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Neurology and Therapy|May 23, 2015
A prospective study of patients with brain MRI showing incidental t2 hyperintensities addressed as multiple sclerosis: a lot of work to do before treatingChristine Lebrun, Mikael Cohen, Annabelle Chaussenot, et al.
Molecular Genetics and Metabolism|May 23, 2017
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutationKonstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, et al.
European Journal of Human Genetics : EJHG|May 16, 2024
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformationsAnnabelle Chaussenot, Xavier Ayrignac, Nicolas Chatron, et al.
Molecular Genetics and Metabolism Reports|December 3, 2019
A novel variant m.8561C>T in the overlapping region of <i>MT-ATP6</i> and <i>MT-ATP8</i> 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.
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.
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.
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.
Annals of Neurology|March 30, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndromeAnnabelle Chaussenot, Sylvie Bannwarth, Cecile Rouzier, et al.
Genes|December 23, 2023
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic InvestigationsMounir Serag, Morgane Plutino, Perrine Charles, et al.
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