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
Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation.
Bhattacharjee S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
Danielsson A et al.
Journal of Clinical Medicine, 2019
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