Analysis of LRRK2 Exonic Variants in Parkinson’s Disease in Chinese Population
Objective: To investigate the frequency of multiple LRRK2 variants in Parkinson's disease (PD) cohort, and to explore the effect of LRRK2 variants on the occurrence…Investigating the cellular consequences of the G2385R LRRK2 variant
Objective: The objective of this study is to characterise the biochemical and cellular impact of the G2385R coding variant in LRRK2, a risk variant for…Association of sequence alterations in the promoter region of the RAB7L1 gene with lysosomal hydrolase activity in blood and reduced risk of Parkinson disease
Objective: The aim of this case-control study was to examine the association between SNPs located in the promoter region of the RAB7L1 gene and Parkinson's…Lysosomal Lipid Dysregulation in Parkinson’s Disease: Genetic and Medication Effects in CSF Metabolomics
Objective: Define lipid signatures in sporadic, LRRK2, and GBA1 PD and pre-manifest carriers and assess medication impacts. Background: Lysosomal dysfunction contributes to PD, particularly in…Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations
Objective: The influence of genetics has been primarily studied in European populations, limiting our understanding of the genetic landscape of PD in the African and…Evaluation of the Pharmacodynamic Effects of BIIB122/DNL151 in Participants with LRRK2 mutation-driven Parkinson’s disease (BEACON Study)
Objective: To characterize the biomarker effects of BIIB122/DNL151 in participants with LRRK2 pathogenic mutations diagnosed with Parkinson’s disease (LRRK2-PD). Background: BIIB122/DNL151 is a CNS-penetrant small…The Role of Polygenic Background and APOE E4 in Monogenic and Idiopathic Parkinson’s Disease
Objective: To assess the impact of 1) polygenic risk scores (PRS) on monogenic Parkinson’s disease (PD) risk and time to diagnosis and 2) APOE E4…The Moroccan LRRK2 Registry: Building Resources to Investigate the Penetrance and Phenotype of LRRK2 in North Africans
Objective: The Moroccan LRRK2 Registry aims to establish a comprehensive database integrating clinical data and biosamples to provide valuable insights into the penetrance, phenotype, and…Long-term outcomes of subthalamic Deep Brain Stimulation in LRRK2 patients
Objective: To compare the basal characteristics and postoperative clinical outcomes of LRRK2 mutation carriers and idiopathic Parkinson’s disease patients treated with subthalamic deep brain stimulation…Dysregulated Anti-Viral Response in LRRK2 Mice Following Infection with H1N1 Influenza Induces DA Neuron Loss in the SNpc.
Objective: In this study, we sought to determine if there is a synergistic effect of non-neurotropic H1N1 influenza and the G2019S LRRK2 mutation associated Parkinson’s…
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