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)…From foot to head: look after your socks !
Objective: We reported the case of a 24 yo man, adressed to the neurologist by genetician for an unscrambled examination justified by a juvenile cataract…Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…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…Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…The role of GBA1 mutations in the relationship between GBA1 and alpha-synuclein in Parkinson disease
Objective: The aim of the study was to understand how the E326K GBA1 mutation results in an increased risk for Parkinson disease, through influencing the…Sex differences in vascular risk factors for Parkinson’s disease
Objective: Our aim is to illustrate the incidence of vascular risk factors (VRF) in a cohort of patients with confirmed Parkinson's disease (PD) and characterize…Mitochondrial and autophagy alteration in a new fatty acid hydroxylase-associated neurodegeneration (FAHN) model
Objective: Establishing a FAHN Drosophila model to identify cellular disease mechanisms. Background: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an early-onset neurodegenerative disease that manifests brain…
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