Associated Papers
NDUFAF5 variants cause early onset Leigh syndrome.
Massuyama BK et al.
Parkinsonism & Related Disorders, 2025
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
Cognitive Impairment in Phenotypic Leber Hereditary Optic Neuropathy Caused by Mutation in Nuclear Gene NDUFAF5.
Chen J et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
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