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735 results

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Page 1
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: fournier e. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
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: fournier e. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Pregnancy in congenital myasthenic syndrome.
Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T. Servais L, et al. Among authors: fournier e. J Neurol. 2013 Mar;260(3):815-9. doi: 10.1007/s00415-012-6709-x. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108489
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, Grosjean I, Le Goff L, Kröger S, Meltoranta J, Bauché S, Sternberg D, Fournier E, Kostera-Pruszczyk A, O'Connor E, Eymard B, Lochmüller H, Martinat C, Schaeffer L. Jacquier A, et al. Among authors: fournier e. Acta Neuropathol. 2022 Oct;144(4):707-731. doi: 10.1007/s00401-022-02475-8. Epub 2022 Aug 10. Acta Neuropathol. 2022. PMID: 35948834 Free PMC article.
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. Among authors: fournier e. 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
[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. Among authors: fournier e. J Soc Biol. 2005;199(1):61-77. doi: 10.1051/jbio:2005008. J Soc Biol. 2005. PMID: 16114265 French.
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D. Huzé C, et al. Among authors: fournier e. Am J Hum Genet. 2009 Aug;85(2):155-67. doi: 10.1016/j.ajhg.2009.06.015. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631309 Free PMC article.
[Congenital myasthenic syndromes; French experience].
Eymard B, Hantaï D, Fournier E, Nicole S, Sternberg D, Richard P, Fardeau M. Eymard B, et al. Among authors: fournier e. Bull Acad Natl Med. 2014 Feb;198(2):257-70; discussion 270-1. Bull Acad Natl Med. 2014. PMID: 26263703 Review. French.
[Congenital myasthenic syndromes due to mutations in the rapsyn gene].
Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy JP, Koenig J, Richard P, Hantaï D. Eymard B, et al. Among authors: fournier e. Rev Neurol (Paris). 2004 May;160(5 Pt 2):S78-84. doi: 10.1016/s0035-3787(04)71009-7. Rev Neurol (Paris). 2004. PMID: 15269664 Review. French.
735 results