Research

Applied research in neuromuscular diseases

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Publications

  • 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. Number of citations: 1

    [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]

  • 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): . Number of citations: 2

    [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. Number of citations: 4

    [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: 10

    [doi:10.1093/brain/awad153]

  • 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. Number of citations: 2

    [doi:10.1136/jmg-2022-109132]

  • 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. Number of citations: 7

    [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. Number of citations: 2

    [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: 6

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