LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the causative mutation in pedigrees with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1. Background: FCMTE is an autosomal dominant neurodegenerative…Contribution of the French registry in the understanding of Wilson disease
Objective: To describe patients from the French Wilson disease (WD) registry. Background: WD is a rare genetic disorder caused by loss of function of the…Antisense FMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Objective: To determine the role of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of FMR1 AGG interspersions and…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…Genetic Markers of Essential Tremor in Restless Legs Syndrome/Willis-Ekbom Disease in Southern Chinese Population
Objective: The aim of this study was to investigate the relationship between genetic markers of essential tremor and primary restless legs syndrome/Willis-Ekbom Disease (RLS/WED) in…Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese
Objective: The aim of the study was to investigate the relationship between 12 single nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in Chinese population. Background:…MicroRNAs as Biomarkers for Parkinson’s Disease
Objective: To identify potential biomarkers for Parkinson’s disease by evaluating miRNA in cerebrospinal fluid samples collected from PD and healthy control subjects. Background: The diagnosis…Whole exome sequencing in essential tremor.
Objective: Objective: To discover novel gene variants associated with essential tremor (ET) using whole exome sequencing (WES). Background: Background: ET, one of the most common…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.