{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:52:00Z","timestamp":1791856320598,"version":"4.3.4"},"reference-count":141,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.nbd.2010.12.012","type":"journal-article","created":{"date-parts":[[2010,12,18]],"date-time":"2010-12-18T09:29:08Z","timestamp":1292664548000},"page":"127-135","source":"Crossref","is-referenced-by-count":71,"title":["Genetic and clinical features of primary torsion dystonia"],"prefix":"10.1016","volume":"42","author":[{"given":"Laurie J.","family":"Ozelius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan B.","family":"Bressman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2010.12.012_bb0005","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1006\/geno.1993.1003","article-title":"Evidence for locus heterogeneity in autosomal dominant torsion dystonia","volume":"15","author":"Ahmad","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.nbd.2010.12.012_bb0010","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/ana.410420421","article-title":"Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families","volume":"42","author":"Almasy","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0015","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/mds.20760","article-title":"Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia","volume":"21","author":"Aniello","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0020","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 Neurosci"},{"key":"10.1016\/j.nbd.2010.12.012_bb0025","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1212\/01.WNL.0000149764.34953.BF","article-title":"Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation","volume":"64","author":"Asanuma","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0030","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/mds.10634","article-title":"Phenotypic characterization of DYT13 primary torsion dystonia","volume":"19","author":"Bentivoglio","year":"2004","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0035","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1002\/mds.22861","article-title":"Mutation screening of DYT6\/THAP1 gene in Italy","volume":"24","author":"Bonetti","year":"2009","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0040","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/brain\/awp156","article-title":"Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia","volume":"132","author":"Bradley","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2010.12.012_bb0045","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.mcn.2004.07.009","article-title":"Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA","volume":"27","author":"Bragg","year":"2004","journal-title":"Mol Cell Neurosci"},{"issue":"5","key":"10.1016\/j.nbd.2010.12.012_bb0050","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1136\/jnnp.74.5.665","article-title":"Italian Movement Disorder Study Group. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia","volume":"74","author":"Brancati","year":"2003","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nbd.2010.12.012_bb0055","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1001\/archneur.57.3.333","article-title":"Frequency of the DYT1 mutation in primary torsion dystonia without family history","volume":"57","author":"Brassat","year":"2000","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0060","first-page":"849","article-title":"Dystonia: phenotypes and genotypes","volume":"159","author":"Bressman","year":"2003","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.nbd.2010.12.012_bb0065","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1002\/ana.410260505","article-title":"Idiopathic torsion dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance","volume":"26","author":"Bressman","year":"1989","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0070","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ana.410360514","article-title":"Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation","volume":"36","author":"Bressman","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0075","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1002\/ana.410400421","article-title":"Exclusion of the DYT1 locus in familial torticollis","volume":"40","author":"Bressman","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0080","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1212\/WNL.54.9.1746","article-title":"The DYT1 phenotype and guidelines for diagnostic testing","volume":"54","author":"Bressman","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0085","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S1474-4422(09)70081-X","article-title":"Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study","volume":"8","author":"Bressman","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0090","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":"Br\u00fcggemann","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0095","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1136\/jmg.2009.072082","article-title":"Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia","volume":"47","author":"Calakos","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0100","doi-asserted-by":"crossref","first-page":"3466","DOI":"10.1093\/nar\/gkq053","article-title":"Structural determinants of specific DNA-recognition by the THAP zinc finger","volume":"38","author":"Campagne","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nbd.2010.12.012_bb0105","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.neuroscience.2008.12.041","article-title":"Abnormal structure\/function relationships in hereditary dystonia","volume":"164","author":"Carbon","year":"2009","journal-title":"Neuroscience"},{"key":"10.1016\/j.nbd.2010.12.012_bb0110","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ana.20177","article-title":"Microstructural white matter changes in carriers of the DYT1 gene mutation","volume":"56","author":"Carbon","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0115","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1212\/01.WNL.0000120541.97467.FE","article-title":"Regional metabolism in primary torsion dystonia: effects of penetrance and genotype","volume":"62","author":"Carbon","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0120","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/mds.21806","article-title":"Microstructural white matter changes in primary torsion dystonia","volume":"23","author":"Carbon","year":"2008","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0125","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1212\/WNL.0b013e3181aa538f","article-title":"Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia","volume":"72","author":"Carbon","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0130","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1182\/blood-2006-03-012013","article-title":"The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB\/E2F