Beeson D - Search Results

1

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H. Thompson R, et al. Among authors: beeson d. Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7. Orphanet J Rare Dis. 2018. PMID: 30477555 Free PMC article.

2

Genes at the junction--candidates for congenital myasthenic syndromes.

Vincent A, Newland C, Croxen R, Beeson D. Vincent A, et al. Among authors: beeson d. Trends Neurosci. 1997 Jan;20(1):15-22. doi: 10.1016/S0166-2236(96)10066-7. Trends Neurosci. 1997. PMID: 9004414 Review.

3

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, Lochmüller H. Müller JS, et al. Among authors: beeson d. J Med Genet. 2004 Aug;41(8):e104. doi: 10.1136/jmg.2004.021139. J Med Genet. 2004. PMID: 15286164 Free PMC article. No abstract available.

4

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. Among authors: beeson d. 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.

5

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D, Hantaï D, Lochmüller H, Engel AG. Beeson D, et al. Neuromuscul Disord. 2005 Jul;15(7):498-512. doi: 10.1016/j.nmd.2005.05.001. Neuromuscul Disord. 2005. PMID: 15951177 No abstract available.

6

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A. Müller JS, et al. Among authors: beeson d. Brain. 2006 Oct;129(Pt 10):2784-93. doi: 10.1093/brain/awl188. Epub 2006 Aug 17. Brain. 2006. PMID: 16916845

7

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

8

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. Among authors: beeson d. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981

9

An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.

Giraud M, Taubert R, Vandiedonck C, Ke X, Lévi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ. Giraud M, et al. Among authors: beeson d. Nature. 2007 Aug 23;448(7156):934-7. doi: 10.1038/nature06066. Epub 2007 Aug 8. Nature. 2007. PMID: 17687331

10

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Beeson D, Webster R, Cossins J, Lashley D, Spearman H, Maxwell S, Slater CR, Newsom-Davis J, Palace J, Vincent A. Beeson D, et al. Ann N Y Acad Sci. 2008;1132:99-103. doi: 10.1196/annals.1405.049. Ann N Y Acad Sci. 2008. PMID: 18567858

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