21310273 |
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
Abicht, A,
Dusl, M,
Nilipour, Y,
Straub, V,
Colomer, J,
Laval, SH,
Voit, T,
Kariminejad, A,
Müller, JS,
Steinlein, OK,
Strom, TM,
Maxwell, S,
Mallebrera, CJ,
Palace, J,
Guergueltcheva, V,
Schoser, B,
Krause, S,
Bushby, K,
Sieb, JP,
Lochmüller, H,
Beeson, D,
Oldfors, A,
Senderek, J,
von der Hagen, M,
Bozorgmehr, B,
Muelas, N,
Herrmann, R,
Schlotter, B,
Nascimento, A,
Kirschner, J,
Lindbergh, C,
Vilchez, JJ,
Najmabadi, H,
Hübner, A,
Diepolder, I,
Urtizberea, A,
Nafissi, S,
Cossins, J,
Rodolico, C
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Am J Hum Genet |
2011 |