A5065288402- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Histone Deacetylase Inhibitors Research
- Cancer-related gene regulation
- Prion Diseases and Protein Misfolding
- RNA Interference and Gene Delivery
- Epigenetics and DNA Methylation
- Hereditary Neurological Disorders
- Endoplasmic Reticulum Stress and Disease
- Cholinesterase and Neurodegenerative Diseases
- S100 Proteins and Annexins
- Parkinson's Disease Mechanisms and Treatments
- Cerebrovascular and genetic disorders
Hospital Universitario 12 De Octubre
2022-2024
Research Institute Hospital 12 de Octubre
2017-2023
University of North Dakota
2023
University of Michigan
2023
Madrid Health Service
2022
Centro de Investigación Biomédica en Red
2017-2022
Centre for Biomedical Network Research on Rare Diseases
2017-2022
Research Network (United States)
2021
Amyotrophic Lateral Sclerosis Association
2017
Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is about their role FTD risk. Moreover, contribution to and phenotype of patients might vary populations with different genetic backgrounds. The aim this study was assess relationship intermediate ATXN2 ALS Spanish population. Repeat-primed PCR performed 620 137 three referral centers Spain determine exact number repeats. In our cohort, ≥27 repeats were associated higher developing (odds...
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological genetic continuum. Objectives The purpose the present study was to assess mutation burden that is in patients with concurrent ALS FTD (ALS/FTD) not carrying chromosome 9 open reading frame 72 ( C9orf72 ) hexanucleotide repeat expansion, most important cause both diseases. Methods From an initial group 973 ALS, we retrospectively selected those fulfilling diagnostic criteria concomitant...
<h3>Background and Objectives</h3> Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan Spanish replication cohort using polygenic scores. <h3>Methods</h3> Participant samples from University of were genotyped assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. Final size was 219 223 healthy controls after genotyping participant filtering. Polygenic scores...
Amyotrophic lateral sclerosis (ALS) is a fatal neurological condition where motor neurons (MNs) degenerate. Most of the ALS cases are sporadic (sALS), whereas 10% hereditarily transmitted (fALS), among which mutations found in gene that codes for enzyme superoxide dismutase 1 (SOD1). A central question field whether causative display selective alterations not sALS patients, or they converge on shared molecular pathways. To identify specific and common mechanisms designing appropriate...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in brain spinal cord. ALS frontotemporal dementia (FTD) are overlapping diseases with shared pathological features. Affected people FTD typically contain ubiquitin-immunoreactive inclusions, which TDP-43 (Tar DNA-binding protein 43 kDa) major component. However, what triggers formation these abnormal inclusions unclear. Previously, we identified CCNF mutations...
The goal of this work was to elucidate the pathogenic mechanism an ALS-associated missense mutation, p.Arg573Gly (R573G), in TBK1 gene. In particular, we seek analyze influence variant on cellular levels and function immortalized cells from ALS patient. patient (Code# E7) belonged a Spanish family with autosomal dominant disease manifesting sixth decade as either dementia or ALS. Four control individuals without signs neurological were also included study. Our results indicate that R375G...
Abstract Background and purpose The aim of this study was to describe the frequency distribution SOD1 mutations in Spain, explore factors contributing their phenotype prognosis. Methods Seventeen centres shared data on amyotrophic lateral sclerosis (ALS) patients carrying pathogenic or likely variants. Multivariable models were used prognostic modifiers. Results In 144 (from 88 families), 29 (26 missense, 2 deletion/insertion 1 frameshift) found all five exons , including seven novel...
Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is about their role FTD risk. Moreover, contribution to and phenotype of patients might vary populations with different genetic background. The aim this study was assess relationship intermediate ATXN2 ALS Spanish population. Repeat-Primed PCR performed 620 137 three referral centers Spain determine exact number repeats. In our cohort, ≥27 repeats associated higher developing (odds ratio [OR]...
CdSe quantum dots (QDs) are valuable tools for deciphering molecular mechanisms in cells. Their conjugation with antibodies offers a unique staining source optimal characteristics, including increased photostability and narrow emission spectra, allowing improved multiplexing capabilities using single excitation source. In combination pathology models derived from patients, they have great potential to contribute quantitative profiling promote personalized medicine. However, the commercial...
Abstract Background Most amyotrophic lateral sclerosis (ALS) patients lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan and Spanish replication cohort using polygenic scores. Methods (n=219) healthy control (n=223) participant samples from University of were genotyped assayed for the C9orf72 hexanucleotide expansion. Polygenic scores excluding C9 region generated genome-wide association (20,806 cases, 59,804 controls). Adjusted logistic...