A5029520466- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neonatal Respiratory Health Research
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Autism Spectrum Disorder Research
- Neonatal Health and Biochemistry
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- RNA regulation and disease
- Congenital Heart Disease Studies
- Toxin Mechanisms and Immunotoxins
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Prion Diseases and Protein Misfolding
- Axon Guidance and Neuronal Signaling
- CRISPR and Genetic Engineering
- Telomeres, Telomerase, and Senescence
- Algal biology and biofuel production
- Drug Transport and Resistance Mechanisms
- Mental Health Treatment and Access
- Virus-based gene therapy research
- Cell death mechanisms and regulation
- Congenital Diaphragmatic Hernia Studies
Instituto Nacional de Neurología y Neurocirugía
2014-2025
University Hospital Mútua de Terrassa
2024
Mútua Terrassa
2024
Mexican Social Security Institute
2014-2024
Hospital de Sant Pau
2024
Universitat Autònoma de Barcelona
2024
Universidad Nacional Autónoma de México
2020-2022
Hospital Psiquiatrico Infantil Juan N Navarro
2016-2020
Secretaria de Salud
2020
Centro Medico Nacional Siglo XXI
2013-2014
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
Spinocerebellar ataxia type 10 (SCA10) is a rare, inherited neurological disorder caused by an expansion of the non-coding ATTCT pentanucleotide repeat in ATAXIN gene. It characterized cerebellar and epilepsy. Previous research has demonstrated extensive white gray matter degeneration, particularly cerebellum. However, impact SCA10 mutation on functional connectivity (FC) remains unexplored. This study aimed to characterize intrinsic FC changes patients their relationship clinical...
Parkinson's disease (PD) pathophysiology includes mitochondrial dysfunction, neuroinflammation, and aging as its biggest risk factors. Mitochondrial DNA copy number (mtDNA-CN) telomere length (TL) are biological markers with inconclusive results regarding their association PD. A case-control study was used to measure TL mtDNA-CN using qPCR in PBMCs. PD patients were naive at baseline (T0) followed-up one (T1) two (T2) years after the dopaminergic treatment (DRT). Plasmatic cytokines...
This study aims to generate evidence on intellectual development disorders (IDD) in Mexico.IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses families member an IDD evaluated. Genomic characterization include: sequencing participant exomes performing bioinformatics analyses identify de novo or inherited variants through trio analysis; identifying genetic associated IDD, validating randomly...
Introduction: There are reports of different clinical statuses in carriers intermediate alleles (IAs) CAG trinucleotide repeats the HTT gene, from individuals affected by a picture indistinguishable Huntington’s disease (HD) to those without manifestations. Therefore, possible significance these has been widely debated. Objectives: The aim this study was describe general and features discard HD phenocopies molecular assessment case series IA on gene laboratory sample neurological center...
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, clinical and molecular studies of a female subject with CFNS described. A novel de novo c.473T>C (p.M158T) mutation exon 3 was demonstrated patient. The M158 residue Ephrin-B1 protein highly conserved between species. Our results expand mutational spectrum exposed CNFS.
Gastric cancer remains a significant global health challenge with varied survival rates, emphasizing the need for research into effective surgical treatments. In this retrospective study, we compared 72-month overall and disease-free between laparoscopic gastrectomy (LG) laparoscopic-assisted (AG) in cohort of 139 patients treated gastric cancer. The analysis revealed that undergoing LG exhibited significantly higher rate at 72 months to those AG. Although rates were comparable two groups,...
Spinocerebellar ataxia autosomal recessive (SCAR) represents a heterogeneous chronic and progressive neurological diseases group. They usually occur at an early age in manner. Diagnosis is complex due to phenotypic overlap. SCARs account for more than 50% of all cases genetic origin, with prevalence 3–4/100 000. According international published series, Friedreich's (FA) the most common. In Mexico, 90% patients suspected SCAR remain without etiologic diagnosis after ruling out FA acquired...