Publicaciones en colaboración con investigadoras/es de Hospital Vall d'Hebron (28)

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. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

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

    Pulmonology

2022

  1. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

  4. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

2021

  1. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

  2. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study

    Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846

  3. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  4. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2018

  1. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

    Muscle and Nerve, Vol. 58, Núm. 6, pp. 812-817

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2015

  1. Guidelines for monitoring late-onset Pompe disease

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

  2. 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

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. Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

    Biomarkers in Medicine, Vol. 8, Núm. 5, pp. 653-661

  3. Respiratory treatments in neuromuscular disease

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

2013

  1. 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