Cholinergic Innervation and Cognitive Functioning in De Novo Parkinson’s Patients with GBA Variations
Objective: To explore the regional cholinergic innervation and clinical characteristics of de novo Parkinson’s disease (PD) patients carrying GBA variants. Background: The most common genetic…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…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).…A large-scale full GBA1 gene screening in Parkinson’s disease in the Netherlands: 18 novel and 1 ‘Dutch’ variant
Objective: Assess the entire GBA1 gene in Parkinson’s disease from a single large population. Background: The commonest genetic risk factor for Parkinson’s disease known to…Human induced pluripotent stem cells (iPSCs) as a model for the study of neural development in Parkinson’s Disease patients carrying GBA mutations
Objective: The aim of this study is to evaluate in vitro development of human induced pluripotent stem cells (iPSCs) [1] derived from fibroblasts of Parkinson’s…Variants in the saposin D domain of prosaposin gene are linked to Parkinson’s disease
Objective: To investigate whether the variants of prosaposin can be linked to Parkinson's disease (PD) [1]. Background: Recent growing investigations have promoted the evidence of…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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