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  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Nº de citas: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento-Osorio A, Conill J and Kalaydjieva L.

    Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

    NEUROMUSCULAR DISORDERS . 16(7): 449-453. Nº de citas: 48

    [doi:10.1016/j.nmd.2006.05.005]

  • Colomer J, Müller JS, Vernet A, Nascimento-Osorio A, Pons-Odena M, Gonzalez V, Abicht A and Lochmüller H.

    Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

    NEUROMUSCULAR DISORDERS . 16(5): 329-333. Nº de citas: 33

    [doi:10.1016/j.nmd.2006.02.009]

  • Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.

    Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

    ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de citas: 92

    [doi:10.1002/ana.20746]

  • Nascimento-Osorio A, Navarro, R, Colomer J, Gómez, F and Sola-Martinez T.

    Síndrome de Moyamoya asociado al síndrome de Down. Hallazgos clínicos y radiológicos

    SD, Revista Medica Internacional sobre el Sindrome de Down . 10(3): 41-45.

  • 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 citas: 39

    [doi:10.1002/biof.5520250112]

  • Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloglu G, Jou-Munoz C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F and Bönnemann CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

    BRAIN . : .

    [doi:10.1093/brain/awaf116]