The Global Parkinson’s Genetics Program (GP2) – a year’s progress
Objective: The Global Parkinson’s Genetics Program (GP2, http://gp2.org/) aims to dramatically expand the current understanding of the genetic architecture of Parkinson’s disease (PD) and to…Methylation status of SNCA gene in multiple system atrophy and Parkinson’s disease
Objective: Parkinson’s disease (PD) and multiple system atrophy (MSA) are classical synucleinopathies caused by misfolding of alpha-synuclein protein. Clinical picture of PD and MSA in…Investigating LRRK2 and GBA genetic variability in underrepresented populations
Objective: To address the pressing need through promoting collaborative translational work evaluating genetic signatures in Latinx and African-American (AA) participants with and without Parkinson’s disease…Genotype-phenotype relations for GBA as a Parkinson’s disease risk factor gene: MDSGene Systematic Review
Objective: To provide a comprehensive and systematic review of genotype-phenotype associations of GBA variants for Parkinson’s disease (PD). Background: Biallelic pathogenic variants in the glucocerebrosidase gene (GBA) cause Gaucher disease (GD).…Rapamycin attenuates nigral and hippocampal alpha-synuclein accumulation in AAV-mediated alpha-synuclein overexpression model of Parkinson’s disease
Objective: To examine the possible neurorestorative effects of chronic rapamycin treatment in AAV-mediated alpha-synuclein (a-syn) overexpression model of Parkinson’s disease (PD), designed to induce hippocampal…VPS35 D620N knockin mice recapitulate cardinal features of Parkinson’s disease
Objective: To establish the pathogenic effects of the PD-causing VPS35 D620N mutation in vivo and address possible underlying mechanisms. Background: D620N mutation in the vacuolar…EVALUATION OF THE ABSENCE OF NIGROSOME 1 BY MAGNETIC RESONANCE 3 TESLA IN PARKINSON’S DISEASE ACCORDING TO TIME OF EVOLUTION TO DIAGNOSIS VS MESENCEPHALIC ECOGRAPHY.
Objective: The primary objective was to evaluate the absence of nigrosome 1 in 3TMRI in a group of patients with PD according to their evolutionary…EVOLUTION OF PARKINSON’S DISEASE IN PATIENTS WITH ESSENTIAL TREMOR: CLINICAL AND NEUROIMAGING ASPECTS
Objective: Analyze the result of the SPECT-TRODAT image exam in patients with ET and to evaluate the predictive value of a possible evolution to the…Association of presynaptic dopaminergic denervation with therapeutic effects of globus pallidus deep brain stimulation on freezing of gait in advanced Parkinson’s disease
Objective: To investigate the association of presynaptic dopaminergic denervation with the therapeutic effect of globus pallidus (GPi) DBS in advanced PD patients with FOG. Background:…Reduced cerebral energy metabolism in Parkinson’s disease in contrast to Progressive Supranuclear Palsy
Objective: To determine the significance of 31P-MRSI to differentiate between idiopathic Parkinson’s disease (PD), Progressive supranuclear palsy (PSP), and healthy control subjects. Background: Bioenergetic disturbances,…
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