EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. by Kyriakides, T, Angelini, C, Schaefer, J, Sacconi, S, Siciliano, G, Vilchez, J, Hilton-Jones, D

Diagnostic Approach to Pauci-or Asymptomatic hyperCKemia by Kyriakides, T, Angelini, C, Schaefer, J, Sacconi, S, Siciliano, G, Vilchez, J, Hilton-Jones, D

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. by Müller, J, Herczegfalvi, A, Vilchez, J, Colomer, J, Bachinski, L, Mihaylova, V, Santos, M, Schara, U, Deschauer, M, Shevell, M, Poulin, C, Dias, A, Soudo, A, Hietala, M, Aärimaa, T, Krahe, R, Karcagi, V, Huebner, A, Beeson, D, Abicht, A, Lochmüller, H

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

SIGNALS: I. Survey description by Rousseau-Nepton, L, Martin, R, Robert, C, Drissen, L, Amram, P, Prunet, S, Martin, T, Moumen, I, Adamo, A, Alarie, A, Barmby, P, Boselli, A, Bresolin, F, Bureau, M, Chemin, L, Fernandes, R, Combes, F, Crowder, C, Della Bruna, L, Duarte Puertas, S, Egusa, F, Epinat, B, Ksoll, V, Girard, M, Gómez Llanos, V, Gouliermis, D, Grasha, K, Higgs, C, Hlavacek-Larrondo, J, Ho, I, Iglesias-Páramo, J, Joncas, G, Kam, Z, Karera, P, Kennicutt, R, Klessen, R, Lianou, S, Liu, L, Liu, Q, De Amorim, A, Lyman, J, Martel, H, Mazzilli-Ciraulo, B, McLeod, A, Melchior, A, Millan, I, Mollá, M, Momose, R, Morisset, C, Pan, H, Pati, A, Pellerin, A, Pellegrini, E, Pérez, I, Petric, A, Plana, H, Rahner, D, Ruiz Lara, T, Sánchez-Menguiano, L, Spekkens, K, Stasińska, G, Takamiya, M, Vale Asari, N, Vílchez, J