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…The potential role of monocytes a-synuclein and lipids as predictors of PD.
Objective: To study the role monocytic A-syn and lipids as biomarkers of PD. Background: A chronic pro-inflammatory pattern is present in Parkinson’s disease (PD) patients’…Effects of Sample Collection Methods on Skin Sebum Volatilome Composition in Parkinson’s Disease Patients – a Methodological Pilot Study
Objective: To assess replicability of skin sebum volatile organic compound (VOC) composition 1) within the same subjects; 2) in frozen vs fresh samples, and 3)…Association between environmental phthalates exposure and gut microbiota and metabolome in dementia with Lewy bodies
Objective: We examined the association between environmental phthalates (PAEs) exposure and gut microbiota and metabolome in dementia with Lewy bodies (DLB). Background: Alongside genetic factors,…Interim Analysis of the Feasibility of Mediterranean-Ketogenic Dietary Interventions in Parkinson’s Disease
Objective: To assess the feasibility of combining Mediterranean and ketogenic dietary principles in persons with Parkinson’s disease (PwP). Background: Dietary interventions have been proposed as…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…
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