People / Staff

Andrés Nascimento Osorio

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Publications

  • 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. Number of citations: 114

    [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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 39

    [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. Number of citations: 29

    [doi:10.1016/j.nmd.2006.02.009]