 | Roger N. Rosenberg - 2003 - 898 páginas
...The role of immunocytochemistry in the congenital myopathies. Neuromuscul Disord 1998;8:394-*00. 12. Ferreiro A, Quijano-Roy S, Pichereau C, et al: Mutations...the classical phenotype of multiminicore disease. Am H Hum Genet 2002;71:739-749. 13. Ferreiro A, Monnier N, Romero NB, et al: A recessive form of central... | |
 | Richard A. Walsh - 2005 - 812 páginas
...dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001; 29: 17-18. 100. Ferreiro A, Quijano-Roy S, Pichereau C et al. Mutations...nosology of early-onset myopathies. Am J Hum Genet 2002; 71: 739-49. 101. Colver AF, Steer CR, Godman MJ et al. Rigid spine syndrome and fatal cardiomyopathy.... | |
 | Marlene A. Horry - 2006 - 326 páginas
...JP; Romero, NB; Martin, JJ; Muntoni, F; Voit, T; Estournet, B; Richard, P; Fardeau, M; Guicheney, P. Mutations of the selenoprotein N gene, which is implicated...nosology of early-onset myopathies. Am J Hum Genet, 2002 71, 739-749. [28] Monnier, N; Ferreiro, A; Marry, I; Labarre-Vila, A; Mezin, P; Lunardi, J. A... | |
 | Victor Dubowitz, Caroline A. Sewry, Russell J. M. Lane - 2007 - 627 páginas
...receptor type 1 gene. Annals of Neurology 51:750-759 Ferreiro A, Quijano-Roy S, Pichereau C et al 2002b Mutations of the selenoprotein N gene, which is implicated...reassessing the nosology of early-onset myopathies. American Journal of Human Genetics 71:739-749 Ferreiro A, Ceuterick-de Groote C, Marks JJ et al 2004... | |
 | Ernesto Carafoli, Marisa Brini - 2007 - 592 páginas
...associated with the RyR 311 Voit, T., Estournet, B., Richard, P., Fardeau, M., and Guicheney, P. (2002b). "Mutations of the Selenoprotein N Gene, which is Implicated in Rigid Spine Muscular Dstrophy, Cuse the Cassical Penotype of Multiminicore Disease: Rassessing the Nsology of Early-Onset... | |
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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. Am J Hum Genet, 2002 71, 739-749. 