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Page 1
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Muntoni F, Bertini E, Bönnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Körner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. Muntoni F, et al. Neuromuscul Disord. 2002 Nov;12(9):889-96. doi: 10.1016/s0960-8966(02)00068-8. Neuromuscul Disord. 2002. PMID: 12398845 No abstract available.
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Jungbluth H, Beggs A, Bönnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. Jungbluth H, et al. Neuromuscul Disord. 2004 Nov;14(11):754-66. doi: 10.1016/j.nmd.2004.07.007. Neuromuscul Disord. 2004. PMID: 15482962 No abstract available.
359 results