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Year Number of Results
2012 2
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2016 4
2017 2
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Page 1
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 M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F. Maalej M, et al. Among authors: alila fersi o. Neurogenetics. 2022 Oct;23(4):257-270. doi: 10.1007/s10048-022-00696-3. Epub 2022 Jul 11. Neurogenetics. 2022. PMID: 35819538
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 M, Triki CC, Alila-Fersi O, Jallouli O, Khemakham B, Mallouli S, Maalej M, Ammar M, Frikha F, Kamoun F, Fakhfakh F. Kharrat M, et al. Among authors: alila fersi o. J Mol Neurosci. 2022 Aug;72(8):1695-1705. doi: 10.1007/s12031-022-02032-8. Epub 2022 Jun 2. J Mol Neurosci. 2022. PMID: 35654936
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 A, Sfaihi L, Alila-Fersi O, Kolsi R, Tlili A, Kammoun T, Fendri A, Fakhfakh F. Aguech A, et al. Among authors: alila fersi o. Metab Brain Dis. 2023 Dec;38(8):2665-2678. doi: 10.1007/s11011-023-01276-6. Epub 2023 Sep 1. Metab Brain Dis. 2023. PMID: 37656370
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
Ammar M, Safi W, Tlili A, Alila-Fersi O, Frikha F, Chouchen J, Mnif F, Kharrat M, Maalej M, Felhi R, Abid M, Mnif-Feki M, Kacem FH, Fakhfakh F, Mkaouar-Rebai E. Ammar M, et al. Among authors: alila fersi o. Int J Dev Neurosci. 2022 Nov;82(7):626-638. doi: 10.1002/jdn.10215. Epub 2022 Jul 25. Int J Dev Neurosci. 2022. PMID: 35841120
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. Alila-Fersi O, et al. Biochem Biophys Res Commun. 2018 Mar 18;497(4):1049-1054. doi: 10.1016/j.bbrc.2018.02.173. Epub 2018 Feb 23. Biochem Biophys Res Commun. 2018. PMID: 29481798
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 M, Issa AB, Tlili A, Jallouli O, Alila-Fersi O, Maalej M, Chouchen J, Ghouylia Y, Kamoun F, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: alila fersi o. J Mol Neurosci. 2023 Oct;73(9-10):853-864. doi: 10.1007/s12031-023-02163-6. Epub 2023 Oct 10. J Mol Neurosci. 2023. PMID: 37817054
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. Felhi R, et al. Among authors: alila fersi o. Biochem Biophys Res Commun. 2016 Apr 22;473(1):61-66. doi: 10.1016/j.bbrc.2016.03.050. Epub 2016 Mar 16. Biochem Biophys Res Commun. 2016. PMID: 26993169
19 results