Publicaciones en colaboración con investigadores/as de Hospital Sant Joan de Deu (33)

2023

  1. “Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain”

    Human Immunology, Vol. 84, Núm. 4, pp. 290-295

2022

  1. Docosahexaenoic Acid and Melatonin Prevent Impaired Oligodendrogenesis Induced by Intrauterine Growth Restriction (IUGR)

    Biomedicines, Vol. 10, Núm. 5

  2. Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers

    Cancer Epidemiology, Vol. 78

2021

  1. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  2. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  3. Litiasis biliar

    Tratamiento en Gastroenterología, Hepatología y Nutrición Pediátrica (Ergon), pp. 655-669

  4. Structural Brain Changes during the Neonatal Period in a Rabbit Model of Intrauterine Growth Restriction

    Developmental Neuroscience, Vol. 42, Núm. 5-6, pp. 217-229

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

  2. Post-exposure prophylaxis for HIV infection in sexual assault victims

    HIV Medicine, Vol. 21, Núm. 1, pp. 43-52

  3. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

2019

  1. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    npj Parkinson's Disease, Vol. 5, Núm. 1

  2. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    npj Parkinson's Disease, Vol. 5, Núm. 1

  3. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

  4. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

    Movement Disorders, Vol. 34, Núm. 9, pp. 1333-1344

  5. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

    Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136

2017

  1. Evolution after Anti-TNF Discontinuation in Patients with Inflammatory Bowel Disease: A Multicenter Long-Term Follow-Up Study

    American Journal of Gastroenterology, Vol. 112, Núm. 1, pp. 120-131

  2. Executive summary: Pre-exposure prophylaxis for prevention of HIV infection in adults in Spain: July 2016

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 35, Núm. 6, pp. 377-383

2016

  1. Degree of compliance with health care quality criteria in the treatment of lower airway obstruction in Spanish pediatric emergency departments, reasons for noncompliance, and recommendations for improvement

    Emergencias, Vol. 28, Núm. 3, pp. 167-172

  2. Delay in diagnosis of influenza A (H1N1)pdm09 virus infection in critically ill patients and impact on clinical outcome

    Critical Care, Vol. 20, Núm. 1

  3. Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function

    PLoS ONE, Vol. 11, Núm. 10