Publicaciones en colaboración con investigadores/as de Universidade da Coruña (15)

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. Mortality among Referral Patients with Hypertrophic Cardiomyopathy vs the General European Population

    JAMA Cardiology, Vol. 5, Núm. 1, pp. 73-80

2019

  1. Effectiveness of the 2014 european society of cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: A systematic review and meta-analysis

    Heart, Vol. 105, Núm. 8, pp. 623-631

2018

  1. 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. Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation

    International Journal of Cardiology, Vol. 248, pp. 232-238

2016

  1. Inverted U-Shaped Relation between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy

    Circulation: Arrhythmia and Electrophysiology, Vol. 9, Núm. 6

  2. Protocolo de actuación en las cardiopatías familiares: síntesis de recomendaciones y algoritmos de actuación

    Revista Espanola de Cardiologia, Vol. 69, Núm. 3, pp. 300-309

  3. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

    Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451

2015

  1. A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy

    Clinical Genetics, Vol. 88, Núm. 2, pp. 172-176

  2. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2014

  1. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: Characterizing a phenotype

    Europace, Vol. 16, Núm. 12, pp. 1838-1846

2013

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

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

  2. Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy

    Circulation Journal, Vol. 77, Núm. 9, pp. 2358-2365

2009

  1. Miocardiopatía hipertrófica. Estudio del gen de la troponina T en 127 familias españolas

    Revista Espanola de Cardiologia, Vol. 62, Núm. 12, pp. 1473-1477