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Items: 1 to 20 of 94

1.

Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.

Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM.

J Clin Invest. 2007 Oct;117(10):2903-12.

2.

Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome.

Zhu H, Pytel P, Gomez CM.

Hum Mol Genet. 2014 Jan 1;23(1):69-77. doi: 10.1093/hmg/ddt397. Epub 2013 Aug 13.

PMID:
23943790
3.

Skeletal muscle IP3R1 receptors amplify physiological and pathological synaptic calcium signals.

Zhu H, Bhattacharyya BJ, Lin H, Gomez CM.

J Neurosci. 2011 Oct 26;31(43):15269-83. doi: 10.1523/JNEUROSCI.3766-11.2011.

4.

Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.

Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, Grajales-Reyes JG, Robinson K, Pytel P, Báez-Pagán CA, Lasalde-Dominicci JA, Gomez CM.

Exp Neurol. 2015 Aug;270:88-94. doi: 10.1016/j.expneurol.2014.10.008. Epub 2014 Oct 23.

5.

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.

6.

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
7.

Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model.

Vohra BP, Groshong JS, Zayas R, Wollmann RL, Gomez CM.

Neurobiol Dis. 2006 Aug;23(2):462-70. Epub 2006 Jul 11.

PMID:
16815027
8.
9.

Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents.

Bhattacharyya BJ, Day JW, Gundeck JE, Leonard S, Wollmann RL, Gomez CM.

Synapse. 1997 Dec;27(4):367-77.

PMID:
9372559
10.

Schwann Cells in Neuromuscular Junction Formation and Maintenance.

Barik A, Li L, Sathyamurthy A, Xiong WC, Mei L.

J Neurosci. 2016 Sep 21;36(38):9770-81. doi: 10.1523/JNEUROSCI.0174-16.2016.

11.

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H.

Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10.

PMID:
20147321
12.

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.

13.

Focal caspase activation underlies the endplate myopathy in slow-channel syndrome.

Vohra BP, Groshong JS, Maselli RA, Verity MA, Wollmann RL, Gomez CM.

Ann Neurol. 2004 Mar;55(3):347-52.

PMID:
14991812
14.

Rapsyn interaction with calpain stabilizes AChR clusters at the neuromuscular junction.

Chen F, Qian L, Yang ZH, Huang Y, Ngo ST, Ruan NJ, Wang J, Schneider C, Noakes PG, Ding YQ, Mei L, Luo ZG.

Neuron. 2007 Jul 19;55(2):247-60.

15.

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.

Chevessier F, Peter C, Mersdorf U, Girard E, Krejci E, McArdle JJ, Witzemann V.

Neurobiol Dis. 2012 Mar;45(3):851-61. doi: 10.1016/j.nbd.2011.10.024. Epub 2011 Dec 8.

PMID:
22178625
16.

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.

17.

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.

Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL.

J Neurosci. 1997 Jun 1;17(11):4170-9.

18.

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS, Mihaylova V, Abicht A, Lochmüller H.

Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. Review.

PMID:
17686188
19.

Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models.

Otero-Cruz JD, Báez-Pagán CA, Dorna-Pérez L, Grajales-Reyes GE, Ramírez-Ordoñez RT, Luciano CA, Gómez CM, Lasalde-Dominicci JA.

P R Health Sci J. 2010 Mar;29(1):4-17. Review.

20.

[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

J Soc Biol. 2005;199(1):61-77. French.

PMID:
16114265

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