Publicaciones en colaboración con investigadores/as de Pitié-Salpêtrière Hospital (9)

2024

  1. Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report

    International Journal of Cardiology, Vol. 395

2023

  1. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 9, Núm. 1, pp. 42-53

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

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

2019

  1. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

  2. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: Baseline data and contemporary management of adult patients with cardiomyopathies

    European Heart Journal, Vol. 39, Núm. 20, pp. 1784-1793

2016

  1. European cardiomyopathy pilot registry: EURObservational research programme of the European society of cardiology

    European Heart Journal, Vol. 37, Núm. 2, pp. 164-173

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082