Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Soler-Botija C, Cuscó I, Caselles L, López E, Baiget M and Tizzano E.

    Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 64(3): 215-223. Nº de citas: 44

    [doi:10.1093/jnen/64.3.215]

  • Soler-Botija C, Cuscó I, López E, Clua A, Gich I, Baiget M, Ferrer I and Tizzano E.

    Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

    NEUROMUSCULAR DISORDERS . 15(3): 253-258. Nº de citas: 8

    [doi:10.1016/j.nmd.2004.11.006]

  • Cuscó I, Barceló MJ, del Río E, Baiget M and Tizzano E.

    Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

    Neurology . 63(1): 146-149. Nº de citas: 50

    [doi:10.1212/01.wnl.0000132634.48815.13]

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

    Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22.

    HAEMOPHILIA . 9(5): 584-587. Nº de citas: 6

    [doi:10.1046/j.1365-2516.2003.00813.x]

  • Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M and Tizzano E.

    A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

    HUMAN MUTATION . 22(2): 136-143. Nº de citas: 40

    [doi:10.1002/humu.10245]

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

    Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 62(4): 420-426. Nº de citas: 33

    [doi:10.1093/jnen/62.4.420]

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

    Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

    HUMAN MUTATION . 20(6): 452-459. Nº de citas: 33

    [doi:10.1002/humu.10144]

  • Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, Baiget M, Cervera C and Tizzano E.

    Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

    Neurology . 59(9): 1456-1460. Nº de citas: 27

    [doi:10.1212/01.wnl.0000032496.64510.4e]

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

    Prenatal diagnosis for risk of spinal muscular atrophy.

    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY . 109(11): 1244-1249. Nº de citas: 20

    [doi:10.1016/S1470-0328(02)02983-X]

  • Rojas-García R, Tizzano E, Cuscó I, Gallardo E, Barceló MJ, de Andrés I, Larrodé P, Martí-Massó JF, Martínez-Matos JA, Povedano M, Rallo B, Serrano S, Baiget M and Illa I.

    The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy.

    Neurology . 59(7): 1112-1113. Nº de citas: 5

    [doi:10.1212/wnl.59.7.1112]