Persones / Equip Humà

Eduardo Fidel Tizzano Ferrari

Buscador de publicacions

Publicacions

  • Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano E, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.

    Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

    MOVEMENT DISORDERS . 39(9): 1578-1591. Nº de cites: 7

    [doi:10.1002/mds.29881]

  • Totten V, Teixido-Tura G, Lopez-Grondona F, Fernandez-Alvarez P, Lasa-Aranzasti A, Muñoz-Cabello P, Kosaki R, Tizzano E, Dewals W, Borràs E, Cañas EG, Almoguera B, Loeys B and Valenzuena I.

    Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

    JOURNAL OF MEDICAL GENETICS . 61(9): 870-877. Nº de cites: 1

    [doi:10.1136/jmg-2024-109861]

  • Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S and Tizzano E.

    Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

    NEUROLOGY-GENETICS . 10(4): . Nº de cites: 4

    [doi:10.1212/NXG.0000000000200175]

  • Glennie L, Solà MC, Xunclà M, Español GA, Garcia-Arumí E, Tizzano E, Wood NT, Macartney TJ, Lasa-Aranzasti A and Sapkota GP.

    A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1a interaction.

    OPEN BIOLOGY . 14(7): 240075-240075. Nº de cites: 1

    [doi:10.1098/rsob.240075]

  • Antolin M, Tarrasó G, Sánchez MÁ, Plaja A, Martínez-Cruz D, Xunclà M, Castells N, Carreras E, Tizzano E and García-Arumí E.

    Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

    Journal of Clinical Medicine . 13(14): . Nº de cites: 1

    [doi:10.3390/jcm13144007]

  • Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, Moreno T, Klein A, Kostera-Pruszczyk A, Mercuri E, Quijano-Roy S, Sejersen T, Tizzano E, van der Pol WL, Wallace S, Zafeiriou D, Ziegler A, Muntoni F and Servais L.

    2024 update: European consensus statement on gene therapy for spinal muscular atrophy.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 73-78. Nº de cites: 12

    [doi:10.1016/j.ejpn.2024.06.001]

  • Gartner S, Roca-Ferrer J, Fernandez-Alvarez P, Lima I, Rovira-Amigo S, García-Arumi E, Tizzano E and Picado C.

    Elevated Prostaglandin E(2) Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis.

    Journal of Clinical Medicine . 13(7): . Nº de cites: 1

    [doi:10.3390/jcm13072050]

  • Cattinari MG, de Lemus M and Tizzano E.

    RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy.

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 76-76. Nº de cites: 6

    [doi:10.1186/s13023-024-03071-7]

  • Yeo CJJ, Tizzano E and Darras BT.

    Challenges and opportunities in spinal muscular atrophy therapeutics.

    LANCET NEUROLOGY . 23(2): 205-218. Nº de cites: 19

    [doi:10.1016/S1474-4422(23)00419-2]

  • Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano E, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA and Finkel RS.

    Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

    Journal of neuromuscular diseases . 11(2): 425-442. Nº de cites: 22

    [doi:10.3233/JND-230122]