Mkaouar-Rebai E - Search Results

1

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F. Mezghani N, et al. J Diabetes Complications. 2010 Jul-Aug;24(4):270-7. doi: 10.1016/j.jdiacomp.2009.11.002. Epub 2010 Jan 4. J Diabetes Complications. 2010. PMID: 20045353

2

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

3

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.

Mezghani N, Mnif M, Kacem M, Mkaouar-Rebai E, Hadj Salem I, Kallel N, Charfi N, Abid M, Fakhfakh F. Mezghani N, et al. Biochem Biophys Res Commun. 2011 Apr 22;407(4):747-52. doi: 10.1016/j.bbrc.2011.03.094. Epub 2011 Apr 3. Biochem Biophys Res Commun. 2011. PMID: 21447323

4

The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.

Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F. Mezghani N, et al. Biochem Biophys Res Commun. 2011 Jul 29;411(2):247-52. doi: 10.1016/j.bbrc.2011.06.106. Epub 2011 Jun 23. Biochem Biophys Res Commun. 2011. PMID: 21723259

5

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.

6

A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.

Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Charfi N, Abid M, Fakhfakh F. Mezghani N, et al. Biochem Biophys Res Commun. 2013 Feb 22;431(4):670-4. doi: 10.1016/j.bbrc.2013.01.063. Epub 2013 Jan 26. Biochem Biophys Res Commun. 2013. PMID: 23357420

7

A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.

Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F. Tabebi M, et al. Biochem Biophys Res Commun. 2015 Apr 10;459(3):353-60. doi: 10.1016/j.bbrc.2015.01.151. Epub 2015 Feb 19. Biochem Biophys Res Commun. 2015. PMID: 25701779

8

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

9

Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2006 Feb 24;340(4):1251-8. doi: 10.1016/j.bbrc.2005.12.123. Epub 2006 Jan 5. Biochem Biophys Res Commun. 2006. PMID: 16406239 Clinical Trial.

10

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2008 May 9;369(3):849-52. doi: 10.1016/j.bbrc.2008.02.107. Epub 2008 Mar 4. Biochem Biophys Res Commun. 2008. PMID: 18325329

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