Personas / Equipo Humano

Cristina Jou Muñoz

Buscador de publicaciones

Publicaciones

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de citas: 20

    [doi:10.3389/fgene.2015.00102]

  • Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Nº de citas: 34

    [doi:10.1186/s13023-014-0217-2]

  • Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.

    Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC PEDIATRICS . 14: 284-284. Nº de citas: 15

    [doi:10.1186/s12887-014-0284-5]

  • 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]