Imen Chamkha

affiliated with the university, PhD
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  1. 2018
  2. Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?

    Ghorbel, R., Ben Salah, G., Ghorbel, R., Ben Mahmoud, A., Imen Chamkha, Mkaouar-Rebai, E., Ammar-Keskes, L. & Fakhfakh, F., 2018 Feb, In : Environmental Science and Pollution Research. 25, 6, p. 5779-5787

    Research output: Contribution to journalArticle

  3. 2017
  4. 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., Imen Chamkha, Majdoub, I., Gargouri, L., Mkaouar-Rebai, E., Tabebi, M., Tlili, A., Keskes, L., Mahfoudh, A. & Fakhfakh, F., 2017 Feb 26, In : Biochemical and Biophysical Research Communications. 484, 1, p. 71-78 8 p.

    Research output: Contribution to journalArticle

  5. 2016
  6. Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

    Alila, O. F., Rebai, E. M., Tabebi, M., Tej, A., Imen Chamkha, Tlili, A., Bouguila, J., Tilouche, S., Soyah, N., Boughamoura, L. & Fakhfakh, F., 2016 Jul, In : Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis. 27, 4, p. 2873-80 8 p.

    Research output: Contribution to journalArticle

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

    Mkaouar-Rebai, E., Felhi, R., Tabebi, M., Alila-Fersi, O., Imen Chamkha, Maalej, M., Ammar, M., Kammoun, F., Keskes, L., Hachicha, M. & Fakhfakh, F., 2016 Apr 29, In : Biochemical and Biophysical Research Communications. 473, 2, p. 578-85 8 p.

    Research output: Contribution to journalArticle

  8. 2014
  9. 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., Imen Chamkha, Chabchoub, I., Kammoun, T., Hachicha, M. & Fakhfakh, F., 2014 Oct, In : Mitochondrial DNA. 25, 5, p. 394-9 6 p.

    Research output: Contribution to journalArticle

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

    Maalej, M., Mkaouar-Rebai, E., Mnif, M., Mezghani, N., Ben Ayed, I., I Chamkha, Abid, M. & Fakhfakh, F., 2014 Feb, In : Pathologie et Biologie. 62, 1, p. 41-8 8 p.

    Research output: Contribution to journalArticle

  11. 2013
  12. Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study

    Mkaouar-Rebai, E., Imen Chamkha, Mezghani, N., Ben Ayed, I. & Fakhfakh, F., 2013 Jun, In : Mitochondrial DNA. 24, 3, p. 163-78 16 p.

    Research output: Contribution to journalArticle

  13. 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., Imen Chamkha, Kammoun, T., Alila-Fersi, O., Aloulou, H., Hachicha, M. & Fakhfakh, F., 2013 Jan 11, In : Biochemical and Biophysical Research Communications. 430, 2, p. 585-91 7 p.

    Research output: Contribution to journalArticle

  14. 2012
  15. A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease

    Imen Chamkha, Alila-Fersi, O., Mkaouar-Rebai, E., Aloulou, H., Kifagi, C., Hachicha, M. & Fakhfakh, F., 2012 Dec 7, In : Biochemical and Biophysical Research Communications. 429, 1-2, p. 31-8 8 p.

    Research output: Contribution to journalArticle

  16. 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., Imen Chamkha, Mkaouar-Rebai, E., Sellami, A., Chakroun, N., Fakhfakh, F. & Ammar-Keskes, L., 2012 Nov, In : Genetic Testing and Molecular Biomarkers. 16, 11, p. 1298-302 5 p.

    Research output: Contribution to journalArticle

  17. 2011
  18. A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions

    Ayed, I. B., Imen Chamkha, Mkaouar-Rebai, E., Kammoun, T., Mezghani, N., Chabchoub, I., Aloulou, H., Hachicha, M. & Fakhfakh, F., 2011 Jul 29, In : Biochemical and Biophysical Research Communications. 411, 2, p. 381-6 6 p.

    Research output: Contribution to journalArticle

  19. 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

    Imen Chamkha, Mkaouar-Rebai, E., Aloulou, H., Chabchoub, I., Kifagi, C., Fendri-Kriaa, N., Kammoun, T., Hachicha, M. & Fakhfakh, F., 2011 Jan 7, In : Biochemical and Biophysical Research Communications. 404, 1, p. 504-10 7 p.

    Research output: Contribution to journalArticle

  20. 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., Imen Chamkha, Kammoun, F., Triki, C. & Fakhfakh, F., 2011 Jan, In : Journal of Child Neurology. 26, 1, p. 12-20 9 p.

    Research output: Contribution to journalArticle

  21. 2010
  22. 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., Imen Chamkha, Kammoun, T., Chabchoub, I., Aloulou, H., Fendri, N., Hachicha, M. & Fakhfakh, F., 2010 Aug, In : Mitochondrion. 10, 5, p. 449-55 7 p.

    Research output: Contribution to journalArticle

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

    Mkaouar-Rebai, E., Kammoun, F., Imen Chamkha, Kammoun, N., Hsairi, I., Triki, C. & Fakhfakh, F., 2010 Jun, In : Journal of Child Neurology. 25, 6, p. 770-5 6 p.

    Research output: Contribution to journalArticle

  24. 2009
  25. 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., Imen Chamkha, Kammoun, F., Kammoun, T., Aloulou, H., Hachicha, M., Triki, C. & Fakhfakh, F., 2009 Jul, In : Molecular Genetics and Metabolism. 97, 3, p. 179-84 6 p.

    Research output: Contribution to journalArticle