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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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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.
Journal articles
inserm-03561254v1
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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.
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.
Journal articles
hal-03719616v1
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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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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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