Chamkha I - Search Results

1

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

Chamkha I, Alila-Fersi O, Mkaouar-Rebai E, Aloulou H, Kifagi C, Hachicha M, Fakhfakh F. Chamkha I, et al. Biochem Biophys Res Commun. 2012 Dec 7;429(1-2):31-8. doi: 10.1016/j.bbrc.2012.10.105. Epub 2012 Nov 3. Biochem Biophys Res Commun. 2012. PMID: 23131568

2

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

3

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.

Ayed IB, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F. Ayed IB, et al. Among authors: chamkha i. Biochem Biophys Res Commun. 2011 Jul 29;411(2):381-6. doi: 10.1016/j.bbrc.2011.06.154. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741369

4

A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.

Mkaouar-Rebai E, Chamkha I, Kammoun T, Alila-Fersi O, Aloulou H, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: chamkha i. Biochem Biophys Res Commun. 2013 Jan 11;430(2):585-91. doi: 10.1016/j.bbrc.2012.11.109. Epub 2012 Dec 5. Biochem Biophys Res Commun. 2013. PMID: 23219819

5

A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy.

Mkaouar-Rebai E, Ben Mahmoud A, Chamkha I, Chabchoub I, Kammoun T, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: chamkha i. Mitochondrial DNA. 2014 Oct;25(5):394-9. doi: 10.3109/19401736.2013.803086. Epub 2013 Jul 10. Mitochondrial DNA. 2014. PMID: 23841600

6

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. Among authors: chamkha i. 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

7

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, Tabebi M, Tlili A, Keskes L, Mahfoudh A, Fakhfakh F. Alila-Fersi O, et al. Among authors: chamkha i. Biochem Biophys Res Commun. 2017 Feb 26;484(1):71-78. doi: 10.1016/j.bbrc.2017.01.070. Epub 2017 Jan 16. Biochem Biophys Res Commun. 2017. PMID: 28104394

8

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. Among authors: chamkha i. 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

9

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. Among authors: chamkha i. J Child Neurol. 2010 Jun;25(6):770-5. doi: 10.1177/0883073809344351. Epub 2010 Mar 4. J Child Neurol. 2010. PMID: 20207608

10

A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles.

Mkaouar-Rebai E, Chamkha I, Kammoun T, Chabchoub I, Aloulou H, Fendri N, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: chamkha i. Mitochondrion. 2010 Aug;10(5):449-55. doi: 10.1016/j.mito.2010.04.003. Epub 2010 Apr 11. Mitochondrion. 2010. PMID: 20388556

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