Associated Papers
Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
Ramage DE et al.
Nature Communications, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A et al.
American Journal of Human Genetics, 2021
Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.
Gowda VK et al.
Indian Journal of Pediatrics, 2021
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
Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.
Holla VV et al.
Parkinsonism & Related Disorders, 2020
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A et al.
Journal of Molecular Neuroscience : Mn, 2017
Genetic screening of THAP1 in primary dystonia patients of India.
Giri S et al.
Neuroscience Letters, 2017
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
LeDoux MS et al.
Neurology. Genetics, 2016
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
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