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Human Mutation|December 18, 2004
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneFabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, et al.
Journal of Molecular Biology|December 14, 2005
Cell-specific regulation of TRBP1 promoter by NF-Y transcription factor in lymphocytes and astrocytesSylvie Bannwarth, Sébastien Lainé, Aïcha Daher, et al.
Muscle & Nerve|July 21, 2016
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathyKonstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, et al.
Molecular Genetics and Metabolism Reports|December 3, 2019
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signsKonstantina Fragaki, Annabelle Chaussenot, Valerie Serre, et al.
BMC Medical Genetics|April 8, 2018
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseasesMorgane Plutino, Annabelle Chaussenot, Cécile Rouzier, et al.
Briefings in Bioinformatics|November 20, 2025
Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAceJustine Labory, Youssef Boulaimen, Jasmine Singh, et al.
Molecular Diagnosis & Therapy|December 13, 2006
Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetesVincent Procaccio, Nicolas Neckelmann, Veronique Paquis-Flucklinger, et al.
Journal of Human Genetics|April 6, 2019
NDUFS6 related Leigh syndrome: a case report and review of the literatureCécile Rouzier, Annabelle Chaussenot, Konstantina Fragaki, et al.
Annales D'Endocrinologie|May 16, 2020
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutationsAnne-Gaëlle Decoux-Poullot, Sylvie Bannwarth, Vincent Procaccio, et al.
Biological Research|January 9, 2016
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexesKonstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, et al.
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