Ohno K - 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. Among authors: ohno k. Hum Mol Genet. 1996 Sep;5(9):1217-27. doi: 10.1093/hmg/5.9.1217. Hum Mol Genet. 1996. PMID: 8872460

2

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG. Ohno K, et al. Am J Hum Genet. 1999 Sep;65(3):635-44. doi: 10.1086/302551. Am J Hum Genet. 1999. PMID: 10441569 Free PMC article.

3

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.

Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Quiram PA, et al. Among authors: ohno k. J Clin Invest. 1999 Nov;104(10):1403-10. doi: 10.1172/JCI8179. J Clin Invest. 1999. PMID: 10562302 Free PMC article.

4

Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.

Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Wang HL, et al. Among authors: ohno k. J Gen Physiol. 2000 Sep;116(3):449-62. doi: 10.1085/jgp.116.3.449. J Gen Physiol. 2000. PMID: 10962020 Free PMC article.

5

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Shen XM, et al. Among authors: ohno k. Neurology. 2002 Dec 24;59(12):1881-8. doi: 10.1212/01.wnl.0000042422.87384.2f. Neurology. 2002. PMID: 12499478

6

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Milone M, et al. Among authors: ohno k. Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc. Neurology. 2009. PMID: 19620612 Free PMC article.

7

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Ohno K, et al. Neuron. 1996 Jul;17(1):157-70. doi: 10.1016/s0896-6273(00)80289-5. Neuron. 1996. PMID: 8755487 Free article.

8

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.

Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. Engel AG, et al. Among authors: ohno k. Ann Neurol. 1996 Nov;40(5):810-7. doi: 10.1002/ana.410400521. Ann Neurol. 1996. PMID: 8957026

9

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Ohno K, et al. Hum Mol Genet. 1997 May;6(5):753-66. doi: 10.1093/hmg/6.5.753. Hum Mol Genet. 1997. PMID: 9158150

10

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. Milone M, et al. Among authors: ohno k. J Neurosci. 1997 Aug 1;17(15):5651-65. doi: 10.1523/JNEUROSCI.17-15-05651.1997. J Neurosci. 1997. PMID: 9221765 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,361 results

Search Page

Filters