Increased level of a lysosomal phospholipid, BMP, in urine of LRRK2 G2019S mutation carriers with or without Parkinson’s disease: implications for therapeutic development
Objective: To study alterations in urinary phospholipids as biomarkers of LRRK2 mutations and Parkinson’s disease (PD) status. Background: LRRK2 mutations are a common cause of…Investigating the cellular role of LRRK2 in the immune system
Objective: The objective of this project is to investigate the effect of Leucine Rich-Repeat Kinase 2 (LRRK2) dysfunction in the signalling mechanisms in macrophages and…Structural connectivity changes in G2019S-LRRK2 gene mutation carriers without manifest Parkinson’s disease
Objective: We hypothesised that abnormal sprouting of serotonergic terminals in the hypothalamus may lead to abnormal structural connectivity, which can be measured with diffusion tensor…Genotype influences circuit compensation in Parkinson’s disease
Objective: This study investigates differences in brain network organization in patients with Parkinson’s disease (PD) with genetic risk factors relative to sporadic PD patients and…Genetic study of patients with Parkinson’s disease subjected to second line therapies
Objective: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be…The role of genetic modifiers in Parkinson’s disease-associated LRRK2-G2019S mutation
Objective: The aim of the study is to use genome-wide approach to elucidate genetic variability that influences LRRK2 G2019S penetrance in Parkinson's Disease (PD). Background:…BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews
Objective: Establish an Industry-Academic collaboration to identify factors contributing to disease progression in PD. Background: Ashkenazi Jews (AJ) are an excellent ethnic group in which…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…Full sequencing and haplotype analysis reveals LRRK2 protective haplotype in REM sleep behavior disorder
Objective: To examine the role of LRRK2 mutations and variants in susceptibility for RBD. Background: Rapid eye movement (REM)-sleep behavior disorder (RBD) is, in most…The Parkinson’s Families Project: A family-based study of early onset and familial Parkinson’s disease
Objective: The aim of this study is to identify new genetic variants that cause or predispose to Parkinson’s disease (PD). Our secondary aim is to…
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