Birouk N - Search Results

1

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

2

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: birouk n. 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.

3

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

4

[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. Rev Neurol (Paris). 1997 Dec;153(12):727-36. Rev Neurol (Paris). 1997. PMID: 9686263 Review. French.

5

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. Bouhouche A, et al. Among authors: birouk n. Am J Hum Genet. 1999 Sep;65(3):722-7. doi: 10.1086/302542. Am J Hum Genet. 1999. PMID: 10441578 Free PMC article.

6

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.

Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E. Guilbot A, et al. Among authors: birouk n. Eur J Hum Genet. 1999 Dec;7(8):849-59. doi: 10.1038/sj.ejhg.5200382. Eur J Hum Genet. 1999. PMID: 10602360

7

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

8

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

9

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: birouk n. 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.

10

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

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