Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration

(2011) Laura Conforti et al.   FEBS Journal

Wallerian Degeneration, WldS, and Nmnat

(2010) Michael P. Coleman et al.   Annual Review of Neuroscience

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

(2010) Emily I. Schindler et al.   HUMAN MOLECULAR GENETICS

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

(2009) Albert M Maguire et al.   LANCET

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE