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CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. Aleman TS, et al. Among authors: windsor ea. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578027
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Aleman TS, Cideciyan AV, Windsor EA, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG. Aleman TS, et al. Among authors: windsor ea. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1319-29. doi: 10.1167/iovs.06-0764. Invest Ophthalmol Vis Sci. 2007. PMID: 17325179 Free PMC article.
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. Cideciyan AV, et al. Among authors: windsor ea. Hum Mutat. 2007 Nov;28(11):1074-83. doi: 10.1002/humu.20565. Hum Mutat. 2007. PMID: 17554762 Free article.
Human cone photoreceptor dependence on RPE65 isomerase.
Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Jacobson SG, et al. Among authors: windsor ea. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15123-8. doi: 10.1073/pnas.0706367104. Epub 2007 Sep 11. Proc Natl Acad Sci U S A. 2007. PMID: 17848510 Free PMC article.
31 results