Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A and Lochmüller H.

    Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

    AMERICAN JOURNAL OF HUMAN GENETICS . 88(2): 162-172. Nº de cites: 129

    [doi:10.1016/j.ajhg.2011.01.008]

  • 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: 5

    [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: 22

    [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: 28

    [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: 2699-2711. Nº de cites: 142

    [doi:10.1093/brain/awp198]

  • 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]