Inter- and intra-day variability in β-Glucocerebrosidase activity and pathway biomarkers in healthy volunteers and patients with Parkinson’s disease with a GBA1 mutation
Objective: Characterize inter- and intra-day variability of β-glucocerebrosidase (GCase) activity, using a live-cell assay, and glucosyl-β sphingosine levels in healthy volunteers (HVs) and Parkinson’s disease…AAV-mediated gene therapy for GBA-PD
Objective: Development of a gene therapy-based drug for treatment of GBA-PD, a genetic subtype of Parkinson’s disease Background: Mutations in GBA1, the gene encoding glucocerebrosidase…Long term evaluation of gluten-free diet in Parkinson´s disease patients
Objective: The primary aim of the project was to evaluate the effect of long-term administered gluten-free diet (GFD) on motor symptoms of Parkinson's disease (PD).…Interaction of GCase and ganglioside GM1 in the aggregation of α-Synuclein
Objective: The objective of this work is to investigate the relationship between ganglioside GM1 levels and α-synuclein aggregation in the context of GBA1 mutations. Background:…The functional and lipidome signature of GBA1 mutant dopaminergic neurons
Objective: The work presented here aims to link the lipidome changes leading to functional defects, and eventual cell death, in GBA1 mutant dopaminergic neurons derived…Baseline lipid traits and the clinical characteristics and disease progression in Huntington’s disease
Objective: To clarify the relationship between the baseline serum lipid traits and the clinical characteristics and disease progression in a well-established cohort of Chinese HD…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…Movement Disorders in Cerebrotendinous Xanthomatosis
Objective: To report the type of movement disorders, Neuroimaging, and prognosis in nine adult patients with neurological CTX. Background: Cerebrotendinous Xanthomatosis (CTX) is a lipid…Plasma glucosylsphingosine in GBA1 E326K, N370S and L444P mutation carriers with and without Parkinson’s disease
Objective: To measure plasma glucosylsphingosine levels in heterozygous carriers with and without Parkinson's disease (PD) of three variants in GBA1: 1. E326K (risk factor for…Adult onset cerebrotendinous xanthomatosis (CTX) with parkinsonism responding to bilateral subthalamic nucleus deep brain stimulation
Objective: To describe a young male diagnosed with cerebrotendinous xanthomatosis who responded favourably to subthalamic nucleus deep brain stimulation (STN-DBS). Background: Cerebrotendinous Xanthomatosis is an…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- …
- 8
- Next Page »