Birouk N - Search Results

1

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

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

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.

Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Mouton P, et al. Among authors: birouk n. Neurology. 1999 Apr 22;52(7):1440-6. doi: 10.1212/wnl.52.7.1440. Neurology. 1999. PMID: 10227632

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

Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.

Dubourg O, Barhoumi C, Azzedine H, Birouk N, Brice A, Bouche P, Leguern E. Dubourg O, et al. Among authors: birouk n. Muscle Nerve. 2000 Oct;23(10):1508-14. doi: 10.1002/1097-4598(200010)23:10<1508::aid-mus6>3.0.co;2-d. Muscle Nerve. 2000. PMID: 11003785

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

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

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Among authors: birouk n. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.

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