Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Paz (23)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

  2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  4. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2020

  1. Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 31, Núm. 2, pp. 124-132

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Guidelines for monitoring late-onset Pompe disease

    Revista de Neurologia, Vol. 60, Núm. 7, pp. 321-328

  2. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

  3. Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life

    Pediatric Allergy and Immunology, Vol. 26, Núm. 8, pp. 797-804

  4. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Neuromuscular Disorders, Vol. 25, Núm. 7, pp. 548-553

2014

  1. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

  2. Respiratory treatments in neuromuscular disease

    Anales de Pediatria, Vol. 81, Núm. 4, pp. 259.e1-259.e9

2013

  1. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation, Vol. 34, Núm. 1, pp. 79-82

  2. Chromosome 16 consortium: Current developments on the characterization of the proteins encoded by the chromosome 16”

    Proteómica: revista de la Sociedad Española de Proteómica, Núm. 9, pp. 112-112

  3. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262