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Publicaciones

  • Soler-Botija C, Ferrer I, Gich I, Baiget M and Tizzano E.

    Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.

    BRAIN . 125(Pt 7): 1624-1634. Nº de citas: 90

    [doi:10.1093/brain/awf155]

  • Tizzano E, Cornet M, Domènech M and Baiget M.

    Modifier genes in haemophilia: their expansion in the human genome.

    HAEMOPHILIA . 8(3): 250-254. Nº de citas: 18

    [doi:10.1046/j.1365-2516.2002.00623.x]

  • Tizzano E, Soria JM, Coll I, Guzmán B, Cornet M, Altisent C, Martorell M, Domenech M, del Río E, Fontcuberta J and Baiget M.

    The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.

    HAEMATOLOGICA . 87(3): 279-285. Nº de citas: 47

  • Tizzano E, Cuscó I, Barceló MJ, Parra J and Baiget M.

    Should gamete donors be tested for spinal muscular atrophy?

    FERTILITY AND STERILITY . 77(2): 409-411. Nº de citas: 12

    [doi:10.1016/s0015-0282(01)02994-6]

  • Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M and Tizzano E.

    Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

    HUMAN GENETICS . 108(3): 222-229. Nº de citas: 41

    [doi:10.1007/s004390000452]

  • 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 10

    [doi:10.1212/wnl.48.5.1443]