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46. Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. Guilbot A; Ravisé N; Bouhouche A; Coullin P; Birouk N; Maisonobe T; Kuntzer T; Vial C; Grid D; Brice A; LeGuern E Eur J Hum Genet; 1999 Dec; 7(8):849-59. PubMed ID: 10602360 [TBL] [Abstract][Full Text] [Related]
47. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. Kabzińska D; Kochański A; Drac H; Rowińska-Marcińska K; Ryniewicz B; Pedrola L; Palau F; Hausmanowa-Petrusewicz I J Neurol Sci; 2006 Feb; 241(1-2):7-11. PubMed ID: 16343542 [TBL] [Abstract][Full Text] [Related]
48. Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. McEntagart ME; Reid SL; Irrthum A; Douglas JB; Eyre KE; Donaghy MJ; Anderson NE; Rahman N Ann Neurol; 2005 Feb; 57(2):293-7. PubMed ID: 15668982 [TBL] [Abstract][Full Text] [Related]
49. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Lupski JR Clin Res; 1992 Dec; 40(4):645-52. PubMed ID: 1486731 [No Abstract] [Full Text] [Related]
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53. [Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A]. Hryshchenko NV; Bychkova AM; Pichkur NA; Skyban HV; Dmytrenko VV; Livshyts' LA Tsitol Genet; 2003; 37(6):55-9. PubMed ID: 15067947 [TBL] [Abstract][Full Text] [Related]
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60. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Jordanova A; Irobi J; Thomas FP; Van Dijck P; Meerschaert K; Dewil M; Dierick I; Jacobs A; De Vriendt E; Guergueltcheva V; Rao CV; Tournev I; Gondim FA; D'Hooghe M; Van Gerwen V; Callaerts P; Van Den Bosch L; Timmermans JP; Robberecht W; Gettemans J; Thevelein JM; De Jonghe P; Kremensky I; Timmerman V Nat Genet; 2006 Feb; 38(2):197-202. PubMed ID: 16429158 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]