LeGuern E - Search Results

1

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: leguern e. Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542. Nat Genet. 2000. PMID: 10802647

2

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.

3

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A. LeGuern E, et al. Hum Mol Genet. 1996 Oct;5(10):1685-8. doi: 10.1093/hmg/5.10.1685. Hum Mol Genet. 1996. PMID: 8894708

4

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J. Hanash A, et al. Among authors: leguern e. J Med Genet. 1997 Jun;34(6):507-8. doi: 10.1136/jmg.34.6.507. J Med Genet. 1997. PMID: 9192274 Free PMC article.

5

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E. Meggouh F, et al. Among authors: leguern e. J Med Genet. 1998 Mar;35(3):251-2. doi: 10.1136/jmg.35.3.251. J Med Genet. 1998. PMID: 9541114 Free PMC article.

6

The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q.

Ring HZ, Chang H, Guilbot A, Brice A, LeGuern E, Francke U. Ring HZ, et al. Among authors: leguern e. Hum Genet. 1999 Apr;104(4):326-32. doi: 10.1007/s004390050961. Hum Genet. 1999. PMID: 10369162

7

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: leguern e. Genomics. 2000 Jan 15;63(2):271-8. doi: 10.1006/geno.1999.6088. Genomics. 2000. PMID: 10673338

8

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Escayg A, et al. Among authors: leguern e. Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159. Nat Genet. 2000. PMID: 10742094 No abstract available.

9

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: leguern e. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

10

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F. Cuesta A, et al. Among authors: leguern e. Nat Genet. 2002 Jan;30(1):22-5. doi: 10.1038/ng798. Epub 2001 Dec 17. Nat Genet. 2002. PMID: 11743580

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