Cossins J - Search Results

1

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: cossins j. 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.

2

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D. Burke G, et al. Among authors: cossins j. Neurology. 2003 Sep 23;61(6):826-8. doi: 10.1212/01.wnl.0000085865.55513.ae. Neurology. 2003. PMID: 14504330

3

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: cossins j. Neuromuscul Disord. 2004 Jun;14(6):356-64. doi: 10.1016/j.nmd.2004.03.005. Neuromuscul Disord. 2004. PMID: 15145336 Clinical Trial.

4

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. Among authors: cossins j. Ann N Y Acad Sci. 2008;1132:99-103. doi: 10.1196/annals.1405.049. Ann N Y Acad Sci. 2008. PMID: 18567858

5

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. Cossins J, et al. Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1. Hum Mol Genet. 2012. PMID: 22661499

6

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D. Belaya K, et al. Among authors: cossins j. Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27. Am J Hum Genet. 2012. PMID: 22742743 Free PMC article.

7

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Belaya K, Finlayson S, Cossins J, Liu WW, Maxwell S, Palace J, Beeson D. Belaya K, et al. Among authors: cossins j. Ann N Y Acad Sci. 2012 Dec;1275:29-35. doi: 10.1111/j.1749-6632.2012.06790.x. Ann N Y Acad Sci. 2012. PMID: 23278575 Free PMC article.

8

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.

9

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D. Finlayson S, et al. Among authors: cossins j. J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27. J Neurol Neurosurg Psychiatry. 2013. PMID: 23447650 Free PMC article.

10

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Zoltowska K, Webster R, Finlayson S, Maxwell S, Cossins J, Müller J, Lochmüller H, Beeson D. Zoltowska K, et al. Among authors: cossins j. Hum Mol Genet. 2013 Jul 15;22(14):2905-13. doi: 10.1093/hmg/ddt145. Epub 2013 Apr 8. Hum Mol Genet. 2013. PMID: 23569079

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