Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Manzur, Ay"'
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
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
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
https://doi.org/10.1212/wnl.0000000000006245
Autor:
Ricotti, V, Ridout, Da, Pane, Marika, Main, M, Mayhew, A, Mercuri, Eugenio Maria, Manzur, Ay, Muntoni, F, Robb, S, Quinlivan, R, Sarkozy, A, Butler, J, Bushby, K, Straub, V, Guglieri, M, Eagle, M, Roper, H, Mcmurchie, H, Childs, A, Pysden, K, Pallant, L, Spinty, S, Peachey, G, Shillington, A, Wraige, E, Jungbluth, H, Sheehan, J, Spahr, R, Hughes, I, Bateman, E, Cammiss, C, Willis, T, Groves, L, Emery, N, Baxter, P, Senior, M, Scott, E, Hartley, L, Parsons, B, Majumdar, A, Jenkins, L, Toms, B, Naismith, K, Keddie, A, Horrocks, I, Di Marco, M, Chow, G, Miah, A, de Goede, C, Thomas, N, Geary, M, Palmer, J, White, C, Greenfield, K, Wilson, I, Messina, S, Berardinelli, A, Comi, G, D'Amico, A, Bertini, E, Bruno, C, Politano, L, Battini, R, Pegoraro, E, Pini, A, Mongini, T, Morandi, L
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Objective: With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials. The aims of this study were to assess the effects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::279451be89090c19097444f46fb1552c
http://europepmc.org/articles/PMC4752678
http://europepmc.org/articles/PMC4752678
Autor:
Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, Houlden, H
Publikováno v:
Brain : a journal of neurology. 137(Pt 1)
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5b801dd7ce737bab556498e86a7831f7
https://pubmed.ncbi.nlm.nih.gov/24424912
https://pubmed.ncbi.nlm.nih.gov/24424912
