Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Maurino J, Carrera-García L, Castro-Fernández P, Málaga I, Nascimento-Osorio A and Saposnik G.

    Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout

    PLoS One . 21(6): .

    [doi:10.1371/journal.pone.0350643]

  • Moreno CAM, Fernandes TR, Camelo CG, Keller G, Di Pace F, Dousseau GC, Fonseca ATQSM, Campos ED, Anjos Lança APD, Artilheiro MC, Serafim da Silva AM, Paiva MA, Nascimento-Osorio A and Zanoteli E.

    Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261432401]

  • Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.

    Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

    GENETICS IN MEDICINE . 28(5): 102558-102558.

    [doi:10.1016/j.gim.2026.102558]

  • 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]

  • Cicala, G, Capasso, A, Villa, M, Coratti, G, Arpaia, C, Agosto, C, Corti, S, Ricci, F, Bruno, C, Matesanz, S, Gross, B, Mendoza, DG, Kuntz, N, Kirschner, J, Ziegler, A, Servais, L, Asselman, FL, van der Pol, L, Castiglioni, C, Nascimento-Osorio A, Tizzano E, Mendonça, RH, Zanoteli, E, Munot, P, Scoto, M, Finkel, R, Pane, M, Tiziano, FD and Mercuri, E.

    The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study

    EClinicalMedicine . 95: .

    [doi:10.1016/j.eclinm.2026.103931]

  • 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): . Nº de cites: 1

    [doi:10.1084/jem.20251752]

  • 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]

  • 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. Nº de cites: 2

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

  • 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. Nº de cites: 1