Personas / Equipo Humano

Andrés Nascimento Osorio

Buscador de publicaciones

Publicaciones

  • Keogh MJ, Töpf A, Marini-Bettolo C, Guglieri M, Colomer J, Nascimento-Osorio A, Olive M, Alvarez R, Durmus H, Nafissi S, Bastian A, Diaz-Manera J and Straub V.

    Autosomal recessive desminopathy: an under-recognised disorder.

    NEUROMUSCULAR DISORDERS . 67: 107372-107372.

    [doi:10.1016/j.nmd.2026.107372]

  • Nascimento-Osorio A, Barros Acevedo G, Beytía MLÁ, Bobadilla Quesada EJ, Castellar-Leones SM, Castiglioni C, Casartelli Galeano MJ, Contreras Caicedo G, Cordero Molina MF, Escobar Cedillo RE, Espinel F, Earle N, Franco Toñanez CA, Galvez Quiñonez HH, Gurgel-Giannetti J, Gutiérrez Mata AP, Hervias Ruz MC, Linzoain JE, Lucero MA, Medici C, Mesa Restrepo SC, Meza Cano ME, Monges S, Munive Baez LM, Núñez Antelo LI, Odales Ibarra RR, Artiga-Rodríguez VD, Pérez Almengor ES, Martínez Esteban PC, Ramírez-Montaño D, Moreno-Salgado R, Ruiz García M, Sáez Galaz V, Vargas Cañas ES, Bevilacqua JA, Zanoteli E, Zuniga García CJ, Gueçaimburu MR, Gutiérrez-Saenz M and Armijo Gómez JA.

    Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.

    REVISTA DE NEUROLOGIA . 81(9): 53782-53782.

    [doi:10.31083/RN53782]

  • 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]

  • 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. Nº de citas: 1

    [doi:10.1016/j.gim.2026.102558]