Chkili T - Search Results

1

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A. Benomar A, et al. Among authors: chkili t. Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411. Ann Neurol. 1994. PMID: 8154871

2

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A. David G, et al. Among authors: chkili t. Hum Mol Genet. 1998 Feb;7(2):165-70. doi: 10.1093/hmg/7.2.165. Hum Mol Genet. 1998. PMID: 9425222

3

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: chkili t. Am J Hum Genet. 1999 Sep;65(3):722-7. doi: 10.1086/302542. Am J Hum Genet. 1999. PMID: 10441578 Free PMC article.

4

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T. Bouhouche A, et al. Among authors: chkili t. J Neurol. 2003 Oct;250(10):1209-13. doi: 10.1007/s00415-003-0186-1. J Neurol. 2003. PMID: 14586604

5

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M. Bouhouche A, et al. Among authors: chkili t. Eur J Hum Genet. 2006 Feb;14(2):249-52. doi: 10.1038/sj.ejhg.5201537. Eur J Hum Genet. 2006. PMID: 16333315

6

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: chkili t. 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.

7

Vitamin E deficiency ataxia associated with adenoma.

Benomar A, Yahyaoui M, Marzouki N, Birouk N, Bouslam N, Belaidi H, Amarti A, Ouazzani R, Chkili T. Benomar A, et al. Among authors: chkili t. J Neurol Sci. 1999 Jan 1;162(1):97-101. doi: 10.1016/s0022-510x(98)00284-6. J Neurol Sci. 1999. PMID: 10064178

8

A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.

Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M. Bouhouche A, et al. Among authors: chkili t. Can J Neurol Sci. 2007 Nov;34(4):421-6. doi: 10.1017/s0317167100007290. Can J Neurol Sci. 2007. PMID: 18062449

9

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: chkili t. 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.

10

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M. Bouhouche A, et al. Among authors: chkili t. J Med Genet. 2006 May;43(5):441-3. doi: 10.1136/jmg.2005.039230. Epub 2006 Jan 6. J Med Genet. 2006. PMID: 16399879 Free PMC article.

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