Publicaciones en colaboración con investigadores/as de Hospital General Universitario Gregorio Marañón (24)

2024

  1. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

2023

  1. 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

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

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

2022

  1. Characterization of hereditary transthyretin cardiac amyloidosis in Spain

    Revista Espanola de Cardiologia, Vol. 75, Núm. 6, pp. 488-495

  2. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 79, Núm. 20, pp. 1986-1997

  3. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  4. Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy

    European Journal of Heart Failure, Vol. 24, Núm. 7, pp. 1183-1196

  5. 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

  6. Natural History of MYH7-Related Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461

  7. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

    Circulation. Arrhythmia and electrophysiology, Vol. 15, Núm. 5, pp. e010075

  8. The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

    European Journal of Preventive Cardiology, Vol. 29, Núm. 4, pp. 645-653

2021

  1. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699

  2. 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

  3. Prospective follow-up in various subtypes of cardiomyopathies: Insights from the ESC EORP Cardiomyopathy Registry

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 7, Núm. 2, pp. 134-142

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

2019

  1. Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

    JAMA Cardiology, Vol. 4, Núm. 9, pp. 918-927

  2. Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

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

2013

  1. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

    Nature Medicine, Vol. 19, Núm. 2, pp. 193-201

2011

  1. Un caso de síndrome de Noonan con enfermedad celíaca debido a mutación en SOS1

    Medicina Clinica