Buscador de publicacions

Publicacions

  • Paco-Mercader S, Ferrer I, Jou-Munoz C, Cusi V, Corbera J, Torner-Rubies F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-kappa B Signaling

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Nº de cites: 18

    [doi:10.1097/NEN.0b013e31826c6f7b]

  • Calpena E, Casado M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

    Jimd Reports . 7: 123-128. Nº de cites: 9

    [doi:10.1007/8904_2012_166]

  • Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A and Lochmüller H.

    Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

    JOURNAL OF NEUROLOGY . 259(5): 838-850. Nº de cites: 55

    [doi:10.1007/s00415-011-6262-z]

  • Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento-Osorio A, Vilchez JJ, Muelas N, Argov Z, Abicht A and Lochmüller H.

    A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

    JOURNAL OF NEUROLOGY . 259(3): 474-481. Nº de cites: 40

    [doi:10.1007/s00415-011-6204-9]

  • Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.

    Perfil de expresión génica en la distrofia muscular congénita de Ullrich

    REVISTA DE NEUROLOGIA . 2012(27): 155-312.

  • Mormeneo E, Jimenez-Mallebrera C, Palomer X, De Nigris V, Vázquez-Carrera M, Orozco A, Nascimento-Osorio A, Colomer J, Lerin-Martinez C and Gómez-Foix AM.

    PGC-1 alpha Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells

    PLoS One . 7(1): . Nº de cites: 37

    [doi:10.1371/journal.pone.0029985]

  • 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: 102

    [doi:10.1016/j.ajhg.2011.01.008]

  • Martorell-Sampol L, Nascimento MT, Colomé-Roura R, Genovés-Escarre 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: 3

    [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: 17

    [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: 21

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