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  • Gómez-Andrés D, Munell F, Pascual Pascual SI, Vázquez López M, Cols M, García Campos O, Garrido C, Antonia Grimalt M, Hernandez A, Madruga-Garrido M, Medina J, Molera C, Moreno T, Muñoz Cabello B, Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.

    Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis.

    Neurologia . 41(4): 501935-501935.

    [doi:10.1016/j.nrleng.2026.501935]

  • Gomez-Andres, D., Munell, F., Pascual, S. I. Pascual, Vazquez Lopez, M., Cols M, Campos, O. Garcia, Garrido, C., Grimalt, M. Antonia, Hernandez, A., Madruga-Garrido, M., Medina, J., Molera C, Moreno, T., Munoz Cabello, B., Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.

    Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis

    NEUROLOGIA . 41(4): .

    [doi:10.1016/j.nrl.2025.501935]

  • Tachó-Piñot R, Bashour H, Filipska M, Corral-Vazquez C, Guzman M, Marcos-Fa X, Martinuzzi D, Honner H, Canales Herrerias P, Tejedor Vaquero S, Sáez Gordón A, Perera-Bel J, Domínguez Barragán J, Arcos-Ribas B, de Campos-Mata L, Slabodkin A, Chernigovskaya M, Rodríguez de la Concepción ML, Gutierrez-Marcos J, García-García AP, Nascimento-Osorio A, Pascal M, Yagüe-Ribes J, Juan-Otero M, Arostegui-Gorospe JI, Hijano Esqué R, Sánchez Font A, Ehl S, Grimbacher B, Rizzi M, Dotta L, Chen K, Badolato R, Alsina L, Mehandru S, Cunningham-Rundles C, Carrillo J, Magri G, Greiff V and Cerutti A.

    IgD from atypical-like memory B cells and plasma cells targets commensal and environmental antigens

    JOURNAL OF EXPERIMENTAL MEDICINE . 223(5): . Number of citations: 1

    [doi:10.1084/jem.20251752]

  • Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento-Osorio A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Furgerson M, Ding K, Singh P, Potter R, Asher DR, Murphy AP, Reid C, Hooper G, Torre CO, Manfrini M and Rodino-Klapac LR.

    Two-Year Outcomes Following Delandistrogene Moxeparvovec Treatment in Ambulatory Patients with Duchenne Muscular Dystrophy: Phase 3 EMBARK Trial

    Neurology and Therapy . 15(2): 545-559. Number of citations: 2

    [doi:10.1007/s40120-025-00879-8]

  • Zwingli G, Putananickal N, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Amthor H, Childs AM, Deconinck N, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Nascimento-Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D and Henzi BC.

    Safety and efficacy of tamoxifen in patients with duchenne muscular dystrophy: open label extension of TAMDMD trial

    NEUROMUSCULAR DISORDERS . 61: 106366-106366.

    [doi:10.1016/j.nmd.2026.106366]

  • Muntoni, F, Nascimento-Osorio A, Shin, J, Guglieri, M, Stettner, GM, Veerapandiyan, A, Gallo, S, Shi, HL, Gundapaneni, B, Neelakantan, S, Lobello, K, Shen, Q, Levy, D and Mercuri, E.

    Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised placebo-controlled study

    LANCET NEUROLOGY . 25(3): 245-255. Number of citations: 1

  • Domínguez-González C, Barba Romero MÁ, Caballero Eraso C, de Las Heras J, Farrero Muñoz E, García-Campos Ó, González M, Grau JM, Hernández-Voth A, Juntas Morales R, León Hernández JC, Ley Martos M, López-Padilla D, Muelas N, Nascimento-Osorio A, Olivé M, Paradas C, Pardo Fernández J, Pascual SI, Pitarch I, Sancho J and Díaz-Manera J.

    Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

    Neurologia . 41(2): 501933-501933.

    [doi:10.1016/j.nrleng.2025.501933]

  • Nafria-Escalera B, Claverol J, Cubells M, Llanos C, Solé L, Sans E, López S, Català-Mora J, Rives-Solà S, Morales-La Madrid A, Pineda M, Garcia-Cazorla A, Nascimento-Osorio A, Morales-Ballús M, Roe D, Fortuny-Guasch C and Phillips B.

    Cross-border access to clinical trials: participation of pediatric patients and language inclusion

    PEDIATRIC RESEARCH . : .

    [doi:10.1038/s41390-026-04820-z]

  • Audhya I, Nacson AB, Gooch K, Basnyat B, Slota C, Martin S, Murphy A, Lansdall CJ, Ciobanu T, Nascimento-Osorio A and Veerapandiyan A.

    Caregiver-reported Patient Experiences with Duchenne Muscular Dystrophy: Qualitative In-trial Interviews 1 Year After Delandistrogene Moxeparvovec in the Pivotal EMBARK Trial

    Neurology and Therapy . 15(1): 41-60.

    [doi:10.1007/s40120-025-00842-7]

  • Severa, G, Bastu, S, Borin, GU, Decrouy, X, Codina-Bergadà A, Kefi, K, Periou, B, Nadaj-Pakleza, A, Lannes, B, Sacconi, S, Maurage, CA, Tard, C, Jou-Munoz C, Nascimento-Osorio A, Taglietti, V and Malfatti, E.

    Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 85(1): 84-92.

    [doi:10.1093/jnen/nlaf083]