相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in GNAL cause primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2013)
Late onset rest-tremor in DYT1 dystonia
Maria Stamelou et al.
PARKINSONISM & RELATED DISORDERS (2013)
Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort
I. Rubio-Agusti et al.
PARKINSONISM & RELATED DISORDERS (2013)
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression
Fu Bo Cheng et al.
JOURNAL OF NEUROLOGY (2012)
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
Georgia Xiromerisiou et al.
MOVEMENT DISORDERS (2012)
DYT6 Dystonia: Review of the Literature and Creation of the UMD Locus-Specific Database (LSDB) for Mutations in the THAP1 Gene
Arnaud Blanchard et al.
HUMAN MUTATION (2011)
Tremor-Some Controversial Aspects
Niall P. Quinn et al.
MOVEMENT DISORDERS (2011)
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
Fabienne Clot et al.
NEUROGENETICS (2011)
Overview of primary monogenic dystonia
Marianna Spatola et al.
PARKINSONISM & RELATED DISORDERS (2011)
DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation
Justus L. Groen et al.
MOVEMENT DISORDERS (2010)
Hereditary Myoclonus Dystonia (DYT11): A Novel SGCE Gene Mutation with Intrafamilial Phenotypic Heterogeneity
Sui H. Wong et al.
MOVEMENT DISORDERS (2010)
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
H. Houlden et al.
NEUROLOGY (2010)
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
Susan B. Bressman et al.
LANCET NEUROLOGY (2009)
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Ana Djarmati et al.
LANCET NEUROLOGY (2009)
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2009)
Cortical excitability in DYT-11 positive myoclonus dystonia
Sabine Meunier et al.
MOVEMENT DISORDERS (2008)
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
Friedrich Asmus et al.
MOVEMENT DISORDERS (2007)
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
NATURE GENETICS (2001)
分享论文
