Personas / Equipo Humano

Andrés Nascimento Osorio

Buscador de publicaciones

Publicaciones

  • Muhmann D, Haliloglu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yildiz AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estévez-Arias B, Vicente EC, Nascimento-Osorio A, Marina AD, Natera-de Benito D and Roos A.

    Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

    EUROPEAN JOURNAL OF NEUROLOGY . 33(9): .

    [doi:10.1111/ene.70742]

  • Carrera-García L, Estévez-Arias B, Nascimento-Osorio A, Exposito-Escudero JM, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Tizzano E, Natera-de Benito D and Ortez-Gonzalez CI.

    Patrón clínico y evolución de la enfermedad de Charcot-Marie-Tooth en pediatría.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 1-6.

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Estévez-Arias B, Tizzano E and Natera-de Benito D.

    Fenotipos de distrofia muscular congénita.

    MEDICINA-BUENOS AIRES . 86 Suppl 3: 7-13.

  • Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.

    Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261453996]

  • Pitarch-Castellano I, Ortez-Gonzalez CI, Nascimento-Osorio A, Aguilera López P, Blanco Barca MO, Camacho-Salas A, García-Campos O, García-Jiménez MC, García-Romero M, Gómez-Andrés D, Grimalt-Calatayud MA, Hernández-Fabián A, Málaga-Diéguez I, Madruga-Garrido M, Marti-Carrera I, Martín-Viota L, Martínez-García MJ, Ramos-Fernández JM, Sánchez-Carpintero Abad R, Vázquez-Martín S and Giró-Perafita A.

    Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain.

    Neurologia . 41(6): 502007-502007.

    [doi:10.1016/j.nrleng.2026.502007]

  • 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 . : . Nº de citas: 1

    [doi:10.1177/22143602261432401]

  • 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]

  • Gómez-Andrés, D, Munell, F, Pascual, SIP, López, MV, Cols M, Campos, OG, Garrido, C, Grimalt, MA, Hernandez, A, Madruga-Garrido, M, Medina J, Molera C, Moreno, T, Cabello, BM, 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]

  • 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]