LeGuern E - Search Results

1

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, Brice A; French Clinical and Genetic Research Network on FTLD/FTLD-ALS. Le Ber I, et al. Among authors: leguern e. Neurobiol Aging. 2015 Nov;36(11):3116.e5-3116.e8. doi: 10.1016/j.neurobiolaging.2015.08.009. Epub 2015 Aug 14. Neurobiol Aging. 2015. PMID: 26476236

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

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A. Benomar A, et al. Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411. Ann Neurol. 1994. PMID: 8154871

4

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P. Birouk N, et al. Among authors: leguern e. Neurology. 1998 Apr;50(4):1074-82. doi: 10.1212/wnl.50.4.1074. Neurology. 1998. PMID: 9566397

5

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. Baulac S, et al. Among authors: leguern e. Am J Hum Genet. 1999 Oct;65(4):1078-85. doi: 10.1086/302593. Am J Hum Genet. 1999. PMID: 10486327 Free PMC article.

6

Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: leguern e. Hum Mol Genet. 1999 Nov;8(12):2285-92. doi: 10.1093/hmg/8.12.2285. Hum Mol Genet. 1999. PMID: 10545609

7

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.

Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Dubourg O, et al. Among authors: leguern e. Neuromuscul Disord. 2000 Mar;10(3):206-8. doi: 10.1016/s0960-8966(99)00103-0. Neuromuscul Disord. 2000. PMID: 10734269 No abstract available.

8

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. Dubourg O, et al. Among authors: leguern e. Neuromuscul Disord. 2001 Jul;11(5):458-63. doi: 10.1016/s0960-8966(00)00222-4. Neuromuscul Disord. 2001. PMID: 11404117

9

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, Prud'homme JF, Baulac M, Brice A, LeGuern E. Baulac S, et al. Among authors: leguern e. Ann Neurol. 2001 Jun;49(6):786-92. doi: 10.1002/ana.1014. Ann Neurol. 2001. PMID: 11409431

10

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. Dubourg O, et al. Among authors: leguern e. Brain. 2001 Oct;124(Pt 10):1958-67. doi: 10.1093/brain/124.10.1958. Brain. 2001. PMID: 11571214

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