Publication:

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect (2011)

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

      • Date: 11-02-2011
      • Journal: American Journal of Human Genetics
      • Volume: 88
      • Issue: 2
      • Pages: 162-172
      • Publisher: Cell Press
      • Publication type: Article
      • Bibliographic status: Published
      Staff

      Professor Katherine Bushby
      Act. Res.Chair of Neuromuscular Genetics

      Professor Hanns Lochmuller
      Professor of Experimental Myology

      Professor Volker Straub
      Harold Macmillan Professor of Medicine