Gouider R - 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: gouider r. 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. Neurology. 1995 Nov;45(11):2018-23. doi: 10.1212/wnl.45.11.2018. Neurology. 1995. PMID: 7501152

3

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

4

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: gouider r. Ann Neurol. 1997 Jan;41(1):104-8. doi: 10.1002/ana.410410117. Ann Neurol. 1997. PMID: 9005872

5

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: gouider r. Brain. 1997 May;120 ( Pt 5):813-23. doi: 10.1093/brain/120.5.813. Brain. 1997. PMID: 9183252

6

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: gouider r. 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

7

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

8

[Charcot-Marie-Tooth disease: electromyography is still useful in diagnosis and classification].

Birouk N, Maisonobe T, Le Forestier N, Gouider R, Léger JM, Bouche P. Birouk N, et al. Among authors: gouider r. Rev Neurol (Paris). 1997 Dec;153(12):727-36. Rev Neurol (Paris). 1997. PMID: 9686263 Review. French.

9

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: gouider r. Brain. 2001 Oct;124(Pt 10):1958-67. doi: 10.1093/brain/124.10.1958. Brain. 2001. PMID: 11571214

10

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Azzedine H, et al. Among authors: gouider r. Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687498 Free PMC article.

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