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…Safety, Tolerability, and Pharmacodynamic Profile of DNL201 at dose levels demonstrating LRRK2 inhibition in Parkinson’s Disease Patients with and without LRRK2 mutations
Objective: To evaluate safety, tolerability, and target engagement of DNL201, a LRRK2 inhibitor, in Parkinson’s disease (PD) patients. Background: Mutations in LRRK2 impact both familial…Phase I Study Design of a Leucine-Rich Repeat Kinase 2 (LRRK2) Antisense Oligonucleotide, for Parkinson’s Disease
Objective: We will present the preclinical efficacy and safety data and the design of the first in human trial of an antisense oligonucleotide (ASO) for…Longitudinal clinical and imaging characteristics of non-manifest LRRK2 carriers: The PPMI cohort
Objective: To examine longitudinal change in the clinical characteristics of non-manifesting LRRK2 mutation carriers (NMCs) compared to healthy controls (HC) in the Parkinson’s Progression Markers…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…
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