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
Recent advances in the genetics of dystonia.
Xiao J et al.
Current Neurology and Neuroscience Reports, 2014
Mutations in CIZ1 cause adult onset primary cervical dystonia.
Xiao J et al.
Annals of Neurology, 2012
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