Polymorphisms in Prosaposin gene are associated with familial and early-onset Parkinson’s disease: A case-control association study and meta-analysis
Objective: To investigate the role of the PSAP gene in PD patients in Taiwan, including familial PD and early-onset Parkinson’s disease. Background: Mutations in the…Investigation of Modifiers of β-Glucocerebrosidase in Cell Models of Parkinson’s Disease
Objective: We firstly aim to identify modifiers of β-glucocerebrosidase (GCase) activity and expression in Parkinson’s disease (PD) relevant cell models. We secondly aim to ascertain…GLA-associated early-onset Parkinson’s disease: the mimicry between Fabry disease and parkinsonisms
Objective: To characterize an early-onset Parkinson’s disease (EOPD) patient with atypical clinical phenotype. Background: Genome sequencing is allowing new Parkinsonian Syndromes (PS)-associated genes identification. However,…Diagnosis of Niemann-Pick type C disease: adult onset form
Objective: We present a case of Niemann-Pick disease type C (NP-C) with adult onset. We review the clinical presentation, diagnosis and treatment of this rare…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…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…
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