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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
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , et al.
International Journal of Molecular Sciences, 2022, 23 (3), pp.1815. ⟨10.3390/ijms23031815⟩
Journal articles inserm-03561254v1

Les tests génétiques à l'heure de la deuxième révision des lois de bioéthique. [Genetic testing in the context of the revision of the French law on bioethics].

Dominique Bonneau , Sandrine Marlin , Damien Sanlaville , Jean-Michel Dupont , Hagay Sobol , et al.
Pathologie Biologie, 2010, 58 (5), pp.396-401. ⟨10.1016/j.patbio.2009.12.002⟩
Journal articles istex inserm-00461832v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon , et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1
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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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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