Neuroimaging in Glucocerebrosidase-associated parkinsonism: a systematic review
Objective: To critically review studies applying neuroimaging to Glucocerebrosidase (GBA)-associated parkinsonism. Background: Mutations in the GBA gene cause Gaucher disease (GD) and constitute the most…The development of a screening tool to identify movement disorders in patients with inborn errors of metabolism
Objective: To develop a user-friendly rapid screening tool for non-movement disorder specialists to detect movement disorders in patients with inborn errors of metabolism. Background: Movement…Prevalence of GBA parkinsonism in Slovak Parkinson’s disease population
Objective: Our study aimed to determine the prevalence of GBA parkinsonism in the Slovak population with Parkinson's disease (PD). Background: In recent years, there has…The frequency of glucocerebrosidase mutations in a subgroup of early-onset Parkinson’s disease patients in the Korean population
Objective: We investigated the frequency of GBA mutations in the Korean patients with early-onset Parkinson’s disease (PD). Background: Glucocerebrosidase (GBA) mutations are associated with increased…The potential of GBA1 knock-out medaka as a model animal in the search for therapeutic compounds for GBA1-related α-synucleinopathy
Objective: This study was performed to search for therapeutic agents for GBA1-related α-synucleinopathy. Background: The GBA1 gene is the causative gene of Gaucher’s disease (GD).…Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations
Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…Lysosomal storage disorder genes variants in Parkinson’s disease: a large cohort study in Chinese mainland population
Objective: In this study, we investigated the association between rare variants in lysosomal storage disorders (LSDs) genes and Parkinson’s disease in large Chinese mainland cohorts.…Lipid metabolism alterations in the lysosomal membrane promotes chaperone-mediated autophagy dysfunction and alpha-synuclein pathology in Parkinson’s disease associated to GBA
Objective: The objective of this study was to generate and characterize a new in vitro neuronal model of Parkinson's diseases associated to GBA (PD-GBA) that…Genotype-Phenotype Correlations in Niemann-Pick Disease Type C
Objective: To evaluate genetic and phenotypic variability and correlations in adult Niemann Pick disease type C (NPC) patients. Background: NPC is an autosomal recessive inherited…GPNMB protein levels in CNS are modulated by PD risk variant rs199347
Objective: This study evaluates protein quantitative trait loci (pQTL) effect of single nucleotide polymorphism (SNP) rs199347 in modulating glycoprotein non-metastatic melanoma protein B (GPNMB) expression…
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