Personas / Equipo Humano

Cristina Jou Muñoz

Buscador de publicaciones

Publicaciones

  • Pau-Charles I, Vicente-Villa MA, Jou-Munoz C and González-Enseñat MA.

    Acquired hypopigmented suprapubic macules

    CLINICAL AND EXPERIMENTAL DERMATOLOGY . 39(5): 655-657. Nº de citas: 1

    [doi:10.1111/ced.12319]

  • 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 citas: 110

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

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Nº de citas: 12

    [doi:10.1016/j.gene.2013.08.036]

  • Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Cusi V, Joan R. Corbera Torredeflò, Suñol M, Colomer J and Jimenez-Mallebrera C.

    Late onset infantile Pompe's disease, variability in clinical and histophatological spectrum.

    NEUROMUSCULAR DISORDERS . 23(9-10): 706-737.

  • Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez 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

    PLoS One . 8(10): . Nº de citas: 22

    [doi:10.1371/journal.pone.0077430]

  • Giménez-Roca CI, Felipe-Villalobos A, Cambra-Lasaosa FJ, Prada F, Caffarena Calvar JM and Jou-Munoz C.

    Fever, asthenia, myalgia and murmur due to cardiac myxoma

    ANALES DE PEDIATRIA . 79(4): 257-260.

    [doi:10.1016/j.anpedi.2013.02.018]

  • Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.

    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion . 13(4): 337-341. Nº de citas: 49

    [doi:10.1016/j.mito.2013.04.001]

  • Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou-Munoz C, Nascimento-Osorio A, Jimenez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M and Gallano P.

    Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

    PLoS One . 8(3): 59916. Nº de citas: 42

    [doi:10.1371/journal.pone.0059916]

  • Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.

    cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    JIMD Reports . 8: 57-62. Nº de citas: 6

    [doi:10.1007/8904_2012_161]

  • Juan-Mateu J, Rodríguez MJ, Nascimento-Osorio A, Jimenez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou-Munoz C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M and Gallano P.

    Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

    ORPHANET JOURNAL OF RARE DISEASES . 7: 82-82. Nº de citas: 42

    [doi:10.1186/1750-1172-7-82]