Engel AG - Search Results

1

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.

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: genetic defects of the neuromuscular junction.

Ohno K, Engel AG. Ohno K, et al. Among authors: engel ag. Curr Neurol Neurosci Rep. 2002 Jan;2(1):78-88. doi: 10.1007/s11910-002-0057-7. Curr Neurol Neurosci Rep. 2002. PMID: 11898587 Review.

4

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.

5

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

Sine SM, Shen XM, Wang HL, Ohno K, Lee WY, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel AG. Sine SM, et al. Among authors: engel ag. J Gen Physiol. 2002 Oct;120(4):483-96. doi: 10.1085/jgp.20028568. J Gen Physiol. 2002. PMID: 12356851 Free PMC article.

6

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.

7

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG. Shen XM, et al. Among authors: engel ag. J Clin Invest. 2003 Feb;111(4):497-505. doi: 10.1172/JCI16997. J Clin Invest. 2003. PMID: 12588888 Free PMC article.

8

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

9

Sleuthing molecular targets for neurological diseases at the neuromuscular junction.

Engel AG, Ohno K, Sine SM. Engel AG, et al. Nat Rev Neurosci. 2003 May;4(5):339-52. doi: 10.1038/nrn1101. Nat Rev Neurosci. 2003. PMID: 12728262 Review. No abstract available.

10

Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Tsujino A, et al. Among authors: engel ag. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23. Proc Natl Acad Sci U S A. 2003. PMID: 12766226 Free PMC article.

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