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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Among authors: molgo j. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
Sigoillot SM, Bourgeois F, Karmouch J, Molgó J, Dobbertin A, Chevalier C, Houlgatte R, Léger J, Legay C. Sigoillot SM, et al. Among authors: molgo j. FASEB J. 2016 Jun;30(6):2382-99. doi: 10.1096/fj.201500162. Epub 2016 Mar 18. FASEB J. 2016. PMID: 26993635
This study points to new specific hallmarks for this CMS.-Sigoillot, S. M., Bourgeois, F., Karmouch, J., Molgo, J., Dobbertin, A., Chevalier, C., Houlgatte, R., Leger, J., Legay, C. ...
This study points to new specific hallmarks for this CMS.-Sigoillot, S. M., Bourgeois, F., Karmouch, J., Molgo, J., Dob …
256 results