Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Aranda-Reneo I, Peña-Longobardo LM, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E and López-Bastida J.

    The Burden of Spinal Muscular Atrophy on Informal Caregivers.

    INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH . 17(23): . Nº de citas: 18

    [doi:10.3390/ijerph17238989]

  • Tiziano FD and Tizzano E.

    25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 39(4): 336-344.

    [doi:10.36185/2532-1900-037]

  • Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P and Tizzano E.

    Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

    NEUROLOGY-GENETICS . 6(6): . Nº de citas: 42

    [doi:10.1212/NXG.0000000000000530]

  • Valenzuela I, Codina M, Fernández-Álvarez P, Mur P, Valle L, Tizzano E and Cuscó I.

    Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(11): 2742-2745. Nº de citas: 6

    [doi:10.1002/ajmg.a.61839]

  • Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano E, Ziegler A, Servais L and Muntoni F.

    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 28: 38-43. Nº de citas: 78

    [doi:10.1016/j.ejpn.2020.07.001]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 16

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Peña-Longobardo LM, Aranda-Reneo I, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E and López-Bastida J.

    The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.

    INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH . 17(16): . Nº de citas: 25

    [doi:10.3390/ijerph17165640]

  • López-Fernández A, Serra-Juhé C, Balmaña J and Tizzano E.

    Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

    MEDICINA CLINICA . 155(2): 77-81. Nº de citas: 3

    [doi:10.1016/j.medcli.2020.01.001]

  • Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E and Tizzano E.

    Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

    Human Genome Variation . 7: 20-20. Nº de citas: 2

    [doi:10.1038/s41439-020-0105-3]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Nº de citas: 19

    [doi:10.1111/cge.13718]