Persones / Equip Humà

Andrés Nascimento Osorio

Buscador de publicacions

Publicacions

  • Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Nascimento-Osorio A, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E and ISMAC Grp Collaborators.

    Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

    NEUROMUSCULAR DISORDERS . 30(9): 756-764. Nº de cites: 30

    [doi:10.1016/j.nmd.2020.07.005]

  • Alonso-Pérez, J, González-Quereda, L, Bello, L, Guglieri, M, Straub, V, Gallano, P, Semplicini, C, Pegoraro, E, Zangaro, V, Nascimento-Osorio A, Ortez-Gonzalez CI, Comi, GP, ten Dam, L, De Visser, M, van der Kooi, AJ, Garrido, C, Santos, M, Schara, U, Gangfuss, A, Lokken, N, Storgaard, GH, Vissing, J, Schoser, B, Dekomien, G, Udd, B, Palmio, J, D'Amico, A, Politano, L, Nigro, V, Bruno, C, Panicucci, C, Sarkozy, A, Abdel-Mannan, O, Alonsolimenez, A, Claeys, KG, Gomez-Andrés, D, Munell, F, Costa-Comellas, L, Haberlová, J, Rohlenová, M, Elke, D, De Bleecker, JL, Dominguez-González, C, Tasca, G, Weiss, C, Deconinck, N, Fernández-Torrón, R, Lopez de Munain, Adolfo, Camacho-Salas, A, Melegh, B, Hadzsiev, K, Leonardis, L, Koritnik, B, Garibaldi, M, De Leon-Hernández, JC, Malfatti, E, Fraga-Bau, A, Richard, I, Illa, I and Díaz-Manera, J.

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    BRAIN . 143: 2696-2708. Nº de cites: 50

    [doi:10.1093/brain/awaa228]

  • Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.

    Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

    NEUROMUSCULAR DISORDERS . 30(9): 719-726. Nº de cites: 3

    [doi:10.1016/j.nmd.2020.07.009]

  • Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    SCIENTIFIC REPORTS . 10(1): 10111-10111. Nº de cites: 21

    [doi:10.1038/s41598-020-66940-8]

  • Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento-Osorio A, Ortez-Gonzalez CI, Benito DN, Olive-Valls M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M and Gallano P.

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    GENES . 11(5): . Nº de cites: 34

    [doi:10.3390/genes11050539]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    Epilepsia . 61(5): 971-983. Nº de cites: 17

    [doi:10.1111/epi.16493]

  • Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

    FRONTIERS IN NEUROLOGY . 11: 304-304. Nº de cites: 14

    [doi:10.3389/fneur.2020.00304]

  • 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. Nº de cites: 75

    [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. Nº de cites: 44

    [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. Nº de cites: 15

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