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Investigació aplicada en malalties neuromusculars

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Publicacions

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 7

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

  • 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. Nº de cites: 2

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

  • 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: 5

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

  • Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.

    Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

    SCIENTIFIC REPORTS . 13(1): 14622-14622. Nº de cites: 2

    [doi:10.1038/s41598-023-41632-1]

  • 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]

  • Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez-Gonzalez CI, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA and Bönnemann CG.

    A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy

    Annals of Clinical and Translational Neurology . 10(8): 1442-1455. Nº de cites: 1

    [doi:10.1002/acn3.51834]