Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (14)

2024

  1. A multiomic atlas of the aging hippocampus reveals molecular changes in response to environmental enrichment

    Nature Communications, Vol. 15, Núm. 1

  2. A personalized medicine approach identifies enasidenib as an efficient treatment for IDH2 mutant chondrosarcoma

    eBioMedicine, Vol. 102

  3. Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin-Binding Protein C)

    Journal of the American Heart Association, Vol. 13, Núm. 21, pp. e035777

  4. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Frequency and Referral Patterns of Neural Antibody Studies During the COVID-19 Pandemic

    Neurology: Neuroimmunology and NeuroInflammation, Vol. 10, Núm. 4

  3. In-stent restenosis is associated with proliferative skin healing and specific immune and endothelial cell profiles: results from the RACHEL trial

    Frontiers in Immunology, Vol. 14

  4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  5. miR-24-3p and Body Mass Index as Type 2 Diabetes Risk Factors in Spanish Women 15 Years after Gestational Diabetes Mellitus Diagnosis

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2010

  1. Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis

    Endocrine-Related Cancer, Vol. 17, Núm. 1, pp. 7-16

2009

  1. The second wind phenomenon in very young McArdle's patients

    Neuromuscular Disorders, Vol. 19, Núm. 6, pp. 403-405

2008

  1. The / allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

    British Journal of Sports Medicine, Vol. 42, Núm. 2, pp. 134-140