Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 2
2013 1
2016 4
2017 2
2018 2
2020 2
2021 1
2022 3
2023 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
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
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
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 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
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
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: fersi oa. 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
19 results