Associated Papers
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Yu-Wai-Man P et al.
Ophthalmology, 2011
Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.
Mayorov VI et al.
Bmc Biochemistry, 2008
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.
Han J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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