Associated Papers
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F et al.
Brain : a Journal of Neurology, 2022
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Isolated dystonia: clinical and genetic updates.
Domingo A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 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
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Song W et al.
Journal of the Neurological Sciences, 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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