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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. Among authors: maxwell s. Neuromuscul Disord. 2004 Jun;14(6):356-64. doi: 10.1016/j.nmd.2004.03.005. Neuromuscul Disord. 2004. PMID: 15145336 Clinical Trial.
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. Among authors: maxwell s. Science. 2006 Sep 29;313(5795):1975-8. doi: 10.1126/science.1130837. Epub 2006 Aug 17. Science. 2006. PMID: 16917026
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D. Palace J, et al. Among authors: maxwell s. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23. Brain. 2007. PMID: 17452375
845 results