Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V et al.
Genes, 2017
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F et al.
Human Mutation, 2015
26316326 (PubMed )
Supplement: HUMU-36-1188-s001.pdf
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Kaplan J et al.
Medecine Sciences : M/s, 2013
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I et al.
Nature Genetics, 2012
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