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Is ABCC6 a genuine mitochondrial protein?

Marc Ferré , Pascal Reynier , Arnaud Chevrollier , Delphine Prunier-Mirebeau , Georges Lefthériotis , et al.
BMC Research Notes, 2013, 6 (1), pp.427. ⟨10.1186/1756-0500-6-427⟩
Journal articles inserm-00877607v1

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro , Christine Dixon , Hui Guo , Oscar Bello , Jana J Vandrovcova , et al.
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Journal articles hal-02577355v1
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Dominant optic atrophy.

Guy Lenaers , Christian Hamel , Cécile Delettre , Patrizia Amati-Bonneau , Vincent Procaccio , et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.46. ⟨10.1186/1750-1172-7-46⟩
Journal articles inserm-00767364v1
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Claire Angebault , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Virginie Guillet , et al.
BMC Research Notes, 2011, 4 (1), pp.557. ⟨10.1186/1756-0500-4-557⟩
Journal articles inserm-00673659v1
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Julien Cassereau , Arnaud Chevrollier , Dominique Bonneau , Christophe Verny , Vincent Procaccio , et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.87. ⟨10.1186/1750-1172-6-87⟩
Journal articles inserm-00683147v1
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Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

Céline Bris , David Goudenège , Valérie Desquiret-Dumas , Majida Charif , Estelle Colin , et al.
Frontiers in Genetics, 2018, 9, pp.632. ⟨10.3389/fgene.2018.00632⟩
Journal articles hal-02388221v1
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Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

Stéphanie Leruez , Christophe Verny , Dominique Bonneau , Vincent Procaccio , Guy Lenaers , et al.
Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.33. ⟨10.1186/s13023-018-0773-y⟩
Journal articles inserm-01711469v1