Mkaouar-Rebai E - Search Results

1

Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.

Mkaouar-Rebai E, Ellouze E, Chamkha I, Kammoun F, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. J Child Neurol. 2011 Jan;26(1):12-20. doi: 10.1177/0883073810371227. Epub 2010 Jun 4. J Child Neurol. 2011. PMID: 20525945

2

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.

Fendri-Kriaa N, Kammoun F, Salem IH, Kifagi C, Mkaouar-Rebai E, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Eur J Neurol. 2011 May;18(5):695-702. doi: 10.1111/j.1468-1331.2010.03216.x. Epub 2010 Oct 6. Eur J Neurol. 2011. PMID: 21040232

3

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

Mkaouar-Rebai E, Chamkha I, Kammoun F, Kammoun T, Aloulou H, Hachicha M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Mol Genet Metab. 2009 Jul;97(3):179-84. doi: 10.1016/j.ymgme.2009.03.003. Epub 2009 Mar 16. Mol Genet Metab. 2009. PMID: 19349200

4

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.

Mkaouar-Rebai E, Chaari W, Younes S, Bousoffara R, Sfar MT, Fakhfakh F. Mkaouar-Rebai E, et al. Pediatr Neurol. 2009 Jun;40(6):437-42. doi: 10.1016/j.pediatrneurol.2009.01.004. Pediatr Neurol. 2009. PMID: 19433277

5

A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder.

Mkaouar-Rebai E, Kammoun F, Chamkha I, Kammoun N, Hsairi I, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. J Child Neurol. 2010 Jun;25(6):770-5. doi: 10.1177/0883073809344351. Epub 2010 Mar 4. J Child Neurol. 2010. PMID: 20207608

6

The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).

Fendri-Kriaa N, Louhichi N, Mkaouar-Rebai E, Chabchoub G, Kammoun F, Salem IH, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. J Child Neurol. 2010 Nov;25(11):1362-8. doi: 10.1177/0883073810365739. Epub 2010 Apr 9. J Child Neurol. 2010. PMID: 20382841

7

Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.

Fendri-Kriaa N, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation. Fendri-Kriaa N, et al. J Child Neurol. 2010 Aug;25(8):1042-6. doi: 10.1177/0883073809356353. J Child Neurol. 2010. PMID: 20631224

8

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F. Chamkha I, et al. Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6. Biochem Biophys Res Commun. 2011. PMID: 21144833

9

Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.

Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F. Fendri-Kriaa N, et al. J Child Neurol. 2012 May;27(5):564-8. doi: 10.1177/0883073811420496. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940684

10

Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population.

Baklouti-Gargouri S, Ghorbel M, Chamkha I, Mkaouar-Rebai E, Sellami A, Chakroun N, Fakhfakh F, Ammar-Keskes L. Baklouti-Gargouri S, et al. Genet Test Mol Biomarkers. 2012 Nov;16(11):1298-302. doi: 10.1089/gtmb.2012.0052. Epub 2012 Oct 2. Genet Test Mol Biomarkers. 2012. PMID: 23030649

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