Publicacións en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (42)

2024

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

    American Journal of Kidney Diseases

2022

  1. Efficacy, safety and cost-effectiveness of methotrexate, adalimumab or their combination in non-infectious non-anterior uveitis: a protocol for a multicentre, randomised, parallel three arms, active-controlled, phase III open label with blinded outcome assessment study

    BMJ open, Vol. 12, Núm. 3, pp. e051378

  2. Specialized Proresolving Mediators Protect Against Experimental Autoimmune Myocarditis by Modulating Ca2+ Handling and NRF2 Activation

    JACC: Basic to Translational Science, Vol. 7, Núm. 6, pp. 544-560

2021

  1. Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure

    JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901

  2. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  3. Clinical utility of genetic testing in patients with dilated cardiomyopathy

    Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495

  4. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

    Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224

2020

  1. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    Journal of the American College of Cardiology, Vol. 76, Núm. 2, pp. 186-197

  2. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

    Circulation: Heart Failure, Vol. 13, Núm. 10, pp. E006832

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

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

  4. Prognostic implications of pathogenic truncating variants in the TTN gene

    International Journal of Cardiology, Vol. 316, pp. 180-183

  5. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

    European Journal of Medical Genetics, Vol. 63, Núm. 12

2018

  1. Approach to familial heart diseases from Genomic Medicine

    Revista Colombiana de Cardiologia

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

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

  3. 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. Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-Analysis and functional study

    Annals of the Rheumatic Diseases, Vol. 76, Núm. 6, pp. 1114-1122

  2. Quorum sensing network in clinical strains of A. baumannii: AidA is a new quorum quenching enzyme

    PLoS ONE, Vol. 12, Núm. 3

  3. Response to bile salts in clinical strains of Acinetobacter baumannii lacking the adeABC efflux pump: Virulence associated with quorum sensing

    Frontiers in Cellular and Infection Microbiology, Vol. 7, Núm. MAY

  4. Role of NOD1 in Heart Failure Progression via Regulation of Ca2+ Handling

    Journal of the American College of Cardiology, Vol. 69, Núm. 4, pp. 423-433

2016

  1. Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation

    Journal of Heart and Lung Transplantation, Vol. 35, Núm. 5, pp. 625-635