Cossins J - Search Results

1

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

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

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.

5

Passive and active immunization models of MuSK-Ab positive myasthenia: electrophysiological evidence for pre and postsynaptic defects.

Viegas S, Jacobson L, Waters P, Cossins J, Jacob S, Leite MI, Webster R, Vincent A. Viegas S, et al. Among authors: cossins j. Exp Neurol. 2012 Apr;234(2):506-12. doi: 10.1016/j.expneurol.2012.01.025. Epub 2012 Feb 3. Exp Neurol. 2012. PMID: 22326541 Free article.

6

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

7

Presence and pathogenic relevance of antibodies to clustered acetylcholine receptor in ocular and generalized myasthenia gravis.

Jacob S, Viegas S, Leite MI, Webster R, Cossins J, Kennett R, Hilton-Jones D, Morgan BP, Vincent A. Jacob S, et al. Among authors: cossins j. Arch Neurol. 2012 Aug;69(8):994-1001. doi: 10.1001/archneurol.2012.437. Arch Neurol. 2012. PMID: 22689047

8

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.

9

Antibodies identified by cell-based assays in myasthenia gravis and associated diseases.

Vincent A, Waters P, Leite MI, Jacobson L, Koneczny I, Cossins J, Beeson D. Vincent A, et al. Among authors: cossins j. Ann N Y Acad Sci. 2012 Dec;1274:92-8. doi: 10.1111/j.1749-6632.2012.06789.x. Ann N Y Acad Sci. 2012. PMID: 23252902

10

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.

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