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Malalties cardiovasculars en el desenvolupament

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  • Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, César-Díaz S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro-Aguirre M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada-Terradellas J, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P and European Genetic Cardiomyopathies Initiative Investigators.

    Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 76(2): 186-197. Nº de cites: 44

    [doi:10.1016/j.jacc.2020.05.029]

  • Walter CC, Bartrons J, Gómez O, Caffarena-Calvar JM and Carretero JM.

    Idiopathic dilatation of the right atrium: a not so benign entity

    CARDIOLOGY IN THE YOUNG . 30(7): 919-922. Nº de cites: 5

    [doi:10.1017/S1047951120001353]

  • Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, César-Díaz S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol JV, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada-Terradellas J, Brugada R and Campuzano O.

    Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

    FORENSIC SCIENCE INTERNATIONAL-GENETICS . 47: 102281-102281. Nº de cites: 27

    [doi:10.1016/j.fsigen.2020.102281]

  • Salazar-Mendiguchía J, Díez-López C, Claver E, César-Díaz S, Campuzano O, Sarquella-Brugada G and Monserrat L.

    Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy

    Gene . 746: 144658-144658. Nº de cites: 2

    [doi:10.1016/j.gene.2020.144658]

  • Brugada-Terradellas J, Katritsis, DG, Arbelo, E, Arribas, F, Bax, JJ, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, SG, Diller, GP, Gomez-Doblas, JJ, Gorenek, B, Grace, A, Ho, SY, Kaski, JC, Karl-Heinz, K, Lambiase, PD, Sacher, F, Sarquella-Brugada G, Suwalski, P and Zaza, A.

    2019 ESC Guidelines on the Treatment of Patients With Supraventricular Tachycardia

    REVISTA ESPANOLA DE CARDIOLOGIA . 73(6): .

    [doi:10.1016/j.recesp.2019.12.029]

  • Campuzano O, Sarquella-Brugada G, Arbelo E, César-Díaz S, Jordà P, Pérez-Serra A, Toro R, Brugada-Terradellas J and Brugada R.

    Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

    Journal of Clinical Medicine . 9(6): . Nº de cites: 5

    [doi:10.3390/jcm9061866]

  • Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Sredniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V and Priori SG.

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

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 75(15): 1772-1784. Nº de cites: 36

    [doi:10.1016/j.jacc.2020.02.033]

  • Campuzano O, Sarquella-Brugada G, Fernandez-Falgueras A, Coll M, Iglesias A, Ferrer-Costa C, César-Díaz S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Tiron de Llano C, Grassi S, Oliva A, Brugada J and Brugada R.

    Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

    EBioMedicine . 54: 102732-102732. Nº de cites: 49

    [doi:10.1016/j.ebiom.2020.102732]

  • Walter CC, Soveral I, Bartrons J, Escobar MC, Carretero JM, Quirado L, Gómez O and Sanchez deToledo J.

    Comprehensive Functional Echocardiographic Assessment of Transposition of the Great Arteries: From Fetus to Newborn

    PEDIATRIC CARDIOLOGY . 41(4): 687-694. Nº de cites: 8

    [doi:10.1007/s00246-019-02279-w]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de cites: 40

    [doi:10.1002/jimd.12156]