Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. by Schoser, B, Jacob, S, Hilton-Jones, D, Müller-Felber, W, Kubisch, C, Claus, D, Goebel, H, Vita, G, Vincent, A, Toscano, A, Van den Bergh, P

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

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation by Sarkozy, A, Hicks, D, Hudson, J, Laval, S, Barresi, R, Hilton-Jones, D, Deschauer, M, Harris, E, Rufibach, L, Hwang, E, Bashir, R, Walter, M, Krause, S, van den Bergh, P, Illa, I, Pénisson-Besnier, I, De Waele, L, Turnbull, D, Guglieri, M, Schrank, B, Schoser, B, Seeger, J, Schreiber, H, Gläser, D, Eagle, M

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. by Sarkozy, A, Hicks, D, Hudson, J, Laval, S, Barresi, R, Hilton-Jones, D, Deschauer, M, Harris, E, Rufibach, L, Hwang, E, Bashir, R, Walter, M, Krause, S, van den Bergh, P, Illa, I, Pénisson-Besnier, I, De Waele, L, Turnbull, D, Guglieri, M, Schrank, B, Schoser, B, Seeger, J, Schreiber, H, Gläser, D, Eagle, M