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Eduardo Fidel Tizzano Ferrari

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Publications

  • Tizzano E and Baiget M.

    Bases moleculares de la atrofia muscular espinal: el gen SMN.

    NEUROLOGIA . 15(9): 393-400.

  • Montejo JM, Magallón M, Tizzano E and Solera J.

    Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.

    HUMAN MUTATION . 13(2): 160-165. Number of citations: 25

    [doi:10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C]

  • Tizzano E, Cabot C and Baiget M.

    Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.

    AMERICAN JOURNAL OF PATHOLOGY . 153(2): 355-361. Number of citations: 42

    [doi:10.1016/S0002-9440(10)65578-2]

  • Loureiro González B, Justa Roldán ML, Rite García S, Marco Tello A, Calvo González M, Baiget Bastus M, Tizzano E and López Pisón J.

    Importancia del diagnóstico genético en un caso atípico de atrofia muscular espinal tipo I.

    Anales espanoles de pediatria . 48(6): 644-646.

  • Bussaglia E, Tizzano E, Illa I, Cervera C and Baiget M.

    Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.

    Neurology . 48(5): 1443-1445. Number of citations: 10

    [doi:10.1212/wnl.48.5.1443]

  • Bussaglia E, Tizzano E and Baiget M.

    Contribución de la genética molecular al estudio de la atrofia muscular espinal.

    NEUROLOGIA . 11 Suppl 5: 14-19.

  • Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano E, Baiget M, Silani V, Pizzuti A, Novelli G and Dallapiccola B.

    Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

    HUMAN MUTATION . 7(3): 198-201. Number of citations: 6

    [doi:10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7]

  • Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A and et al..

    A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

    NATURE GENETICS . 11(3): 335-337. Number of citations: 220

    [doi:10.1038/ng1195-335]

  • Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano E, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D and Inaba H.

    Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

    Blood . 86(6): 2206-2212. Number of citations: 291

    [doi:10.1182/blood.V86.6.2206.bloodjournal8662206]

  • Tizzano E and Buchwald M.

    CFTR expression and organ damage in cystic fibrosis.

    ANNALS OF INTERNAL MEDICINE . 123(4): 305-308. Number of citations: 50

    [doi:10.7326/0003-4819-123-4-199508150-00009]