Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium
Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…Clinical characterization of Parkinson’s disease patients with LRRK2 mutation: Insights from a Portuguese reference center
Objective: This study aims to provide a clinical characterization of Parkinson's disease (PD) patients with LRRK2 mutations, who are being treated at a Portuguese reference…Profiling the biochemical lysosomal activities in blood of patients with LRRK2 G2019S associated Parkinson’s disease
Objective: To replicate the previous study of Alcalay and coauthors on estimation of lysosomal enzymes activities [1] with additional estimation of corresponding substrates in patients…Digenic R1441G-LRRK2 and Parkin mutations in Parkinson’s Disease: first clinicopathological case report.
Objective: To report a clinicopathological case of digenic PD with R1441G- LRRK2 and PRKN mutations. Background: Digenic inheritance of R1441G-LRRK2 and PRKN mutation is extremely…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…WES analysis of Parkinson’s disease patients with Cancer
Objective: To provide evidences for the overlapping mechanistic basis between Parkinson's disease (PD) and cancer(CA), we explored the common genomic mechanisms between the two disease.…MicroRNA expression misregulation in iPSC-derived dopaminergic neurons from sporadic and LRRK2-associated Parkinson disease patients
Objective: To investigate whether miRNA expression alterations occur in iPSC-derived DAn from sporadic PD (sPD) as well as monogenic LRRK2-associated PD patients. Background: MicroRNA (miRNA)…A review of modifiers of Parkinsonism in the Leucine-rich repeat kinase 2 (LRRK2) population
Objective: To review and examine the most current identified modifiers of Parkinsonism in the LRRK2 population. Background: LRRK2 is a protein with multiple domains and…LRRK2 G2019S mutation carrier with an unusual phenotype: Progressive logopenic aphasia
Objective: To report the case of a patient carrying the G2019S mutation of the LRRK2 gene presenting with progressive logopenic aphasia and not manifesting PD…Exome sequencing in the Czech patients with early-onset Parkinson’s disease
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson's disease (EOPD). Background: Currently, there are four…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.