Genetic landscape of dystonia in Asian Indian patients
Objective: To identify potentially pathogenic genomic variations associated with dystonia phenotypes in Asian Indian patients with dystonia. Background: The Asian Indian population is underrepresented in…Mutation screening and burden analysis of AOPEP in dystonia in a Chinese population
Objective: To explore the genetic involvement of AOPEPin dystonia in East Asian population. Background: Recently, AOPEPwas identified to be a novel likely causative gene of autosomal recessive dystonia.…Successful bilateral pallidal stimulation in a young adult with DYT-27: A case report
Objective: We present a 21 year old woman with DYT-27 dystonia who received bilateral pallidal deep brain stimulation. Background: Dystonia is a neurological disorder characterized…Combined dystonia in a patient carrying a novel ATL1 gene variant.
Objective: To describe a patient with a childhood-onset combined dystonia who was found to be a carrier of a novel mutation in the ATL1 gene.…Deep Brain Stimulation for Dystonia: A Single-center Experience
Objective: To report on deep brain stimulation (DBS) outcomes in dystonia and related movement disorders at Mass General Brigham (MGB) hospitals. Background: Dystonia is a…A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.
Objective: To report a new mutation in the YY1 gene in a patient with Gabriele-de Vries syndrome, in which dystonia and choreoathetosis were the most…GNAO1 related movement disorders: 2 longitudinally-followed cases
Objective: To describe the clinical course, phenomenology, and treatment response in two patients with GNAO1 related movement disorders. Background: Since the initial report of 4…Analysis of dystonia and rating scales in children and young adults with SGCE myoclonus dystonia
Objective: The aim of this study was to analyze the clinical characteristics of dystonia (Axis I) and to explore rating tools for writing, walking and running…Dystonia due to GM3 synthase deficiency
Objective: GM3 synthase deficiency has been rarely reported to cause dystonia. We report three cases of affected siblings involving a prominent dystonic phenotype. Background: Gangliosides…A novel ANO3 variant associated with generalized dystonia in an elderly woman
Objective: To report a case of dystonia that adds to the growing body of literature regarding the genotypic variants associated with the ANO3 gene implicated…
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