Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples
Objective: To detect the aberrant expression of circulating miRNAs and explore thepotential early diagnostic biomarkers in patients with Parkinson’s disease (PD). Background: In the past…SNCA G51D missense mutation causing juvenile onset Parkinson’s disease
Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…PRECISE-PD: From pathophysiology to precision medicine for Parkinson’s disease
Objective: To propose a mechanism-based progression model of Parkinson’s disease (PD) by combining genetic, imaging, and longitudinal clinical data from a large cohort of patients.…The role of genetic modifiers in Parkinson’s disease-associated LRRK2-G2019S mutation
Objective: The aim of the study is to use genome-wide approach to elucidate genetic variability that influences LRRK2 G2019S penetrance in Parkinson's Disease (PD). Background:…Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort
Objective: We applied a genetic panel targeting genes causative of NDDs, but we also included several risk factor genes, to assess the efficacy of a targeted…Using whole genome sequencing and intronic sequence analysis to identify pathogenic variants in Parkin-related Parkinson’s Disease
Objective: To clarify the genetic cause of autosomal recessive early-onset Parkinson’s Disease (EOPD) for which only a single heterozygous coding mutation could be identified. Background:…Differential Gene Expression in Parkinson Disease and Chronic Traumatic Encephalopathy
Objective: The research would like to determine if similar overexpressed genes between CTE and PD may explain the occurrence of parkinsonism in CTE. This was…Comparison of Gene Expression in Parkinson’s Disease and Bipolar Disorder
Objective: The aim of this research is to compare the overexpressed genes in patients with Parkinson's Disease (PD) and patients with Bipolar Disorder (BD) versus…Associations of microtubule associated protein tau (MAPT) H1 subhaplotypes and the MAPT H2 haplotype with demographic and clinical features in Parkinson`s disease
Objective: To assess associations of microtubule associated protein tau (MAPT) H1 subhaplotypes and the H2 haplotype with clinical features in patients with Parkinson`s disease (PD).…Variants in the beta-Glucocerebrosidase A (GBA) gene in German patients with Parkinson´s disease
Objective: To characterize GBA variants in a cohort of German patients with PD. Background: GBA encodes the lysosomal enzyme beta-glucocerebrosidase A. GBA mutations cause the lysosomal…
