Associated Papers
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D et al.
Human Molecular Genetics, 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
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Hollstein R et al.
Human Molecular Genetics, 2017
Phenotypes and genetic architecture of focal primary torsion dystonia.
Groen JL et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS et al.
Parkinsonism & Related Disorders, 2012
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
Song W et al.
Journal of the Neurological Sciences, 2011
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Groen JL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
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