Buscador de publicacions

Publicacions

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Nº de cites: 79

    [doi:10.1371/journal.pone.0148709]

  • Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez-Gonzalez CI, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J and Nascimento-Osorio A.

    Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    NEUROMUSCULAR DISORDERS . 26(2): 153-159. Nº de cites: 21

    [doi:10.1016/j.nmd.2015.10.013]

  • Paco-Mercader S, Casserras T, Rodríguez-García MA, Jou-Munoz C, Puigdelloses M, Ortez-Gonzalez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento-Osorio A, Kalko SG and Jimenez-Mallebrera C.

    Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

    PLoS One . 10(12): . Nº de cites: 17

    [doi:10.1371/journal.pone.0145107]

  • Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento-Osorio A, Ortez-Gonzalez CI, Baiget M and Gallano P.

    DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

    PLoS One . 10(8): . Nº de cites: 64

    [doi:10.1371/journal.pone.0135189]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de cites: 8

    [doi:10.1016/j.mito.2015.03.001]

  • Rodrigues F, Grenha J, Ortez-Gonzalez CI, Nascimento-Osorio A, Morte B, M-Belinchón M, Armstrong-Moron J and Colomer J.

    Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

    BMC PEDIATRICS . 14(1): 252-252. Nº de cites: 13

    [doi:10.1186/1471-2431-14-252]

  • Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM and PTC124-GD-007-DMD STUDY GROUP.

    ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY

    MUSCLE & NERVE . 50(4): 477-487. Nº de cites: 258

    [doi:10.1002/mus.24332]

  • Casado-Rio M, Altimira-Queral L, Montero-Sanchez R, Castejón E, Nascimento-Osorio A, Pérez-Dueñas B, Ormazabal-Herrero A and Artuch-Iriberri R.

    A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

    ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 406(18): 4337-4343. Nº de cites: 7

    [doi:10.1007/s00216-014-7832-6]

  • Kalko SG, Paco-Mercader S, Jou-Munoz C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch-Iriberri R, Montero-Sanchez R, Torner-Rubies F, Nascimento-Osorio A, Ortez-Gonzalez CI, Colomer J and Jimenez-Mallebrera C.

    Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

    BMC Genomics . 15: 91-91. Nº de cites: 79

    [doi:10.1186/1471-2164-15-91]

  • Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento-Osorio A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C and Lochmüller H.

    Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

    JOURNAL OF NEUROLOGY . 261(1): 152-163. Nº de cites: 55

    [doi:10.1007/s00415-013-7154-1]