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…Ambroxol treatment of primary macrophages derived from patients with GBA-associated Parkinson’s disease
Objective: The aim was to evaluate the effectiveness of the restoration of GCase activity in macrophages from GBA-PD patients using pharmacological chaperone ambroxol. Background: Mutations…Prevalence of Fabry disease among patients with Parkinson’s disease
Objective: To determine the prevalence of Fabry disease (FD) among patients with Parkinson’s disease (PD). Background: Increased prevalence of PD disease has been previously reported…Exosomal alpha synuclein secretion is beneficial for cellular models of Kufor-Rakeb syndrome
Objective: The purpose of this study is to investigate the effect of induction of exosomal a-syn secretion on PARK9-mediated neurotoxicity. Background: Kufor-Rakeb syndrome (KRS) is…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…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…
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