Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • Venceslá Á, Baena M, Garrido RP, Núñez R, Velasco F, Rosell J, Villar A, Jiménez-Yuste V, Baiget M and Tizzano E.

    F8 gene dosage defects in atypical patients with severe haemophilia A.

    HAEMOPHILIA . 18(5): 708-713. Nº de citas: 6

    [doi:10.1111/j.1365-2516.2012.02818.x]

  • Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S and Tizzano E.

    Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 25(8): 1246-1249. Nº de citas: 8

    [doi:10.3109/14767058.2011.636101]

  • Tapia O, Bengoechea R, Palanca A, Arteaga R, Val-Bernal JF, Tizzano E, Berciano MT and Lafarga M.

    Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.

    HISTOCHEMISTRY AND CELL BIOLOGY . 137(5): 657-667. Nº de citas: 44

    [doi:10.1007/s00418-012-0921-8]

  • Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano E, Gamez J, Park K, Yoo HW, Lee JK and Kim KK.

    Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.

    NEUROMUSCULAR DISORDERS . 22(5): 394-400. Nº de citas: 24

    [doi:10.1016/j.nmd.2011.11.006]

  • Febrer A, Vigo-Morancho M, Fagoaga J, Medina J, Rodríguez N and Tizzano E.

    Escala de valoración funcional de Hammersmith para niños con atrofia muscular espinal. Validación de la versión española.

    REVISTA DE NEUROLOGIA . 53(11): 657-663. Nº de citas: 5

    [doi:10.33588/rn.5311.2011459]

  • Also-Rallo E, Alías L, Martínez-Hernández R, Caselles L, Barceló MJ, Baiget M, Bernal S and Tizzano E.

    Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 19(10): 1059-1065. Nº de citas: 26

    [doi:10.1038/ejhg.2011.89]

  • Alías L, Bernal S, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Hernández-Chico C, Baiget M and Tizzano E.

    Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.

    GENETIC TESTING AND MOLECULAR BIOMARKERS . 15(9): 587-594. Nº de citas: 28

    [doi:10.1089/gtmb.2010.0253]

  • Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M and Tizzano E.

    Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

    NEUROMUSCULAR DISORDERS . 21(6): 413-419. Nº de citas: 55

    [doi:10.1016/j.nmd.2011.03.009]

  • Parra J, Martínez-Hernández R, Also-Rallo E, Alias L, Barceló MJ, Amenedo M, Medina C, Senosiain R, Calaf J, Baiget M, Bernal S and Tizzano E.

    Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.

    NEUROMUSCULAR DISORDERS . 21(2): 97-101. Nº de citas: 17

    [doi:10.1016/j.nmd.2010.09.010]

  • Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano E and Jiménez-Yuste V.

    Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.

    THROMBOSIS AND HAEMOSTASIS . 104(4): 718-723. Nº de citas: 17

    [doi:10.1160/TH10-02-0085]