Publicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (18)

2024

  1. Adaptation and validation of an abbreviated version of the SIPAT integrated psychosocial risk scale in patients with liver cirrhosis candidates for liver transplantation (SIPAT-11)

    Gastroenterologia y Hepatologia

2023

  1. Inadequate social support decreases survival in decompensated liver cirrhosis patients

    Gastroenterologia y Hepatologia, Vol. 46, Núm. 1, pp. 28-38

2022

  1. 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

2021

  1. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  2. Incidence, diagnosis, and outcome of immune-mediated thrombotic thrombocytopenic purpura: A nationwide survey by the Spanish registry of thrombotic thrombocytopenic purpura

    Journal of Clinical Apheresis, Vol. 36, Núm. 4, pp. 563-573

2020

  1. Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 6, pp. E003117

  2. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

    Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

  2. 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. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

2016

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

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

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

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

  2. Manejo de la sedación y la analgesia en unidades de cuidados intensivos neonatales españolas

    Anales de Pediatria, Vol. 83, Núm. 2, pp. 75-84

2014

  1. The Lin28/Let-7 system in early human embryonic tissue and ectopic pregnancy

    PLoS ONE, Vol. 9, Núm. 1

2013

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

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

2007

  1. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")

    Journal of Molecular Neuroscience, Vol. 33, Núm. 2, pp. 151-154

2004

  1. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

    Neurology, Vol. 63, Núm. 11, pp. 2165-2167