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authIdHal_s : marc-ferre

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.
neurogenetics, 2009, 10 (2), pp.145 - 150. ⟨10.1007/s10048-008-0166-9⟩
Journal articles istex hal-03403277v1

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.
American Journal of Human Genetics, 2014, 95 (6), pp.637 - 48. ⟨10.1016/j.ajhg.2014.10.011⟩
Journal articles hal-03404021v1

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 of Biological Chemistry, 2013, 288 (51), pp.36662 - 75. ⟨10.1074/jbc.M113.466490⟩
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.
BMC Medical Genetics, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩
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.
BMC Research Notes, 2013, 6 (1), pp.427. ⟨10.1186/1756-0500-6-427⟩
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.
Annals of Neurology, 2008, 63 (5), pp.667-71. ⟨10.1002/ana.21376⟩
Journal articles istex inserm-00287509v1

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 of Assisted Reproduction and Genetics, 2014, 31 (2), pp.221 - 7. ⟨10.1007/s10815-013-0141-8⟩
Journal articles hal-03403940v1

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.
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1187-1⟩
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.
BMC Research Notes, 2011, 4 (1), pp.557. ⟨10.1186/1756-0500-4-557⟩
Journal articles inserm-00673659v1

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.
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
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.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.87. ⟨10.1186/1750-1172-6-87⟩
Journal articles inserm-00683147v1

Sensorineural hearing loss in OPA1-linked disorders

Stéphanie Leruez , Dan Milea , Sabine Defoort-Dhellemmes , Estelle Colin , M. Crochet , et al.
Brain - A Journal of Neurology , 2013, 136 (Pt 7), Non spécifié. ⟨10.1093/brain/aws340⟩
Journal articles hal-03404095v1