Associated Papers
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A et al.
American Journal of Human Genetics, 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
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
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
Clot F et al.
Neurogenetics, 2011
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