Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. by Senderek, J, Müller, J, Dusl, M, Strom, T, Guergueltcheva, V, Diepolder, I, Laval, S, Maxwell, S, Cossins, J, Krause, S, Muelas, N, Vilchez, J, Colomer, J, Mallebrera, C, Nascimento, A, Nafissi, S, Kariminejad, A, Nilipour, Y, Bozorgmehr, B, Najmabadi, H, Rodolico, C, Sieb, J, Steinlein, O, Schlotter, B, Schoser, B

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. by Guergueltcheva, V, Müller, J, Dusl, M, Senderek, J, Oldfors, A, Lindbergh, C, Maxwell, S, Colomer, J, Mallebrera, C, Nascimento, A, Vilchez, J, Muelas, N, Kirschner, J, Nafissi, S, Kariminejad, A, Nilipour, Y, Bozorgmehr, B, Najmabadi, H, Rodolico, C, Sieb, J, Schlotter, B, Schoser, B, Herrmann, R, Voit, T, Steinlein, O

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations by Guergueltcheva, V, Müller, J, Dusl, M, Senderek, J, Oldfors, A, Lindbergh, C, Maxwell, S, Colomer, J, Mallebrera, C, Nascimento, A, Vilchez, J, Muelas, N, Kirschner, J, Nafissi, S, Kariminejad, A, Nilipour, Y, Bozorgmehr, B, Najmabadi, H, Rodolico, C, Sieb, J, Schlotter, B, Schoser, B, Herrmann, R, Voit, T, Steinlein, O

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. by Lamont, P, Wallefeld, W, Hilton-Jones, D, Udd, B, Argov, Z, Barboi, A, Bonneman, C, Boycott, K, Bushby, K, Connolly, A, Davies, N, Beggs, A, Cox, G, Dastgir, J, DeChene, E, Gooding, R, Jungbluth, H, Muelas, N, Palmio, J, Penttilä, S, Schmedding, E, Suominen, T, Straub, V, Staples, C, Van den Bergh, P