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Is ABCC6 a genuine mitochondrial protein?
Marc Ferré
,
Pascal Reynier
,
Arnaud Chevrollier
,
Delphine Prunier-Mirebeau
,
Georges Lefthériotis
,
et al.
Journal articles
inserm-00877607v1
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Vincenzo Salpietro
,
Christine Dixon
,
Hui Guo
,
Oscar Bello
,
Jana J Vandrovcova
,
et al.
Journal articles
hal-02577355v1
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Dominant optic atrophy.
Guy Lenaers
,
Christian Hamel
,
Cécile Delettre
,
Patrizia Amati-Bonneau
,
Vincent Procaccio
,
et al.
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.
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.
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.
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.
Journal articles
inserm-01711469v1
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