Associated Papers
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Mitochondrial Retinopathies.
Zeviani M et al.
International Journal of Molecular Sciences, 2021
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.
Aleo SJ et al.
Human Molecular Genetics, 2021
33231680 (PubMed )
Supplement: supplementary_material_19-10-20_ddaa244.docx
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D et al.
Brain : a Journal of Neurology, 2014
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2014
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
Yu-Wai-Man P et al.
Human Molecular Genetics, 2010
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
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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