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Genetic susceptibility to optic neuropathy in patients with alcohol use disorder
Camille Delibes
,
Marc Ferré
,
Marine Rozet
,
Valérie Desquiret-Dumas
,
Alexis Descatha
et al.
Article dans une revue
hal-04605126
v1
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Aude Rocatcher
,
Valérie Desquiret-Dumas
,
Majida Charif
,
Marc Ferré
,
Philippe Gohier
et al.
Article dans une revue
hal-04959530
v1
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Aude Rocatcher
,
Valérie Desquiret-Dumas
,
Majida Charif
,
Marc Ferré
,
Philippe Gohier
et al.
Article dans une revue
hal-04320695
v1
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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
Benjamin Billiet
,
Patrizia Amati-Bonneau
,
Valérie Desquiret-Dumas
,
Khadidja Guehlouz
,
Dan Milea
et al.
Article dans une revue
hal-03861098
v1
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ACO2 clinicobiological dataset with extensive phenotype ontology annotation
Khadidja Guehlouz
,
Thomas Foulonneau
,
Patrizia Amati-Bonneau
,
Majida Charif
,
Estelle Colin
et al.
Article dans une revue
hal-03861114
v1
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A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies
Juan Manuel Chao de La Barca
,
Barnabé Rondet-Courbis
,
Marc Ferré
,
Jeanne Muller
,
Adrien Buisset
et al.
Article dans une revue
hal-02543202
v1
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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.
Article dans une revue
hal-02388214
v1
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Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Bastien Le Roux
,
Guy Lenaers
,
Xavier Zanlonghi
,
Patrizia Amati-Bonneau
,
Floris Chabrun
et al.
Article dans une revue
hal-02975361
v1
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A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders
Cinzia Bocca
,
Judith Nzoughet
,
Stéphanie Leruez
,
Patrizia Amati-Bonneau
,
Marc Ferré
et al.
Article dans une revue
hal-01964499
v1
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Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
J Ebran
,
Ludovic Martin
,
Nastassia Navasiolava
,
Marc Ferré
,
Dan Milea
et al.
Graefe's Archive for Clinical and Experimental Ophthalmology, 2018, 256, pp.699-707
Article dans une revue
hal-02104309
v1
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Multiethnic involvement in autosomal-dominant optic atrophy in Singapore
J Loo
,
S Singhal
,
A Rukmini
,
S Tow
,
Patrizia Amati-Bonneau
et al.
Article dans une revue
hal-02104157
v1
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Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice
Juan Manuel Chao de la Barca
,
Gilles Simard
,
Emmanuelle Sarzi
,
Tanguy Chaumette
,
Guillaume Rousseau
et al.
Article dans une revue
hal-01784466
v1
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The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress
Juan Manuel Chao de La Barca
,
Gilles Simard
,
Patrizia Amati-Bonneau
,
Zainab Safiedeen
,
Delphine Mirebeau-Prunier
et al.
Article dans une revue
hal-02103390
v1
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OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
Juan Manuel Chao de La Barca
,
Delphine Mirebeau-Prunier
,
Patrizia Amati-Bonneau
,
Marc Ferré
,
Emmanuelle Sarzi
et al.
Article dans une revue
istex
hal-01392230
v1
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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Dominique Bonneau
,
Estelle Colin
,
Florine Oca
,
Marc Ferré
,
Arnaud Chevrollier
et al.
Article dans une revue
hal-03403967
v1
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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.
Article dans une revue
hal-03404021
v1
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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.
Article dans une revue
hal-03403940
v1
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Sensorineural hearing loss in OPA1-linked disorders
Stéphanie Leruez
,
Dan Milea
,
Sabine Defoort-Dhellemmes
,
Estelle Colin
,
M. Crochet
et al.
Article dans une revue
hal-03404095
v1
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Is ABCC6 a genuine mitochondrial protein?
Marc Ferré
,
Pascal Reynier
,
Arnaud Chevrollier
,
Delphine Prunier-Mirebeau
,
Georges Lefthériotis
et al.
Article dans une revue
inserm-00877607
v1
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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.
Article dans une revue
hal-03404098
v1
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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Sylvie Bannwarth
,
Vincent Procaccio
,
Anne-Sophie Lebre
,
Claude Jardel
,
A. Chaussenot
et al.
Article dans une revue
hal-03404064
v1
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Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function
Arnaud Chevrollier
,
Julien Cassereau
,
Marc Ferré
,
Jennifer Alban
,
Valérie Desquiret-Dumas
et al.
Article dans une revue
istex
hal-03404105
v1
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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.
Article dans une revue
inserm-00673659
v1
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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.
Article dans une revue
inserm-00683147
v1
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Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
Christophe Verny
,
Naïg Gueguen
,
Valérie Desquiret-Dumas
,
Arnaud Chevrollier
,
Adriana Prundean
et al.
Article dans une revue
istex
hal-03408492
v1
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Les atrophies optiques héréditaires
Clarisse Scherer
,
Vincent Procaccio
,
Marc Ferré
,
Virginie Guillet
,
Pascal Reynier
et al.
Article dans une revue
hal-03408477
v1
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Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease
Virginie Guillet
,
Naïg Gueguen
,
Christophe Verny
,
Marc Ferré
,
Chadi Homedan
et al.
Article dans une revue
istex
hal-03406912
v1
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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.
Article dans une revue
inserm-00663623
v1
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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.
Article dans une revue
istex
hal-03403277
v1
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Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect
Yannick Nochez
,
Sophie Arsene
,
Naïg Gueguen
,
Arnaud Chevrollier
,
Marc Ferré
et al.
Molecular Vision, 2009, 15, pp.598 - 608
Article dans une revue
hal-03406919
v1
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OPA1-associated disorders: Phenotypes and pathophysiology
Patrizia Amati-Bonneau
,
Dan Milea
,
Dominique Bonneau
,
Arnaud Chevrollier
,
Marc Ferré
et al.
Article dans une revue
istex
hal-03406909
v1
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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.
Article dans une revue
inserm-00372261
v1
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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.
Article dans une revue
istex
inserm-00287509
v1
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Hereditary optic neuropathies share a common mitochondrial coupling defect.
Arnaud Chevrollier
,
Virginie Guillet
,
Dominique Loiseau
,
Naïg Gueguen
,
Marie-Anne Pou de Crescenzo
et al.
Article dans une revue
istex
hal-00282865
v1
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