hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect jan senderek,...

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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H. Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J. Vilchez, Jaume Colomer, Cecilia Jimenez Mallebrera, Andres Nascimento, Shahriar Nafissi, Ariana Kariminejad, Yalda Nilipour, Bita Bozorgmehr, Hossein Najmabadi, Carmelo Rodolico, Jörn P. Sieb, Ortrud K. Steinlein, Beate Schlotter, Benedikt Schoser, Janbernd Kirschner, Ralf Herrmann, Thomas Voit, Anders Oldfors, Christopher Lindbergh, Andoni Urtizberea, Maja von der Hagen, Angela Hübner, Jacqueline Palace, Kate Bushby, Volker Straub, David Beeson, Angela Abicht, Hanns Lochmüller The American Journal of Human Genetics Volume 88, Issue 2, Pages 162-172 (February 2011) DOI: 10.1016/j.ajhg.2011.01.008 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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Page 1: Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect 

Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H. Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J. Vilchez, Jaume Colomer, Cecilia Jimenez Mallebrera, Andres

Nascimento, Shahriar Nafissi, Ariana Kariminejad, Yalda Nilipour, Bita Bozorgmehr, Hossein Najmabadi, Carmelo Rodolico, Jörn P. Sieb, Ortrud K. Steinlein, Beate Schlotter, Benedikt Schoser, Janbernd Kirschner, Ralf Herrmann, Thomas Voit, Anders Oldfors,

Christopher Lindbergh, Andoni Urtizberea, Maja von der Hagen, Angela Hübner, Jacqueline Palace, Kate Bushby, Volker Straub, David Beeson, Angela Abicht, Hanns Lochmüller 

The American Journal of Human Genetics Volume 88, Issue 2, Pages 162-172 (February 2011)

DOI: 10.1016/j.ajhg.2011.01.008

Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 2: Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,

Figure 1

The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 3: Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,

Figure 2

The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Page 4: Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva,

Figure 3

The American Journal of Human Genetics 2011 88, 162-172DOI: (10.1016/j.ajhg.2011.01.008) Copyright © 2011 The American Society of Human Genetics Terms and Conditions