Publicacións en colaboración con investigadores/as de Universidade da Coruña (16)

2024

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

    Revista Espanola de Cardiologia

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

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

2022

  1. 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. 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

  3. Mitral valve prolapse morphofunctional features by cardiovascular magnetic resonance: more than just a valvular disease

    Journal of Cardiovascular Magnetic Resonance, Vol. 23, Núm. 1

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

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

  5. 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. Diagnostic and prognostic value of cardiac imaging in amyloidosis

    World Journal of Cardiology, Vol. 12, Núm. 12, pp. 599-614

  3. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

    European Journal of Medical Genetics, Vol. 63, Núm. 12

2019

  1. Classification of Pulmonary Arterial Hypertension by Genetic and Familial Testing

    Revista Espanola de Cardiologia, Vol. 72, Núm. 7, pp. 591-593

2018

  1. Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation"

    Circulation. Genomic and precision medicine