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
39929834 (PubMed )
Supplement: 41467_2025_56782_MOESM4_ESM.xlsx › THAP1_Deep_Mutational_Scan
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
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
da Silva-Junior FP et al.
Journal of the Neurological Sciences, 2014
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