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May home cardiorespiratory polygraphy be considered a realistic alternative to polysomnography for catathrenia screening?

Sleep medicine. X, 2024-12, Vol.7, p.100097-100097, Article 100097

2024

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Narcolepsy

Tunisie Medicale, 2008-12, Vol.86 (12), p.1042

2008

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Development of an in-house quantitative ELISA for the evaluation of different Covid-19 vaccines in humans

Scientific reports, 2022-07, Vol.12 (1), p.11298-11298, Article 11298

2022

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Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability

International journal of developmental neuroscience, 2024-02, Vol.84 (1), p.35-46

2024

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First report of Tunisian patients with CDKL5‐related encephalopathy

Epilepsia open, 2024-06, Vol.9 (3), p.906-917

2024

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Valeur prédictive des potentiels évoqués auditifs précoces dans l’évolution des encéphalopathies infantiles

Revue neurologique, 2023-04, Vol.179, p.S62-S63

2023

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Apport du potentiel évoqué flash dans l’exploration des encéphalopathies infantiles

Revue neurologique, 2023-04, Vol.179, p.S79-S79

2023

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Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia

Epilepsy & behavior, 2021-09, Vol.122, p.108151-108151, Article 108151

2021

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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

Journal of human genetics, 2024-07

2024

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A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.317-317, Article 317

2021

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A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature

International journal of developmental neuroscience, 2023-06, Vol.83 (4), p.383-395

2023

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Mutations dans le gène FOXG1 chez deux patients atteints du syndrome de Rett congénital : étude génétique et analyse in Silico

Revue neurologique, 2022-04, Vol.178, p.S47-S48

2022

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Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease

Journal of the neurological sciences, 2021-10, Vol.429, p.119364, Article 119364

2021

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Peripheral neuropathy due to mitochondrial disorders in pediatric patients

Journal of the neurological sciences, 2021-10, Vol.429, p.119365, Article 119365

2021

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Synergistic effect of polysaccharides, betalain pigment and phenolic compounds of red prickly pear (Opuntia stricta) in the stabilization of salami

International journal of biological macromolecules, 2018-05, Vol.111, p.561-568

2018

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Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

International journal of developmental neuroscience, 2023-10, Vol.83 (6), p.532-545

2023

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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy

Epilepsia open, 2024-07

2024

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Retrospective Analysis of Clinical Characteristics and Disease Outcomes in Children and Adolescents Hospitalized Due to COVID-19 Infection in Tunisia

Viruses, 2024-05, Vol.16 (5), p.779

2024

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SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1081-1090

2021

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Les conductions nerveuses motrices et sensitives des membres inférieurs chez l’enfant : valeurs normales

Revue neurologique, 2021-04, Vol.177, p.S58-S59

2021

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Opsoclonus myoclonus induced by lamotrigine toxicity

Seizure (London, England), 2021-10, Vol.91, p.247-250

2021

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Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital

Multiple sclerosis and related disorders, 2021-11, Vol.56, p.103291-103291, Article 103291

2021

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Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region

Frontiers in neurology, 2023-03, Vol.14, p.1092887

2023

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8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1811-n/a

2021

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May home cardiorespiratory polygraphy be considered a realistic alternative to polysomnography for catathrenia screening?

Narcolepsy

Development of an in-house quantitative ELISA for the evaluation of different Covid-19 vaccines in humans

Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability

First report of Tunisian patients with CDKL5‐related encephalopathy

Valeur prédictive des potentiels évoqués auditifs précoces dans l’évolution des encéphalopathies infantiles

Apport du potentiel évoqué flash dans l’exploration des encéphalopathies infantiles

Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

Molecular Epidemiology of SARS-CoV-2 in Tunisia (North Africa) through Several Successive Waves of COVID-19

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature

Mutations dans le gène FOXG1 chez deux patients atteints du syndrome de Rett congénital : étude génétique et analyse in Silico

Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease

Peripheral neuropathy due to mitochondrial disorders in pediatric patients

Synergistic effect of polysaccharides, betalain pigment and phenolic compounds of red prickly pear (Opuntia stricta) in the stabilization of salami

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy

Retrospective Analysis of Clinical Characteristics and Disease Outcomes in Children and Adolescents Hospitalized Due to COVID-19 Infection in Tunisia

SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

Les conductions nerveuses motrices et sensitives des membres inférieurs chez l’enfant : valeurs normales

Opsoclonus myoclonus induced by lamotrigine toxicity

Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

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