Mutational analysis of GNAL gene in isolated dystonia patients from Spain
Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…Roles of combined functional catechol-o-methyltransferase genotypes in Chinese Parkinson’s disease: A cross-sectional survey
Objective: To investigate the association of the most common functional catechol-O-methyltransferase (COMT) gene haplotypes with risk to develop of Parkinson's disease (PD) and the association…The role of non-steroidal anti-inflammatory use in symptomatic and asymptomatic LRRK2 G2019S mutation carriers
Objective: The purpose of the current study is to determine if non-steroidal anti-inflammatory drugs (NSAIDs) reduce the risk of Parkinson's disease (PD) among LRRK2 G2019S…Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease
Objective: To evaluate alterations in the phosphorylated, oligomeric alpha-synuclein and GBA activity levels in plasma from patients with sporadic Parkinson's disease (sPD), PD patients with…Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation
Objective: To determine interest in genetic testing in Parkinson's disease (PD) patients with deep brain stimulation (DBS). Background: Approximately 27% of early-onset PD patients with…Clinical profile of Wilson’s disease at Yangon General Hospital, Myanmar
Objective: To evaluate clinical, biochemical and imaging profile of patients with Wilson's Disease (WD). Background: There was no reported case series of WD in Myanmar.This…Clinical and neuroimaging outcomes up to 18 years after fetal tissue transplant for Parkinson’s disease
Objective: To characterize clinical and radiological outcomes in 4 patients with Parkinson's disease (PD) at 16-18 years post-transplant of fetal ventral mesencephalic (fVM) tissue into…PINK1-dependent clearance of depolarized mitochondria is driven by the UPS and can occur independently of (macro)autophagy
Objective: To disect the role of macroautophagy in PINK1-/Parkin-dependent removal of depolarized mitochondria. Background: The ubiquitin ligase Parkin and mitochondrial kinase PINK1 function together in…Analysis of relationships between spinal deformity and walking ability in Parkinson’s disease patients
Objective: To determine the impact on walking ability of spinal deformity and imbalance as distinct from movement disorder in Parkinson's disease (PD). Background: Despite a…Selenotranscriptomic analyses identify signature selenoproteins in brain regions in a mouse model of Parkinson’s disease
Objective: In this study, we investigated the selenotranscriptome (24 selenoproteins in total) in five brain regions (cerebellum, substantia nigra, cortex, pons and hippocampus) in a…
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