M. Ferré

发表

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2018, Investigative ophthalmology & visual science.

Hereditary optic neuropathies share a common mitochondrial coupling defect

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2008, Annals of neurology.

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2012, The international journal of biochemistry & cell biology.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

V. Desquiret-Dumas, E. Colin, D. Bonneau, 2014, Brain : a journal of neurology.

Improved Locus‐Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2015, Human mutation.

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Neurobiology of Disease.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Brain : a journal of neurology.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

D. Bonneau, M. Raynaud, T. Lebouvier, 2008, American journal of medical genetics. Part A.

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

D. Milea, P. Gohier, G. Lenaers, 2020, Journal of clinical medicine.

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, neurogenetics.

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2007, Annals of neurology.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

A. Rötig, I. Durand-zaleski, C. Florentz, 2013, Journal of Medical Genetics.

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2009, neurogenetics.

Reversible optic neuropathy with OPA1 exon 5b mutation

D. Wallace, D. Milea, D. Bonneau, 2008, Annals of neurology.

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2011, BMC Research Notes.

Sensorineural hearing loss in OPA1-linked disorders.

M. Larsen, D. Milea, E. Colin, 2013, Brain : a journal of neurology.

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Dan Milea, Johan T den Dunnen, Xavier Zanlonghi, 2019, Orphanet journal of rare diseases.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2017, Journal of cellular and molecular medicine.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

J. Loo, D. Milea, D. Bonneau, 2017, Eye.

OPA1-associated disorders: phenotypes and pathophysiology.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, The international journal of biochemistry & cell biology.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, Human mutation.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

A. Toutain, D. Bonneau, P. Amati‐Bonneau, 2009, Molecular vision.

P. Amati‐Bonneau, P. Reynier, Denis Pierron, 2009, BMC Medical Genetics.

eOPA1: An online database for OPA1 mutations

P. Amati‐Bonneau, P. Reynier, M. Ferré, 2005, Human mutation.

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

L. Pasquier, D. Bonneau, P. Amati‐Bonneau, 2005, Clinical genetics.

Is ABCC6 a genuine mitochondrial protein?

G. Leftheriotis, D. Bonneau, P. Reynier, 2013, BMC Research Notes.

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Human mutation.

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.

S. Schwartz, L. Raffel, M. Ferré, 1991, American journal of medical genetics.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

Spinal muscular atrophy variant with congenital fractures.

T. Prior, M. Ferré, P. Allinson, 1999, American journal of medical genetics.

A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated Orbitopathy

P. Gohier, P. Reynier, M. Ferré, 2022, Journal of clinical medicine.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Scientific data.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Mitochondrion.

Neurotoxicity of Insecticides.

G. Lenaers, P. Reynier, V. Procaccio, 2017, Current medicinal chemistry.

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells*

V. Desquiret-Dumas, D. Bonneau, P. Reynier, 2013, The Journal of Biological Chemistry.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Human mutation.

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

P. Amati‐Bonneau, P. Reynier, V. Procaccio, 2014, Journal of Assisted Reproduction and Genetics.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

D. Bonneau, P. Reynier, V. Procaccio, 2011, Orphanet journal of rare diseases.

P. Amati‐Bonneau, P. Reynier, C. Rocher, 2009, BMC Medical Genetics.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

Mitochondrial diseases preferentially involve proteins with prokaryote homologues.

P. Dessen, P. Reynier, M. Ferré, 2004, Comptes rendus biologies.

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

D. Milea, S. Leruez, M. Ferré, 2018, Graefe's Archive for Clinical and Experimental Ophthalmology.

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

D. Bonneau, P. Reynier, V. Procaccio, 2011, Orphanet journal of rare diseases.

Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning.

P. Reynier, M. Ferré, D. Mirebeau-Prunier, 2021, Clinical chemistry.