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Items: 1 to 20 of 107

1.

Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation.

Navedo MF, Lasalde-Dominicci JA, Báez-Pagán CA, Díaz-Pérez L, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM.

Mol Cell Neurosci. 2006 May-Jun;32(1-2):82-90. Epub 2006 Apr 19.

2.

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.

3.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2004 Jan;14(1):24-32.

PMID:
14659409
4.

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
5.
6.
7.

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

Engel AG, Ohno K, Shen XM, Sine SM.

Ann N Y Acad Sci. 2003 Sep;998:138-60. Review.

PMID:
14592871
8.

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
9.

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.

Webster RG, Cossins J, Lashley D, Maxwell S, Liu WW, Wickens JR, Martinez-Martinez P, de Baets M, Beeson D.

Exp Neurol. 2013 Oct;248:286-98. doi: 10.1016/j.expneurol.2013.06.012. Epub 2013 Jun 21.

PMID:
23797154
10.

Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.

Gomez CM, Maselli RA, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P.

J Neurosci. 2002 Aug 1;22(15):6447-57.

11.

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL.

Muscle Nerve. 2003 Sep;28(3):293-301.

PMID:
12929188
12.
13.

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].

Andreux F, Hantaï D, Eymard B.

Rev Neurol (Paris). 2004 Feb;160(2):163-76. Review. French.

PMID:
15034473
14.

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG.

Ann Neurol. 2008 Jul;64(1):71-87. doi: 10.1002/ana.21408.

15.

Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.

Shen XM, Brengman J, Neubauer D, Sine SM, Engel AG.

J Biol Chem. 2016 Feb 12;291(7):3291-301. doi: 10.1074/jbc.M115.683995. Epub 2015 Dec 23.

16.

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.

Hatton CJ, Shelley C, Brydson M, Beeson D, Colquhoun D.

J Physiol. 2003 Mar 15;547(Pt 3):729-60. Epub 2003 Jan 24.

17.

The extracellular linker of muscle acetylcholine receptor channels is a gating control element.

Grosman C, Salamone FN, Sine SM, Auerbach A.

J Gen Physiol. 2000 Sep;116(3):327-40.

18.

Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.

Walogorsky M, Mongeon R, Wen H, Mandel G, Brehm P.

J Neurosci. 2012 Jun 6;32(23):7941-8. doi: 10.1523/JNEUROSCI.0158-12.2012.

19.

Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.

Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K.

Neuromuscul Disord. 2015 Jan;25(1):60-9. doi: 10.1016/j.nmd.2014.09.002. Epub 2014 Sep 10.

PMID:
25264167
20.

A human congenital myasthenia-causing mutation (epsilon L78P) of the muscle nicotinic acetylcholine receptor with unusual single channel properties.

Shelley C, Colquhoun D.

J Physiol. 2005 Apr 15;564(Pt 2):377-96. Epub 2005 Feb 24. Erratum in: J Physiol. 2008 Nov 1;586(21):5277.

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