People / Staff

Carlos Ignacio Ortez Gonzalez

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Publications

  • Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento-Osorio A, Ortez-Gonzalez CI, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho Díaz JA, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C and Sevilla T.

    Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

    SCIENTIFIC REPORTS . 7(1): 6677-6677. Number of citations: 18

    [doi:10.1038/s41598-017-06894-6]

  • Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento-Osorio A, Ortez-Gonzalez CI, Romero N, Palacios L, Jimenez-Mallebrera C, Jou-Munoz C, Gouveia S and Couce ML.

    Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    NEUROMUSCULAR DISORDERS . 27(2): 188-192. Number of citations: 25

    [doi:10.1016/j.nmd.2016.11.002]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.

    Neuromuscular Manifestations in Mitochondria! Diseases in Children

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Number of citations: 6

    [doi:10.1016/j.spen.2016.11.004]

  • Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento-Osorio A, Ortez-Gonzalez CI, Jaijo T, Arteaga R, Colomer J and Vilchez JJ.

    Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

    NEUROMUSCULAR DISORDERS . 26(11): 789-795. Number of citations: 15

    [doi:10.1016/j.nmd.2016.08.005]

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Number of citations: 49

    [doi:10.1016/j.mito.2016.06.007]

  • Natera-de Benito D, Nascimento-Osorio A, Abicht A, Ortez-Gonzalez CI, Jou-Munoz C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J and Lochmüller H.

    KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

    JOURNAL OF NEUROLOGY . 263(3): 517-523. Number of citations: 20

    [doi:10.1007/s00415-015-8015-x]

  • 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): . Number of citations: 119

    [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. Number of citations: 27

    [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): . Number of citations: 21

    [doi:10.1371/journal.pone.0145107]

  • Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez-Gonzalez CI, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M and Burgard P.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1041-1057. Number of citations: 171

    [doi:10.1007/s10545-015-9839-3]