Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento-Osorio A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G and Estournet B.

    De novo LMNA mutations cause a new form of congenital muscular dystrophy

    ANNALS OF NEUROLOGY . 64(2): 177-186. Nº de cites: 217

    [doi:10.1002/ana.21417]

  • 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 cites: 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 cites: 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 cites: 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 cites: 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 cites: 39

    [doi:10.1002/biof.5520250112]

  • Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.

    Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

    Journal of neuromuscular diseases . : .

    [doi:10.1177/22143602251361190]