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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: hantai d. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B. Eymard B, et al. Among authors: hantai d. Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Handb Clin Neurol. 2013. PMID: 23622369 Review.
Congenital myasthenic syndromes: an update.
Hantaï D, Nicole S, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. Curr Opin Neurol. 2013. PMID: 23995276 Review.
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: hantai d. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. Curr Opin Neurol. 2004. PMID: 15367858 Review.
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: hantai d. 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: hantai d. 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: hantai d. 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.
82 results