Laura Vargas‐González
A5043696509- Parkinson's Disease Mechanisms and Treatments
- RNA regulation and disease
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Genetic Associations and Epidemiology
- Botulinum Toxin and Related Neurological Disorders
- Autism Spectrum Disorder Research
- Autophagy in Disease and Therapy
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Nerve injury and regeneration
- RNA Research and Splicing
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- Heme Oxygenase-1 and Carbon Monoxide
- Obsessive-Compulsive Spectrum Disorders
- Genomics and Chromatin Dynamics
- Alcoholism and Thiamine Deficiency
- Metabolism and Genetic Disorders
- Banana Cultivation and Research
- Transcranial Magnetic Stimulation Studies
- Genetic Neurodegenerative Diseases
- Peroxisome Proliferator-Activated Receptors
- Sirtuins and Resveratrol in Medicine
- Mitochondrial Function and Pathology
Instituto de Biomedicina de Sevilla
2013-2021
Universidad de Sevilla
2013-2021
Hospital Universitario Virgen del Rocío
2013-2021
Genomics England
2021
University Hospital Mútua de Terrassa
2020
Biomedical Research Networking Center on Neurodegenerative Diseases
2019
Abstract Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition α-synuclein in neurons, is often considered a neuronal disorder. However, recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes microglia. In this study, we used stratified LD score regression expression-weighted cell-type enrichment together several brain-related cell-type-specific genomic annotations connect human PD findings...
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk developing Parkinson's disease (PD). Mutations carriers have earlier onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These primarily been observed patients carrying most common pathogenic L444P N370S. However, recent findings suggest that variants across may different impact on phenotype as well progression. We aimed explore influence GBA clinical...
The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture neurodegenerative diseases.
Abstract Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding the control gene expression in human brain is vital considering this likely modus operandum for many causal variants. However, sampling complexities limit explanatory power brain-related quantitative trait loci (eQTL) allele-specific (ASE) signals. We address this, using paired genomic transcriptomic data...
There is increasing evidence that supports the role of cerebellum in pathophysiology dystonia. We used transcranial magnetic stimulation to test hypothesis patients with cervical dystonia may have a disrupted cerebellar cortical connectivity at rest, and plasticity altered too. enrolled 12 isolated 13 controls. A paired-pulse protocol was applied over right left primary motor area. Changes amplitude evoked potentials were analysed. Continuous intermittent Theta Burst Stimulation also...
Parkinson's disease (PD) patients who present with tremor and maintain a predominance of have better prognosis. Similarly, PD high levels uric acid (UA), natural neuroprotectant, also course. Our aim was to investigate whether motor subtypes differ in their UA, if these differences correlate the degree dopamine transporter (DAT) availability. We included 75 from whom we collected information about symptoms, DAT imaging UA concentration levels. Based on were classified into postural...
Abstract Background A recent genome‐wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in British population. Hence, the authors proposed dysfunction ion channel NALCN (for sodium leak channel, nonselective) as plausible cause dystonia. The objective our was to investigate five single nucleotide polymorphisms (SNPs) previously reported with high signals genetic risk factors for GWAS, including two...
Abstract Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, frequently accompanied the comorbidities attention deficit hyperactivity obsessive‐compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate association of 28 candidate genes, including genes related neurotrophic factors, with syndrome. Methods We genotyped 506 polymorphisms discovery cohort from United States composed 112...
Introduction Uric acid is a natural antioxidant, and it has been shown that low levels of uric could be risk factor for the development PD. Our aim was to investigate whether plays role in PSP. Methods We carried out cross-sectional study compare serum between PSP patients, PD healthy controls. also analyzed longitudinal group. Results patients showed reduced as compared This reduction similar found with did not change time. Conclusion Serum are well data suggest high protective against ©...
TMEM230 has been associated with autosomal dominant Parkinson’s disease (PD). Subsequent studies have remained negative, and none of previous described mutation reported anymore. We investigated the implication this gene in PD a population 703 patients 695 unrelated healthy controls from southern Spain. Thirteen variants were found, twelve them observed only or controls, one (c.190A>G) patient. analysis variant indicates that probably it is not pathogenic. In addition, we found variation...
ABSTRACT Background The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture neurodegenerative diseases. Objectives To perform largest Parkinson disease (PD) genome-wide association study (GWAS) restricted to a single country. Methods We performed GWAS both risk PD age-at-onset (AAO) in 7,849 Spanish individuals. Further analyses included population-specific haplotype...