gene mutations in steroid-responsive limb girdle muscular dystrophy by Godfrey, C, Escolar, D, Brockington, M, Clement, E, Mein, R, Jimenez-Mallebrera, C, Torelli, S, Feng, L, Brown, S, Sewry, C, Rutherford, M, Shapira, Y, Abbs, S, Muntoni, F

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant by Clement, E, Godfrey, C, Tan, J, Brockington, M, Torelli, S, Feng, L, Brown, S, Jimenez-Mallebrera, C, Sewry, C, Longman, C, Mein, R, Abbs, S, Vajsar, J, Schachter, H, Muntoni, F

Congenital myasthenic syndromes in childhood: diagnostic and management challenges. by Kinali, M, Beeson, D, Pitt, M, Jungbluth, H, Simonds, A, Aloysius, A, Cockerill, H, Davis, T, Palace, J, Manzur, A, Jimenez-Mallebrera, C, Sewry, C, Muntoni, F, Robb, SA

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Seve... by Jimenez-Mallebrera, C, Torelli, S, Feng, L, Kim, J, Godfrey, C, Clement, E, Mein, R, Abbs, S, Brown, S, Campbell, K, Kröger, S, Talim, B, Topaloglu, H, Quinlivan, R, Roper, H, Childs, A, Kinali, M, Sewry, C, Muntoni, F

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan by Godfrey, C, Clement, E, Mein, R, Brockington, M, Smith, J, Talim, B, Straub, V, Robb, S, Quinlivan, R, Feng, L, Jimenez-Mallebrera, C, Mercuri, E, Manzur, A, Kinali, M, Torelli, S, Brown, S, Sewry, C, Bushby, K, Topaloglu, H, North, K, Abbs, S, Muntoni, F

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

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Thompson, K, Mai, N, Oláhová, M, Scialó, F, Formosa, LE, Stroud, DA, Garrett, M, Lax, NZ, Robertson, FM, Jou, C, Nascimento, A, Ortez, C, Jimenez‐Mallebrera, C, Hardy, SA, He, L, Brown, GK, Marttinen, P, McFarland, R, Sanz, A, Battersby, BJ, Bonnen, PE, Ryan, MT, Chrzanowska‐Lightowlers, ZM, Lightowlers, RN