GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Dysphagia in Adults with Niemann-Pick Disease Type C
Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…Looking “cherry red spot myoclonus” in the eyes
Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…Impaired lysosomal catabolism of alpha-synuclein in parkinsonian LRRK2(R1441G) mutant mouse embryonic fibroblasts
Objective: Using a unique fluorescence-based flow cytometry assay on LRRK2(R1441G) mutant mouse embryonic fibroblasts (MEFs) to elucidate whether pathogenic LRRK2 mutation affects cellular lysosomal degradation…An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report
Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease. Background: GD is an autosomal recessive lysosomal disorder,…FDG-PET and metabolomics in PD-associated GBA variants
Objective: To assess the clinical, cognitive, metabolic, and imaging phenotypes of PD patients carrying the variants p.E365K and p.T408M in the GBA gene (NM_000157.3). Background:…The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population
Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in…Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)
Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…
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