Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Alías L, Bernal S, Calucho M, Martínez E, March F, Gallano P, Fuentes-Prior P, Abuli A, Serra-Juhe C and Tizzano E.

    Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 26(10): 1554-1557. Nº de citas: 30

    [doi:10.1038/s41431-018-0193-4]

  • Castells-Sarret N, Cueto-González AM, Borregan M, López-Grondona F, Miró R, Tizzano E and Plaja A.

    Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio.

    anales de pediatria . 89(1): 3-11. Nº de citas: 9

    [doi:10.1016/j.anpedi.2017.07.011]

  • Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, César-Díaz S, Carro-Fernandez E, Brugada-Terradellas J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O and Brugada R.

    Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 26(7): 1014-1025. Nº de citas: 28

    [doi:10.1038/s41431-018-0119-1]

  • Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T and Tizzano E.

    Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 61(5): 269-272. Nº de citas: 14

    [doi:10.1016/j.ejmg.2018.01.001]

  • Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P and Tizzano E.

    Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

    NEUROMUSCULAR DISORDERS . 28(3): 208-215. Nº de citas: 310

    [doi:10.1016/j.nmd.2018.01.003]

  • Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC and Finkel RS.

    Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

    NEW ENGLAND JOURNAL OF MEDICINE . 378(7): 625-635. Nº de citas: 959

    [doi:10.1056/NEJMoa1710504]

  • Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y and Sejersen T.

    Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

    NEUROMUSCULAR DISORDERS . 28(2): 103-115. Nº de citas: 676

    [doi:10.1016/j.nmd.2017.11.005]

  • Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W and De Vivo DC.

    Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

    NEW ENGLAND JOURNAL OF MEDICINE . 377(18): 1723-1732. Nº de citas: 1597

    [doi:10.1056/NEJMoa1702752]

  • Tizzano E and Finkel RS.

    Spinal muscular atrophy: A changing phenotype beyond the clinical trials.

    NEUROMUSCULAR DISORDERS . 27(10): 883-889. Nº de citas: 95

    [doi:10.1016/j.nmd.2017.05.011]

  • Talbot K and Tizzano E.

    The clinical landscape for SMA in a new therapeutic era.

    GENE THERAPY . 24(9): 529-533. Nº de citas: 124

    [doi:10.1038/gt.2017.52]