Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Martorell-Sampol L, Nascimento MT, Colomé-Roura R, Genovés-Escarré J, Naudo-Lahoz M and Nascimento-Osorio A.

    Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

    JOURNAL OF HUMAN GENETICS . 56(1): 87-90. Nº de cites: 4

    [doi:10.1038/jhg.2010.140]

  • Martí R, Nascimento-Osorio A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P and Pineda M.

    Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

    PEDIATRIC RESEARCH . 68(2): 151-154. Nº de cites: 18

    [doi:10.1203/PDR.0b013e3181e33bbe]

  • Raymond F, Métairon S, Kussmann M, Colomer J, Nascimento-Osorio A, Mormeneo E, García-Martínez C and Gómez-Foix AM.

    Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue

    BMC Genomics . 11: 125-125. Nº de cites: 25

    [doi:10.1186/1471-2164-11-125]

  • Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento-Osorio A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P and Timmerman V.

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    BRAIN . 132(Pt 10): 2699-2711. Nº de cites: 117

    [doi:10.1093/brain/awp198]

  • Sanchez-Torrent L, Noguera-Julián A, Pérez-Dueñas B, Nascimento-Osorio A and Colomer J.

    Miller Fisher syndrome in paediatrics: A description of 3 cases

    ANALES DE PEDIATRIA . 71(4): 377-378. Nº de cites: 1

    [doi:10.1016/j.anpedi.2009.07.011]

  • 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: 191

    [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: 38

    [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: 29

    [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: 90

    [doi:10.1002/ana.20746]