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Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulié J, Guicheney P. Donger C, et al. Among authors: chateau d. Am J Hum Genet. 1998 Oct;63(4):967-75. doi: 10.1086/302059. Am J Hum Genet. 1998. PMID: 9758617 Free PMC article.
Autosomal dominant late adult onset distal leg myopathy.
Pénisson-Besnier I, Dumez C, Chateau D, Dubas F, Fardeau M. Pénisson-Besnier I, et al. Among authors: chateau d. Neuromuscul Disord. 1998 Oct;8(7):459-66. doi: 10.1016/s0960-8966(98)00063-7. Neuromuscul Disord. 1998. PMID: 9829275
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: chateau d. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538
Adult onset reducing body myopathy.
Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF. Figarella-Branger D, et al. Among authors: chateau d. Neuromuscul Disord. 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. Neuromuscul Disord. 1999. PMID: 10619716
Oculopharyngeal muscular dystrophy in Japan.
Uyama E, Nohira O, Tomé FM, Chateau D, Tokunaga M, Ando M, Maki M, Okabe T, Uchino M. Uyama E, et al. Among authors: chateau d. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S41-9. doi: 10.1016/s0960-8966(97)00081-3. Neuromuscul Disord. 1997. PMID: 9392015
267 results