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Publicacions

  • 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: 12

    [doi:10.1371/journal.pone.0145107]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Sariego A, Gerotina E, Armstrong-Moron J, Sierra C, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C and Colomer J.

    Hereditary spastic paraplegia and peroxisome biogenesis disorders: Case report of a patient with mutations in PEX10 gene

    NEUROMUSCULAR DISORDERS . 25: 223-223.

    [doi:10.1016/j.nmd.2015.06.140]

  • 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: 55

    [doi:10.1371/journal.pone.0135189]

  • Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez-García MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner-Rubies F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez-Gonzalez CI, Nascimento-Osorio A, Colomer J and Jimenez-Mallebrera C.

    Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets (vol 8, e77430, 2013)

    PLoS One . 10(5): .

    [doi:10.1371/journal.pone.0128614]

  • 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]

  • Osorio-Conles O, Rodríguez-García MA, Paco-Mercader S, Nascimento-Osorio A, Gomez-Foix AM and Jimenez-Mallebrera C.

    Role of Collagen VI as a soluble factor in the control of glucose and adipose tissue homeostasis

    NEUROMUSCULAR DISORDERS . 24(9-10): 882-882.

    [doi:10.1016/j.nmd.2014.06.294]

  • 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: 242

    [doi:10.1002/mus.24332]

  • Casado 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: 6

    [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: 68

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