Search publications

Publications

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 17

    [doi:10.1160/TH10-02-0085]

  • Paré L, Paez D, Salazar J, Del Rio E, Tizzano E, Marcuello E and Baiget M.

    Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.

    BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . 70(2): 268-272. Number of citations: 13

    [doi:10.1111/j.1365-2125.2010.03683.x]

  • Febrer A, Rodriguez N, Alias L and Tizzano E.

    Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

    JOURNAL OF REHABILITATION MEDICINE . 42(3): 228-231. Number of citations: 29

    [doi:10.2340/16501977-0507]

  • Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano E and Najmabadi H.

    Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

    EUROPEAN JOURNAL OF NEUROLOGY . 17(1): 160-162. Number of citations: 27

    [doi:10.1111/j.1468-1331.2009.02693.x]

  • Belvís R, Tizzano E, Martí-Fàbregas J, Leta RG, Baena M, Carreras F, Pons-Lladó G, Baiget M and Martí-Vilalta JL.

    Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.

    Clinical Neurology and Neurosurgery . 111(7): 574-578. Number of citations: 17

    [doi:10.1016/j.clineuro.2009.04.004]

  • Martínez-Hernández R, Soler-Botija C, Also E, Alias L, Caselles L, Gich I, Bernal S and Tizzano E.

    The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 68(5): 474-481. Number of citations: 93

    [doi:10.1097/NEN.0b013e3181a10ea1]