People / Staff

Andrés Nascimento Osorio

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Publications

  • Mercuri E, Muntoni F, Nascimento-Osorio A, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE and CINRG Duchenne Natural History Investigators.

    Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

    JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 9(5): 341-360. Number of citations: 59

    [doi:10.2217/cer-2019-0171]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 32

    [doi:10.1002/jimd.12156]

  • Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.

    Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

    SCIENTIFIC REPORTS . 9: 14036-14036. Number of citations: 8

    [doi:10.1038/s41598-019-50415-6]

  • Muntoni F, Desguerre I, Guglieri M, Nascimento-Osorio A, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL and Mercuri E.

    Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

    JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 8(14): 1187-1200. Number of citations: 21

    [doi:10.2217/cer-2019-0086]

  • Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento-Osorio A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M and Díaz-Manera J.

    Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

    MOLECULAR GENETICS AND METABOLISM . 128(1-2): 129-136. Number of citations: 5

    [doi:10.1016/j.ymgme.2019.07.013]

  • Carrera-García L, Natera-de Benito D, Lleixà C, Ortez-Gonzalez CI, Colomer J, Nascimento-Osorio A, Saiz A, Dalmau J, Querol L and Armangue-Salvador T.

    Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 6(5): . Number of citations: 8

    [doi:10.1212/NXI.0000000000000602]

  • Nascimento-Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M and Vilchez-Padilla JJ.

    Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.

    NEUROLOGIA . 34(7): 469-481. Number of citations: 9

    [doi:10.1016/j.nrl.2018.01.001]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Number of citations: 9

    [doi:10.1038/s41598-019-48385-w]

  • Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento-Osorio A, Kalko SG, Sardina MD, Del Vayo CÁ, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C and Hirano M.

    Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

    ANNALS OF NEUROLOGY . 86(2): 293-303. Number of citations: 56

    [doi:10.1002/ana.25506]

  • Frongia AL, Natera-de Benito D, Ortez-Gonzalez CI, Alarcón M, Borrás A, Medina J, Vigo-Morancho M, Padrós N, Moya O, Armas J, Carrera-García L, Exposito-Escudero JM, Cuadras-Palleja D, Bernal S, Martorell-Sampol L, Colomer J and Nascimento-Osorio A.

    Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

    NEUROMUSCULAR DISORDERS . 29(7): 517-524. Number of citations: 11

    [doi:10.1016/j.nmd.2019.04.003]