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Dominique Bonneau

French Institute of Health and Medical Research
University of Angers
University of Poitiers

497

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14213

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ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

2021 Human Genetics
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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

2021
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Author response for "Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly"

2021
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Are Your Mitochondria Ready for a Space Odyssey

2021 Trends in Endocrinology and Metabolism
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A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.

2021 Human Molecular Genetics
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Observance gap between users: Lessons from a trial of a smartphone application for parental empowerment in Autism Spectrum Disorders (Preprint)

2021 JMIR mental health
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Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

2021 Molecular Neurodegeneration
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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

2021 Genetics in Medicine
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Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

2021 Frontiers in Neurology
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Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.

2021 Frontiers in Psychiatry
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