Results 151 to 160 of about 362,296 (275)
Lysosomal damage is a therapeutic target in Duchenne muscular dystrophy. [PDF]
Sci AdvJaber A, Palmieri L, Bakour R, Bourg N, Hong AV, Lachiver E, Roudaut C, Poupiot J, Albini S, Stockholm D, Van Wittenberghe L, Miranda A, Tanniou G, Danièle N, Barthélémy I, Blot S, Bui MT, Das B, Malfatti E, Evangelista T, Richard I, Israeli D. +21 moreeuropepmc +1 more sourceSingle-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy
Science Translational Medicine, 2017 L. Amoasii, Chengzu Long, Hui Li, A. Mireault, J. Shelton, E. Sánchez-Ortiz, John R. McAnally, Samadrita Bhattacharyya, F. Schmidt, D. Grimm, S. Hauschka, R. Bassel-Duby, E. Olson +12 moresemanticscholar +1 more sourceSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nature Genetics, 2017 N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani, L. Plummer, T. Jones, Serkan Erdin, K. Williamson, J. Rainger, A. Stortchevoi, K. Samocha, Benjamin Currall, D. Dunican, Ryan L. Collins, J. Willer, A. Lek, M. Lek, Malik Nassan, S. Pereira, T. Kammin, D. Lucente, Alexandra Silva, C. Seabra, Colby Chiang, Yu An, Morad Ansari, J. Rainger, S. Joss, Jill Clayton Smith, Margaret F. Lippincott, Sylvia S. Singh, Nirav Patel, Jenny W Jing, J. Law, Nalton Ferraro, A. Verloes, A. Rauch, K. Steindl, M. Zweier, I. Scheer, Daisuke Sato, N. Okamoto, Christina M. Jacobsen, J. Tryggestad, S. Chernausek, L. Schimmenti, Benjamin Brasseur, C. Cesaretti, J. García-Ortiz, Tatiana Pineda Buitrago, Orlando Pérez Silva, J. Hoffman, W. Mühlbauer, K. Ruprecht, B. Loeys, M. Shino, A. Kaindl, Chie-Hee Cho, C. Morton, R. Meehan, V. van Heyningen, E. Liao, Ravikumar Balasubramanian, Janet E. Hall, S. Seminara, D. MacArthur, S. Moore, K. Yoshiura, J. Gusella, J. Marsh, J. Graham, A. Lin, N. Katsanis, P.L. Jones, W. Crowley, Erica E. Davis, D. FitzPatrick, M. Talkowski +77 moresemanticscholar +1 more sourceNeurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations
Developmental Medicine & Child Neurology, 2016 V. Ricotti, W. Mandy, M. Scoto, M. Pane, N. Deconinck, S. Messina, E. Mercuri, D. Skuse, F. Muntoni +8 moresemanticscholar +1 more source