검색결과 : 23건
| No. | Article |
|---|---|
| 1 |
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 497(4), 1043, 2018 |
| 2 |
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy Alila-Fersi O, Tabebi M, Maalej M, Belguith N, Keskes L, Mkaouar-Rebai E, Fakhfakh F Biochemical and Biophysical Research Communications, 497(4), 1049, 2018 |
| 3 |
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation Ghorbel R, Ghorbel R, Rouissi A, Fendri-Kriaa N, Ben Salah G, Belguith N, Ammar-Keskes L, Gouider-Khouja N, Fakhfakh F Biochemical and Biophysical Research Communications, 497(1), 93, 2018 |
| 4 |
Clinical, Molecular, and Computational Analysis in two cases with Checkfor mitochondrial encephalomyopathy associated with SUCLGI mutation in a consanguineous family Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F Biochemical and Biophysical Research Communications, 495(2), 1730, 2018 |
| 5 |
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 |
| 6 |
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F Biochemical and Biophysical Research Communications, 473(1), 61, 2016 |
| 7 |
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 |
| 8 |
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene Ammar M, Tabebi M, Sfaihi L, Alila-Fersi O, Maalej M, Felhi R, Chabchoub I, Keskes L, Hachicha M, Fakhfakh F, Mkaouar-Rebai E Biochemical and Biophysical Research Communications, 474(4), 702, 2016 |
| 9 |
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 sever 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 Biochemical and Biophysical Research Communications, 459(3), 353, 2015 |
| 10 |
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 |