Publicacions
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McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Nascimento-Osorio A, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group and ACT DMD Study Group.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Lancet . 390(10101): 1489-1498. Nº de cites: 339
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Bestue-Cardiel M and Natera-de Benito D.
Current status of congenital myasthenic syndromes
REVISTA DE NEUROLOGIA . 65(4): 161-176. Nº de cites: 5
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Rodríguez-García MA, Del Rio-Baquero LM, Ortez-Gonzalez CI, Jou-Munoz C, Vigo-Morancho M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive-Valls M, González-Mera L, Nascimento-Osorio A and Jimenez-Mallebrera C.
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
FRONTIERS IN AGING NEUROSCIENCE . 9: 268-268. Nº de cites: 5
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Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento-Osorio A, Ortez-Gonzalez CI, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho Díaz JA, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C and Sevilla T.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
SCIENTIFIC REPORTS . 7: 6677-6677. Nº de cites: 21
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Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodriguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Cascajo MV, Velasco I, Canals JM, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch-Iriberri R, Navas P and Menéndez P.
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Stem Cells . 35(7): 1687-1703. Nº de cites: 24
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González-Fernández S, Sabra S, Oltra M, Parra-Hernandez JA, Jou-Munoz C, Gonzalez-Bosquet E and Gómez-Roig MD.
Case report of recurrent abdominal wall endometrioma at the same location after nine years of its first excision
Journal of Fertilization: in vitro - IVF - Worldwide, Reproductive Mediicne, Genetics & Stem Cell Biology . 5: 1.
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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 cites: 31
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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 cites: 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 cites: 13
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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 cites: 6