{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:42Z","timestamp":1791250542229,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2011,2,8]],"date-time":"2011-02-08T00:00:00Z","timestamp":1297123200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1007\/s10048-011-0274-9","type":"journal-article","created":{"date-parts":[[2011,2,7]],"date-time":"2011-02-07T07:55:23Z","timestamp":1297065323000},"page":"137-143","source":"Crossref","is-referenced-by-count":26,"title":["A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3"],"prefix":"10.1007","volume":"12","author":[{"given":"Nina","family":"Norgren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Mattson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Forsgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Holmberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,2,8]]},"reference":[{"key":"274_CR1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1212\/WNL.50.5_Suppl_5.S1","volume":"50","author":"S Fahn","year":"1988","unstructured":"Fahn S (1988) Concept and classification of dystonia. Adv Neurol 50:1\u20138","journal-title":"Adv Neurol"},{"issue":"Pt 8","key":"274_CR2","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1093\/brain\/awp172","volume":"132","author":"U Muller","year":"2009","unstructured":"Muller U (2009) The monogenic primary dystonias. Brain 132(Pt 8):2005\u20132025. doi: 10.1093\/brain\/awp172","journal-title":"Brain"},{"issue":"1","key":"274_CR3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1468-1331.2010.03042.x","volume":"18","author":"A Albanese","year":"2011","unstructured":"Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Sole J (2011) EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 18(1):5\u201318. doi: 10.1111\/j.1468-1331.2010.03042.x","journal-title":"Eur J Neurol"},{"issue":"3","key":"274_CR4","first-page":"468","volume":"55","author":"PL Kramer","year":"1994","unstructured":"Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C et al (1994) The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-jews. Am J Hum Genet 55(3):468\u2013475","journal-title":"Am J Hum Genet"},{"issue":"1","key":"274_CR5","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng0997-40","volume":"17","author":"LJ Ozelius","year":"1997","unstructured":"Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO (1997) The early-onset torsion dystonia gene (DYT1) encodes an atp-binding protein. Nat Genet 17(1):40\u201348. doi: 10.1038\/ng0997-40","journal-title":"Nat Genet"},{"issue":"3","key":"274_CR6","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","volume":"41","author":"T Fuchs","year":"2009","unstructured":"Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ (2009) Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41(3):286\u2013288. doi: 10.1038\/ng.304","journal-title":"Nat Genet"},{"issue":"5","key":"274_CR7","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1002\/ana.410260505","volume":"26","author":"SB Bressman","year":"1989","unstructured":"Bressman SB, de Leon D, Brin MF, Risch N, Burke RE, Greene PE, Shale H, Fahn S (1989) Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 26(5):612\u2013620. doi: 10.1002\/ana.410260505","journal-title":"Ann Neurol"},{"issue":"24","key":"274_CR8","doi-asserted-by":"crossref","first-page":"8839","DOI":"10.1073\/pnas.0402441101","volume":"101","author":"L Gerace","year":"2004","unstructured":"Gerace L (2004) TorsinA and torsion dystonia: unraveling the architecture of the nuclear envelope. Proc Natl Acad Sci USA 101(24):8839\u20138840. doi: 10.1073\/pnas.0402441101","journal-title":"Proc Natl Acad Sci USA"},{"issue":"17","key":"274_CR9","doi-asserted-by":"crossref","first-page":"2712","DOI":"10.1093\/hmg\/ddn173","volume":"17","author":"LM Giles","year":"2008","unstructured":"Giles LM, Chen J, Li L, Chin LS (2008) Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum Mol Genet 17(17):2712\u20132722. doi: 10.1093\/hmg\/ddn173","journal-title":"Hum Mol Genet"},{"issue":"11","key":"274_CR10","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1523\/JNEUROSCI.4461-03.2004","volume":"24","author":"P Gonzalez-Alegre","year":"2004","unstructured":"Gonzalez-Alegre P, Paulson HL (2004) Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 24(11):2593\u20132601. doi: 10.1523\/JNEUROSCI.4461-03.2004","journal-title":"J Neurosci"},{"issue":"3","key":"274_CR11","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1073\/pnas.0304375101","volume":"101","author":"RE Goodchild","year":"2004","unstructured":"Goodchild RE, Dauer WT (2004) Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 101(3):847\u2013852. doi: 10.1073\/pnas.0304375101","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"274_CR12","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.neuron.2005.11.010","volume":"48","author":"RE Goodchild","year":"2005","unstructured":"Goodchild RE, Kim CE, Dauer WT (2005) Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48(6):923\u2013932. doi: 10.1016\/j.neuron.2005.11.010","journal-title":"Neuron"},{"issue":"6","key":"274_CR13","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1111\/j.1471-4159.2009.06095.x","volume":"109","author":"A Granata","year":"2009","unstructured":"Granata A, Schiavo G, Warner TT (2009) TorsinA and dystonia: from nuclear envelope to synapse. J Neurochem 109(6):1596\u20131609. doi: 10.1111\/j.1471-4159.2009.06095.x","journal-title":"J Neurochem"},{"issue":"20","key":"274_CR14","doi-asserted-by":"crossref","first-page":"7612","DOI":"10.1073\/pnas.0308760101","volume":"101","author":"TV Naismith","year":"2004","unstructured":"Naismith