Association of a new pathogenic variant of LRRK2 with modifying lysosomal genes in a family with Parkinson’s disease
Objective: To characterize a Parkinson’s disease (PD) family with high recurrence of the disease. Background: Parkinson’s disease (PD) is a complex neurodegenerative disorder in which…Overcoming clinical research challenges during a pandemic: selection and implementation of digital phenotyping solutions in a natural history study of G2019S LRRK2 Parkinson’s disease.
Objective: To identify candidate wearable devices or digital solutions suitable for conducting the Timed Up and Go (TUG) test and evaluate real-world performance remotely during…LRRK2 Inhibition by BIIB122 / DNL151: Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Ph 1 Healthy Volunteer and Ph 1B Parkinson’s Disease Trials
Objective: To evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamics of the LRRK2 inhibitor, DNL151 (BIIB122), in healthy volunteers (HVs) and Parkinson’s disease (PD) patients. Background:…Defining LRRK2-PD subsets based on olfactory function in the PPMI
Objective: A major goal of the Parkinson Progression Marker Initiative (PPMI) is to identify clinical and biomarker defined disease subsets that may demonstrate differing disease…Increased stroke risk in Parkinson’s disease patients with LRRK2 mutations
Objective: To determine whether genetic forms of Parkinson’s Disease (PD), such as LRRK2-mutated PD (LRRK2-PD) and GBA-mutated PD (GBA-PD), have a different vascular risk compared…Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity
Objective: To explore the association between GCase activity, PD phenotype and probability for prodromal PD among PD and non-manifesting carriers (NMC) of mutations in the…Investigating LRRK2 and GBA genetic variability in underrepresented populations
Objective: To address the pressing need through promoting collaborative translational work evaluating genetic signatures in Latinx and African-American (AA) participants with and without Parkinson’s disease…Reduced serum PRDX3 levels are a biomarker for Asian LRRK2 carriers in Parkinson’s disease
Objective: We measured serum peroxiredoxin-3 (PRDX3) levels in Parkinson’s disease (PD) patients with and without LRRK2 risk variants, hypothesizing that PD LRRK2 carriers will show…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…
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