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Items: 1 to 20 of 26

1.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.

2.

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Cideciyan AV.

Prog Retin Eye Res. 2010 Sep;29(5):398-427. doi: 10.1016/j.preteyeres.2010.04.002. Epub 2010 Apr 24. Review.

3.

Gene therapy for Leber congenital amaurosis: advances and future directions.

Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA.

Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Review.

PMID:
22644094
4.

The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.

Pierce EA, Bennett J.

Cold Spring Harb Perspect Med. 2015 Jan 29;5(9):a017285. doi: 10.1101/cshperspect.a017285. Review.

PMID:
25635059
5.

Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.

Stein L, Roy K, Lei L, Kaushal S.

Expert Opin Biol Ther. 2011 Mar;11(3):429-39. doi: 10.1517/14712598.2011.557358. Review.

PMID:
21299439
6.

Available Evidence on Leber Congenital Amaurosis and Gene Therapy.

Alkharashi M, Fulton AB.

Semin Ophthalmol. 2017;32(1):14-21. doi: 10.1080/08820538.2016.1228383. Epub 2016 Sep 29. Review.

PMID:
27686653
7.

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.

Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.

Klin Monbl Augenheilkd. 2014 Apr;231(4):405-10. doi: 10.1055/s-0034-1368221. Epub 2014 Apr 25. Review.

PMID:
24771178
8.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA.

Hum Mol Genet. 2012 Oct 15;21(R1):R111-24. Epub 2012 Jul 26. Review.

PMID:
22843501
9.

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.

10.

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.

PMID:
18632300
11.

Dog models for blinding inherited retinal dystrophies.

Petersen-Jones SM, Komáromy AM.

Hum Gene Ther Clin Dev. 2015 Mar;26(1):15-26. doi: 10.1089/humc.2014.155. Epub 2015 Feb 11. Review.

12.

Leber congenital amaurosis caused by mutations in RPGRIP1.

Li T.

Cold Spring Harb Perspect Med. 2014 Nov 20;5(4). pii: a017384. doi: 10.1101/cshperspect.a017384. Review.

PMID:
25414380
13.

Molecular genetics of Leber congenital amaurosis.

Cremers FP, van den Hurk JA, den Hollander AI.

Hum Mol Genet. 2002 May 15;11(10):1169-76. Review.

PMID:
12015276
14.

An overview of Leber congenital amaurosis: a model to understand human retinal development.

Koenekoop RK.

Surv Ophthalmol. 2004 Jul-Aug;49(4):379-98. Review.

PMID:
15231395
15.

Gene augmentation trials using the Rpe65-deficient dog: contributions towards development and refinement of human clinical trials.

Petersen-Jones SM, Annear MJ, Bartoe JT, Mowat FM, Barker SE, Smith AJ, Bainbridge JW, Ali RR.

Adv Exp Med Biol. 2012;723:177-82. doi: 10.1007/978-1-4614-0631-0_24. Review. No abstract available.

PMID:
22183331
16.

Vitamin A derivatives as treatment options for retinal degenerative diseases.

Perusek L, Maeda T.

Nutrients. 2013 Jul 12;5(7):2646-66. doi: 10.3390/nu5072646. Review.

17.

Let There Be Light: Gene and Cell Therapy for Blindness.

Dalkara D, Goureau O, Marazova K, Sahel JA.

Hum Gene Ther. 2016 Feb;27(2):134-47. doi: 10.1089/hum.2015.147. Review.

18.

Leber congenital amaurosis caused by mutations in GUCY2D.

Boye SE.

Cold Spring Harb Perspect Med. 2014 Sep 25;5(1):a017350. doi: 10.1101/cshperspect.a017350. Review.

19.

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Molday LL, Jefferies T, Molday RS.

Front Mol Neurosci. 2014 May 26;7:44. doi: 10.3389/fnmol.2014.00044. eCollection 2014 May 26. Review.

20.

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease.

Giacalone JC, Wiley LA, Burnight ER, Songstad AE, Mullins RF, Stone EM, Tucker BA.

Stem Cells Transl Med. 2016 Feb;5(2):132-40. doi: 10.5966/sctm.2015-0206. Epub 2015 Dec 18. Review.

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