Publications by authors named "Felhi Rahma"

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A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.
Felhi Rahma, Alila-Fersi Olfa, Bahri Mahjoub, Mkaouar-Rebai Emna, Chouchen Jihene

Mol Biol Rep· July 2025

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Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.
Marwa Ammar, Sana Kmiha, Marwa Maalej, Rahma Felhi, Marwa Kharrat

Ann Hematol· February 2025

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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.
Marwa Maalej, Lamia Sfaihi, Olfa-Alila Fersi, Boudour Khabou, Marwa Ammar, Rahma Felhi

Metab Brain Dis· April 2024

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Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Rahma Felhi, Lamia Sfaihi, Majida Charif, Fakher Frikha, Nissaf Aoiadni

Metab Brain Dis· October 2023

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First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Rahma Felhi, Kamel Monastiri, Hayet Ben Hamida, Marwa Ammar, Fatma Zohra Chioukh

Int J Dev Neurosci· December 2022

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A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
Marwa Ammar, Wajdi Safi, Abdelaziz Tlili, Olfa Alila-Fersi, Fakher Frikha, Rahma Felhi

Int J Dev Neurosci· November 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.
Emna Mkaouar-Rebai, Marwa Ammar, Lamia Sfaihi, Olfa Alila-Fersi, Marwa Maalej, Rahma Felhi

Mol Biol Rep· May 2021

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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes

Mol Genet Genomic Med· July 2020

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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Rahma Felhi, Majida Charif, Lamia Sfaihi, Emna Mkaouar-Rebai, Valerie Desquiret-Dumas

Mol Biol Rep· May 2020

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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Rahma Felhi, Lamia Sfaihi, Majida Charif, Valerie Desquiret-Dumas, Céline Bris

Clin Chim Acta· January 2019

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Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Marwa Maalej, Thouraya Kammoun, Olfa Alila-Fersi, Marwa Kharrat, Marwa Ammar, Rahma Felhi

Biochem Biophys Res Commun· March 2018

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Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Rahma Felhi

Biochem Biophys Res Commun· January 2018

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Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Fakhri Kallabi, Bochra Ben Rhouma, Siwar Baklouti, Rania Ghorbel, Rahma Felhi

Horm Res Paediatr· April 2017

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Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Fakhri Kallabi, Imen Ben Rebeh, Rahma Felhi, Dorra Sellami, Saber Masmoudi

Horm Res Paediatr· October 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.
Marwa Ammar, Mouna Tabebi, Lamia Sfaihi, Olfa Alila-Fersi, Marwa Maalej, Rahma Felhi

Biochem Biophys Res Commun· June 2016

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A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Fakhri Kallabi, Ghada Ben Salah, Amel Ben Chehida, Mouna Tabebi, Rahma Felhi

Biochem Cell Biol· June 2016

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Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Rahma Felhi, Emna Mkaouar-Rebai, Lamia Sfaihi-Ben Mansour, Olfa Alila-Fersi, Mouna Tabebi

Biochem Biophys Res Commun· April 2016

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Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Emna Mkaouar-Rebai, Rahma Felhi, Mouna Tabebi, Olfa Alila-Fersi, Imen Chamkha

Biochem Biophys Res Commun· April 2016

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