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Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
[BACKGROUND] Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are…
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Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment.
Patients with Parkinson's disease and focal dystonia have difficulty in generating and preventing movement. Reaction time (RT) and stop signal reaction time (SSRT) measure the speed to initiate and stop a movement respectively. We developed…