People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • 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): . Number of citations: 39

    [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. Number of citations: 5

    [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. Number of citations: 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. Number of citations: 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): . Number of citations: 24

    [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. Number of citations: 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. Number of citations: 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. Number of citations: 18

    [doi:10.1111/cge.13718]

  • Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano E, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G and Tartaglia M.

    Skeletal abnormalities are common features in Aymé-Gripp syndrome.

    CLINICAL GENETICS . 97(2): 362-369. Number of citations: 14

    [doi:10.1111/cge.13651]

  • Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, Anderson FA and Servais L.

    RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.

    Journal of neuromuscular diseases . 7(2): 145-152. Number of citations: 22

    [doi:10.3233/JND-190451]