People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • 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. Number of citations: 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. Number of citations: 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): . Number of citations: 7

    [doi:10.1002/mgg3.1016]

  • Tizzano E.

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

    EARLY HUMAN DEVELOPMENT . 138: 104851-104851. Number of citations: 14

    [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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 32

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

  • Pinto MM, Monges S, Malfatti E, Lubieniecki F, Lornage X, Alias L, Labasse C, Madelaine A, Fardeau M, Laporte J, Tizzano E and Romero NB.

    Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

    MUSCLE & NERVE . 59(1): 137-141. Number of citations: 7

    [doi:10.1002/mus.26305]

  • Tizzano E and Zafeiriou D.

    Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 22(6): 944-950. Number of citations: 22

    [doi:10.1016/j.ejpn.2018.08.009]