Associated Papers
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.
García-López M et al.
International Journal of Molecular Sciences, 2024
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
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
Rocca MA et al.
Journal of Neurology, 2015
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
Barboni P et al.
American Journal of Ophthalmology, 2014
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
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