Association of DAGLB Variants with Early-Onset Parkinson’s Disease Across Populations
Objective: Here, we investigated the contribution of DAGLB variants to PD across diverse ancestries using large-scale data from the Global Parkinson’s Genetics Program (GP2). Background:…Evaluation of Cardiac Markers and Clinical Metrics in Friedreich’s Ataxia
Objective: To evaluate cardiac specific markers and clinical metrics associated with Friedreich’s Ataxia (FA) and FA cardiomyopathy severity and progression. Background: Friedreich’s Ataxia is a…A Novel SPG11 Splice-Site Mutation in Hereditary Spastic Paraplegia: Clinical, Radiologic, and Genetic Insights from the First Philippine Case
Objective: To report the first genetically confirmed case of SPG11-associated hereditary spastic paraplegia (HSP) in the Philippines, featuring a previously undocumented splice-site mutation and comprehensive…Severe Dopaminergic Deficits in Early Stage Genetically-Confirmed Perry Syndrome
Objective: To describe the evidence for severe dopaminergic deficit in early stages of genetically confirmed Perry syndrome Background: PS is a neurodegenerative disease comprised of…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…Case Series of 13 Hereditary Ataxia Patients From The Chiloe Islands, Chile.
Objective: To describe a case series of HA patients from Chiloé, identifying genetic variants and analyzing phenotypes. Background: The Chiloé Islands, located in southern Chile,…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…Co-occurrence of Spinal Muscular Atrophy Type 2 and Huntington’s Disease
Objective: To describe a unique case of co-occurring SMA2 and HD in a patient. Background: Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder caused…
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