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…Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation
Objective: To present the case of a childhood-onset hemidystonia carrying a homozygous SLC6A3 missense mutation. Background: Dystonia is a movement disorder characterized by sustained or…A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3
Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…A case of Bainbridge-Ropers syndrome in a child.
Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation. Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically…
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