Associated Papers
Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy.
Pandya BU et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G et al.
Brain : a Journal of Neurology, 2023
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
Gerber S et al.
Journal of Medical Genetics, 2017
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
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