People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • 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]

  • Boza-Morán MG, Martínez-Hernández R, Bernal S, Wanisch K, Also-Rallo E, Le Heron A, Alías L, Denis C, Girard M, Yee JK, Tizzano E and Yáñez-Muñoz RJ.

    Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

    SCIENTIFIC REPORTS . 5: 11696-11696. Number of citations: 32

    [doi:10.1038/srep11696]

  • Alías L, Bernal S, Barceló MJ, Martínez-Hernández R, Martínez E, Baiget M and Tizzano E.

    Analysis of the C9orf72 gene in spinal muscular atrophy patients.

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 15(7-8): 563-568. Number of citations: 2

    [doi:10.3109/21678421.2014.929148]

  • Martínez-Hernández R, Bernal S, Alias L and Tizzano E.

    Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 73(6): 559-567. Number of citations: 35

    [doi:10.1097/NEN.0000000000000078]