Expression of OX40 and OX40 serum level in patients with Parkinson’s disease
Objective: Study the expression of OX40 gene and its serum levels could be measured to predict and confirm diagnosis of Parkinson's disease and help develop new…Neuromelanin Magnetic Resonance Imaging of the Substatia Nigra in LRRK2 -related Parkinson’s disease
Objective: Our study aimed to evaluate neuromelanin-Magnetic Resonance signal changes in PD patients carrying a LRRK2 mutation. Background: Specific magnetic resonance (MR) sequences are able to…Parkinsonian Features in a Cohort of Gaucher’s Disease (GD) Patients and Relatives.
Objective: to investigate the prevalence and clinical features of parkinsonism in a cohort of 21 GD patients and their relatives. Background: GD is a lysosomal…Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7
Objective: In this study we investigate the cellular mechanism underlying the Parkinson’s disease (PD)-associated mutation c.192G>C in PARK7 and present a compound treatment that rescues…Full sequencing and GWAS markers analysis of SNCA in RBD and progression to synucleinopathies.
Objective: To study the role of SNCA variants in REM sleep Behavior Disorder (RBD) and progression to synucleinopathies. Background: Individuals with properly diagnosed idiopathic RBD…Characterization of Noncoding Variant(s) Driving Genome-Wide Association of the PARK10 Locus in Autopsy-Proven Parkinson Disease and Controls.
Objective: Confirm the PARK10 locus as a major GWAS locus in autopsy-confirmed (AC) PD and AC controls and identify potential noncoding variants driving the association. …Genetic variants influencing dyskinesia; potential consequences for treatment in Parkinson’s disease
Objective: To examine the association between dyskinesia and haplotypes in the genes of three dopamine receptors (DRD1, DRD2 and DRD3) and of the Brain Derived…Data driven analysis for exploring phenotypic differences in patients with Parkinson’s disease with or without genetic mutations.
Objective: To explore, using a data driven statistical analysis method, discriminating phenotype features of disease in a large group of patients with Parkinson’s disease (PD)…A member of the HSP40/DNAJ family is a novel gene for early-onset parkinsonism
Objective: We aim to implicate novel genes/mutations using whole-exome sequencing (WES) in selected pedigrees. Background: Mutations have been identified in only 30% of familial parkinsonism.…Genome-wide DNA methylation analysis reveals epigenetic perturbations in Parkinson disease.
Objective: Several environmental exposures are known to affect the risk for PD. Because DNA methylation is affected by environmental variables, we investigated whether brain region-specific…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.