Engel AG - Search Results

1

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. Engel AG, et al. Hum Mol Genet. 1996 Sep;5(9):1217-27. doi: 10.1093/hmg/5.9.1217. Hum Mol Genet. 1996. PMID: 8872460

2

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Ohno K, et al. Among authors: engel ag. Am J Hum Genet. 2002 Apr;70(4):875-85. doi: 10.1086/339465. Epub 2002 Jan 14. Am J Hum Genet. 2002. PMID: 11791205 Free PMC article.

3

Congenital myasthenic syndromes.

Engel AG, Ohno K. Engel AG, et al. Adv Neurol. 2002;88:203-15. Adv Neurol. 2002. PMID: 11908226 Review. No abstract available.

4

The spectrum of congenital myasthenic syndromes.

Engel AG, Ohno K, Sine SM. Engel AG, et al. Mol Neurobiol. 2002 Oct-Dec;26(2-3):347-67. doi: 10.1385/MN:26:2-3:347. Mol Neurobiol. 2002. PMID: 12428764 Review.

5

Congenital myasthenic syndromes: progress over the past decade.

Engel AG, Ohno K, Sine SM. Engel AG, et al. Muscle Nerve. 2003 Jan;27(1):4-25. doi: 10.1002/mus.10269. Muscle Nerve. 2003. PMID: 12508290 Review.

6

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG. Ohno K, et al. Among authors: engel ag. Hum Mol Genet. 2003 Apr 1;12(7):739-48. doi: 10.1093/hmg/ddg089. Hum Mol Genet. 2003. PMID: 12651869

7

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

Ohno K, Milone M, Shen XM, Engel AG. Ohno K, et al. Among authors: engel ag. Hum Mol Genet. 2003 Dec 1;12(23):3055-66. doi: 10.1093/hmg/ddg334. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532324

8

Mechanistic diversity underlying fast channel congenital myasthenic syndromes.

Sine SM, Wang HL, Ohno K, Shen XM, Lee WY, Engel AG. Sine SM, et al. Among authors: engel ag. Ann N Y Acad Sci. 2003 Sep;998:128-37. doi: 10.1196/annals.1254.015. Ann N Y Acad Sci. 2003. PMID: 14592870 Review.

9

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG, Ohno K, Sine SM. Engel AG, et al. J Neurocytol. 2003 Jun-Sep;32(5-8):1017-37. doi: 10.1023/B:NEUR.0000020639.22895.28. J Neurocytol. 2003. PMID: 15034283 Review.

10

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

Shen XM, Ohno K, Sine SM, Engel AG. Shen XM, et al. Among authors: engel ag. Brain. 2005 Feb;128(Pt 2):345-55. doi: 10.1093/brain/awh364. Epub 2004 Dec 22. Brain. 2005. PMID: 15615813

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