{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T06:13:24Z","timestamp":1789712004837,"version":"4.0.1"},"reference-count":43,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":546,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neurol Scand"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1111\/ane.12231","type":"journal-article","created":{"date-parts":[[2014,3,4]],"date-time":"2014-03-04T07:11:53Z","timestamp":1393917113000},"page":"13-19","source":"Crossref","is-referenced-by-count":37,"special_numbering":"supplement s198","title":["Dystonia - new advances in classification, genetics, pathophysiology and treatment"],"prefix":"10.1155","volume":"129","author":[{"given":"I. M.","family":"Skogseid","sequence":"first","affiliation":[{"name":"Department of Neurology; Oslo University Hospital; Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,4]]},"reference":[{"key":"10.1111\/ane.12231-BIB0001|ane12231-cit-0001","first-page":"1090","article-title":"About a rare spasm disease of childhood and young age (Dysbasia lordotica progressiva, dystonia musculorum deformans)","volume":"30","author":"Oppenheim","year":"1911","journal-title":"Neurologische Centralblatt"},{"key":"10.1111\/ane.12231-BIB0002|ane12231-cit-0002","first-page":"298","volume-title":"L'\u00e9lectrisation localis\u00e9e","author":"Duchenne","year":"1861","edition":"2"},{"key":"10.1111\/ane.12231-BIB0003|ane12231-cit-0003","volume-title":"A manual of diseases of the nervous system","author":"Gowers","year":"1888","edition":"2"},{"key":"10.1111\/ane.12231-BIB0004|ane12231-cit-0004","first-page":"259","volume-title":"Advances in neurology","author":"Marsden","year":"1976"},{"key":"10.1111\/ane.12231-BIB0005|ane12231-cit-0005","first-page":"332","volume-title":"Movement disorders 2","author":"Fahn","year":"1987"},{"key":"10.1111\/ane.12231-BIB0006|ane12231-cit-0006","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":"Albanese","year":"2013","journal-title":"Mov Disord"},{"key":"10.1111\/ane.12231-BIB0007|ane12231-cit-0007","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":"10.1111\/ane.12231-BIB0008|ane12231-cit-0008","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"},{"issue":"Suppl. 1","key":"10.1111\/ane.12231-BIB0009|ane12231-cit-0009","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1468-1331.2010.03057.x","article-title":"The role of torsinA in dystonia","volume":"17","author":"Granata","year":"2010","journal-title":"Eur J Neurol"},{"key":"10.1111\/ane.12231-BIB0010|ane12231-cit-0010","doi-asserted-by":"crossref","first-page":"34","DOI":"10.3389\/fneur.2013.00034","article-title":"Genetic issues in the diagnosis of dystonias","volume":"4","author":"Petrucci","year":"2013","journal-title":"Front Neurol"},{"key":"10.1111\/ane.12231-BIB0011|ane12231-cit-0011","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/mds.25412","article-title":"Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia","volume":"28","author":"Petrucci","year":"2013","journal-title":"Mov Disord"},{"key":"10.1111\/ane.12231-BIB0012|ane12231-cit-0012","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","article-title":"Mutations in the THAP1gene are responsible for DYT6 primary torsion dystonia","volume":"41","author":"Fuchs","year":"2009","journal-title":"Nat Genet"},{"key":"10.1111\/ane.12231-BIB0013|ane12231-cit-0013","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","article-title":"The monoamine neurotransmitter disorders: an expanding range of neurological syndromes","volume":"10","author":"Kurian","year":"2011","journal-title":"Lancet Neurol"},{"key":"10.1111\/ane.12231-BIB0014|ane12231-cit-0014","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":"10.1111\/ane.12231-BIB0015|ane12231-cit-0015","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":"10.1111\/ane.12231-BIB0016|ane12231-cit-0016","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.nbd.2010.12.012","article-title":"Genetic and clinical features of primary torsion dystonia","volume":"42","author":"Ozelius","year":"2011","journal-title":"Neurobiol Dis"},{"key":"10.1111\/ane.12231-BIB0017|ane12231-cit-0017","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":"10.1111\/ane.12231-BIB0018|ane12231-cit-0018","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":"10.1111\/ane.12231-BIB0019|ane12231-cit-0019","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1002\/humu.21564","article-title":"DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene","volume":"32","author":"Blanchard","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1111\/ane.12231-BIB0020|ane12231-cit-0020","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.parkreldis.2012.02.001","article-title":"Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases","volume":"18","author":"LeDoux","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1111\/ane.12231-BIB0021|ane12231-cit-0021","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/ana.23832","article-title":"Mutations in the autoregulatory domain of \u03b2-tubulin 4a cause hereditary dystonia","volume":"73","author":"Hersheson","year":"2013","journal-title":"Ann Neurol"},{"key":"10.1111\/ane.12231-BIB0022|ane12231-cit-0022","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ana.23829","article-title":"Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene","volume":"73","author":"Lohmann","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1111\/ane.12231-BIB0023|ane12231-cit-0023","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/ana.23547","article-title":"Mutations in CIZ1 cause adult onset primary cervical dystonia","volume":"71","author":"Xiao","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1111\/ane.12231-BIB0024|ane12231-cit-0024","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.ajhg.2012.10.024","article-title":"Mutations in ANO3 cause dominant cranio cervical dystonia: ion channel implicated in pathogenesis","volume":"91","author":"Charlesworth","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ane.12231-BIB0025|ane12231-cit-0025","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng.2496","article-title":"Mutations in GNAL cause primary torsion dystonia","volume":"45","author":"Fuchs","year":"2013","journal-title":"Nat