Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Casado-Rio M, Altimira-Queral L, Montero-Sanchez R, Castejón E, Nascimento-Osorio A, Pérez-Dueñas B, Ormazabal-Herrero A and Artuch-Iriberri R.

    A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

    ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 406(18): 4337-4343. Nº de cites: 11

    [doi:10.1007/s00216-014-7832-6]

  • Kalko SG, Paco-Mercader S, Jou-Munoz C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch-Iriberri R, Montero-Sanchez R, Torner-Rubies F, Nascimento-Osorio A, Ortez-Gonzalez CI, Colomer J and Jimenez-Mallebrera C.

    Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

    BMC Genomics . 15: 91-91. Nº de cites: 110

    [doi:10.1186/1471-2164-15-91]

  • Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento-Osorio A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C and Lochmüller H.

    Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

    JOURNAL OF NEUROLOGY . 261(1): 152-163. Nº de cites: 74

    [doi:10.1007/s00415-013-7154-1]

  • Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Cusi V, Joan R. Corbera Torredeflò, Suñol M, Colomer J and Jimenez-Mallebrera C.

    Late onset infantile Pompe's disease, variability in clinical and histophatological spectrum.

    NEUROMUSCULAR DISORDERS . 23(9-10): 706-737.

  • Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner-Rubies F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez-Gonzalez CI, Nascimento-Osorio A, Colomer J and Jimenez-Mallebrera C.

    Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

    PLoS One . 8(10): . Nº de cites: 21

    [doi:10.1371/journal.pone.0077430]

  • Febrer A, Vigo M, Rodriguez N, Medina J, Colomer J and Nascimento-Osorio A.

    Fractures in spinal muscular atrophy

    REVISTA DE NEUROLOGIA . 57(5): 207-211. Nº de cites: 6

    [doi:10.33588/rn.5705.2013174]

  • Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.

    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion . 13(4): 337-341. Nº de cites: 48

    [doi:10.1016/j.mito.2013.04.001]

  • Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou-Munoz C, Nascimento-Osorio A, Jimenez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M and Gallano P.

    Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

    PLoS One . 8(3): 59916. Nº de cites: 41

    [doi:10.1371/journal.pone.0059916]

  • Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.

    Hypotonia in the neonatal period: 12 years' experience

    REVISTA DE NEUROLOGIA . 56(2): 72-78. Nº de cites: 5

    [doi:10.33588/rn.5602.2012339]

  • Calpena E, Casado-Rio 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: 14

    [doi:10.1007/8904_2012_166]