People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • 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. Number of citations: 1598

    [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. Number of citations: 101

    [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. Number of citations: 131

    [doi:10.1038/gt.2017.52]

  • López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M and Oliva-Moreno J.

    Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 141-141. Number of citations: 83

    [doi:10.1186/s13023-017-0695-0]

  • Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T and Tizzano E.

    Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 60(6): 303-307. Number of citations: 8

    [doi:10.1016/j.ejmg.2017.03.010]

  • Fernández-Cancio M, García-García E, González-Cejudo C, Martínez-Maestre MA, Mangas-Cruz MA, Guerra-Junior G, Pandi de Mello M, Arnhold IJP, Nishi MY, Bilharinho Mendonça B, García-Arumí E, Audí L, Tizzano E and Carrascosa A.

    Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17a-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

    Sexual Development . 11(2): 70-77. Number of citations: 7

    [doi:10.1159/000468160]

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano E, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

    SCIENTIFIC REPORTS . 7: 44138-44138. Number of citations: 29

    [doi:10.1038/srep44138]

  • Medrano S, Monges S, Gravina LP, Alías L, Mozzoni J, Aráoz HV, Bernal S, Moresco A, Chertkoff L and Tizzano E.

    Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 20(6): 910-917. Number of citations: 17

    [doi:10.1016/j.ejpn.2016.07.017]

  • Oliván S, Calvo AC, Rando A, Herrando-Grabulosa M, Manzano R, Zaragoza P, Tizzano E, Aquilera J and Osta R.

    Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 9: 76-76. Number of citations: 12

    [doi:10.3389/fnmol.2016.00076]

  • Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R and Tizzano E.

    A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

    CYTOGENETIC AND GENOME RESEARCH . 146(3): 181-186. Number of citations: 8

    [doi:10.1159/000439463]