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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Lookup NU author(s): Dr Nuria Muelas Gomez, Professor Michael Hanna, Dr Amina Chaouch, Professor Volker Straub, Professor Katherine Bushby, Professor Hanns Lochmuller


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Author(s): Guergueltcheva V, Muller J, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera C, Nascimento A, Vilchez J, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb J, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein O, Najafi A, Urtizberea A, Soler D, Muntoni F, Hanna M, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmuller H

Publication type: Article

Journal: Journal of Neurology

Year: 2012

Volume: 259

Issue: 5

Pages: 838-850

Print publication date: 06/10/2011

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer


DOI: 10.1007/s00415-011-6262-z


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