Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity
Maalej, Marwa, Sfaihi, Lamia, Fersi, Olfa-Alila, Khabou, Boudour, Ammar, Marwa, Felhi, Rahma, Kharrat, Marwa, Chouchen, Jihen, Kammoun, Thouraya, Tlili, Abdelaziz, Fakhfakh, Faiza
Published in Metabolic brain disease (01.04.2024)
Published in Metabolic brain disease (01.04.2024)
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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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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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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations
Alila-Fersi, Olfa, Aloulou, Hajer, Werteni, Ines, Mahfoudh, Nadia, Chabchoub, Imen, Kammoun, Hassen, Keskes, Leila, Hachicha, Mongia, Belguith, Neila, Fakhfakh, Faiza
Published in Journal of molecular neuroscience (01.07.2020)
Published in Journal of molecular neuroscience (01.07.2020)
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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
Tabebi, Mouna, Safi, Wajdi, Felhi, Rahma, Alila Fersi, Olfa, Keskes, Leila, Abid, Mohamed, Mnif, Mouna, Fakhfakh, Faiza
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene
Alila-Fersi, Olfa, Tej, Amel, Maalej, Marwa, Kharrat, Marwa, Boughamoura, Lamia, Chouchen, Jihen, Tlili, Abdelaziz, Fakhfakh, Faiza
Published in Gene (01.07.2024)
Published in Gene (01.07.2024)
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A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
Aguech, Ameni, Sfaihi, Lamia, Alila-Fersi, Olfa, Kolsi, Roeya, Tlili, Abdelaziz, Kammoun, Thouraya, Fendri, Ahmed, Fakhfakh, Faiza
Published in Metabolic brain disease (01.12.2023)
Published in Metabolic brain disease (01.12.2023)
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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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A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity
Kharrat, Marwa, Issa, Abir Ben, Tlili, Abdelaziz, Jallouli, Olfa, Alila-Fersi, Olfa, Maalej, Marwa, Chouchen, Jihen, Ghouylia, Yosra, Kamoun, Fatma, Triki, Chahnez, Fakhfakh, Faiza
Published in Journal of molecular neuroscience (01.10.2023)
Published in Journal of molecular neuroscience (01.10.2023)
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Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein
Kharrat, Marwa, Triki, Chahnez Charfi, Alila-Fersi, Olfa, Jallouli, Olfa, khemakham, Bassem, Mallouli, Salma, Maalej, Marwa, Ammar, Marwa, frikha, Fakher, Kamoun, Fatma, Fakhfakh, Faiza
Published in Journal of molecular neuroscience (01.08.2022)
Published in Journal of molecular neuroscience (01.08.2022)
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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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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
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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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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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, Marwa, Tabebi, Mouna, Sfaihi, Lamia, Alila-Fersi, Olfa, Maalej, Marwa, Felhi, Rahma, Chabchoub, Imen, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza, Mkaouar-Rebai, Emna
Published in Biochemical and biophysical research communications (10.06.2016)
Published in Biochemical and biophysical research communications (10.06.2016)
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Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241 T > G mutation
Tabebi, Mouna, Charfi, Nadia, Kallabi, Fakhri, Alila-Fersi, Olfa, Mahmoud, Afif Ben, Tlili, Abdelaziz, Keskes-Ammar, Leila, Kamoun, Hassen, Abid, Mohamed, Mnif, Mouna, Fakhfakh, Faiza
Published in Journal of diabetes and its complications (01.01.2017)
Published in Journal of diabetes and its complications (01.01.2017)
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Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
Mkaouar-Rebai, Emna, Felhi, Rahma, Tabebi, Mouna, Alila-Fersi, Olfa, Chamkha, Imen, Maalej, Marwa, Ammar, Marwa, Kammoun, Fatma, Keskes, Leila, Hachicha, Mongia, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (29.04.2016)
Published in Biochemical and biophysical research communications (29.04.2016)
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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 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, Emna, Chamkha, Imen, Kammoun, Thouraya, Alila-Fersi, Olfa, Aloulou, Hajer, Hachicha, Mongia, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (11.01.2013)
Published in Biochemical and biophysical research communications (11.01.2013)
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