Mkaouar-Rebai E - Search Results

1

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

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

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

4

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

5

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

Mkaouar-Rebai E, Felhi R, Tabebi M, Alila-Fersi O, Chamkha I, Maalej M, Ammar M, Kammoun F, Keskes L, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2016 Apr 29;473(2):578-85. doi: 10.1016/j.bbrc.2016.03.126. Epub 2016 Mar 28. Biochem Biophys Res Commun. 2016. PMID: 27033601

6

Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.

Mkaouar-Rebai E, Chamkha I, Mezghani N, Ben Ayed I, Fakhfakh F. Mkaouar-Rebai E, et al. Mitochondrial DNA. 2013 Jun;24(3):163-78. doi: 10.3109/19401736.2012.748045. Epub 2013 Jan 9. Mitochondrial DNA. 2013. PMID: 23301511 Review.

7

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

Maalej M, Mkaouar-Rebai E, Mnif M, Mezghani N, Ben Ayed I, Chamkha I, Abid M, Fakhfakh F. Maalej M, et al. Pathol Biol (Paris). 2014 Feb;62(1):41-8. doi: 10.1016/j.patbio.2013.07.013. Epub 2013 Sep 4. Pathol Biol (Paris). 2014. PMID: 24011957

8

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

9

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

10

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

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