People / Staff

Eduardo Fidel Tizzano Ferrari

Search publications

Publications

  • 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. Number of citations: 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. Number of citations: 74

    [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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 5

    [doi:10.33588/rn.5311.2011459]