cell-cycle target genes","volume":"109","author":"Cayrol","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.nbd.2010.12.012_bb0135","doi-asserted-by":"crossref","first-page":"5717","DOI":"10.1113\/jphysiol.2008.159905","article-title":"A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS","volume":"586","author":"Cheeran","year":"2008","journal-title":"J Physiol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0140","article-title":"Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China","author":"Cheng","year":"2010","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0145","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/mds.10021","article-title":"Late-onset axial jerky dystonia due to the DYT1 deletion","volume":"17","author":"Chinnery","year":"2002","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0150","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s10048-008-0142-4","article-title":"A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22\u2013q13.12","volume":"9","author":"Chouery","year":"2008","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nbd.2010.12.012_bb0155","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.nbd.2010.12.012_bb0160","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.nbd.2010.12.012_bb0165","article-title":"Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype","author":"Clot","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nbd.2010.12.012_bb0170","doi-asserted-by":"crossref","first-page":"6907","DOI":"10.1073\/pnas.0406882102","article-title":"The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity","volume":"102","author":"Clouaire","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nbd.2010.12.012_bb0175","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":"Cramer","year":"2010","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.nbd.2010.12.012_bb0180","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/S1474-4422(02)00137-0","article-title":"Classification and genetics of dystonia","volume":"1","author":"de Carvalho Aguiar","year":"2002","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0185","doi-asserted-by":"crossref","first-page":"2854","DOI":"10.1002\/mds.23133","article-title":"Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion","volume":"25","author":"de Carvalho Aguiar","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0190","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1159\/000116969","article-title":"Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia","volume":"33","author":"Defazio","year":"1993","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0195","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.nbd.2010.12.012_bb0200","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":"Defazio","year":"2009","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0205","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S1474-4422(09)70083-3","article-title":"Mutations in THAP1 (DYT6) and generalized dystonia with prominent spasmodic dysphonia: a genetic screening study","volume":"8","author":"Djarmati","year":"2009","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0210_1","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1016\/j.neuroimage.2009.03.057","article-title":"Genotype\u2013phenotype interactions in primary dystonias revealed by differential changes in brain structure","volume":"47","author":"Draganski","year":"2009","journal-title":"Neuroimage"},{"key":"10.1016\/j.nbd.2010.12.012_bb0210_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1006\/geno.2002.6709","article-title":"Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins","volume":"79","author":"Dron","year":"2002","journal-title":"Genomics"},{"issue":"3","key":"10.1016\/j.nbd.2010.12.012_bb0700","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1006\/geno.2002.6709","article-title":"Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins","volume":"79","author":"Dron","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.nbd.2010.12.012_bb0215","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1002\/1531-8249(199910)46:4<587::AID-ANA6>3.0.CO;2-M","article-title":"Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease","volume":"46","author":"Duan","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0220","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1093\/brain\/awg209","article-title":"Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation","volume":"126","author":"Edwards","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2010.12.012_bb0225","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/mds.10411","article-title":"Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature","volume":"18","author":"Edwards","year":"2003","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0230","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ana.410440304","article-title":"Functional brain networks in DYT1 dystonia","volume":"44","author":"Eidelberg","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0235","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1468-1331.2010.03052.x","article-title":"Differential diagnosis of dystonia","volume":"17","author":"Elia","year":"2010","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0240","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/hmg\/ddl472","article-title":"SGCE missense mutations that cause myoclonus\u2013dystonia syndrome impair epsilon\u2013sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA","volume":"16","author":"Esapa","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0245","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1212\/WNL.50.5_Suppl_5.S1","article-title":"Concept and classification of dystonia","volume":"50","author":"Fahn","year":"1988","journal-title":"Adv Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0250","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1093\/brain\/awl283","article-title":"Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?","volume":"130","author":"Fiorio","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2010.12.012_bb0255","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/mds.21391","article-title":"First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population","volume":"22","author":"Fr\u00e9d\u00e9ric","year":"2007","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0260","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1002\/mds.22407","article-title":"The p.Asp216His TOR1A allele effect is not found in the French