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