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:…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…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…Blood Lipid Biomarkers in Early Parkinson Disease and Parkinson Disease with Mild Cognitive Impairment
Objective: This study aims to investigate the association between comprehensive blood lipid biomarkers and Parkinson's disease (PD). Background: Studies have shown that the serum levels…The Correlation Analyses of Parkinson’s Disease with Serum Homocysteine, Folic Acid and Vitamin B12
Objective: To explore the associations of serum homocysteine (Hcy), folic acid (FA) and vitamin B12 (VitB12) levels with the severity of Parkinson's disease (PD), as…Serum Metabolomic Characterization of PLA2G6-associated Dystonia-Parkinsonism: a case-control biomarker study
Objective: PLA2G6 is the causative gene for autosomal recessive Dystonia-Parkinsonism (PARK14). This case-control biomarker study aimed to test serum metabolomics of patients diagnosed as PARK14.…
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