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References for PMC Articles for PubMed (Select 19583479)


RPE65: role in the visual cycle, human retinal disease, and gene therapy.

Cai X, Conley SM, Naash MI.

Ophthalmic Genet. 2009 Jun;30(2):57-62. doi: 10.1080/13816810802626399. Review.


Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2009 May;50(5):2368-75. doi: 10.1167/iovs.08-2696. Epub 2008 Dec 30.


Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW.

Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7. doi: 10.1073/pnas.0807027105. Epub 2008 Sep 22.


Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2008 Oct;19(10):979-90. doi: 10.1089/hum.2008.107.


Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.


Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4573-7. doi: 10.1167/iovs.08-2121. Epub 2008 Jun 6.


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

Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR.

N Engl J Med. 2008 May 22;358(21):2231-9. doi: 10.1056/NEJMoa0802268. Epub 2008 Apr 27.


Safety and efficacy of gene transfer for Leber's congenital amaurosis.

Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J.

N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27.


Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1580-90. doi: 10.1167/iovs.07-1110.


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.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15123-8. Epub 2007 Sep 11.


Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.

PLoS Med. 2007 Jun;4(6):e230.


Retinal degenerations: from cell signaling to cell therapy; pre-clinical and clinical issues.

Cronin T, Léveillard T, Sahel JA.

Curr Gene Ther. 2007 Apr;7(2):121-9. Review.


Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.

Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG.

Mol Ther. 2005 Dec;12(6):1072-82. Epub 2005 Oct 14.


The association between visual acuity and central retinal thickness in retinitis pigmentosa.

Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3349-54.


Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. Epub 2005 Apr 18.


Latent adeno-associated virus infection elicits humoral but not cell-mediated immune responses in a nonhuman primate model.

Hernandez YJ, Wang J, Kearns WG, Loiler S, Poirier A, Flotte TR.

J Virol. 1999 Oct;73(10):8549-58.


New visual acuity charts for clinical research.

Ferris FL 3rd, Kassoff A, Bresnick GH, Bailey I.

Am J Ophthalmol. 1982 Jul;94(1):91-6.


Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa.

Ross DF, Fishman GA, Gilbert LD, Anderson RJ.

Arch Ophthalmol. 1984 Jul;102(7):1004-10.


Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa.

Jacobson SG, Voigt WJ, Parel JM, Apáthy PP, Nghiem-Phu L, Myers SW, Patella VM.

Ophthalmology. 1986 Dec;93(12):1604-11.


Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa.

Jacobson SG, Yagasaki K, Feuer WJ, Román AJ.

Exp Eye Res. 1989 May;48(5):679-91.

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