People / Staff

Andrés Nascimento Osorio

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Publications

  • Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.

    Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

    Journal of neuromuscular diseases . 12(6): 837-848.

    [doi:10.1177/22143602251361190]

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

    Neuromuscular diseases in pediatrics with specific treatments

    MEDICINA-BUENOS AIRES . 85: 34-40.

  • Cerezo, S, Exposito-Escudero JM, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A and Ortez-Gonzalez CI.

    Immune-mediated polyneuropathies

    MEDICINA-BUENOS AIRES . 85: 41-46.

  • Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.

    Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70206]

  • Armijo JA, Nascimento-Osorio A, Exposito-Escudero JM, Carrera-García L, Natera-de Benito D and Ortez-Gonzalez CI.

    Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 44(3): 96-103.

    [doi:10.36185/2532-1900-1219]

  • Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

    BRAIN . 148(9): 3215-3227. Number of citations: 1

    [doi:10.1093/brain/awaf116]

  • Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento-Osorio A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA and Kang PB.

    Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

    FEBS JOURNAL . 292(18): 4854-4869. Number of citations: 2

    [doi:10.1111/febs.17406]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547.

    [doi:10.1002/acn3.70088]

  • 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 . : .

    [doi:10.1093/jnen/nlaf083]