Burke G - Search Results

1

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. Neurology. 2003 Sep 23;61(6):826-8. doi: 10.1212/01.wnl.0000085865.55513.ae. Neurology. 2003. PMID: 14504330

2

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J, Burke G, Maxwell S, Spearman H, Man S, Kuks J, Vincent A, Palace J, Fuhrer C, Beeson D. Cossins J, et al. Among authors: burke g. Brain. 2006 Oct;129(Pt 10):2773-83. doi: 10.1093/brain/awl219. Epub 2006 Aug 31. Brain. 2006. PMID: 16945936 Free article.

3

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: burke g. 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.

4

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

5

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. Cossins J, et al. Among authors: burke g. Hum Mol Genet. 2004 Dec 1;13(23):2947-57. doi: 10.1093/hmg/ddh320. Epub 2004 Oct 7. Hum Mol Genet. 2004. PMID: 15471888

6

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: burke g. Science. 2006 Sep 29;313(5795):1975-8. doi: 10.1126/science.1130837. Epub 2006 Aug 17. Science. 2006. PMID: 16917026

7

A treatable muscle disease.

Burke G, Allen D, Arunachalam R, Beeson D, Hammans S. Burke G, et al. Pract Neurol. 2009 Aug;9(4):233-6. doi: 10.1136/jnnp.2009.181966. Pract Neurol. 2009. PMID: 19608775 No abstract available.

8

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: burke g. 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.

9

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Burke G, Hiscock A, Klein A, Niks EH, Main M, Manzur AY, Ng J, de Vile C, Muntoni F, Beeson D, Robb S. Burke G, et al. Neuromuscul Disord. 2013 Feb;23(2):170-5. doi: 10.1016/j.nmd.2012.11.004. Epub 2012 Dec 5. Neuromuscul Disord. 2013. PMID: 23219351 Free article.

10

SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature.

Ramdas S, Hum RM, Price A, Paul A, Bland J, Burke G, Farrugia M, Palace J, Storrie A, Ho P, Standing E, Lilleker JB, Jungbluth H. Ramdas S, et al. Among authors: burke g. Neuromuscul Disord. 2022 Oct;32(10):785-789. doi: 10.1016/j.nmd.2022.09.001. Epub 2022 Sep 5. Neuromuscul Disord. 2022. PMID: 36130855 Free PMC article. Review.

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