Publicaciones
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Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento-Osorio A, Ortez-Gonzalez CI, Romero N, Palacios L, Jimenez-Mallebrera C, Jou-Munoz C, Gouveia S and Couce ML.
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
NEUROMUSCULAR DISORDERS . 27(2): 188-192. Nº de citas: 30
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Llano-Diez M, Ortez CI, Gay JA, Alvarez-Cabado L, Jou-Munoz C, Medina J, Nascimento-Osorio A and Jimenez-Mallebrera C.
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy
NEUROMUSCULAR DISORDERS . 27(1): 15-23. Nº de citas: 27
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Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.
A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities
SCIENTIFIC REPORTS . 6: 15-15. Nº de citas: 12
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Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento-Osorio A, Ortez-Gonzalez CI, Jaijo T, Arteaga R, Colomer J and Vilchez JJ.
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
NEUROMUSCULAR DISORDERS . 26(11): 789-795. Nº de citas: 17
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Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.
Neuromuscular Manifestations in Mitochondria! Diseases in Children
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Nº de citas: 6
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Pascual-Pascual SI, Nascimento-Osorio A, Fernandez-Llamazares CM, Medrano-Lopez C, Villalobos-Pinto E, Martinez-Moreno M, Ley M, Manrique-Rodriguez S and Blasco-Alonso J.
Clinical guidelines for infantile-onset Pompe disease
REVISTA DE NEUROLOGIA . 63(6): 269-279. Nº de citas: 9
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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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Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Nascimento-Osorio A, McFarland R, Taylor RW, Holme E and Ostergaard E.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 243-252. Nº de citas: 69
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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