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
Blepharospasm in a multiplex African-American pedigree.
Xiao J et al.
Journal of the Neurological Sciences, 2016
THAP1 mutations in a Greek primary blepharospasm series.
Xiromerisiou G et al.
Parkinsonism & Related Disorders, 2013
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