Wafa Bouchaala

Sfax, Tunisia

Last Updated: 09/26/2026

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Found 12 publications

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.

Journal: Molecular biology reports

Published: July 29, 2025

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Journal: Journal of human genetics

Published: May 20, 2024

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.

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: Journal of human genetics

Published: March 05, 2024

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.

Journal: Journal of human genetics

Published: January 26, 2024

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

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

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: May 26, 2023

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.

Journal: Pediatric neurology

Published: February 11, 2023

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

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

Journal: Multiple sclerosis and related disorders

Published: July 30, 2021

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

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

Journal: Epilepsy & behavior : E&B

Published: April 12, 2021

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Journal: European journal of medical genetics

Published: March 20, 2021

Opsoclonus myoclonus induced by lamotrigine toxicity.

Opsoclonus myoclonus induced by lamotrigine toxicity.

Journal: Seizure

Published: February 22, 2021

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.

Journal: Acta neurologica Belgica

Published: February 03, 2020

Orbital apex syndrome revealing multiple myeloma

Orbital apex syndrome revealing multiple myeloma

Journal: Presse medicale (Paris, France : 1983)

Published: October 07, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026