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2004 7
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Page 1
The congenital myasthenic syndromes.
Palace J, Beeson D. Palace J, et al. J Neuroimmunol. 2008 Sep 15;201-202:2-5. doi: 10.1016/j.jneuroim.2008.05.030. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18708269 Review.
Myasthenia gravis seronegative for acetylcholine receptor antibodies.
Vincent A, Leite MI, Farrugia ME, Jacob S, Viegas S, Shiraishi H, Benveniste O, Morgan BP, Hilton-Jones D, Newsom-Davis J, Beeson D, Willcox N. Vincent A, et al. Ann N Y Acad Sci. 2008;1132:84-92. doi: 10.1196/annals.1405.020. Ann N Y Acad Sci. 2008. PMID: 18567857
Distinct phenotypes of congenital acetylcholine receptor deficiency.
Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, Newsom-Davis J, Palace J, Beeson D. Burke G, et al. Neuromuscul Disord. 2004 Jun;14(6):356-64. doi: 10.1016/j.nmd.2004.03.005. Neuromuscul Disord. 2004. PMID: 15145336 Clinical Trial.
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y. Beeson D, et al. Science. 2006 Sep 29;313(5795):1975-8. doi: 10.1126/science.1130837. Epub 2006 Aug 17. Science. 2006. PMID: 16917026
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Müller JS, et al. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
33 results