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…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…Biochemical markers of glucocerebrosidase (GCase) deficiency in primary macrophages derived from GBA1 mutation carriers with and without Parkinson’s disease
Objective: The aim of the present study was to assess biochemical markers in primary macrophages that could distinguish patient with Parkinson’s disease linked to mutations…Identification and clinical characterization of GBA variants in the Luxembourg Parkinson’s Study
Objective: Assess the entire set of variants in the glucocerebrosidase (GBA) gene by long-read sequencing in the Luxembourg Parkinson’s study (LuxPARK) and characterize genotype-phenotype correlations…Alteration of lysosomal enzymatic activities in blood of patients with schizophrenia
Objective: To estimate whether alteration of lysosomal activities contributes to schizophrenia (SCZ) pathogenesis, age at onset and risk of developing the disease. Background: SCZ is…
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