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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: beeson d. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. Neuromuscul Disord. 2023. PMID: 36634413
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.
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: beeson d. 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. 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: beeson d. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23. Brain. 2007. PMID: 17452375
261 results