Brown et al., Human Molecular Genetics 2021
Presentations Category: NMNAT1
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration
Greenwald et al., Human Molecular Genetics 2021
Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration
Greenwald et al., Molecular Therapy: Methods and Clinical Development, 2020
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
Greenwald et al., American Journal of Pathology 2016
NMNAT1 mutations cause Leber congenital amaurosis.
Falk et al., Nature Genetics 2012