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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: beeson d. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Congenital myasthenic syndromes.
Beeson D, Palace J, Vincent A. Beeson D, et al. Curr Opin Neurol. 1997 Oct;10(5):402-7. doi: 10.1097/00019052-199710000-00008. Curr Opin Neurol. 1997. PMID: 9330886 Review.
Myasthenia gravis: diagnostic and management dilemmas.
Palace J, Vincent A, Beeson D. Palace J, et al. Among authors: beeson d. Curr Opin Neurol. 2001 Oct;14(5):583-9. doi: 10.1097/00019052-200110000-00006. Curr Opin Neurol. 2001. PMID: 11562569 Review.
266 results