Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Martinez-Marin RJ, Reyes-Leiva D, Nascimento-Osorio A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S and Díaz-Manera J.

    Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    NEUROMUSCULAR DISORDERS . 34: 1-8.

    [doi:10.1016/j.nmd.2023.10.001]

  • Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

    Journal of neuromuscular diseases . 11(3): 647-653.

    [doi:10.3233/JND-230216]

  • Henzi, BC, Schmidt, S, Nagy, S, Rubino-Nacht, D, Schaedelin, S, Putananickal, N, Stimpson, G, Consortium, NS, Amthor, H, Childs, AM, Deconinck, N, de Groot, I, Horrocks, I, Opstal, SHV, Laugel, V, Lobato, ML, Garrido, MM, Nascimento-Osorio A, Schara-Schmidt, U, Spinty, S, von Moers, A, Lawrence, F, Hafner, P, Dorchies, OM and Fischer, D.

    Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    LANCET NEUROLOGY . 22(10): 890-899. Nº de cites: 7

    [doi:10.1016/S1474-4422(23)00285-5]

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Dominguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Nº de cites: 2

    [doi:10.1136/jmg-2022-109132]

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

    Gene therapy: Where are we? Where are we going?

    MEDICINA-BUENOS AIRES . 83: 13-17. Nº de cites: 1

  • Suárez-Calvet X, Fernández-Simón E, Natera-de Benito D, Jou-Munoz C, Pinol-Jurado P, Villalobos E, Ortez-Gonzalez CI, Monceau A, Schiava M, Codina-Bergadà A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento-Osorio A and Diaz-Manera J.

    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    CELL DEATH & DISEASE . 14(9): 596-596. Nº de cites: 3

    [doi:10.1038/s41419-023-06103-5]

  • 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: 10

    [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: 9

    [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: 33

    [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]