{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:17:19Z","timestamp":1761920239963},"reference-count":49,"publisher":"Public Library of Science (PLoS)","issue":"1","license":[{"start":{"date-parts":[[2017,1,12]],"date-time":"2017-01-12T00:00:00Z","timestamp":1484179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0169934","type":"journal-article","created":{"date-parts":[[2017,1,12]],"date-time":"2017-01-12T19:06:32Z","timestamp":1484247992000},"page":"e0169934","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":29,"title":["The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis"],"prefix":"10.1371","volume":"12","author":[{"given":"Vasileios","family":"Siokas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efthimios","family":"Dardiotis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evangelia E.","family":"Tsironi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Tsivgoulis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios","family":"Rikos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Sokratous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos","family":"Koutsias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Paterakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Deretzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios M.","family":"Hadjigeorgiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2017,1,12]]},"reference":[{"issue":"Pt 7","key":"ref1","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1093\/brain\/awt138","article-title":"The genetics of dystonia: new twists in an old tale","volume":"136","author":"G Charlesworth","year":"2013","journal-title":"Brain: a journal of neurology"},{"issue":"2","key":"ref2","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.nbd.2011.01.012","article-title":"Update on the pathology of dystonia","volume":"42","author":"DG Standaert","year":"2011","journal-title":"Neurobiology of disease"},{"issue":"9","key":"ref3","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":"A Quartarone","year":"2008","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"issue":"3","key":"ref4","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/nrn2337","article-title":"The pathophysiological basis of dystonias","volume":"9","author":"XO Breakefield","year":"2008","journal-title":"Nature reviews Neuroscience"},{"issue":"1","key":"ref5","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":"JT Teo","year":"2009","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"issue":"31","key":"ref6","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":"M Argyelan","year":"2009","journal-title":"The Journal of neuroscience: the official journal of the Society for Neuroscience"},{"issue":"7","key":"ref7","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: a consensus update","volume":"28","author":"A Albanese","year":"2013","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"9","key":"ref8","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1002\/humu.22602","article-title":"Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA\/TOR1","volume":"35","author":"J Hettich","year":"2014","journal-title":"A. Human mutation"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng0997-40","article-title":"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein","volume":"17","author":"LJ Ozelius","year":"1997","journal-title":"Nature genetics"},{"issue":"4","key":"ref10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/ene.12650","article-title":"Isolated and combined dystonia syndromes\u2014an update on new genes and their phenotypes","volume":"22","author":"B Balint","year":"2015","journal-title":"European journal of neurology"},{"issue":"5","key":"ref11","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1136\/jnnp.74.5.665","article-title":"Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia","volume":"74","author":"F Brancati","year":"2003","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"issue":"1","key":"ref12","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1212\/WNL.58.1.124","article-title":"A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm","volume":"58","author":"A Misbahuddin","year":"2002","journal-title":"Neurology"},{"key":"ref13","first-page":"143","article-title":"Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene","volume":"94","author":"A Misbahuddin","year":"2004","journal-title":"Advances in neurology"},{"issue":"4","key":"ref14","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.parkreldis.2011.11.024","article-title":"Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias","volume":"18","author":"JR Newman","year":"2012","journal-title":"Parkinsonism & related disorders"},{"issue":"2","key":"ref15","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jnnp.71.2.262","article-title":"Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene","volume":"71","author":"MR Placzek","year":"2001","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"issue":"8","key":"ref16","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":"D Sibbing","year":"2003","journal-title":"Neurology"},{"issue":"11","key":"ref17","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.parkreldis.2013.06.004","article-title":"Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China","volume":"19","author":"Y Chen","year":"2013","journal-title":"Parkinsonism & related disorders"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.neulet.2009.10.059","article-title":"Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia","volume":"468","author":"SC Cramer","year":"2010","journal-title":"Neuroscience letters"},{"issue":"3","key":"ref19","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.jocn.2014.08.014","article-title":"Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia","volume":"22","author":"W Sako","year":"2015","journal-title":"Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.neulet.2015.12.030","article-title":"Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia","volume":"612","author":"Q Zhou","year":"2015","journal-title":"Neuroscience letters"},{"issue":"3","key":"ref21","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.parkreldis.2012.08.015","article-title":"THAP1 mutations in a Greek primary blepharospasm series","volume":"19","author":"G Xiromerisiou","year":"2013","journal-title":"Parkinsonism & related disorders"},{"issue":"12","key":"ref22","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1212\/01.WNL.0000068161.38412.1F","article-title":"Modulation of the onset age in primary dystonia by APOE genotype","volume":"60","author":"S Matsumoto","year":"2003","journal-title":"Neurology"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.clineuro.2016.01.018","article-title":"Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population","volume":"142","author":"L