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Anthony T. Moore

Researcher at University of California, San Francisco

Publications -  468
Citations -  29909

Anthony T. Moore is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Retinitis pigmentosa & Retinal. The author has an hindex of 81, co-authored 458 publications receiving 26221 citations. Previous affiliations of Anthony T. Moore include Ghent University & University of Texas Health Science Center at Houston.

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Effect of gene therapy on visual function in Leber's congenital amaurosis.

TL;DR: Three young adult patients with early-onset, severe retinal dystrophy were administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human R PE65 promoter.
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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

TL;DR: The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity.
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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, +185 more
- 01 Feb 2016 - 
TL;DR: The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
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Complement C3 Variant and the Risk of Age-Related Macular Degeneration

TL;DR: The common functional polymorphism rs2230199 in the C3 gene, corresponding to the electrophoretic variants C3S and C3F, was strongly associated with age-related macular degeneration in both the English group and the Scottish group and underscores the influence of the complement pathway in the pathogenesis of this disease.
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Clinical Features and Natural History of von Hippel-Lindau Disease

TL;DR: A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications of von Hippel-Lindan disease.