Publicacións en colaboración con investigadores/as de Universidade da Coruña (38)

2024

  1. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies

    Genes, Vol. 15, Núm. 6

  2. Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response

    Revista Espanola de Cardiologia

  3. Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

    Revista Espanola de Cardiologia, Vol. 77, Núm. 4, pp. 347-349

2023

  1. Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report

    European Heart Journal - Case Reports, Vol. 7, Núm. 11

  2. Impact of SARS-CoV-2 infection in patients with cardiac amyloidosis: Results of a multicentre registry

    Medicina Clinica, Vol. 161, Núm. 11, pp. 476-482

  3. 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

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

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

2022

  1. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 49-61

  2. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

    Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250

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. Author's reply: Prognostic implication of exercise echocardiography in patients with hypertrophic cardiomyopathy, by Teruhiko Imamura

    Journal of Cardiology

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

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

  4. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

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

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

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

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

  7. Selection of the best of 2020 in familial heart disease and cardiovascular genetics

    REC: CardioClinics, Vol. 56, pp. 9-14

  8. Value of a comprehensive exercise echocardiography assessment for patients with hypertrophic cardiomyopathy: Exercise Echo for HCM

    Journal of Cardiology, Vol. 77, Núm. 5, pp. 525-531

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. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

    The Lancet, Vol. 396, Núm. 10253, pp. 759-769

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

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