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Items: 17

1.

Clustered Regularly Interspaced Short Palindromic Repeats: Challenges in Treating Retinal Disease.

Chrenek MA, Nickerson JM, Boatright JH.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):304-8. doi: 10.1097/APO.0000000000000225. Review.

2.

Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

Mackey DA, Kearns LS, Hewitt AW.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):253-5. doi: 10.1097/APO.0000000000000220. Review.

3.

[Gene therapy for hereditary ophthalmological diseases: Advances and future perspectives].

Chacón-Camacho ÓF, Astorga-Carballo A, Zenteno JC.

Gac Med Mex. 2015 Jul-Aug;151(4):501-11. Review. Spanish.

4.

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.

5.

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM.

J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. Review.

6.

Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Tran NM, Chen S.

Dev Dyn. 2014 Oct;243(10):1153-66. doi: 10.1002/dvdy.24151. Epub 2014 Jun 27. Review.

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.

Adeno-associated virus vectorology, manufacturing, and clinical applications.

Grieger JC, Samulski RJ.

Methods Enzymol. 2012;507:229-54. doi: 10.1016/B978-0-12-386509-0.00012-0. Review.

PMID:
22365777
9.
10.

Prospects for retinal gene replacement therapy.

Smith AJ, Bainbridge JW, Ali RR.

Trends Genet. 2009 Apr;25(4):156-65. doi: 10.1016/j.tig.2009.02.003. Epub 2009 Mar 18. Review.

PMID:
19303164
11.

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
12.

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.

Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE.

Doc Ophthalmol. 2008 Mar;116(2):79-89. Epub 2007 Nov 6. Review.

13.

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP.

Clin Exp Ophthalmol. 2007 Jul;35(5):473-85. Review.

PMID:
17651254
14.

Why photoreceptors die (and why they don't).

Fain GL.

Bioessays. 2006 Apr;28(4):344-54. Review.

PMID:
16547945
15.

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Koenekoop RK.

Ophthalmic Genet. 2005 Dec;26(4):175-9. Review.

PMID:
16352478
16.

[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].

Hanein S, Perrault I, Gerber S, Tanguy G, Hamel C, Dufier JL, Rozet JM, Kaplan J.

J Fr Ophtalmol. 2005 Jan;28(1):98-105. Review. French.

17.

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

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