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…Phase 1 and 1b Pharmacodynamic Data Support Central Modulation of Lysosomal Pathways With BIIB122/DNL151, a LRRK2 Kinase Inhibitor: Insights for the LUMA Trial
Objective: Evaluate the effects of BIIB122/DNL151 treatment on CSF levels of pRab10, a biomarker of CNS LRRK2 modulation, in a Phase 1 study in healthy…Impact of Constipation on Motor and Non-Motor Symptoms in G2019s Lrrk2 Parkinson’s Disease A Retrospective Study
Objective: This study aimed to investigate the association between constipation and the severity of motor and non-motor symptoms in PD patients with the G2019S LRRK2…Incidence and Associated Factors for Phenoconversion of Parkinson’s Disease in the Chinese Community Older Adults with LRRK2 G2385R and R1628P Variants
Objective: To investigate the 10-year accumulated incidence and associated factors for phenoconversion of Parkinson’s disease (PD) in community older adults carrying LRRK2 G2385R or/and R1628P variants. Background: Previous…
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