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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.
Bauché S, Boerio D, Davoine CS, Bernard V, Stum M, Bureau C, Fardeau M, Romero NB, Fontaine B, Koenig J, Hantaï D, Gueguen A, Fournier E, Eymard B, Nicole S. Bauché S, et al. Among authors: bernard v. Neuromuscul Disord. 2013 Dec;23(12):998-1009. doi: 10.1016/j.nmd.2013.07.005. Epub 2013 Sep 4. Neuromuscul Disord. 2013. PMID: 24011702
Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles.
Ramet L, Zimmermann J, Bersot T, Poirel O, De Gois S, Silm K, Sakae DY, Mansouri-Guilani N, Bourque MJ, Trudeau LE, Pietrancosta N, Daumas S, Bernard V, Rosenmund C, El Mestikawy S. Ramet L, et al. Among authors: bernard v. J Neurosci. 2017 Apr 12;37(15):4181-4199. doi: 10.1523/JNEUROSCI.0282-16.2017. Epub 2017 Mar 17. J Neurosci. 2017. PMID: 28314816 Free PMC article.
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: bernard v. 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
334 results