Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene
Khabou, Boudour, Tabebi, Mouna, Siala‐Sahnoun, Olfa, Mkaouar‐Rebai, Emna, Rebai, Ahmed, Fakhfakh, Faiza
Published in Annals of human genetics (01.11.2018)
Published in Annals of human genetics (01.11.2018)
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Journal Article
Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men
Siwar, Baklouti-Gargouri, Myriam, Ghorbel, Afif, Ben Mahmoud, Emna, Mkaouar-Rebai, Nozha, Chakroun, Afifa, Sellami, Faiza, Fakhfakh, Leila, Ammar-Keskes
Published in Biochemical and biophysical research communications (18.07.2014)
Published in Biochemical and biophysical research communications (18.07.2014)
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Journal Article
First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene
Felhi, Rahma, Monastiri, Kamel, Ben Hamida, Hayet, Ammar, Marwa, Chioukh, Fatma Zohra, Tabarki, Brahim, Chouchen, Jihene, Fakhfakh, Faiza, Tlili, Abdelaziz, Mkaouar‐Rebai, Emna
Published in International journal of developmental neuroscience (01.12.2022)
Published in International journal of developmental neuroscience (01.12.2022)
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Journal Article
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations
Ammar, Marwa, Safi, Wajdi, Tlili, Abdelaziz, Alila‐Fersi, Olfa, Frikha, Fakher, Chouchen, Jihen, Mnif, Fatma, Kharrat, Marwa, Maalej, Marwa, Felhi, Rahma, Abid, Mohamed, Mnif‐Feki, Mouna, Kacem, Faten Hadj, Fakhfakh, Faiza, Mkaouar‐Rebai, Emna
Published in International journal of developmental neuroscience (01.11.2022)
Published in International journal of developmental neuroscience (01.11.2022)
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Journal Article
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation
Mkaouar-Rebai, Emna, Ammar, Marwa, Sfaihi, Lamia, Alila-Fersi, Olfa, Maalej, Marwa, Felhi, Rahma, Hachicha, Mongia, Fakhfakh, Faiza
Published in Molecular biology reports (01.05.2021)
Published in Molecular biology reports (01.05.2021)
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Journal Article
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
Felhi, Rahma, Charif, Majida, Sfaihi, Lamia, Mkaouar-Rebai, Emna, Desquiret-Dumas, Valerie, Kallel, Rim, Bris, Céline, Goudenège, David, Guichet, Agnès, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Hachicha, Mongia, Fakhfakh, Faiza, Lenaers, Guy
Published in Molecular biology reports (01.05.2020)
Published in Molecular biology reports (01.05.2020)
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Journal Article
A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men
Baklouti-Gargouri, Siwar, Ghorbel, Myriam, Ben Mahmoud, Afif, Mkaouar-Rebai, Emna, Cherif, Meriam, Chakroun, Nozha, Sellami, Afifa, Fakhfakh, Faiza, Ammar-Keskes, Leila
Published in Molecular reproduction and development (01.07.2013)
Published in Molecular reproduction and development (01.07.2013)
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Journal Article
Two novel mutations in COII and tRNAHis mitochondrial genes in asthenozoospermic infertiles men
Siwar, Baklouti-Gargouri, Myriam, Ghorbel, Afif, Ben Mahmoud, Emna, Mkaouar-Rebai, Nozha, Chakroun, Afifa, Sellami, Faiza, Fakhfakh, Leila, Ammar-Keskes
Published in Biochemical and biophysical research communications (18.07.2014)
Published in Biochemical and biophysical research communications (18.07.2014)
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Journal Article
Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes
Alila, Olfa Fersi, Rebai, Emna Mkaouar, Tabebi, Mouna, Tej, Amel, Chamkha, Imen, Tlili, Abdelaziz, Bouguila, Jihene, Tilouche, Samia, Soyah, Nejla, Boughamoura, Lamia, Fakhfakh, Faiza
Published in Mitochondrial DNA. Part A. DNA mapping, sequencing, and analysis (03.07.2016)
Published in Mitochondrial DNA. Part A. DNA mapping, sequencing, and analysis (03.07.2016)
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Journal Article
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, Olfa, Tabebi, Mouna, Maalej, Marwa, Belguith, Neila, Keskes, Leila, Mkaouar-Rebai, Emna, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (18.03.2018)
Published in Biochemical and biophysical research communications (18.03.2018)
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Journal Article
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation
Maalej, Marwa, Sfaihi, Lamia, Ammar, Marwa, Frikha, Fakher, Kharrat, Marwa, Alila-Fersi, Olfa, Mkaouar-Rebai, Emna, Tlili, Abdelaziz, Kammoun, Thouraya, Fakhfakh, Faiza
Published in Neurogenetics (01.10.2022)
Published in Neurogenetics (01.10.2022)
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Journal Article
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome
Maalej, Marwa, Kammoun, Thouraya, Alila-Fersi, Olfa, Kharrat, Marwa, Ammar, Marwa, Felhi, Rahma, Mkaouar-Rebai, Emna, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (18.03.2018)
Published in Biochemical and biophysical research communications (18.03.2018)
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Journal Article
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, Mouna, Mkaouar-Rebai, Emna, Mnif, Mouna, Kallabi, Fakhri, Ben Mahmoud, Afif, Ben Saad, Wafa, Charfi, Nadia, Keskes-Ammar, Leila, Kamoun, Hassen, Abid, Mohamed, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (10.04.2015)
Published in Biochemical and biophysical research communications (10.04.2015)
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Journal Article
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, Olfa, Chamkha, Imen, Majdoub, Imen, Gargouri, Lamia, Mkaouar-Rebai, Emna, Tabebi, Mouna, Tlili, Abdelaziz, Keskes, Leila, Mahfoudh, Abdelmajid, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (26.02.2017)
Published in Biochemical and biophysical research communications (26.02.2017)
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Journal Article
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation
Maalej, Marwa, Kammoun, Fatma, Kharrat, Marwa, Bouchaala, Wafa, Ammar, Marwa, Mkaouar-Rebai, Emna, Triki, Chahnez, Fakhfakh, Faiza
Published in Acta neurologica Belgica (01.12.2021)
Published in Acta neurologica Belgica (01.12.2021)
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Journal Article
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, Najla, Mnif, Mouna, Mkaouar-Rebai, Emna, Kallel, Nozha, Charfi, Nadia, Abid, Mohamed, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (22.02.2013)
Published in Biochemical and biophysical research communications (22.02.2013)
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Journal Article
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene
Felhi, Rahma, Mkaouar-Rebai, Emna, Sfaihi-Ben Mansour, Lamia, Alila-Fersi, Olfa, Tabebi, Mouna, Ben Rhouma, Bochra, Ammar, Marwa, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (22.04.2016)
Published in Biochemical and biophysical research communications (22.04.2016)
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Journal Article
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease
Khabou, Boudour, Siala-Sahnoun, Olfa, Gargouri, Lamia, Mkaouar-Rebai, Emna, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza
Published in Computational biology and chemistry (01.12.2016)
Published in Computational biology and chemistry (01.12.2016)
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