High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…Functional characterisation and the selective vulnerability of SNCA (A30P) patient-derived midbrain dopaminergic neurons to ER stress
Objective: To functional characterise and phenotype the genetic Parkinson's disease (PD) patient with an A30P point mutation in SNCA using midbrain dopaminergic neurons (mDANs) vs…Pre-formed fibrils injection worsen pathology caused by AAV-mediated over expression of α-synuclein
Objective: The overall goal is to produce a rat model of Parkinson's disease (PD), which reproduces progressive pathological changes, while displaying profound neuronal cell loss…SOD1 aggregation: A pathological link between Parkinson’s disease and amyotrophic lateral sclerosis?
Objective: To characterize (1) a novel association between superoxide dismutase 1 (SOD1) aggregation and neuronal loss in the Parkinson's disease (PD) brain and (2) the…Identifying freezing of gait and falls in Parkinson’s disease patients using a body-worn sensor
Objective: The aim of the present study is to objectively detect and quantify freezing of gait (FOG) and falls in Parkinson's disease (PD) patients during…Cellular senescence induced by paraquat drives neuropathology associated with Parkinson’s disease
Objective: To understand the role of cellular senescence in brain aging and neurodegeneration in Parkinson's disease models. Background: Although cellular senescence has been causally linked…Difference of REM sleep behavior disorder between the onset of before and after Parkinson’s disease
Objective: It is not clear that the onset of RBD (REM sleep behavior disorder) affect clinical characteristics of PD. A cross section study comparing clinical…Diffusion tensor imaging (DTI) within the primate caudate nucleus marks dopaminergic (DA) and serotonergic (5-HT) lesions
Objective: To determine the best diffusion tensor imaging markers of dopaminergic and serotonergic lesions in the non-human primate. Background: DTI has received particular interest to…Apathy phenotype in Parkinson’s disease: Motor and non-motor features
Objective: To evaluate whether apathy is associated with specific motor and non-motor features in patients with Parkinson's disease. Background: In a previous clinical cohort study…
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