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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Lookup NU author(s): Dr Juliane Mueller, Dr Steven Laval, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD, Professor Hanns Lochmuller

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Author(s): Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez Mallebrera C, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2011

Volume: 88

Issue: 2

Pages: 162-172

Print publication date: 11/02/2011

Date deposited: 17/03/2011

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2011.01.008

DOI: 10.1016/j.ajhg.2011.01.008

PubMed id: 21310273

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