Poly-ADP-ribose polymerase 1 modulates mitochondrial fission via LRRK2 in a rotenone-induced Parkinson’s disease model
Objective: To clarity the effects and mechanism of poly-ADP-ribose polymerase 1(PARP1) in regulating mitochondrial fusion/fission in a rotenone-induced Parkinson's disease (PD) model. Background: Accumulating evidences…First clinical and genetic analysis of LRRK2 G2019S, R1441G/C/H/, I2020T and Y1699C mutations in Costa Rican patients with Parkinson’s disease
Objective: To assess the frequency of G2019S, R1441G/C/H, I2020T and Y1699C mutations in a Costa Rican cohort of Parkinson’s disease (PD) cases and controls. Background:…Virtual Assessment of LRRK2 Carriers to Optimize Research in Parkinson Disease (VALOR-PD): A Comparison to Traditional Cohorts
Objective: To compare a national virtual cohort of LRRK2 G2019S carriers, identified via a personal genetics company, to existing traditional cohorts. Background: Advancements in personal…Rare variants of the LRRK2 gene in the haplotype as one of the potential risk factors for endemic parkinsonism in a small isolated region in the Czech Republic
Objective: The aim of the study was to investigate a co-occurence of rare variants in set of genes frequently associated with parkinsonism. Background: The increased…Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients
Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…LRRK2 p.G2019S and p.N2081D variants as modifiers of glucocerebrosidase activity
Objective: To examine whether the activity of the lysosomal enzyme glucocerebrosidase (GCase) is associated with LRRK2 variants. Background: Mutations in GBA (which encodes GCase) and…Genetic study of patients with Parkinson’s disease subjected to second line therapies
Objective: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be…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:…BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews
Objective: Establish an Industry-Academic collaboration to identify factors contributing to disease progression in PD. Background: Ashkenazi Jews (AJ) are an excellent ethnic group in which…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…
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