population","volume":"30","author":"Fr\u00e9d\u00e9ric","year":"2009","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0265","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","article-title":"Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia","volume":"41","author":"Fuchs","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0270","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1002\/mds.21056","article-title":"Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia","volume":"21","author":"Gambarin","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0275","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/ana.410440119","article-title":"Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset","volume":"44","author":"Gasser","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0280","doi-asserted-by":"crossref","DOI":"10.1002\/ana.22138","article-title":"Direct interaction between causative genes of DYT1 and DYT6 primary dystonia","author":"Gavarini","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0285","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/ana.10610","article-title":"Impaired sequence learning in carriers of the DYT1 dystonia mutation","volume":"54","author":"Ghilardi","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0290","doi-asserted-by":"crossref","first-page":"2712","DOI":"10.1093\/hmg\/ddn173","article-title":"Dystonia - associated mutations cause premature degradation of torsinA and cell-type-specific mislocalization to the nuclear envelope","volume":"17","author":"Giles","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0295","doi-asserted-by":"crossref","first-page":"82","DOI":"10.4161\/auto.5.1.7173","article-title":"TorsinA protein degradation and autophagy in DYT1 dystonia","volume":"5","author":"Giles","year":"2009","journal-title":"Autophagy"},{"key":"10.1016\/j.nbd.2010.12.012_bb0300","first-page":"73","article-title":"Hereditary torsion dystonia in gypsies","volume":"50","author":"Gimenez-Roldan","year":"1988","journal-title":"Adv Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0305","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1523\/JNEUROSCI.4461-03.2004","article-title":"Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia","volume":"24","author":"Gonzalez-Alegre","year":"2004","journal-title":"J Neurosci"},{"key":"10.1016\/j.nbd.2010.12.012_bb0310","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1073\/pnas.0304375101","article-title":"Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation","volume":"101","author":"Goodchild","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nbd.2010.12.012_bb0315","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"},{"key":"10.1016\/j.nbd.2010.12.012_bb0320","doi-asserted-by":"crossref","first-page":"7568","DOI":"10.1074\/jbc.M704097200","article-title":"The dystonia-associated protein torsinA modulates synaptic vesicle recycling","volume":"283","author":"Granata","year":"2008","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nbd.2010.12.012_bb0325","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/mds.870100204","article-title":"Spread of symptoms in idiopathic torsion dystonia","volume":"10","author":"Greene","year":"1995","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0330","doi-asserted-by":"crossref","DOI":"10.1002\/mds.23285","article-title":"DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation","author":"Groen","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0335","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.nbd.2010.12.012_bb0340","first-page":"123","article-title":"Primary dystonias: a review of the pathology and suggestions for new directions of study","volume":"50","author":"Hedreen","year":"1988","journal-title":"Adv Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0345","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1212\/01.WNL.0000137113.39225.FA","article-title":"Increased risk for recurrent major depression in DYT1 dystonia mutation carriers","volume":"63","author":"Heiman","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0350","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.b.30431","article-title":"Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene","volume":"144","author":"Heiman","year":"2007","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0355","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.nbd.2005.10.012","article-title":"Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics","volume":"22","author":"Hewett","year":"2006","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.nbd.2010.12.012_bb0360","doi-asserted-by":"crossref","first-page":"7271","DOI":"10.1073\/pnas.0701185104","article-title":"Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells","volume":"104","author":"Hewett","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nbd.2010.12.012_bb0365","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1212\/01.wnl.0000302175.76229.f0","article-title":"Neuropathology of primary adult-onset dystonia","volume":"70","author":"Holton","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0370","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1212\/WNL.0b013e3181d5276d","article-title":"THAP1 mutations (DYT6) are an additional cause of early-onset dystonia","volume":"74","author":"Houlden","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0375","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.parkreldis.2004.05.004","article-title":"DYT1 mutation in Korean primary dystonia patients","volume":"10","author":"Im","year":"2004","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0380","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1136\/jnnp.67.3.395","article-title":"Primary torsion dystonia: the search for genes is not over","volume":"67","author":"Jarman","year":"1999","journal-title":"J Neurol Neurosurg Psych"},{"key":"10.1016\/j.nbd.2010.12.012_bb0385","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/ana.22157","article-title":"The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)","volume":"68","author":"Kaiser","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0390","doi-asserted-by":"crossref","first-page":"19882","DOI":"10.1074\/jbc.M401332200","article-title":"The early onset dystonia protein torsinA interacts with kinesin light chain 1","volume":"279","author":"Kamm","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nbd.2010.12.012_bb0395","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"},{"issue":"23","key":"10.1016\/j.nbd.2010.12.012_bb0695","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":"Kamm","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0400","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1212\/01.WNL.0000099076.17187.9A","article-title":"Autosomal recessive, DYT2-like primary torsion dystonia: a new family","volume":"6","author":"Khan","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0405","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":"Kock","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0410","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/brain\/122.1.41","article-title":"DYT1 mutation in French families with idiopathic torsion