Associated Papers
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N et al.
Plos One, 2021
Retinal dysfunction characterizes subtypes of dominant optic atrophy.
Cascavilla ML et al.
Acta Ophthalmologica, 2018
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P et al.
Acta Ophthalmologica, 2017
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
Rocca MA et al.
Journal of Neurology, 2015
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M et al.
Human Mutation, 2009
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