Publicaciones
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Figueras-Nart I, Vicente-Villa MA, Sánchez-Schmidt J, Jou-Munoz C, Bordas-Orpinell X, Celis-Passini VP, Cruz-Martínez O and González-Enseñat MA.
Langerhans cell histiocytosis presenting as fingernail changes.
JAAD case reports . 2(6): 485-487.
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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 Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion . 30: 51-58. Nº de citas: 52
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De Paepe B, Martin JJ, Herbelet S, Jimenez-Mallebrera C, Iglesias-Jimenez E, Jou-Munoz C, Weis J and De Bleecker JL.
Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism
LABORATORY INVESTIGATION . 96(8): 872-884. Nº de citas: 12
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Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
METABOLIC BRAIN DISEASE . 31(3): 705-709. Nº de citas: 7
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Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.
Ndufs4 related Leigh syndrome: A case report and review of the literature
Mitochondrion . 28: 73-78. Nº de citas: 46
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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. Nº de citas: 29
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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): . Nº de citas: 127
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Melé-Ninot, G., Vicente-Villa MA, Jou-Munoz C, González V and González-Enseñat MA.
Panniculitis secondary to treatment with interferon beta in patients with multiple sclerosis. A case report and literature review
Piel . 31(10): 680-684.
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Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Mitochondrion . 26: 72-80. Nº de citas: 19
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Mariño-Sánchez, F., Lopez-Chacon, M., Jou-Munoz C and Haag, O..
Pediatric intranasal lobular capillary hemangioma: Report of two new cases and review of the literature
Respiratory Medicine Case Reports . 18: 31-34. Nº de citas: 7