Wang","year":"2016","journal-title":"Clinical neurology and neurosurgery"},{"issue":"6","key":"ref24","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/mds.25381","article-title":"Is TOR1A a risk factor in adult-onset primary torsion dystonia","volume":"28","author":"JL Groen","year":"2013","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"key":"ref25","first-page":"9","article-title":"The generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies","author":"E Zintzaras","year":"2010","journal-title":"Statistical applications in genetics and molecular biology"},{"issue":"12","key":"ref26","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1080\/02664763.2012.722611","article-title":"The power of generalized odds ratio in assessing association in genetic studies with known mode of inheritance","volume":"39","author":"E Zintzaras","year":"2012","journal-title":"Journal of Applied Statistics"},{"issue":"4","key":"ref27","first-page":"719","article-title":"Statistical aspects of the analysis of data from retrospective studies of disease","volume":"22","author":"N Mantel","year":"1959","journal-title":"Journal of the National Cancer Institute"},{"issue":"3","key":"ref28","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0197-2456(86)90046-2","article-title":"Meta-analysis in clinical trials","volume":"7","author":"R DerSimonian","year":"1986","journal-title":"Controlled clinical trials"},{"issue":"7109","key":"ref29","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1136\/bmj.315.7109.629","article-title":"Bias in meta-analysis detected by a simple, graphical test","volume":"315","author":"M Egger","year":"1997","journal-title":"BMJ (Clinical research ed)"},{"issue":"6","key":"ref30","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":"S Hague","year":"2006","journal-title":"Neurology"},{"issue":"13","key":"ref31","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":"N Sharma","year":"2010","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"16","key":"ref32","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":"N Bruggemann","year":"2009","journal-title":"Neurology"},{"issue":"1\u20132","key":"ref33","doi-asserted-by":"crossref","first-page":"16","DOI":"10.3109\/01677063.2012.761697","article-title":"Analysis of D216H polymorphism in Argentinean patients with primary dystonia","volume":"27","author":"M Caputo","year":"2013","journal-title":"Journal of neurogenetics"},{"issue":"6","key":"ref34","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1111\/j.1468-1331.2011.03582.x","article-title":"Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort","volume":"19","author":"Y Chen","year":"2012","journal-title":"European journal of neurology"},{"issue":"1\u20132","key":"ref35","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.jns.2012.09.025","article-title":"Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population","volume":"323","author":"Y Chen","year":"2012","journal-title":"Journal of the neurological sciences"},{"issue":"5","key":"ref36","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/ana.20485","article-title":"Torsin A haplotype predisposes to idiopathic dystonia","volume":"57","author":"J Clarimon","year":"2005","journal-title":"Annals of neurology"},{"issue":"2","key":"ref37","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":"J Clarimon","year":"2007","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"10","key":"ref38","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":"C Kamm","year":"2006","journal-title":"Neurology"},{"issue":"3","key":"ref39","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":"T Naiya","year":"2006","journal-title":"Acta neurologica Scandinavica"},{"issue":"9","key":"ref40","doi-asserted-by":"crossref","first-page":"671","DOI":"10.3109\/00207454.2014.962653","article-title":"TOR1A polymorphisms in a Russian cohort with primary focal\/segmental dystonia","volume":"125","author":"SL Timerbaeva","year":"2015","journal-title":"The International journal of neuroscience"},{"issue":"3","key":"ref41","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/j.parkreldis.2012.08.013","article-title":"TOR1A sequence variants and the association with early-onset primary dystonia in the Chinese Han population","volume":"19","author":"FB Cheng","year":"2013","journal-title":"Parkinsonism & related disorders"},{"issue":"Pt 5","key":"ref42","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":"G Defazio","year":"2007","journal-title":"Brain"},{"issue":"Suppl 1","key":"ref43","doi-asserted-by":"crossref","first-page":"S137","DOI":"10.1016\/S1353-8020(13)70033-6","article-title":"Genetics in dystonia","volume":"20","author":"C Klein","year":"2014","journal-title":"Parkinsonism & related disorders"},{"issue":"10","key":"ref44","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":"V Dobricic","year":"2015","journal-title":"Parkinsonism & related disorders"},{"issue":"8","key":"ref45","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/hmg\/ddl055","article-title":"Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier","volume":"15","author":"N Kock","year":"2006","journal-title":"Human molecular genetics"},{"issue":"23","key":"ref46","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1212\/01.wnl.0000313838.05734.8a","article-title":"Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism","volume":"70","author":"C Kamm","year":"2008","journal-title":"Neurology"},{"issue":"6","key":"ref47","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1086\/518427","article-title":"Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia","volume":"80","author":"NJ Risch","year":"2007","journal-title":"American journal of human genetics"},{"issue":"7","key":"ref48","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/mds.25536","article-title":"Genetics of dystonia: what's known? What's new? What's next?","volume":"28","author":"K Lohmann","year":"2013","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"4","key":"ref49","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/mds.22471","article-title":"The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm","volume":"24","author":"G Defazio","year":"2009","journal-title":"Movement disorders: official journal of the Movement Disorder Society"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0169934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T23:11:57Z","timestamp":1588979517000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0169934"}},"subtitle":[],"editor":[{"given":"Pedro","family":"Gonzalez-Alegre","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2017,1,12]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,1,12]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0169934","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,12]]}}}