Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC and Finkel RS.

    Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

    NEW ENGLAND JOURNAL OF MEDICINE . 378(7): 625-635. Nº de citas: 1013

    [doi:10.1056/NEJMoa1710504]

  • Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y and Sejersen T.

    Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

    NEUROMUSCULAR DISORDERS . 28(2): 103-115. Nº de citas: 676

    [doi:10.1016/j.nmd.2017.11.005]

  • 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. Nº de citas: 1614

    [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. Nº de citas: 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. Nº de citas: 132

    [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. Nº de citas: 84

    [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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 17

    [doi:10.1016/j.ejpn.2016.07.017]