Publicacions
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Montero-Sanchez R, Artuch-Iriberri R, Briones P, Nascimento-Osorio A, Garcia-Cazorla A, Vilaseca MA, Sánchez-Alcázar JA, Navas P, Montoya J and Pineda M.
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders
BIOFACTORS . 25(1-4): 109-115. Nº de cites: 39
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Ramdas S, Dong YY, Munot P, Natera-de Benito D, Nascimento-Osorio A, Maggi L, Bönnemann CG, McAnally M, Schara-Schmidt U, Della Marina A, Kostera-Pruszczyk A, Milone M, Evoli A, Jungbluth H, Lochmüller H, Beeson D, Reddel S and Palace J.
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
BRAIN . : .
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Pitarch-Castellano I, Ortez-Gonzalez CI, Nascimento-Osorio A, Aguilera López P, Blanco Barca MO, Camacho-Salas A, García-Campos O, García-Jiménez MC, García-Romero M, Gómez-Andrés D, Grimalt-Calatayud MA, Hernández-Fabián A, Málaga-Diéguez I, Madruga-Garrido M, Marti-Carrera I, Martín-Viota L, Martínez-García MJ, Ramos-Fernández JM, Sánchez-Carpintero Abad R, Vázquez-Martín S and Giró-Perafita A.
Delphy study on epidemiology, clinical management, disease burden, and treatment in paediatric patients with Duchenne muscular dystrophy in Spain.
Neurologia . : 502007-502007.
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Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
GENETICS IN MEDICINE . : 102558-102558.
