Croxen R - Search Results

1

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

Croxen R, Newland C, Betty M, Vincent A, Newsom-Davis J, Beeson D. Croxen R, et al. Ann Neurol. 1999 Oct;46(4):639-47. doi: 10.1002/1531-8249(199910)46:4<639::aid-ana13>3.0.co;2-1. Ann Neurol. 1999. PMID: 10514102

2

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.

Croxen R, Vincent A, Newsom-Davis J, Beeson D. Croxen R, et al. Neurology. 2002 May 28;58(10):1563-5. doi: 10.1212/wnl.58.10.1563. Neurology. 2002. PMID: 12034803

3

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

Beeson D, Webster R, Ealing J, Croxen R, Brownlow S, Brydson M, Newsom-Davis J, Slater C, Hatton C, Shelley C, Colquhoun D, Vincent A. Beeson D, et al. Among authors: croxen r. Ann N Y Acad Sci. 2003 Sep;998:114-24. doi: 10.1196/annals.1254.013. Ann N Y Acad Sci. 2003. PMID: 14592868

4

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

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

5

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J. Croxen R, et al. Hum Mol Genet. 1997 May;6(5):767-74. doi: 10.1093/hmg/6.5.767. Hum Mol Genet. 1997. PMID: 9158151

6

Congenital myasthenic syndromes. Studies of the AChR and other candidate genes.

Beeson D, Newland C, Croxen R, Buckel A, Li FY, Larsson C, Tariq M, Vincent A, Newsom-Davis J. Beeson D, et al. Among authors: croxen r. Ann N Y Acad Sci. 1998 May 13;841:181-3. doi: 10.1111/j.1749-6632.1998.tb10924.x. Ann N Y Acad Sci. 1998. PMID: 9668236 No abstract available.

7

A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

Croxen R, Beeson D, Newland C, Betty M, Vincent A, Newsom-Davis J. Croxen R, et al. Ann N Y Acad Sci. 1998 May 13;841:195-8. doi: 10.1111/j.1749-6632.1998.tb10927.x. Ann N Y Acad Sci. 1998. PMID: 9668239 No abstract available.

8

Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.

Nichols P, Croxen R, Vincent A, Rutter R, Hutchinson M, Newsom-Davis J, Beeson D. Nichols P, et al. Among authors: croxen r. Ann Neurol. 1999 Apr;45(4):439-43. Ann Neurol. 1999. PMID: 10211467

9

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.

Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A, Beeson D. Croxen R, et al. Brain. 2001 Jul;124(Pt 7):1362-72. doi: 10.1093/brain/124.7.1362. Brain. 2001. PMID: 11408331

10

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. Brownlow S, et al. Among authors: croxen r. J Clin Invest. 2001 Jul;108(1):125-30. doi: 10.1172/JCI12935. J Clin Invest. 2001. PMID: 11435464 Free PMC article.

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