P. Amati‐Bonneau

J. Martinou, D. Bonneau, P. Amati‐Bonneau, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

MFN2, a new gene responsible for mitochondrial DNA depletion.

P. Amati‐Bonneau, P. Reynier, D. Rodriguez, 2012, Brain : a journal of neurology.

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2021, Frontiers in Neurology.

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

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

Reversible optic neuropathy with OPA1 exon 5b mutation

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

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of Medical Genetics.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

A. Munnich, S. Hanein, P. Amati‐Bonneau, 2016, Journal of Medical Genetics.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American Journal of Human Genetics.

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Diabetes & metabolism.

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.

Warburg-like effect is a hallmark of complex I assembly defects.

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Majida Charif, P. Amati‐Bonneau, G. Lenaers, 2020, Retina.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2018, European Journal of Human Genetics.

Clinical utility gene card for Jurkute , Neringa 2019-03

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2022 .

Never too old to harbour a young man's disease?

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2010, British Journal of Ophthalmology.

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

L. Pasquier, D. Bonneau, P. Amati‐Bonneau, 2003, American journal of ophthalmology.

Perspectives of drug-based neuroprotection targeting mitochondria.

C. Bris, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Brain : a journal of neurology.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

M. Picot, P. Amati‐Bonneau, G. Lenaers, 2015, Journal of the Neurological Sciences.

Sensorineural hearing loss in OPA1-linked disorders.

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

Heterozygous OPA1 mutations in Behr syndrome.

A. Durr, A. Brice, G. Stevanin, 2011, Brain : a journal of neurology.

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

C. Drissi, C. Bris, D. Goudenège, 2022, Bioscience reports.

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.

C. Annweiler, D. Milea, P. Gohier, 2019, Journal of proteome research.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

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.

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

D. Bonneau, P. Amati‐Bonneau, G. Lenaers, 2018, Scientific Reports.

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.

Mitochondrial dysfunction affecting visual pathways.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2014, Revue neurologique.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Genetically determined optic neuropathies.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2010, Current opinion in neurology.

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.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

V. Mils, D. Bonneau, P. Amati‐Bonneau, 2007, Journal of cellular physiology.

[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers].

P. Amati‐Bonneau, C. Dot, R. Macarez, 2007, Journal francais d'ophtalmologie.

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.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2019, Clinica chimica acta; international journal of clinical chemistry.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

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.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

J. Morissette, D. Lacombe, D. Bonneau, 2004, Archives of ophthalmology.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Molecular Biology Reports.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

F. Bombelli, A. Brice, P. Amati‐Bonneau, 2014, JAMA neurology.

Cataract as a Phenotypic Marker for a Mutation in WFS1, the Wolfram Syndrome Gene

G. Rondouin, P. Amati‐Bonneau, G. Lenaers, 2012, European journal of ophthalmology.

The wide POLG-related spectrum: An integrated view

P. Amati‐Bonneau, A. Echaniz-Laguna, T. Kuntzer, 2016, Journal of the Neurological Sciences.

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.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

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

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Neurology: Genetics.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Daniel Henrion, Guy Lenaers, Patrizia Amati-Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

NOVEL NDUFS 4 GENE MUTATION IN AN ATYPICAL LATE-ONSET MITOCHONDRIAL FORM OF MULTIFOCAL DYSTONIA Mitochondrial

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2022 .

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

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

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

C. Tilikete, C. Orssaud, D. Milea, 2018, Orphanet Journal of Rare Diseases.

Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family

P. Amati‐Bonneau, P. Reynier, Y. Alanay, 2005 .

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.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

G. Rebillard, B. Delprat, P. Chinnery, 2016, Cell Death Discovery.

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

D. Bonneau, P. Amati‐Bonneau, O. Chabre, 2020, Hormone Research in Paediatrics.

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

D. Krainc, D. Bonneau, P. Amati‐Bonneau, 2021, Molecular neurodegeneration.

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2005, Revue neurologique.

First characterization of LHON pedigrees in North Africa

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Eye.

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.

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

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

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

Reply: The expanding neurological phenotype of DNM1L-related disorders.

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

C. Bris, V. Desquiret-Dumas, D. Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of 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.