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…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…Expression profiles from CD14+ monocytes in PD patients with GBA mutations
Objective: To study the pathogenic mechanisms associated with mutations of the GBAgenes in Parkinson’s disease (PD). Background: Mutation of GBA(encoding for glucocerebrosidase, GCase) is one of…GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
Objective: To characterize a patient with GBAand ATP13A2gene mutations. Background: Mutations of GBA(Glucocerebrosidase) and ATP13A2(P5-ATPase) genes are risk factors for Parkinson’s disease (PD). Homozygous mutations…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…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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