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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. De Sandre-Giovannoli A, et al. Among authors: stewart cl. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17. Am J Hum Genet. 2002. PMID: 11799477 Free PMC article.
Lamin a truncation in Hutchinson-Gilford progeria.
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. De Sandre-Giovannoli A, et al. Among authors: stewart cl. Science. 2003 Jun 27;300(5628):2055. doi: 10.1126/science.1084125. Epub 2003 Apr 17. Science. 2003. PMID: 12702809 No abstract available.
Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).
Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V. Poitelon Y, et al. Among authors: stewart cl. Neuromolecular Med. 2012 Mar;14(1):40-52. doi: 10.1007/s12017-012-8168-z. Epub 2012 Feb 14. Neuromolecular Med. 2012. PMID: 22331516
The laminopathies: nuclear structure meets disease.
Mounkes L, Kozlov S, Burke B, Stewart CL. Mounkes L, et al. Among authors: stewart cl. Curr Opin Genet Dev. 2003 Jun;13(3):223-30. doi: 10.1016/s0959-437x(03)00058-3. Curr Opin Genet Dev. 2003. PMID: 12787783 Review.
Mouse models of the laminopathies.
Stewart CL, Kozlov S, Fong LG, Young SG. Stewart CL, et al. Exp Cell Res. 2007 Jun 10;313(10):2144-56. doi: 10.1016/j.yexcr.2007.03.026. Epub 2007 Mar 31. Exp Cell Res. 2007. PMID: 17493612 Free PMC article. Review.
338 results