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Sex-dependent rearrangements resulting in CMT1A and HNPP.
Lopes J, Vandenberghe A, Tardieu S, Ionasescu V, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Brice A, LeGuern E. Lopes J, et al. Among authors: levy n. Nat Genet. 1997 Oct;17(2):136-7. doi: 10.1038/ng1097-136. Nat Genet. 1997. PMID: 9326925 No abstract available.
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: levy 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.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N. Benquey T, et al. Among authors: levy n. Genes (Basel). 2022 Feb 9;13(2):318. doi: 10.3390/genes13020318. Genes (Basel). 2022. PMID: 35205364 Free PMC article.
1,141 results