LRRK2 p.Leu119Pro and p.Leu488Pro in a family with neuropathologycally confirmed Parkinson´s disease without Lewy bodies
Objective: To describe the clinical features, genetic analysis and brain pathology of some members of a family affected by Parkinson´s disease. Background: Mutations of the…Frequency of the LRRK2 and GBA mutations in Russian population with Parkinson’s disease
Objective: To estimate the frequency of LRRK2 mutation (G2019S) and GBA mutations (N370S, L444P) and polymorphic variants (E326K, T369M) in PD and controls in the…Levels of plasma alpha-synuclein as measured using Single Molecule Array technology is higher in Parkinson’s disease compared to controls and is not influenced by LRRK2 genotype
Objective: To investigate plasma alpha-synuclein levels in PD using ultra-sensitive protein detection technology, and to determine the association of plasma alpha-synuclein with cognitive, motor and…Delivery of AAV alpha synuclein to a mouse and rat provides a useful model for the assessment of anti-parkinsonian efficacy of chronic inhibition of LRRK2
Objective: 1. To create an in vivo model system to be used to assess the effect of chronically inhibiting LRRK2 pharmacologically. 2. To confirm previous…Study on feasibility to develop a central nervous system (CNS) Leucine-rich repeat kinase 2 (LRRK2) PET tracer
Objective: To assess feasibility of developing a CNS LRRK2 PET tracer. Background: LRRK2 enzyme belongs to the leucine-rich repeat kinase family. Pathogenic mutations in the…Effect of deep brain stimulation on clinical outcome in Parkinson’s disease patients with different genetic status
Objective: The aim of this study was to evaluate the effect of the genetic status on the clinical outcome of PD patients undergoing DBS. Background:…Classifying carriers of the G2019S mutation in the LRRK2 gene using MRI radiomics analysis
Objective: To use radiomics approach based on conventional MRI to classify carriers of LRRK2 mutation among non-manifesting first degree relatives of patients with PD. Background:…Clinical phenotype analysis of Parkinson’s disease associated with LRRK2 variants in Chinese Han population
Objective: Our study aimed to compare motor and non-motor symptoms, imaging features and molecular markers of patients with Parkinson’s disease (PD) who are carriers of…Listen to the heart: Do loud vagal rhythms disharmonize the autonomic symphony in Parkinson’s disease patients with the LRRK2 mutation?
Objective: Assessment of cardiac autonomic function through standard and novel features of heart rate variability (HRV) in individuals who carry the G2019S mutation in the…Evaluation of the relationship between Leucine-rich repeat kinase 2 (LRRK2) S1647T variants and smoking with risk of Parkinson’s Disease in the Singapore population
Objective: To investigate whether cigarette smoking influences the relationship between S1647T variants and risk of PD in the Singapore population. Background: Case-control studies in southern…
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