Shakya Bhattacharjee Monty A Silverdale Michael Bonello Julian Evans Christopher Kobylecki
10.5334/tohm.774
Tremor Other Hyperkinet Mov (N Y)
2023 Aug 22;13:23.
thap1 deep brain stimulation dystonia mutation novel
CC BY
https://pubmed.ncbi.nlm.nih.gov/37637848/
Botulinum Toxins Deep Brain Stimulation Dystonic Disorders / genetics Dystonic Disorders / therapy Torticollis
Botulinum Toxins Deep Brain Stimulation Dystonic Disorders / genetics Dystonic Disorders / therapy Torticollis Case Reports Research Support, Non-U.S. Gov't Adult Apoptosis Regulatory Proteins Child DNA-Binding Proteins Female Globus Pallidus Humans Young Adult Botulinum Toxins THAP1 protein, human DNA-Binding Proteins Apoptosis Regulatory Proteins
PMC10453957
37637848
Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation
2023