{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T04:13:28Z","timestamp":1768968808570,"version":"3.49.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2012,5]]},"DOI":"10.1016\/j.parkreldis.2011.11.024","type":"journal-article","created":{"date-parts":[[2011,12,14]],"date-time":"2011-12-14T09:31:29Z","timestamp":1323855089000},"page":"351-357","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias"],"prefix":"10.1016","volume":"18","author":[{"given":"Jeremy R.B.","family":"Newman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg T.","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard S.","family":"Boyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Limberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Blum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John D.","family":"O\u2019Sullivan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Silburn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George D.","family":"Mellick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2011.11.024_bib1","first-page":"1","article-title":"Classification of dystonia","volume":"78","author":"Fahn","year":"1998","journal-title":"Adv Neurol"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib2","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/jnnp.2008.144626","article-title":"Neurophysiological evidence for cerebellar dysfunction in primary focal dystonia","volume":"80","author":"Teo","year":"2009","journal-title":"J\u00a0Neurol Neurosurg Psychiatr"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib3","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1136\/jnnp.2007.121632","article-title":"Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia","volume":"79","author":"Quartarone","year":"2008","journal-title":"J\u00a0Neurol Neurosurg Psychiatr"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib4","doi-asserted-by":"crossref","first-page":"9740","DOI":"10.1523\/JNEUROSCI.2300-09.2009","article-title":"Cerebellothalamocortical connectivity regulates penetrance in dystonia","volume":"29","author":"Argyelan","year":"2009","journal-title":"J\u00a0Neurosci"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib5","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1093\/brain\/awl355","article-title":"Do primary adult-onset focal dystonias share aetiological factors?","volume":"130","author":"Defazio","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib6","first-page":"787","article-title":"A\u00a0prevalence study of primary dystonia in eight European countries","volume":"247","year":"2000","journal-title":"J\u00a0Neurol"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib7","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1212\/WNL.0b013e3181a1861e","article-title":"The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?","volume":"72","author":"Bruggemann","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib8","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/mds.21182","article-title":"Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm","volume":"22","author":"Clarimon","year":"2007","journal-title":"Mov Disord"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1136\/jnnp.64.1.25","article-title":"Possible risk factors for primary adult onset dystonia: a case\u2013control investigation by the Italian Movement Disorders Study Group","volume":"64","author":"Defazio","year":"1998","journal-title":"J\u00a0Neurol Neurosurg Psychiatr"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib10","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1212\/WNL.59.8.1187","article-title":"Phenotypic features of myoclonus-dystonia in three kindreds","volume":"59","author":"Doheny","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib11","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1002\/mds.21095","article-title":"Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with myofibrillogenesis regulator 1 gene mutation","volume":"21","author":"Stefanova","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib12","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S0140-6736(10)62345-8","article-title":"Imputation of sequence variants for identification of genetic risks for Parkinson\u2019s disease: a meta-analysis of genome-wide association studies","volume":"377","author":"Nalls","year":"2011","journal-title":"Lancet"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib13","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1212\/01.wnl.0000255938.33739.46","article-title":"Variations in the APP gene promoter region and risk of Alzheimer disease","volume":"68","author":"Guyant-Marechal","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib14","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/ana.20485","article-title":"Torsin A haplotype predisposes to idiopathic dystonia","volume":"57","author":"Clarimon","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib15","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1212\/01.wnl.0000244423.63406.17","article-title":"Strong genetic evidence for association of TOR1A\/TOR1B with idiopathic dystonia","volume":"67","author":"Kamm","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib16","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1002\/mds.23225","article-title":"Genetic evidence for an association of the TOR1A locus with segmental\/focal dystonia","volume":"25","author":"Sharma","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib17","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1600-0404.2006.00663.x","article-title":"Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients","volume":"114","author":"Naiya","year":"2006","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib18","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1212\/01.wnl.0000203344.43342.18","article-title":"Lack of association with TorsinA haplotype in German patients with sporadic dystonia","volume":"66","author":"Hague","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib19","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1212\/01.WNL.0000090560.20641.AB","article-title":"Candidate gene studies in focal dystonia","volume":"61","author":"Sibbing","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib20","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.parkreldis.2011.06.023","article-title":"Mutational screening of THAP1 in a German population with primary dystonia","volume":"18","author":"Kaffe","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib21","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/mds.23551","article-title":"The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia","volume":"26","author":"Xiao","year":"2011","journal-title":"Mov Disord"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib22","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1212\/WNL.0b013e3181ca00ca","article-title":"Novel THAP1 sequence variants in primary dystonia","volume":"74","author":"Xiao","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib23","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.braindev.2009.02.008","article-title":"The expanding phenotype of GLUT1-deficiency syndrome","volume":"31","author":"Brockmann","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib24","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1471-2156-9-36","article-title":"PGA: power calculator for case-control genetic association analyses","volume":"9","author":"Menashe","year":"2008","journal-title":"BMC Genet"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib25","unstructured":"Furukawa Y. GTP cyclohydrolase 1-deficient Dopa-responsive dystonia; 1993."},{"key":"10.1016\/j.parkreldis.2011.11.024_bib26","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.nbd.2009.12.003","article-title":"Convergent evidence for abnormal striatal synaptic plasticity in dystonia","volume":"37","author":"Peterson","year":"2011","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib27","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.pain.2008.10.023","article-title":"Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain","volume":"141","author":"Campbell","year":"2009","journal-title":"Pain"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib28","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jacc.2007.12.062","article-title":"GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function","volume":"52","author":"Antoniades","year":"2008","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib29","author":"Lill"},{"key":"10.1016\/j.parkreldis.2011.11.024_bib30","doi-asserted-by":"crossref","unstructured":"Chen Y, Burgunder JM, Song W, Huang R, Shang HF. Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort. Eur J Neurol, Published online, 8 Nov 2011, doi:10.1111\/j.1468-1331.2011.03582.x.","DOI":"10.1111\/j.1468-1331.2011.03582.x"}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802011004068?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802011004068?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:12:40Z","timestamp":1761178360000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802011004068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S1353802011004068"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2011.11.024","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2011.11.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}