Research

Applied research in neuromuscular diseases

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Publications

  • 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]

  • 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, Pandey UB, 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 . : .

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

  • 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]

  • Pitarch-Castellano, I, Hervás, D, Cattinari, MG, Albert, EI, Lobato, ML, Garzón, NCN, Rojas, J, Puig-Ram C and Madruga-Garrido, M.

    Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry

    CHILDREN-BASEL . 10(12): .

    [doi:10.3390/children10121880]

  • Luo Y, Acevedo D, Vlagea A, Codina-Bergadà A, García-García AP, Deyà-Martinez A, Martí-Castellote C, Esteve-Solé A and Alsina L.

    Changes in Treg and Breg cells in a healthy pediatric population

    FRONTIERS IN IMMUNOLOGY . 14: 1283981-1283981.

    [doi:10.3389/fimmu.2023.1283981]

  • Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Della Marina A, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A and Jungbluth H.

    The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

    BRAIN . 146(10): 4233-4246. Number of citations: 5

    [doi:10.1093/brain/awad153]

  • 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. Number of citations: 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. Number of citations: 1

  • García-Galant M, Blasco M, Laporta O, Berenguer-González A, Moral-Salicrú P, Ballester J, Caldú X, Miralbell J, Xenia Alonso, Medina J, Elsa Povedano Bulló, Leiva D, Boyd RN and Pueyo R.

    A randomized controlled trial of a home-based computerized executive function intervention for children with cerebral palsy

    EUROPEAN JOURNAL OF PEDIATRICS . 182(10): 4351-4363.

    [doi:10.1007/s00431-023-05072-3]

  • 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. Number of citations: 1

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