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…Characterizing Global Cohorts with Monogenic Parkinson’s Disease
Objective: To clinically and genetically characterize a global sample of subjects with monogenic Parkinson’s disease (mPD) and unaffected mutation carriers. Background: Publications on patients with…The role of peripheral T- and B-lymphocytes in LRRK2-mediated Parkinson’s disease
Objective: To test the hypothesis the neurodegenerative cascade in the CNS that leads to Parkinson’s disease (PD) is initiated by signals emanating from the peripheral…Distinct compensatory and maladaptive wiring patterns in genotypic Parkinson’s disease
Objective: Although disease networks have been identified in Parkinson’s disease (PD) using functional imaging, it is unclear whether these represent maladaptive or compensatory responses to…Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?
Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…
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