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…Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?
Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status
Objective: The aim of this study was to characterize patients with Parkinson's disease (PD) on Levodopa/carbidopa intestinal gel infusion (LCIG) treatment based on their genetic…Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
Objective: Do clinical cognitive profiles and CSF characterisitcs of Abeta1_42, total-tau, phospho-tau and alpha-synuclein during lifetime correspond to histopathological findings post-mortem in LRKK2-associated Parkinson’s disease…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…
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