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[Experimental and pathological changes of the neuromuscular junction].
Koenig J, Bauché S, Ben Ammar A, Nicolle D, Rigoard P, Eymard B, Hantaï D. Koenig J, et al. Among authors: eymard b. Neurochirurgie. 2009 Mar;55 Suppl 1:S104-9. doi: 10.1016/j.neuchi.2008.05.008. Epub 2009 Feb 10. Neurochirurgie. 2009. PMID: 19211115 Review. French.
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D. Richard P, et al. Among authors: eymard b. J Med Genet. 2003 Jun;40(6):e81. doi: 10.1136/jmg.40.6.e81. J Med Genet. 2003. PMID: 12807980 Free PMC article. No abstract available.
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D. Yasaki E, et al. Among authors: eymard b. Neuromuscul Disord. 2004 Jan;14(1):24-32. doi: 10.1016/j.nmd.2003.07.002. Neuromuscul Disord. 2004. PMID: 14659409
[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. 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.
415 results