Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Webb BD et al.
Elife, 2023
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
Gerber S et al.
Genes, 2021
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Li H et al.
Human Molecular Genetics, 2020
Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases.
Iwata T
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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