Genetic analysis of DNA methylation and hydroxymethylation genes in Parkinson’s disease
Objective: To investigate the relationship between DNA methylation/hydroxymethylation genes and Parkinson’s disease (PD), we conducted genetic analysis in a relatively large Chinese population. Background: PD…SNP assessment and gene expression analysis of alpha-synuclein (SNCA), LRRK2 gene and parkin (PRKN) gene in chewing tobacco exposures and find out the risk of Parkinson’s disease
Objective: We aimed to find out the molecular assessment of the risk of Parkinson’s disease (PD) in tobacco exposure through the SNP and gene expression…The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
Objective: To investigate whether the combination of the X-linked dystonia-parkinsonism (XDP) haplotype and skewed X-chromosome inactivation (XCI) underlies the penetrance of XDP in women. Background:…Expression profiles from CD14+ monocytes in PD patients with GBA mutations
Objective: To study the pathogenic mechanisms associated with mutations of the GBAgenes in Parkinson’s disease (PD). Background: Mutation of GBA(encoding for glucocerebrosidase, GCase) is one of…GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
Objective: To characterize a patient with GBAand ATP13A2gene mutations. Background: Mutations of GBA(Glucocerebrosidase) and ATP13A2(P5-ATPase) genes are risk factors for Parkinson’s disease (PD). Homozygous mutations…A coding VPS13C haplotype is associated with reduced risk for Parkinson disease
Objective: To study the role of coding VPS13C variants in a large cohort of late-onset PD (LOPD) patients. Background: VPS13C is within a risk locus…Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations
Objective: To characterize the phenotypic and genotypic spectra in Wilson disease (WD) and to investigate the relationships between the neurological and hepatic phenotypes and the…GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in…A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease
Objective: The aim of this study to understand and define genetic overlap between multiple system atrophy (MSA) and autoimmune diseases such as Crohn’s disease (CD),…Sleep Aspects on Video-Polysomnography in P.A53T SNCA Mutation Carriers
Objective: To determine whether REM sleep behavior disorder (RBD) and other sleep abnormalities occur in carriers of the p.A53T alpha-synuclein gene (SNCA) mutation, the prototypical…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.