5Bressman SB, Sabatti C, Raymond D, et al. The DYT1 pheno- type and guidelines for diagnostic testing [J]. Neurology, 2000,54(9) : 1746-1752. 被引量:1
6Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6) [J]. Ann Neurol, 2010,68(4) : 554-559. 被引量:1
7Granata A,Warner TT. The role of torsinA in dystonia [J]. Eur J Neurol,2010,17 Suppl 1:$81-87. 被引量:1
8Kamm C, Fischer H, Garavaglia B, et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216 H polymorphism[J]. Neurology, 2008,70 (23 ) : 2261- 2262. 被引量:1
9Calakos N, Patel VD, Gottron M, et al. Functional evi- dence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia [J]. J Med Genet, 2010,47 (9) : 646-650. 被引量:1
10Albanese A, Asmus F, Bhatia K, et al. EFNS guidelines on diagnosis and treatment of primary dystonias[J]. Eur J Neurol,2011,18(1) :5-18. 被引量:1