Publicacións en colaboración con investigadores/as de Centro Nacional de Investigaciones Cardiovasculares Carlos III (27)

2024

  1. p63 controls metabolic activation of hepatic stellate cells and fibrosis via an HER2-ACC1 pathway

    Cell Reports Medicine, Vol. 5, Núm. 2

2023

  1. A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

    Circulation, Vol. 147, Núm. 1, pp. 47-65

  2. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

  3. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34

  2. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

    Heart Rhythm, Vol. 19, Núm. 7, pp. e1-e60

  3. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 24, Núm. 8, pp. 1307-1367

  4. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

    Journal of Arrhythmia, Vol. 38, Núm. 4, pp. 491-553

  5. Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function

    Journal of Hepatology, Vol. 76, Núm. 1, pp. 11-24

  6. Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia Treated with β-Blockers

    JAMA Cardiology, Vol. 7, Núm. 5, pp. 504-512

  7. 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

  8. Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

    Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203

  9. mtDNA variability determines spontaneous joint aging damage in a conplastic mouse model

    Aging, Vol. 14, Núm. 15, pp. 5966-5983

2021

  1. Mitochondrial DNA impact on joint damaged process in a conplastic mouse model after being surgically induced with osteoarthritis

    Scientific reports, Vol. 11, Núm. 1, pp. 9112

  2. Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy

    ACS Nano, Vol. 15, Núm. 6, pp. 10203-10216

  3. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

    Journal of Biological Chemistry, Vol. 297, Núm. 1

  4. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

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. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

    Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784

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