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RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy
UploadEpilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
Download from onlinelibrary.wiley.comImpaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Download from doi.orgMitochondrial diseases in adults
UploadMutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Download from doi.orgATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Download from api.wiley.comSSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Download from doi.orgEarly Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation
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