Bouche P - Search Results

1

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: bouche p. Neuromuscul Disord. 2001 Jul;11(5):458-63. doi: 10.1016/s0960-8966(00)00222-4. Neuromuscul Disord. 2001. PMID: 11404117

2

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.

Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Léger JM, Vallat JM, Agid Y, Bouche P, Brice A. Gouider R, et al. Among authors: bouche p. Neurology. 1995 Nov;45(11):2018-23. doi: 10.1212/wnl.45.11.2018. Neurology. 1995. PMID: 7501152

3

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.

Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A. Le Guern E, et al. Among authors: bouche p. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):463-9. doi: 10.1016/0960-8966(94)90085-x. Neuromuscul Disord. 1994. PMID: 7881290

4

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: bouche p. Am J Hum Genet. 1996 Jun;58(6):1223-30. Am J Hum Genet. 1996. PMID: 8651299 Free PMC article.

5

Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.

LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A. LeGuern E, et al. Among authors: bouche p. Ann Neurol. 1997 Jan;41(1):104-8. doi: 10.1002/ana.410410117. Ann Neurol. 1997. PMID: 9005872

6

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P. Birouk N, et al. Among authors: bouche p. Brain. 1997 May;120 ( Pt 5):813-23. doi: 10.1093/brain/120.5.813. Brain. 1997. PMID: 9183252

7

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: bouche p. 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.

8

Recurrent polyradiculoneuropathy with the 17p11.2 deletion.

Le Forestier N, LeGuern E, Coullin P, Birouk N, Maisonobe T, Brice A, Léger JM, Bouche P. Le Forestier N, et al. Among authors: bouche p. Muscle Nerve. 1997 Sep;20(9):1184-6. doi: 10.1002/(sici)1097-4598(199709)20:9<1184::aid-mus16>3.0.co;2-t. Muscle Nerve. 1997. PMID: 9270678

9

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A. Rouger H, et al. Among authors: bouche p. Hum Mutat. 1997;10(6):443-52. doi: 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1997. PMID: 9401007

10

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: bouche p. Neurology. 1998 Apr;50(4):1074-82. doi: 10.1212/wnl.50.4.1074. Neurology. 1998. PMID: 9566397

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