High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Study on association between physical and genetics role in essential tremor – A case control study
Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation
Objective: To determine interest in genetic testing in Parkinson's disease (PD) patients with deep brain stimulation (DBS). Background: Approximately 27% of early-onset PD patients with…SMPD1 mutations, acid-sphingomyelinase activity and α-synuclein accumulation in Parkinson’s disease
Objective: To study the effects of SMPD1 (sphingomyelin phosphodiesterase-1 gene) variants and acid-sphingomyelinase (ASMase) activity on Parkinson's disease (PD), and the effect of SMPD1 knockdown…Assessment of Parkinson’s disease risk loci as DNA methylation quantitative trait loci
Objective: To gain potential mechanistic insight into the pathogenesis of Parkinson's disease (PD), a map of DNA methylation in normal human brain assessing 486,428 CpG…Analysis of the genetic variability in Parkinson’s disease from southern Spain
Objective: Our study was to assess the contribution of known genes in a cohort diagnosed with either familial (FPD) or early-onset sporadic PD (EOPD) from…Two cases of parkinsonism with atypical genetics
Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression
Objective: To examine the extent to which single nucleotide polymorphisms (SNPs) are associated with motor phenotype and progression in Parkinson's disease (PD). Background: Tremor-dominant (TD)…Deletions at 22q11.2 in idiopathic Parkinson’s disease: A combined analysis of GWAS data
Objective: To verify the reported association of Parkinson's disease(PD) with Chromosome 22q11.2 Deletion Syndrome(22q11.2DS) in series of large, independent idiopathic PD case-control studies. Background: PD…Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors
Objective: To assess the potential of Parkinson's disease (PD) risk prediction using a comprehensive list of genetic and environmental/lifestyle factors associated with PD. Background: Parkinson's…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.