Parkinson’s disease (PD) associated with the E46K mutation in the SNCA gene, twenty years after
Objective: To provide an updated overview of Parkinson’s disease (PD) associated with E46K mutation carriers in the SNCA gene 20 years after its description, incorporating…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…The use of modelling in Huntington’s disease
Objective: Summarising the development of mathematical models to further HD research through characterisation and disease progression. Background: There have been major advances in HD research…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…Global presence and penetrance of CSF1R-Related disorder
Objective: The study aimed to assess the occurrence of CSF1R-related disorder (CSF1R-RD) and present the first haplotype analysis. Background: Since the discovery of CSF1-R gene…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- 6
- …
- 19
- Next Page »