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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: schaeffer l. 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
Calcineurin-NFAT signaling, together with GABP and peroxisome PGC-1{alpha}, drives utrophin gene expression at the neuromuscular junction.
Angus LM, Chakkalakal JV, Méjat A, Eibl JK, Bélanger G, Megeney LA, Chin ER, Schaeffer L, Michel RN, Jasmin BJ. Angus LM, et al. Among authors: schaeffer l. Am J Physiol Cell Physiol. 2005 Oct;289(4):C908-17. doi: 10.1152/ajpcell.00196.2005. Epub 2005 Jun 1. Am J Physiol Cell Physiol. 2005. PMID: 15930144 Free article.
[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: schaeffer l. J Soc Biol. 2005;199(1):61-77. doi: 10.1051/jbio:2005008. J Soc Biol. 2005. PMID: 16114265 French.
353 results