Associated Papers
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A et al.
Biochimica Et Biophysica Acta, 2014
Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
Campagne S et al.
Nucleic Acids Research, 2012
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A et al.
Human Mutation, 2011
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB et al.
European Journal of Neurology, 2011
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H et al.
Neurology, 2010
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