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Artículo
Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson’s disease patients
(SPRINGER, 2022)
Parkinson’s disease (PD) is the neurological disorder showing the greatest rise in prevalence from 1990 to 2016. Despite clinical definition criteria and a tremendous effort to develop objective biomarkers, precise diagnosis ...
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
Homocysteine levels, genetic background, and cognitive impairment in Parkinson’s disease
(Springer Nature, 2023)
Background: Hyperhomocysteinemia is considered an independent risk factor for cognitive impairment. Objective: To study the correlation between homocysteine levels and cognitive impairment in patients with PD. Methods: ...
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
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
(Nature publishing group, 2020-02-25)
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved under- standing of the genetic control of gene expression ...
Artículo
Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients
(Nature Publishing Group, 2022)
Advanced age represents one of the major risk factors for Parkinson’s Disease. Recent biomedical studies posit a role for microRNAs, also known to be remodelled during ageing. However, the relationship between microRNA ...
Artículo
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
(NATURE PUBLISHING GROUP, 2021)
ARTICLE Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk ...
Artículo
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients
(Nature Research, 2021-09-07)
A prodromal phase of Parkinson’s disease (PD) may precede motor manifestations by decades. PD patients’ siblings are at higher risk for PD, but the prevalence and distribution of prodromal symptoms are unknown. The study ...
Artículo
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
(Nature Research, 2021-04-06)
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions ...
Artículo
Increased Stroke Risk in Patients with Parkinson’s Disease with LRRK2 Mutations
(WILEY, 2022)
Parkinson’s disease (PD) is associated with an increasedstroke risk, however, no relationship between coronary arterydisease (CAD) and PD was found.1To date, little is knownabout the influence of PD-related genes, such as ...