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Results: 1 to 20 of 109

1.

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG.

Neurology. 2012 Jul 31;79(5):449-54. doi: 10.1212/WNL.0b013e31825b5bda. Epub 2012 May 16.

PMID:
22592360
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D.

Brain. 2012 Apr;135(Pt 4):1070-80. doi: 10.1093/brain/aws016. Epub 2012 Mar 1.

PMID:
22382357
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

Brain. 2005 Feb;128(Pt 2):345-55. Epub 2004 Dec 22.

PMID:
15615813
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

Neurology. 2002 Dec 24;59(12):1881-8.

PMID:
12499478
[PubMed - indexed for MEDLINE]
5.

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.

Shen XM, Brengman JM, Sine SM, Engel AG.

J Clin Invest. 2012 Jul 2;122(7):2613-21. doi: 10.1172/JCI63415. Epub 2012 Jun 25.

PMID:
22728938
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

J Gen Physiol. 2002 Oct;120(4):483-96.

PMID:
12356851
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit.

Fidzianska A, Ryniewicz B, Shen XM, Engel AG.

Neuromuscul Disord. 2005 Nov;15(11):753-9. Epub 2005 Sep 28.

PMID:
16198106
[PubMed - indexed for MEDLINE]
8.

Number and locations of agonist binding sites required to activate homomeric Cys-loop receptors.

Rayes D, De Rosa MJ, Sine SM, Bouzat C.

J Neurosci. 2009 May 6;29(18):6022-32. doi: 10.1523/JNEUROSCI.0627-09.2009.

PMID:
19420269
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening.

Peter C, Korngreen A, Witzemann V.

Pflugers Arch. 2005 Jun;450(3):178-84. Epub 2005 Apr 27.

PMID:
15864502
[PubMed - indexed for MEDLINE]
10.

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.

Neurology. 2004 Apr 13;62(7):1090-6.

PMID:
15079006
[PubMed - indexed for MEDLINE]
11.

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.

Neuron. 1996 Jul;17(1):157-70.

PMID:
8755487
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

Brain. 2001 Jul;124(Pt 7):1362-72.

PMID:
11408331
[PubMed - indexed for MEDLINE]
Free Article
13.

Binding sites contribute unequally to the gating of mouse nicotinic alpha D200N acetylcholine receptors.

Akk G, Sine S, Auerbach A.

J Physiol. 1996 Oct 1;496 ( Pt 1):185-96.

PMID:
8910207
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Hum Mol Genet. 1997 May;6(5):753-66.

PMID:
9158150
[PubMed - indexed for MEDLINE]
Free Article
15.

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG.

Neuron. 1995 Jul;15(1):229-39.

PMID:
7619526
[PubMed - indexed for MEDLINE]
Free Article
17.

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

Shen XM, Deymeer F, Sine SM, Engel AG.

Ann Neurol. 2006 Jul;60(1):128-36.

PMID:
16685696
[PubMed - indexed for MEDLINE]
18.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.

Brain. 2006 Oct;129(Pt 10):2784-93. Epub 2006 Aug 17.

PMID:
16916845
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

J Clin Invest. 2003 Feb;111(4):497-505.

PMID:
12588888
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.

Ann Neurol. 2002 Jan;51(1):102-12.

PMID:
11782989
[PubMed - indexed for MEDLINE]

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