LeGuern E - Search Results

1

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: leguern e. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338

2

Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group.

Brice A, Tardieu S, Campion D, Le Guern E, Martinez M, Carpentier A, Penet C, Dubois B, Bellis M, Mallet J, et al. Brice A, et al. Am J Med Genet. 1995 Apr 24;60(2):91-3. doi: 10.1002/ajmg.1320600202. Am J Med Genet. 1995. PMID: 7485257

3

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Dürr A, Zaim A, et al. Benomar A, et al. Among authors: leguern e. Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84. Nat Genet. 1995. PMID: 7647798

4

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

Le Guern E, Sturtz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud PM, Tardieu S, Bouche P, Chazot G, et al. Le Guern E, et al. Cytogenet Cell Genet. 1994;65(4):261-4. doi: 10.1159/000133643. Cytogenet Cell Genet. 1994. PMID: 7903071

5

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Stevanin G, Chneiweiss H, Le Guern E, Ravise N, Dürr A, Penet C, Agid Y, Brice A. Stevanin G, et al. Hum Mol Genet. 1993 Sep;2(9):1483-5. doi: 10.1093/hmg/2.9.1483. Hum Mol Genet. 1993. PMID: 8242077 No abstract available.

6

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. Stevanin G, et al. Am J Hum Genet. 1994 Jan;54(1):11-20. Am J Hum Genet. 1994. PMID: 8279460 Free PMC article.

7

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A. Lopes J, et al. Among authors: leguern e. Am J Hum Genet. 1996 Jun;58(6):1223-30. Am J Hum Genet. 1996. PMID: 8651299 Free PMC article.

8

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

LeGuern E, Gouider R, Ravisé N, Lopes J, Tardieu S, Gugenheim M, Abbas N, Bouche P, Agid Y, Brice A. LeGuern E, et al. Hum Mol Genet. 1996 Jan;5(1):103-6. doi: 10.1093/hmg/5.1.103. Hum Mol Genet. 1996. PMID: 8789446

9

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

10

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: leguern e. Hum Mol Genet. 1998 Jan;7(1):141-8. doi: 10.1093/hmg/7.1.141. Hum Mol Genet. 1998. PMID: 9384615

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