Publicaciones
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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
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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
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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
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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
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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.
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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
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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.
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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
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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
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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