Associated Papers
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.
Seo Y et al.
Frontiers in Neurology, 2022
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P et al.
Acta Ophthalmologica, 2017
Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
Namba K et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2016
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND et al.
American Journal of Medical Genetics. Part A, 2011
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
Li Y et al.
Molecular Vision, 2008
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