Buscador de publicaciones

Publicaciones

  • 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]

  • 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. Nº de citas: 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. Nº de citas: 220

    [doi:10.1038/ng1195-335]