Genetics of Primary Torsion Dystonia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-010-0107-5.pdf
Reference36 articles.
1. Bressman SB, Sabatti C, Raymond D, et al.: The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000, 54:1746–1752.
2. Albanese A, Barnes MP, Bhatia KP, et al.: A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 2006, 13:433–444.
3. Schneider SA, Bhatia KP, Hardy J: Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009, 24:490–499.
4. Fuchs T, Gavarini S, Saunders-Pullman R, et al.: Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009, 41:286–288. These authors discovered the gene responsible for DYT6 dystonia. Mutations in the THAP1 gene (chromosome 8) were shown to be associated with autosomal dominant, mixed-onset primary torsion dystonia.
5. Bressman SB, Raymond D, Fuchs T, et al.: Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009, 8:441–446.
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