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Mostrando ítems 1-10 de 30
Artículo
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
(Nature Research, 2021-12-20)
Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization ...
Artículo
In vivo cholinergic basal forebrain degeneration and cognition in Parkinson's disease: Imaging results from the COPPADIS study
(Elsevier, 2021-05-31)
Introduction: We aimed to assess associations between multimodal neuroimaging measures of cholinergic basal forebrain (CBF) integrity and cognition in Parkinson’s disease (PD) without dementia. Methods: The study included ...
Artículo
Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2
(Science Direct, 2021)
Introducción Muchas enfermedades que cursan con trastornos del movimiento hipercinético comienzan o afectan a mujeres en edad fértil. Es importante conocer los riesgos que tienen las mujeres con estas enfermedades durante ...
Artículo
Genomic characterization of host factors related to SARS-CoV-2 infection in people with dementia and control populations: the GR@ACE/DEGESCO study
(MDPI, 2021)
Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study ...
Artículo
Synaptic processes and immune-related pathways implicated in Tourette syndrome
(NATURE PUBLISHING GROUP, 2021)
Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through ...
Artículo
A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial
(IOS Press, 2021-02-02)
Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson’s disease (PD). The drug utilization study SYNAPSES was designed to investigate ...
Artículo
Predictors of Loss of Functional Independence in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up and Comparison with a Control Group
(MDPI, 2021-09-29)
Background and objective: The aim of this study was to compare the progression of independence in activities of daily living (ADL) in Parkinson’s disease (PD) patients versus a control group, as well as to identify ...
Artículo
Spinocerebellar ataxia type 8: First families detected in Spain
(Elsevier Doyma, 2021)
Introducción La ARCA1/SCAR8 es una heredoataxia recesiva causada por mutaciones en el gen SYNE1, que fue descrita inicialmente en familias francocanadienses (Quebec) con un síndrome cerebeloso puro. En la actualidad se ...
Artículo
Long runs of homozygosity are associated with Alzheimer’s disease
(Nature Publishing Group, 2021)
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease ...
Artículo
Directional deep brain stimulation for Parkinson's disease: results of an international crossover study with randomized, double-blind primary endpoint
(Blackwell Publishing INC, 2021)
Objective: Published reports on directional deep brain stimulation (DBS) have been limited to small, single-center investigations. Therapeutic window (TW) is used to describe the range of stimulation amplitudes achieving ...