Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Author:

Senderek Jan,Müller Juliane S.,Dusl Marina,Strom Tim M.,Guergueltcheva Velina,Diepolder Irmgard,Laval Steven H.,Maxwell Susan,Cossins Judy,Krause Sabine,Muelas Nuria,Vilchez Juan J.,Colomer Jaume,Mallebrera Cecilia Jimenez,Nascimento Andres,Nafissi Shahriar,Kariminejad Ariana,Nilipour Yalda,Bozorgmehr Bita,Najmabadi Hossein,Rodolico Carmelo,Sieb Jörn P.,Steinlein Ortrud K.,Schlotter Beate,Schoser Benedikt,Kirschner Janbernd,Herrmann Ralf,Voit Thomas,Oldfors Anders,Lindbergh Christopher,Urtizberea Andoni,von der Hagen Maja,Hübner Angela,Palace Jacqueline,Bushby Kate,Straub Volker,Beeson David,Abicht Angela,Lochmüller Hanns

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. Principles of Neural Science;Kandel,2000

2. The emerging diversity of neuromuscular junction disorders;Newsom-Davis;Acta Myol.,2007

3. What have we learned from the congenital myasthenic syndromes;Engel;J. Mol. Neurosci.,2010

4. To build a synapse: signaling pathways in neuromuscular junction assembly;Wu;Development,2010

5. Familial limb-girdle myasthenia;McQuillen;Brain,1966

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