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

2024

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

    eBioMedicine, Vol. 102

  2. 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. 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

  3. 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

  4. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105

  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

2021

  1. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

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

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

    PLoS ONE, Vol. 11, Núm. 5

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