Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

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

    Analysis of the C9orf72 gene in spinal muscular atrophy patients.

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 15(7-8): 563-568. Nº de citas: 2

    [doi:10.3109/21678421.2014.929148]

  • Martínez-Hernández R, Bernal S, Alias L and Tizzano E.

    Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 73(6): 559-567. Nº de citas: 35

    [doi:10.1097/NEN.0000000000000078]

  • Alías L, Barceló MJ, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán JM, Baiget M and Tizzano E.

    Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

    CLINICAL GENETICS . 85(5): 470-475. Nº de citas: 34

    [doi:10.1111/cge.12222]

  • Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento-Osorio A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C and Lochmüller H.

    Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

    JOURNAL OF NEUROLOGY . 261(1): 152-163. Nº de citas: 76

    [doi:10.1007/s00415-013-7154-1]

  • Martínez-Hernández R, Bernal S, Also-Rallo E, Alías L, Barceló MJ, Hereu M, Esquerda JE and Tizzano E.

    Synaptic defects in type I spinal muscular atrophy in human development.

    JOURNAL OF PATHOLOGY . 229(1): 49-61. Nº de citas: 74

    [doi:10.1002/path.4080]

  • Parra J and Tizzano E.

    Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 25(12): 2555-2558. Nº de citas: 1

    [doi:10.3109/14767058.2012.703720]

  • Peña L, Pico M, Rosatelli C, Meloni A, Del Río E, Tizzano E and Baiget M.

    UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2.

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 55(5): 136-137. Nº de citas: 1

    [doi:10.1097/MPG.0b013e318234ecd9]

  • 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]