TV, Heuser JE, Breakefield XO, Hanson PI (2004) TorsinA in the nuclear envelope. Proc Natl Acad Sci USA 101(20):7612\u20137617. doi: 10.1073\/pnas.0308760101","journal-title":"Proc Natl Acad Sci USA"},{"issue":"Pt 20","key":"274_CR15","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1242\/jcs.029454","volume":"121","author":"FC Nery","year":"2008","unstructured":"Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO (2008) TorsinA binds the kash domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci 121(Pt 20):3476\u20133486. doi: 10.1242\/jcs.029454","journal-title":"J Cell Sci"},{"issue":"11","key":"274_CR16","doi-asserted-by":"crossref","first-page":"2661","DOI":"10.1091\/mbc.E09-01-0094","volume":"20","author":"AB Vander Heyden","year":"2009","unstructured":"Vander Heyden AB, Naismith TV, Snapp EL, Hodzic D, Hanson PI (2009) Lull1 retargets torsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell 20(11):2661\u20132672. doi: 10.1091\/mbc.E09-01-0094","journal-title":"Mol Biol Cell"},{"issue":"5","key":"274_CR17","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S1474-4422(09)70081-X","volume":"8","author":"SB Bressman","year":"2009","unstructured":"Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8(5):441\u2013446. doi: 10.1016\/S1474-4422(09)70081-X","journal-title":"Lancet Neurol"},{"issue":"2","key":"274_CR18","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1182\/blood-2006-03-012013","volume":"109","author":"C Cayrol","year":"2007","unstructured":"Cayrol C, Lacroix C, Mathe C, Ecochard V, Ceribelli M, Loreau E, Lazar V, Dessen P, Mantovani R, Aguilar L, Girard JP (2007) The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of prb\/e2f cell-cycle target genes. Blood 109(2):584\u2013594. doi: 10.1182\/blood-2006-03-012013","journal-title":"Blood"},{"issue":"4","key":"274_CR19","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ana.22138","volume":"68","author":"S Gavarini","year":"2010","unstructured":"Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, Ozelius LJ (2010) Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 68(4):549\u2013553. doi: 10.1002\/ana.22138","journal-title":"Ann Neurol"},{"issue":"4","key":"274_CR20","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/ana.22157","volume":"68","author":"FJ Kaiser","year":"2010","unstructured":"Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K (2010) The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 68(4):554\u2013559. doi: 10.1002\/ana.22157","journal-title":"Ann Neurol"},{"key":"274_CR21","first-page":"83","volume":"50","author":"L Forsgren","year":"1988","unstructured":"Forsgren L, Holmgren G, Almay BG, Drugge U (1988) Autosomal dominant torsion dystonia in a Swedish family. Adv Neurol 50:83\u201392","journal-title":"Adv Neurol"},{"issue":"2","key":"274_CR22","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/jnnp.59.2.178","volume":"59","author":"G Holmgren","year":"1995","unstructured":"Holmgren G, Ozelius L, Forsgren L, Almay BG, Holmberg M, Kramer P, Fahn S, Breakefield XO (1995) Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 59(2):178\u2013181","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"16","key":"274_CR23","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1002\/mds.22842","volume":"24","author":"P Blomstedt","year":"2009","unstructured":"Blomstedt P, Hariz MI, Tisch S, Holmberg M, Bergenheim TA, Forsgren L (2009) A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation. Mov Disord 24(16):2415\u20132419. doi: 10.1002\/mds.22842","journal-title":"Mov Disord"},{"issue":"3","key":"274_CR24","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/mds.870030302","volume":"3","author":"JG Nutt","year":"1988","unstructured":"Nutt JG, Muenter MD, Aronson A, Kurland LT, Melton LJ 3rd (1988) Epidemiology of focal and generalized dystonia in rochester, minnesota. Mov Disord 3(3):188\u2013194. doi: 10.1002\/mds.870030302","journal-title":"Mov Disord"},{"issue":"Suppl 1","key":"274_CR25","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1468-1331.2010.03053.x","volume":"17","author":"G Defazio","year":"2010","unstructured":"Defazio G (2010) The epidemiology of primary dystonia: current evidence and perspectives. Eur J Neurol 17(Suppl 1):9\u201314. doi: 10.1111\/j.1468-1331.2010.03053.x","journal-title":"Eur J Neurol"},{"issue":"7","key":"274_CR26","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1002\/j.1460-2075.1992.tb05317.x","volume":"11","author":"B Lichte","year":"1992","unstructured":"Lichte B, Veh RW, Meyer HE, Kilimann MW (1992) Amphiphysin, a novel protein associated with synaptic vesicles. EMBO J 11(7):2521\u20132530","journal-title":"EMBO J"},{"issue":"11","key":"274_CR27","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/hmg\/ddn057","volume":"17","author":"A Olsson","year":"2008","unstructured":"Olsson A, Lind L, Thornell LE, Holmberg M (2008) Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. Hum Mol Genet 17(11):1666\u20131672. doi: 10.1093\/hmg\/ddn057","journal-title":"Hum Mol Genet"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-011-0274-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-011-0274-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-011-0274-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T22:44:04Z","timestamp":1712184244000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-011-0274-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,8]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["274"],"URL":"https:\/\/doi.org\/10.1007\/s10048-011-0274-9","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,8]]}}}