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  • Vázquez-Costa JF, Povedano M, Nascimento-Osorio A, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D.

    Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study

    EUROPEAN JOURNAL OF NEUROLOGY . 29(11): 3337-3346. Nº de citas: 22

    [doi:10.1111/ene.15501]

  • Madruga-Garrido M, Vázquez-Costa JF, Medina J, Brañas M, Cattinari MG, de Lemus M, Díaz-Abós P, Sánchez-Menéndez V, Terrancle Á, Rebollo P and Maurino J.

    Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)

    Neurology and Therapy . 10(1): 361-373. Nº de citas: 11

    [doi:10.1007/s40120-020-00229-w]

  • Medina J, Obdulia Moya Arcos, NÚRIA PADRÓS DOMINGO, Roca-Urraca S, Vigo-Morancho M and Mas S.

    Spanish translation and linguistic validation of the North Star Ambulatory Assessment for Duchenne muscular dystrophy functional evaluation

    REVISTA DE NEUROLOGIA . 72(10): 337-342. Nº de citas: 1

    [doi:10.33588/rn.7210.2020604]

  • Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Exposito-Escudero JM, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.

    Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

    Neurology . 96(10): 1413-1424. Nº de citas: 14

    [doi:10.1212/WNL.0000000000011499]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.

    Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de citas: 14

    [doi:10.1016/j.ejpn.2021.02.009]

  • 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 citas: 3

    [doi:10.1016/j.nmd.2020.07.009]

  • 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 citas: 14

    [doi:10.3389/fneur.2020.00304]

  • 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. Nº de citas: 15

    [doi:10.1016/j.nmd.2019.04.003]

  • Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer J, Ortez-Gonzalez CI, Nascimento-Osorio A, Febrer A, Medina J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe,, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L and Smith, E.

    The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

    Neurology . 91(13): 1215-1219. Nº de citas: 10

    [doi:10.1212/WNL.0000000000006245]

  • Rodríguez-García MA, Del Rio-Baquero LM, Ortez-Gonzalez CI, Jou-Munoz C, Vigo-Morancho M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive-Valls M, González-Mera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

    FRONTIERS IN AGING NEUROSCIENCE . 9: 268-268. Nº de citas: 5

    [doi:10.3389/fnagi.2017.00268]