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

Autor: 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, CI, Nascimento, 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, Smith, E, Ataluren Phase 2b Study Grp

Publikováno v: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148
https://doi.org/10.1212/wnl.0000000000006245

Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial

Autor: Hughes, R. Dalakas, M.C. Merkies, I. Latov, N. Léger, J.-M. Nobile-Orazio, E. Sobue, G. Genge, A. Cornblath, D. Merschhemke, M. Ervin, C.M. Agoropoulou, C. Hartung, H.-P. Day, T. Spies, J. Roberts, L. Van Damme, P. Van den Bergh, P.Y. Maertens de Noordhout, A. Dionne, A. Larue, S. Massie, R. Melanson, M. Camu, W. De Seze, J. Le Masson, G. Pouget, J. Schmidt, J. Kimiskidis, V.K. Chapman, J. Drory, V.E. Fazio, R. Gallia, F. Kusunoki, S. Mori, M. Iijima, M. Okamoto, T. Baba, M. Faber, C.G. van Schaik, I.N. Fryze, W. Motta, E. Selmaj, K. Casasnovas, C. Sola, A.G. Illa, I. Holt, J. Miller, J.A. Lunn, M.P. Brannagan, T.H., III Brown, M. Kelemen, J. Iyadurai, S. Rezania, K. Sharma, K.R. Tandan, R. Gudesblatt, M. Lawson, V. Amato, A.A. FORCIDP Trial Investigators

Background: Fingolimod is approved for the treatment of relapsing-remitting multiple sclerosis and was effective in experimental autoimmune neuritis in rats, a possible model for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We ai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::8ffe3ebb22a59b132cd233fb9dcc7c15
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3123149

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P.263 - A randomized, double-blinded, placebo-controlled, multiple ascending dose study to evaluate the safety, tolerability, pharmacokinetics, immunogenicity, and biological activity of ATYR1940 in adult patients with facioscapulohumeral muscular dystrophy (FSHD)

Autor: Gershman, A., Chiang, K., Do, M., Abbink, E., Harbers, V., Audebert, C., Campana-Salort, E., Monforte, M., Iyadurai, S., Carey, L., Heskamp, L., Kan, H., Heerschap, A., Kissel, J., Ricci, E., Attarian, S., Blackburn, K., Mendlein, J., Ashlock, M.

Publikováno v: In Neuromuscular Disorders October 2016 26 Supplement 2:S167-S167