Molecular Genetics and Functional Studies of LRRK2 Gene Variations in Parkinson’s Disease
Objective: To evaluate the function role of ROC domain in the brains of LRRK2 transgenic mice model and normal control mice. Background: Mutations in leucine-rich…PD associated with GBA and LRRK2 mutations: Genotype-phenotype correlation
Objective: To study differences in disease characteristics in PD associated with 1 or 2 mutations in the most common PD-associated genes in the Ashkenazi Jewish…Activation of chaperone-mediated autophagy reduces oligomeric alpha-synuclein accumulation in LRRK2(R1441G) knockin mouse model of Parkinson’s disease (PD)
Objective: To determine age-dependent accumulation of oligomeric alpha-synuclein in the brain of aged LRRK2(R1441G) knockin mice; and to explore whether activation of chaperone-mediated autophagy (CMA)…Application of the Movement Disorder Society Prodromal Criteria in healthy G2019S-LRRK2 carriers
Objective: To evaluate the MDS prodromal criteria in first-degree relatives of Ashkenazi Jewish G2019S-LRRK2 PD patients, who are considered a population at risk for developing…Survival of patients with Parkinson’s disease is influenced by the mutations in the LRRK2 but not GBA gene
Objective: To assess the impact of common genetic mutations on Parkinson's disease survival. Background: The prognosis of Parkinson's disease (PD) is heterogeneous with many factors…Resting state networks abnormalities among healthy LRRK2 mutation carriers
Objective: To assess the integrity of resting state networks in non-manifesting carriers of the G2019S mutation in the LRRK2 gene. Background: Non-manifesting first degree relatives…A review of modifiers of Parkinsonism in the Leucine-rich repeat kinase 2 (LRRK2) population
Objective: To review and examine the most current identified modifiers of Parkinsonism in the LRRK2 population. Background: LRRK2 is a protein with multiple domains and…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…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…
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