Genet"},{"key":"10.1111\/ane.12231-BIB0026|ane12231-cit-0026","doi-asserted-by":"crossref","first-page":"2510","DOI":"10.1093\/hmg\/ddt102","article-title":"Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia","volume":"22","author":"Vemula","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ane.12231-BIB0027|ane12231-cit-0027","doi-asserted-by":"crossref","first-page":"RC91","DOI":"10.1523\/JNEUROSCI.20-16-j0001.2000","article-title":"G(olf)alpha mediates dopamine D1 receptor signaling","volume":"20","author":"Zhuang","year":"2000","journal-title":"J Neurosci"},{"key":"10.1111\/ane.12231-BIB0028|ane12231-cit-0028","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.nbd.2010.10.010","article-title":"Hereditary dystonia as a neurodevelopmental circuit disorder: evidence from neuroimaging","volume":"42","author":"Niethammer","year":"2011","journal-title":"Neurobiol Dis"},{"key":"10.1111\/ane.12231-BIB0029|ane12231-cit-0029","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1093\/brain\/awt150","article-title":"Secondary and primary dystonia: pathophysiological differences","volume":"136","author":"Kojovic","year":"2013","journal-title":"Brain"},{"key":"10.1111\/ane.12231-BIB0030|ane12231-cit-0030","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s00702-012-0893-9","article-title":"Immunogenicity of botulinum toxins","volume":"120","author":"Naumann","year":"2013","journal-title":"J Neural Transm"},{"key":"10.1111\/ane.12231-BIB0031|ane12231-cit-0031","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/bmjopen-2011-000646","article-title":"Prospective analysis of neutralising antibody titres in secondary non-responders under continuous treatment with a botulinumtoxin type A preparation free of complexing proteins-a single cohort 4-year follow-up study","volume":"2","author":"Hefter","year":"2012","journal-title":"BMJ Open"},{"key":"10.1111\/ane.12231-BIB0032|ane12231-cit-0032","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1111\/j.1468-1331.2007.01922.x","article-title":"Determinants and status of quality of life after long-term botulinum toxin therapy for cervical dystonia","volume":"14","author":"Skogseid","year":"2007","journal-title":"Eur J Neurol"},{"key":"10.1111\/ane.12231-BIB0033|ane12231-cit-0033","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1111\/j.1600-0404.2008.01111.x","article-title":"Impact of dystonia on quality of life and health in a Swedish population","volume":"119","author":"Zetterberg","year":"2009","journal-title":"Acta Neurol Scand"},{"key":"10.1111\/ane.12231-BIB0034|ane12231-cit-0034","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3171\/jns.2004.101.2.0189","article-title":"Electrical stimulation of the internal globus pallidus in generalized dystonia: long-term results","volume":"101","author":"Coubes","year":"2004","journal-title":"J Neurosurg"},{"key":"10.1111\/ane.12231-BIB0035|ane12231-cit-0035","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1056\/NEJMoa042187","article-title":"Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia","volume":"352","author":"Vidailhet","year":"2005","journal-title":"N Engl J Med"},{"key":"10.1111\/ane.12231-BIB0036|ane12231-cit-0036","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1056\/NEJMoa063618","article-title":"Pallidal deep-brain stimulation in primary generalized or segmental dystonia","volume":"355","author":"Kupsch","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1111\/ane.12231-BIB0037|ane12231-cit-0037","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1600-0404.2008.01032.x","article-title":"Pallidal deep brain stimulation is effective, and improves quality of life in primary segmental and generalized dystonia","volume":"188","author":"Skogseid","year":"2008","journal-title":"Acta Neurol Scand Suppl"},{"key":"10.1111\/ane.12231-BIB0038|ane12231-cit-0038","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S1474-4422(07)70035-2","article-title":"Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3\u00a0year follow-up study","volume":"6","author":"Vidailhet","year":"2007","journal-title":"Lancet Neurol"},{"key":"10.1111\/ane.12231-BIB0039|ane12231-cit-0039","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/S1474-4422(12)70257-0","article-title":"Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial","volume":"11","author":"Volkmann","year":"2012","journal-title":"Lancet Neurol"},{"key":"10.1111\/ane.12231-BIB0040|ane12231-cit-0040","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.3171\/2012.1.JNS102045","article-title":"Staged implantation of multiple electrodes in the internal globus pallidus in the treatment of primary generalized dystonia","volume":"116","author":"Cif","year":"2012","journal-title":"J Neurosurg"},{"key":"10.1111\/ane.12231-BIB0041|ane12231-cit-0041","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/j.1468-1331.2011.03591.x","article-title":"Good long-term efficacy of pallidal stimulation in cervical dystonia: a prospective, observer-blinded study","volume":"19","author":"Skogseid","year":"2012","journal-title":"Eur J Neurol"},{"key":"10.1111\/ane.12231-BIB0042|ane12231-cit-0042","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1093\/brain\/awt009","article-title":"Bilateral pallidal stimulation in cervical dystonia: blinded evidence of benefit beyond 5\u00a0years","volume":"136","author":"Walsh","year":"2013","journal-title":"Brain"},{"key":"10.1111\/ane.12231-BIB0043|ane12231-cit-0043","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S1474-4422(09)70151-6","article-title":"Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study","volume":"8","author":"Vidailhet","year":"2009","journal-title":"Lancet Neurol"}],"container-title":["Acta Neurologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fane.12231","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ane.12231\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T12:47:17Z","timestamp":1671540437000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ane.12231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,4]]},"references-count":43,"URL":"https:\/\/doi.org\/10.1111\/ane.12231","relation":{},"ISSN":["0001-6314"],"issn-type":[{"value":"0001-6314","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3,4]]}}}