Fakhfakh F - Search Results

1

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: fakhfakh f. 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

2

[Molecular analysis of ten families with Duchenne muscular atrophy].

Fakhfakh F, Mhiri C, Triki C, Ayadi H. Fakhfakh F, et al. Tunis Med. 1996 Mar;74(3):113-8. Tunis Med. 1996. PMID: 9507291 French. No abstract available.

3

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. Louhichi N, et al. Among authors: fakhfakh f. Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2. Neurogenetics. 2004. PMID: 14652796 Free PMC article.

4

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

5

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Siala O, Louhichi N, Triki C, Morinière M, Rebai A, Richard P, Guicheney P, Baklouti F, Fakhfakh F. Siala O, et al. Among authors: fakhfakh f. Genet Test. 2007 Fall;11(3):199-207. doi: 10.1089/gte.2006.0517. Genet Test. 2007. PMID: 17949279

6

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.

Siala O, Louhichi N, Triki C, Morinière M, Fakhfakh F, Baklouti F. Siala O, et al. Among authors: fakhfakh f. Neuromuscul Disord. 2008 Feb;18(2):137-45. doi: 10.1016/j.nmd.2007.09.003. Epub 2007 Nov 28. Neuromuscul Disord. 2008. PMID: 18053718

7

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

Siala O, Kammoun Feki F, Louhichi N, Hadj Salem I, Gribaa M, Elghzel H, Saad A, Triki C, Fakhfakh F. Siala O, et al. Among authors: fakhfakh f. Genet Test. 2008 Dec;12(4):581-6. doi: 10.1089/gte.2008.0061. Genet Test. 2008. PMID: 19072569

8

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.

Fendri-Kriaa N, Kammoun F, Rebai A, Kolsi D, Hadj Salem I, Fakhfakh F, Triki C. Fendri-Kriaa N, et al. Among authors: fakhfakh f. Eur J Neurol. 2009 Jun;16(6):697-704. doi: 10.1111/j.1468-1331.2009.02570.x. Epub 2009 Feb 19. Eur J Neurol. 2009. PMID: 19236456

9

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Among authors: fakhfakh f. Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076. Genet Test Mol Biomarkers. 2009. PMID: 19309283

10

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

Mkaouar-Rebai E, Chamkha I, Kammoun F, Kammoun T, Aloulou H, Hachicha M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: fakhfakh f. Mol Genet Metab. 2009 Jul;97(3):179-84. doi: 10.1016/j.ymgme.2009.03.003. Epub 2009 Mar 16. Mol Genet Metab. 2009. PMID: 19349200

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