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Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Julien Cassereau
,
Arnaud Chevrollier
,
Naïg Gueguen
,
Marie-Claire Malinge
,
Franck Letournel
,
et al.
Journal articles
istex
hal-03403277v1
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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin
,
Huynh Cong
,
G. Mollet
,
Agnés Guichet
,
O. Gribouval
,
et al.
Journal articles
hal-03404021v1
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Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells
Valérie Desquiret-Dumas
,
Naïg Gueguen
,
Géraldine Leman
,
Stephanie Baron
,
Valerie Nivet-Antoine
,
et al.
Journal articles
hal-03404098v1
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OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.
Denis Pierron
,
Marc Ferré
,
Christophe Rocher
,
Arnaud Chevrollier
,
Pascal Murail
,
et al.
Journal articles
inserm-00663623v1
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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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Reversible optic neuropathy with OPA1 exon 5b mutation.
Karen Cornille
,
Dan Milea
,
Patrizia Amati-Bonneau
,
Vincent Procaccio
,
Lydie Zazoun
,
et al.
Journal articles
istex
inserm-00287509v1
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Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?
Marc Ferré
,
Patrizia Amati-Bonneau
,
C. Moriniere
,
Véronique Ferré-L’hotellier
,
S. Lemerle
,
et al.
Journal articles
hal-03403940v1
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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Bastien Le Roux
,
Guy Lenaers
,
Xavier Zanlonghi
,
Patrizia Amati-Bonneau
,
Floris Chabrun
,
et al.
Journal articles
hal-02388214v1
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Analyse bio-informatique du protéome mitochondrial et du spectre des mutations de la protéine Opa1
Marc Ferré
Biologie cellulaire. Université d'Angers, 2009. Français. ⟨NNT : ⟩
Theses
tel-00457327v1
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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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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Marc Ferré
,
Dominique Bonneau
,
Dan Milea
,
Arnaud Chevrollier
,
Christophe Verny
,
et al.
Journal articles
inserm-00372261v1
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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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Sensorineural hearing loss in OPA1-linked disorders
Stéphanie Leruez
,
Dan Milea
,
Sabine Defoort-Dhellemmes
,
Estelle Colin
,
M. Crochet
,
et al.
Journal articles
hal-03404095v1
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