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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 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: chouchen j. 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
Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.
Mahfood M, Chouchen J, Kamal Eddine Ahmad Mohamed W, Al Mutery A, Harati R, Tlili A. Mahfood M, et al. Among authors: chouchen j. Saudi J Biol Sci. 2021 Aug;28(8):4421-4429. doi: 10.1016/j.sjbs.2021.04.036. Epub 2021 Apr 20. Saudi J Biol Sci. 2021. PMID: 34354426 Free PMC article.
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: chouchen j. 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
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 M, Sfaihi L, Fersi OA, Khabou B, Ammar M, Felhi R, Kharrat M, Chouchen J, Kammoun T, Tlili A, Fakhfakh F. Maalej M, et al. Among authors: chouchen j. Metab Brain Dis. 2024 Apr;39(4):611-623. doi: 10.1007/s11011-024-01343-6. Epub 2024 Feb 16. Metab Brain Dis. 2024. PMID: 38363494