Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Mercuri, E, Nascimento-Osorio A, Muntoni, F, Buccella, F, Desguerre, I, Kirschner, J, Tulinius, M, de Resende, MBD, Morgenroth, LP, Gordish-Dressman, H, Johnson, S, Kristensen, A, Werner, C, Trifillis, P, Henricson, EK and McDonald, CM.

    Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis

    JOURNAL OF NEUROLOGY . 270(8): 3896-3913. Nº de cites: 11

    [doi:10.1007/s00415-023-11687-1]

  • Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A, Codina-Bergadà A, Rodriguez MJ, Gallano P and Gonzalez-Quereda L.

    Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

    JOURNAL OF MEDICAL GENETICS . 60(6): 615-619. Nº de cites: 11

    [doi:10.1136/jmg-2022-108828]

  • Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento-Osorio A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P and Mercuri E.

    Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

    JOURNAL OF NEUROLOGY . 270(5): 2531-2546. Nº de cites: 37

    [doi:10.1007/s00415-023-11560-1]

  • Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.

    Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .

    [doi:10.3390/ijms24076358]

  • Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.

    Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    ACTA NEUROPATHOLOGICA . 145(4): 479-496. Nº de cites: 2

    [doi:10.1007/s00401-023-02551-7]

  • César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.

    LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

    Frontiers in Genetics . 14: 1135438-1135438. Nº de cites: 4

    [doi:10.3389/fgene.2023.1135438]

  • César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G.

    Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

    Frontiers in Cell and Developmental Biology . 11: 1142937-1142937. Nº de cites: 3

    [doi:10.3389/fcell.2023.1142937]

  • Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.

    Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

    Annals of Clinical and Translational Neurology . 10(3): 408-425. Nº de cites: 1

    [doi:10.1002/acn3.51731]

  • Rodríguez Cruz PM, Ravenscroft G, Natera-de Benito D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento-Osorio A, Muntoni F, Polavarapu K, Lochmüller H, Palace J and Beeson D.

    A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

    NEUROMUSCULAR DISORDERS . 33(2): 161-168. Nº de cites: 2

    [doi:10.1016/j.nmd.2022.12.011]

  • El-Hassar, L, Amara, A, Sanson, B, Lacatus, O, Belhouchet, AA, Kroneman, M, Claeys, K, Plancon, JP, Rodolico, C, Primiano, G, Trojsi, F, Filosto, M, Mongini, TE, Bortolani, S, Monforte, M, Carraro, E, Maggi, L, Ricci, F, Silani, V, Orsucci, D, Créange, A, Péréon, Y, Stojkovic, T, van der Beek, NAME, Toscano, A, Pareyson, D, Attarian, S, Van den Bergh, PYK, Remiche, G, Hoeijmakers, JGJ, Badrising, U, Voermans, NC, Kaindl, AM, Schara-Schmidt, U, Schoser, B, Gazzerro, E, Haberlová, J, Vohánka, S, Pál, E, Molnar, MJ, Leonardis, L, Tournev, IL, Nascimento-Osorio A, Olivé, M, Muelas, N, Alonso-Perez, J, Plá, F, de Visser, M, Siciliano, G and Sacconi, S.

    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

    Journal of neuromuscular diseases . 10(2): 173-184. Nº de cites: 3

    [doi:10.3233/JND-221525]