Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 24

    [doi:10.3233/JND-190451]

  • Dangouloff T, Burghes A, Tizzano E and Servais L.

    244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.

    NEUROMUSCULAR DISORDERS . 30(1): 93-103. Nº de citas: 56

    [doi:10.1016/j.nmd.2019.11.002]

  • Serra-Juhe C and Tizzano E.

    Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 27(12): 1774-1782. Nº de citas: 28

    [doi:10.1038/s41431-019-0415-4]

  • Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano E and Soler-Palacin P.

    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

    Molecular genetics & genomic medicine . 7(12): . Nº de citas: 7

    [doi:10.1002/mgg3.1016]

  • Tizzano E.

    Treating neonatal spinal muscular atrophy: A 21st century success story?

    EARLY HUMAN DEVELOPMENT . 138: 104851-104851. Nº de citas: 15

    [doi:10.1016/j.earlhumdev.2019.104851]

  • Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano E and Zanoteli E.

    Severe brain involvement in 5q spinal muscular atrophy type 0.

    ANNALS OF NEUROLOGY . 86(3): 458-462. Nº de citas: 39

    [doi:10.1002/ana.25549]

  • Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano E, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W and Sumner CJ.

    Neurofilament as a potential biomarker for spinal muscular atrophy.

    Annals of Clinical and Translational Neurology . 6(5): 932-944. Nº de citas: 160

    [doi:10.1002/acn3.779]

  • Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L and Tizzano E.

    Further delineation of the phenotype caused by loss of function mutations in PRMT7.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 62(3): 182-185. Nº de citas: 13

    [doi:10.1016/j.ejmg.2018.07.007]

  • Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano E, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G and Ruiz-Perez VL.

    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

    NATURE COMMUNICATIONS . 10(1): 797-797. Nº de citas: 32

    [doi:10.1038/s41467-019-08548-9]