Publications by the researcher in collaboration with Luis Tercedor (7)

2023

  1. 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

2019

  1. Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family

    Revista Espanola de Cardiologia, Vol. 72, Núm. 4, pp. 324-332

  2. Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants

    Revista Espanola de Cardiologia

2018

  1. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

    Circulation, Vol. 137, Núm. 15, pp. 1595-1610

2016

  1. Calmodulin 2 mutation N98S is associated with unexplained cardiac arrest in infants due to low clinical penetrance electrical disorders

    PLoS ONE, Vol. 11, Núm. 4

  2. Penetrancia familiar en la parada cardíaca en ausencia de cardiopatía aparente: Observaciones del estudio FIVI-Gen

    Cardiocore, Vol. 51, Núm. 1, pp. 30-36

2015

  1. Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

    American Journal of Cardiology, Vol. 116, Núm. 6, pp. 894-899