Mutations in GBA and LRRK2 are not associated with increased inflammatory markers
Objective: To assess central and peripheral cytokines among Parkinson's disease (PD) patients with mutations in the LRRK2 and GBA genes as well as among non-manifesting…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study
Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in 1,000 participants internationally: 300 with LRRK2 (Leucine-rich repeat…Correlating LRRK2 activation status in peripheral blood to urine BMPs in monogenic and idiopathic Parkinson’s disease
Objective: The greatest unmet need in Parkinson’s disease (PD) are disease-modifying treatments. The discovery of monogenic forms of PD has provided invaluable insights into pathomechanisms…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…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Detecting genetic and environmental modifiers of penetrance and disease expression
Objective: The international multicenter LIPAD study is a deep-phenotyping, follow-up study to ROPAD (Rostock Parkinson’s Disease Study) with the aim to systematically characterize Parkinson's disease…
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