Publicacións en colaboración con investigadores/as de Hospital San Pedro de Alcántara (6)

2024

  1. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

    American Journal of Kidney Diseases

2022

  1. Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry

    ESC Heart Failure, Vol. 9, Núm. 4, pp. 2189-2198

2020

  1. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

    Heart, Vol. 106, Núm. 17, pp. 1342-1348

2018

  1. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

  2. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

2017

  1. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1