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The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
Neuromuscul Disord. 2003 Jan;13(1):60-7. doi: 10.1016/s0960-8966(02)00196-7.
Neuromuscul Disord. 2003.
PMID: 12467734
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V.
Hamadouche T, et al. Among authors: kassouri n.
Ann Hum Genet. 2008 Sep;72(Pt 5):590-7. doi: 10.1111/j.1469-1809.2008.00456.x. Epub 2008 Jun 6.
Ann Hum Genet. 2008.
PMID: 18549403
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Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N.
Delague V, et al. Among authors: kassouri n.
Am J Hum Genet. 2007 Jul;81(1):1-16. doi: 10.1086/518428. Epub 2007 May 15.
Am J Hum Genet. 2007.
PMID: 17564959
Free PMC article.
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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: kassouri n.
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.
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