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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.
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.
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E. Azzedine H, et al. Among authors: birouk n. Neurology. 2006 Aug 22;67(4):602-6. doi: 10.1212/01.wnl.0000230225.19797.93. Neurology. 2006. PMID: 16924012
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.
53 results