Publicacións en colaboración con investigadores/as de Centro Nacional de Investigaciones Cardiovasculares Carlos III (69)

2024

  1. Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

    Circulation: Heart Failure

  2. Diagnosis and treatment of myocarditis and inflammatory cardiomyopathy. Consensus document of the SEC-Working Group on Myocarditis

    Revista Espanola de Cardiologia

  3. Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4

    Journal of Cardiac Failure

  4. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

  5. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  6. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

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. Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo

    JACC: Cardiovascular Imaging, Vol. 16, Núm. 12, pp. 1567-1580

  4. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

    European Heart Journal, Vol. 44, Núm. 48, pp. 5064-5073

  5. Infarct-Related Myocardial Regions with Functional Relevance During Pacing and Ventricular Tachycardia Show Similar Underlying Substrate

    Computing in Cardiology

  6. Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

    International Journal of Molecular Sciences, Vol. 24, Núm. 13

  7. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

  8. Non-invasive electromechanical assessment during atrial fibrillation identifies underlying atrial myopathy alterations with early prognostic value

    Nature communications, Vol. 14, Núm. 1, pp. 4613

  9. Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 81, Núm. 1, pp. 34-45

  10. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

  11. ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

    Revista Espanola de Cardiologia, Vol. 76, Núm. 5, pp. 301-311

  12. Safety and Efficacy of ApTOLL in Patients with Ischemic Stroke Undergoing Endovascular Treatment: A Phase 1/2 Randomized Clinical Trial

    JAMA Neurology, Vol. 80, Núm. 8, pp. 779-788

  13. Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

    Circulation

  14. Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

    Cell reports, Vol. 42, Núm. 12, pp. 113490