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David Goudenège

University of Angers

14

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117

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

2021
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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.

2021 Genetics in Medicine
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First characterization of LHON pedigrees in North Africa

2020 Eye
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Warburg-like effect is a hallmark of complex I assembly defects

2019 Biochimica et Biophysica Acta
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

2019 Journal of Clinical Investigation
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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

2019 Clinica Chimica Acta
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Deep Sequencing Shows That Oocytes Are Not Prone to Accumulate mtDNA Heteroplasmic Mutations During Ovarian Ageing

2018 Obstetrical & Gynecological Survey
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High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

2017 Brain and behavior
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Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

2017 Neurology Genetics
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Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing

2017 Human Reproduction
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