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…Increased alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease
Objective: To assess glucocerebrosidase and alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease with and without GBA1 mutation. Background: Parkinson’s disease (PD)…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…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…
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