Lamia Sfaihi

Sfax, 3029, Tunisia

Last Updated: 09/26/2026

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Found 41 publications

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

Journal: Molecular biology reports

Published: February 20, 2026

Abstracts Association Tunisienne de Médecine Néonatale (ATMN).

Abstracts Association Tunisienne de Médecine Néonatale (ATMN).

Journal: La Tunisie medicale

Published: December 31, 2025

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.

Journal: Journal of molecular neuroscience : MN

Published: October 09, 2025

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.

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.

Journal: Metabolic brain disease

Published: October 31, 2023

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.

Journal: Metabolic brain disease

Published: June 14, 2023

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.

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.

Journal: Metabolic brain disease

Published: May 09, 2023

Miliary tuberculosis mimicking COVID-19 multisystemic inflammatory syndrome in children.

Miliary tuberculosis mimicking COVID-19 multisystemic inflammatory syndrome in children.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: December 03, 2022

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.

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.

Journal: Neurogenetics

Published: May 03, 2022

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.

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.

Journal: Molecular biology reports

Published: December 29, 2020

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.

Journal: Molecular biology reports

Published: February 17, 2020

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.

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.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 01, 2018

Adverse Reactions Due to the Bacillus Calmette-Guerin Vaccine: Twenty Tunisian Cases.

Adverse Reactions Due to the Bacillus Calmette-Guerin Vaccine: Twenty Tunisian Cases.

Journal: Indian journal of dermatology

Published: March 13, 2018

Showing 1-12 of 41

Last Updated: 09/26/2026