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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: boerio d. 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
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.
Bangratz M, Sarrazin N, Devaux J, Zambroni D, Echaniz-Laguna A, René F, Boërio D, Davoine CS, Fontaine B, Feltri ML, Benoit E, Nicole S. Bangratz M, et al. Among authors: boerio d. Am J Pathol. 2012 May;180(5):2040-55. doi: 10.1016/j.ajpath.2012.01.035. Epub 2012 Mar 23. Am J Pathol. 2012. PMID: 22449950 Free PMC article.
[Nerve conduction blocks and peripheral neuropathies].
Lefaucheur JP, Boërio D, Créange A. Lefaucheur JP, et al. Among authors: boerio d. J Soc Biol. 2006;200(4):307-21. doi: 10.1051/jbio:2006036. J Soc Biol. 2006. PMID: 17652968 Review. French.
29 results