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Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers.
Ferry A, Joanne P, Hadj-Said W, Vignaud A, Lilienbaum A, Hourdé C, Medja F, Noirez P, Charbonnier F, Chatonnet A, Chevessier F, Nicole S, Agbulut O, Butler-Browne G. Ferry A, et al. Among authors: chevessier f. Neuromuscul Disord. 2014 Nov;24(11):960-72. doi: 10.1016/j.nmd.2014.06.001. Epub 2014 Jun 10. Neuromuscul Disord. 2014. PMID: 25042397
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: chevessier f. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Atypical nuclear abnormalities in a patient with Brody disease.
Mussini JM, Magot A, Hantaï D, Sternberg D, Chevessier F, Péréon Y. Mussini JM, et al. Among authors: chevessier f. Neuromuscul Disord. 2015 Oct;25(10):773-9. doi: 10.1016/j.nmd.2015.07.005. Epub 2015 Jul 13. Neuromuscul Disord. 2015. PMID: 26248958
[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. Chevessier F, et al. J Soc Biol. 2005;199(1):61-77. doi: 10.1051/jbio:2005008. J Soc Biol. 2005. PMID: 16114265 French.
MUSK, a new target for mutations causing congenital myasthenic syndrome.
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. Chevessier F, et al. Hum Mol Genet. 2004 Dec 15;13(24):3229-40. doi: 10.1093/hmg/ddh333. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496425
34 results