dystonia","volume":"122","author":"Lebre","year":"1999","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2010.12.012_bb0415","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1093\/hmg\/5.10.1673","article-title":"Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution","volume":"5","author":"Leube","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0420","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s100480100111","article-title":"Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism","volume":"3","author":"Leung","year":"2001","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nbd.2010.12.012_bb0425","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.parkreldis.2005.08.002","article-title":"DYT1 mutation in a cohort of Taiwanese primary dystonias","volume":"12","author":"Lin","year":"2006","journal-title":"Parkinsonism Relat Disord"},{"issue":"10","key":"10.1016\/j.nbd.2010.12.012_bb0430","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1001\/archneur.61.10.1569","article-title":"Validity of family history data on primary adult-onset dystonia","volume":"61","author":"Martino","year":"2004","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0435","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1111\/j.1468-1331.2009.02633.x","article-title":"Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia","volume":"16","author":"Martino","year":"2009","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0440","doi-asserted-by":"crossref","first-page":"13364","DOI":"10.1074\/jbc.M109.072579","article-title":"The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias","volume":"285","author":"Mazars","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nbd.2010.12.012_bb0445","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/ana.20225","article-title":"Brainstem pathology in DYT1 primary torsion dystonia","volume":"56","author":"McNaught","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0450","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":"Misbahuddin","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0455","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/mds.20351","article-title":"Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells","volume":"20","author":"Misbahuddin","year":"2005","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0460","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/mds.20228","article-title":"Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family","volume":"20","author":"Moretti","year":"2005","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0465","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1212\/01.WNL.0000026474.12594.0D","article-title":"The prevalence of primary dystonia in the general community","volume":"59","author":"Muller","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0470","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1002\/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I","article-title":"A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia","volume":"15","author":"M\u00fcnchau","year":"2000","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0475","doi-asserted-by":"crossref","first-page":"7612","DOI":"10.1073\/pnas.0308760101","article-title":"TorsinA in the nuclear envelope","volume":"101","author":"Naismith","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nbd.2010.12.012_bb0480","doi-asserted-by":"crossref","first-page":"27866","DOI":"10.1074\/jbc.M109.020164","article-title":"Interaction of torsin A with its major binding partners is impaired by the dystaonia-associated DeltaGAG deletion","volume":"284","author":"Naismith","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nbd.2010.12.012_bb0485","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1242\/jcs.029454","article-title":"TorsinA involvement in linkage between nuclear envelope and intermediate filaments in cytoplasm","volume":"121","author":"Nery","year":"2008","journal-title":"J Cell Sci"},{"key":"10.1016\/j.nbd.2010.12.012_bb0490","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1101\/gr.9.1.27","article-title":"AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes","volume":"9","author":"Neuwald","year":"1999","journal-title":"Genome Res"},{"key":"10.1016\/j.nbd.2010.12.012_bb0495","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/mds.870030302","article-title":"Epidemiology of focal and generalized dystonia in Rochester","volume":"3","author":"Nutt","year":"1988","journal-title":"Minn Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0500","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1212\/01.wnl.0000176068.23983.a8","article-title":"Sensory abnormalities in unaffected relatives in familial adult-onset dystonia","volume":"65","author":"O'Dwyer","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0505","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.neuroscience.2009.09.017","article-title":"Mutant torsinA interacts with tyrosine hydroxylase in cultures cells","volume":"164","author":"O'Farrell","year":"2009","journal-title":"Neuroscience"},{"key":"10.1016\/j.nbd.2010.12.012_bb0510","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/mds.10096","article-title":"Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm","volume":"17","author":"Opal","year":"2002","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0515","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":"Ozelius","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0520","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"},{"key":"10.1016\/j.nbd.2010.12.012_bb0525","doi-asserted-by":"crossref","first-page":"2428","DOI":"10.1002\/mds.22849","article-title":"Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia","volume":"24","author":"Pais\u00e1n-Ruiz","year":"2009","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0530","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1136\/jnnp.48.3.218","article-title":"Hereditary whispering dysphonia","volume":"48","author":"Parker","year":"1985","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nbd.2010.12.012_bb0535","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":"Placzek","year":"2001","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nbd.2010.12.012_bb0540","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 Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nbd.2010.12.012_bb0545","first-page":"533","article-title":"Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance","volume":"46","author":"Risch","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0550","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng0295-152","article-title":"Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population","volume":"9","author":"Risch","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0555","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":"Risch","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0560","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0969-9961(02)00010-4","article-title":"TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion","volume":"12","author":"Rostasy","year":"2003","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.nbd.2010.12.012_bb0565","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.1038\/sj.onc.1206271","article-title":"THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies","volume":"22","author":"Roussigne","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.nbd.2010.12.012_bb0570","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/nsmb.1742","article-title":"THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves","volume":"17","author":"Sabogal","year":"2010","journal-title":"Nat Struct Mol Biol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0575","first-page":"121","article-title":"Penetrance and expression of dystonia genes","volume":"94","author":"Saunders-Pullman","year":"2004","journal-title":"Adv Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0580","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1212\/01.WNL.0000166030.05756.9F","article-title":"A new screening tool for cervical dystonia","volume":"64","author":"Saunders-Pullman","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2010.12.012_bb0585","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1002\/ajmg.a.31887","article-title":"Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites","volume":"143A","author":"Saunders-Pullman","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.nbd.2010.12.012_bb0590","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.parkreldis.2010.03.003","article-title":"Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study","volume":"16","author":"Saunders-Pullman","year":"2010","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0595","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.nbd.2010.12.012_bb0600","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.nbd.2010.12.012_bb0605","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/lary.20677","article-title":"Brainstem pathology in spasmodic dysphonia","volume":"120","author":"Simonyan","year":"2010","journal-title":"Laryngoscope"},{"key":"10.1016\/j.nbd.2010.12.012_bb0610","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9","article-title":"A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia","volume":"14","author":"Slominsky","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nbd.2010.12.012_bb0615","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1002\/mds.23207","article-title":"Prevalence of THAP1 sequence variants in German patients with primary dystonia","volume":"25","author":"S\u00f6hn","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0620","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1007\/s004150070094","article-title":"A prevalence study of primary dystonia in eight European countries","volume":"247","author":"The Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group","year":"2000","journal-title":"J Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0625","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 USA"},{"key":"10.1016\/j.nbd.2010.12.012_bb0630","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.1136\/jmg.38.10.e35","article-title":"No evidence of allelic heterogeneity in DYT1 gene of European patients with early onset torsion dystonia","volume":"38","author":"Tuffery-Giraud","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.nbd.2010.12.012_bb0635","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/mds.870080413","article-title":"Adult onset familial cervical dystonia: report of a family including monozygotic twins","volume":"8","author":"Uitti","year":"1993","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0640","doi-asserted-by":"crossref","first-page":"F13","DOI":"10.1083\/jcb.150.1.F13","article-title":"AAA proteins. Lords of the ring","volume":"150","author":"Vale","year":"2000","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0645","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1093\/brain\/121.12.2335","article-title":"The role of primary torsion dystonia in Europe","volume":"121","author":"Valente","year":"1998","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2010.12.012_bb0650","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/ana.73","article-title":"Albanese A DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13\u201336.32 in an Italian family with cranial-cervical or upper limb onset","volume":"49","author":"Valente","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0655","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ana.410290315","article-title":"A genetic study of idiopathic focal dystonias","volume":"29","author":"Waddy","year":"1991","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0660","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.expneurol.2008.04.020","article-title":"Commentary: dopaminergic dysfunction in DYT1 dystonia","volume":"212","author":"Wichmann","year":"2008","journal-title":"Exp Neurol"},{"key":"10.1016\/j.nbd.2010.12.012_bb0665","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.nbd.2010.12.012_bb0670","first-page":"873","article-title":"Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene","volume":"118","author":"Yeung","year":"2005","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.nbd.2010.12.012_bb0675","first-page":"77","article-title":"Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies","volume":"70","author":"Zeman","year":"1967","journal-title":"Psychiatr Neurol Neurochir"},{"key":"10.1016\/j.nbd.2010.12.012_bb0680","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1136\/jnnp.2008.148270","article-title":"Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT 1)","volume":"79","author":"Zirn","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nbd.2010.12.012_bb0685","doi-asserted-by":"crossref","DOI":"10.1002\/mds.23279","article-title":"Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families","author":"Zittel","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.nbd.2010.12.012_bb0690","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/mds.10045","article-title":"Frequency of DYT1 mutation in early onset primary dystonia in Italian patients","volume":"17","author":"Zorzi","year":"2002","journal-title":"Mov Disord"}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996110004055?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996110004055?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,6,4]],"date-time":"2023-06-04T15:08:36Z","timestamp":1685891316000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996110004055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":141,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S0969996110004055"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2010.12.012","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]}}}