Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

by Sami Bouchoucha, Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Hamza Dallali, Maleke Khammessi, Sonia Abdelhak, Nabil Nessibe, Mohammad Shboul, Susanne G. Kircher, Ali Al Kaissi, Ali Al Kaissi, Houda Yacoub-Youssef
Published 2020-04-01

AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy

by Gaëtan Juban, Marielle Saclier, Houda Yacoub-Youssef, Amel Kernou, Ludovic Arnold, Camille Boisson, Sabrina Ben Larbi, Mélanie Magnan, Sylvain Cuvellier, Marine Théret, Basil J. Petrof, Isabelle Desguerre, Julien Gondin, Rémi Mounier, Bénédicte Chazaud
Published 2018-11-01

Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

by Mariem Ben Rekaya, Manel Jerbi, Olfa Messaoud, Ahlem Sabrine Ben Brick, Mohamed Zghal, Chiraz Mbarek, Ashraf Chadli-Debbiche, Meriem Jones, Mourad Mokni, Hamouda Boussen, Mohamed Samir Boubaker, Becima Fazaa, Houda Yacoub-Youssef, Sonia Abdelhak
Published 2013-01-01

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

by Mariem Ben Rekaya, Nadia Laroussi, Olfa Messaoud, Mariem Jones, Manel Jerbi, Chokri Naouali, Yosra Bouyacoub, Mariem Chargui, Rym Kefi, Becima Fazaa, Mohamed Samir Boubaker, Hamouda Boussen, Mourad Mokni, Sonia Abdelhak, Mohamed Zghal, Aida Khaled, Houda Yacoub-Youssef
Published 2014-01-01

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

by Asma Chikhaoui, Sahar Elouej, Sahar Elouej, Imen Nabouli, Meriem Jones, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Yosr Hamdi, Mohamed Zghal, Valerie Delague, Nicolas Levy, Nicolas Levy, Annachiara De Sandre-Giovannoli, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Published 2019-02-01

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

by Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, Sahar Elouej, Sahar Elouej, Meriem Jones, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Mohamed Zghal, Valerie Delague, Nicolas Levy, Nicolas Levy, Annachiara De Sandre-Giovannoli, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Published 2021-05-01