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Investigació aplicada en malalties neuromusculars

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Publicacions

  • Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento-Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E and ISMAC group.

    Gain and loss of abilities in type II SMA: A 12-month natural history study

    NEUROMUSCULAR DISORDERS . 30(9): 765-771. Nº de cites: 26

    [doi:10.1016/j.nmd.2020.07.004]

  • 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: 45

    [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]

  • Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.

    Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases

    Neurochirurgie . 66(4): 266-269.

    [doi:10.1016/j.neuchi.2020.01.003]

  • Nunes Dias L, Candela-Cantó SA, Jou-Munoz C, Aparicio J, García-García S and Mena-Bernal JH.

    Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature

    CHILDS NERVOUS SYSTEM . 36(7): 1557-1561. Nº de cites: 7

    [doi:10.1007/s00381-019-04496-3]

  • 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: 20

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

  • Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP and Ruiz-Pesini E.

    Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(9): . Nº de cites: 7

    [doi:10.3390/ijms21093374]

  • 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: 31

    [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: 16

    [doi:10.1111/epi.16493]