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Expert Review of Molecular Diagnostics|September 9, 2020
Improving post-natal detection of mitochondrial DNA mutationsGiulia Barcia, Zahra Assouline, Maryse Magen, et al.
Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodMetodi D Metodiev, Zahra Assouline, Pierre Landrieu, et al.
Molecular Genetics and Metabolism Reports|August 30, 2019
Expanding the clinical spectrum of MTTF mutationsGiulia Barcia, Zahra Assouline, Alessandra Pennisi, et al.
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
Molecular Genetics and Metabolism|November 13, 2012
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndromeCoralie Haudry, Pascale de Lonlay, Valerie Malan, et al.
Neuromuscular Disorders : NMD|July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiencyGiulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhoodMarie Collet, Zahra Assouline, Damien Bonnet, et al.
Human Mutation|July 26, 2011
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathyLouise Galmiche, Valérie Serre, Marine Beinat, et al.
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