People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • 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. Number of citations: 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): .

    [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. Number of citations: 7

    [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): . Number of citations: 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. Number of citations: 1

    [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. Number of citations: 16

    [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. Number of citations: 20

    [doi:10.3233/JND-230122]

  • Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD and Mercuri E.

    Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

    ANNALS OF NEUROLOGY . 94(6): 1126-1135. Number of citations: 11

    [doi:10.1002/ana.26788]

  • Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano E, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E and Servais L.

    Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.

    Annals of Clinical and Translational Neurology . 10(11): 2155-2160. Number of citations: 12

    [doi:10.1002/acn3.51889]

  • Blasco-Pérez L, Iranzo-Nuez L, López-Ortega R, Martínez-Cruz D, Camprodon-Gómez M, Tenés A, Antolín M, Tizzano E and García-Arumí E.

    An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 25(9): 692-701. Number of citations: 3

    [doi:10.1016/j.jmoldx.2023.06.006]