000154","article-title":"Biallelic TOR1A variants in an infant with severe arthrogryposis","volume":"3","author":"Reichert","year":"2017","journal-title":"Neurol Genet"},{"issue":"44","key":"10.1016\/j.ejmg.2018.09.011_bib14","doi-asserted-by":"crossref","first-page":"15650","DOI":"10.1073\/pnas.0308088101","article-title":"Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant","volume":"101","author":"Torres","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.ejmg.2018.09.011_bib15","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1002\/humu.22604","article-title":"Unraveling cellular phenotypes of novel TorsinA\/TOR1A mutations","volume":"35","author":"Vulinovic","year":"2014","journal-title":"Hum. Mutat."},{"issue":"12","key":"10.1016\/j.ejmg.2018.09.011_bib16","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1136\/jnnp.2008.148270","article-title":"Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)","volume":"79","author":"Zirn","year":"2008","journal-title":"J. Neurol. Neurosurg. Psychiatry"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303318?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303318?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:22Z","timestamp":1761709642000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218303318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S1769721218303318"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103544"}}