검색결과 : 6건
| No. | Article |
|---|---|
| 1 |
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 Biochemical and Biophysical Research Communications, 484(1), 71, 2017 |
| 2 |
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 Biochemical and Biophysical Research Communications, 473(2), 578, 2016 |
| 3 |
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 Mkaouar-Rebai E, Chamkha I, Kammoun T, Alila-Fersi O, Aloulou H, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 430(2), 585, 2013 |
| 4 |
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 Biochemical and Biophysical Research Communications, 429(1-2), 31, 2012 |
| 5 |
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 Biochemical and Biophysical Research Communications, 404(1), 504, 2011 |
| 6 |
A Tunisian patient with Pearson syndrome harboring the 4.977 kb common deletion associated to two novel large-scale mitochondrial deletions Ben Ayed I, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 411(2), 381, 2011 |