Screening for Genetic Forms in Non-focal Dystonia Patients in Russian Population.
Objective: To assess clinical spectrum of genetic forms of dystonia (GD) in a cohort of Russian patients with non-focal dystonia. Background: Dystonia is the third…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…The Phenotypic Spectrum of ATP1A3-Related Disorders: A Brazilian Cohort
Objective: To describe a case series of patients with ATP1A3 variants, analyzing their phenotypic presentation and genetic characteristics in Brazil. Background: ATP1A3-related disorders exhibit a complex…Phenotypic Overlap of CACNA1A-Related Disorders
Objective: To highlight the complex genotype-phenotype associations of CACNA1A-related disorders and demonstrate that clinical presentation may not always align with current genetic classifications. Background: Pathogenic…Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…Young onset Dystonia-Parkinsonism, Intellectual Disability & Mineral deposits in Basal ganglia – Think “RAB39B” mutation
Objective: Please consider RAB39B gene when encountering a young onset dystonia Parkinson phenotype alongside non-progressive intellectual disability and brain mineral deposits. This consideration is crucial…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…A new phenotype-genotype correlation for FIG4 gene and Parkinson’s disease
Objective: We present a patient with atypical Parkinson’s disease (PD), carrying a homozygous missense mutation of FIG4. Background: FIG4 is involved in endosomal-lysosomal trafficking and…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …
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