15 results on '"Schwartz, Sharon B."'
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2. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants
3. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
4. ABCA4 disease progression and a proposed strategy for gene therapy
5. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
6. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration
7. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
8. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
9. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
10. Variegated yet non-random rod and cone photoreceptor disease patterns inRPGR-ORF15-associated retinal degeneration
11. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
12. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants
13. ABCA4 disease progression and a proposed strategy for gene therapy
14. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
15. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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