Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…DBS for a patient with KMT2B-SHANK2 related dystonia
Objective: Describe a case of deep brain stimulation (DBS) outcome for a patient with pathogenic variants of Shank2 and KMT2B genes. Background: Prior reports have…Deep Brain Stimulation in Woodhouse Sakati Syndrome:A Single Institution Retrospect Analysis
Objective: Evaluation of clinical response in patients with WSS-associated generalized dystonia following DBS to GPI Background: Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease,…PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.
Objective: To report a rare presentation of a rare disease and illustrate the range of phenotype seen in PLA2G6-associated dystonia-parkinsonism (PLADP). Background: PLA2G6 encodes a…Deep Brain Stimulation in Generalized Dystonia Caused by PRKRA Mutation
Objective: Dystonia is a hyperkinetic movement disorder with a complex pathophysiology. The medical treatment includes pharmacological treatment, including botulinum toxin (BoNT), which is considered the…Internal globus pallidus deep brain stimulation in ACTB-related deafness-dystonia
Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review…Two cases of severe generalized dystonia in IRF2BPL and response to treatment
Objective: We describe two patients who presented with progressive, generalized dystonia and associated neurodevelopmental regression in early childhood found to have pathogenic variants in IRF2BPL.…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.…
- « Previous Page
- 1
- …
- 12
- 13
- 14
- 15
- 16
- …
- 29
- Next Page »