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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesLoss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degenerationThe CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.Wolfram syndrome: MAMs' connection?[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].Mitochondrial Complex I activity signals antioxidant response through ERK5.ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.ER-mitochondria cross-talk is regulated by the Ca sensor NCS1 and is impaired in Wolfram syndromeOptical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In VivoDominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyHereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
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investigador
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researcher
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wetenschapper
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Cécile Delettre
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Cécile Delettre
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Cécile Delettre
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Cécile Delettre
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Cécile Delettre
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Cécile Delettre
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P31
P496
0000-0003-3269-2155