Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . : .

    [doi:10.1055/s-0044-1787194]

  • Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Jana Domínguez Carral, Nascimento-Osorio A and Natera-de Benito D.

    Epilepsy in Duchenne and Becker muscular dystrophies.

    Annals of Clinical and Translational Neurology . 11(6): 1456-1464.

    [doi:10.1002/acn3.52058]

  • Olorón, PM, Alegría, I, César-Díaz S, del Olmo, B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A, Campuzano, O and Sarquella-Brugada G.

    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(11): .

    [doi:10.3390/ijms25115836]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de cites: 1

    [doi:10.1038/s41431-023-01526-2]

  • Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL and Hoffman EP.

    Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

    Neurology . 102(5): .

    [doi:10.1212/WNL.0000000000208112]

  • 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 YR1-Congenital Myopathy

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

    [doi:10.3233/JND-230216]

  • 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]

  • Henzi, Bettina C., Schmidt, Simone, Nagy, Sara, Rubino-Nacht, Daniela, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Consortium, North Star, Amthor, Helge, Childs, Anne-Marie, Deconinck, Nicolas, de Groot, Imelda, Horrocks, Iain, Opstal, Saskia Houwen-van, Laugel, Vincent, Lobato, Mercedes Lopez, Garrido, Marcos Madruga, Nascimento-Osorio A, Schara-Schmidt, Ulrike, Spinty, Stefan, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M. and Fischer, Dirk.

    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: 2

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

  • 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: 2

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