-
1
-
-
47249128518
-
Rpe65-/-and Lrat-/-mice: Comparable models of leber congenital amau-rosis
-
Fan J, Woodruff ML, Cilluffo MC, et al. Rpe65-/-and Lrat-/-mice: comparable models of leber congenital amau-rosis. Invest Ophthalmol Vis Sci. 2008; 49 (6) 2384-2389.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, Issue.6
, pp. 2384-2389
-
-
Fan, J.1
Woodruff, M.L.2
Cilluffo, M.C.3
-
2
-
-
3042651223
-
An overview of leber congenital amaurosis: A model to understand human retinal development
-
DOI 10.1016/j.survophthal.2004.04.003, PII S0039625704000839
-
Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol. 2004;49(4):379-398. (Pubitemid 38844798)
-
(2004)
Survey of Ophthalmology
, vol.49
, Issue.4
, pp. 379-398
-
-
Koenekoop, R.K.1
-
3
-
-
38549134461
-
Identification of novel mutations in patients with leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
-
DOI 10.1167/iovs.07-0610
-
den Hollander AI, Lopez I, Yzer S, et al. Identifcation of novel mutations in patients with Leber congenital amauro-sis and juvenile RP by genome-wide homozygosity map¬ping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007; 48(12):5690-5698. (Pubitemid 351260873)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.12
, pp. 5690-5698
-
-
Den Hollander, A.I.1
Lopez, I.2
Yzer, S.3
Zonneveld, M.N.4
Janssen, I.M.5
Strom, T.M.6
Hehir-Kwa, J.Y.7
Veltman, J.A.8
Arends, M.L.9
Meitinger, T.10
Musarella, M.A.11
Van Den Born, L.I.12
Fishman, G.A.13
Maumenee, I.H.14
Rohrschneider, K.15
Cremers, F.P.M.16
Koenekoop, R.K.17
-
4
-
-
34547491276
-
Genetic testing for retinal dystrophies and dysfunctions: Benefits, dilemmas and solutions
-
DOI 10.1111/j.1442-9071.2007.01534.x
-
Koenekoop RK, Lopez I, Der Hollander AI, et al. Genetic testing for retinal dystrophies and dysfunctions: benefts, dilemmas and solutions. Clin Experiment Ophthalmol. 2007;35(5):473-485. (Pubitemid 47162765)
-
(2007)
Clinical and Experimental Ophthalmology
, vol.35
, Issue.5
, pp. 473-485
-
-
Koenekoop, R.K.1
Lopez, I.2
Den Hollander, A.I.3
Allikmets, R.4
Cremers, F.P.M.5
-
5
-
-
0033862099
-
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations
-
Lorenz B, Gyurus P, Preising M, et al. Early-onset severe rod-cone dystrophy in young children with RPE65 muta-tions. Invest Ophthalmol Vis Sci. 2000;41(9):2735-2742. (Pubitemid 30624407)
-
(2000)
Investigative Ophthalmology and Visual Science
, vol.41
, Issue.9
, pp. 2735-2742
-
-
Lorenz, B.1
Gyurus, P.2
Preising, M.3
Bremser, D.4
Gu, S.5
Andrassi, M.6
Gerth, C.7
Gal, A.8
-
6
-
-
20944447776
-
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
-
DOI 10.1073/pnas.0500646102
-
Jacobson SG, Aleman, TS, Cideciyan AV, et al., Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci USA. 2005;102(17): 6177-6182. (Pubitemid 40594274)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.17
, pp. 6177-6182
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Sumaroka, A.4
Schwartz, S.B.5
Windsor, E.A.M.6
Traboulsi, E.I.7
Heon, E.8
Pittler, S.J.9
Milam, A.H.10
Maguire, A.M.11
Palczewski, K.12
Stone, E.M.13
Bennett, J.14
-
7
-
-
70350620424
-
Age-dependent effects of RPE65 gene therapy for Leber's congeni-tal amaurosis: A phase 1 dose-escalation trial
-
Maguire AM, High KA, Auriccio A, et al., Age-dependent effects of RPE65 gene therapy for Leber's congeni-tal amaurosis: a phase 1 dose-escalation trial. Lancet. 2009;374(9701):1597-1605.
-
(2009)
Lancet.
, vol.374
, Issue.9701
, pp. 1597-1605
-
-
Maguire, A.M.1
High, K.A.2
Auriccio, A.3
-
8
-
-
3442895643
-
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
-
DOI 10.1016/j.ophtha.2004.01.033, PII S0161642004005238
-
Lorenz B, Wabbles B, Wegscheider E, et al. Lack of fundus autofuorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associ-ated with mutations in RPE65. Ophthalmology. 2004;111(8): 1585-1594. (Pubitemid 39030816)
-
(2004)
Ophthalmology
, vol.111
, Issue.8
, pp. 1585-1594
-
-
Lorenz, B.1
Wabbels, B.2
Wegscheider, E.3
Hamel, C.P.4
Drexler, W.5
Preising, M.N.6
-
9
-
-
0032582425
-
Congenital stationary night blindness in the dog: Common muta-tion in the RPE65 gene indicates founder effect
-
Aguirre GD, Baldwin V, Pearce-Kelling S, et al., Congenital stationary night blindness in the dog: common muta-tion in the RPE65 gene indicates founder effect. Mol Vis. 1998;4:23.
-
(1998)
Mol Vis.
, vol.4
, pp. 23
-
-
Aguirre, G.D.1
Baldwin, V.2
Pearce-Kelling, S.3
-
10
-
-
33750116742
-
-/- mouse model of Leber's congenital amaurosis during progression of the disease
-
DOI 10.1096/fj.06-6211com
-
Cottet S, Michaut L, Boisset G, et al. Biological characteriza-tion of gene response in Rpe65-/-mouse model of Leber's congenital amaurosis during progression of the disease. FASEB J. 2006;20(12):2036-2049. (Pubitemid 44953903)
-
(2006)
FASEB Journal
, vol.20
, Issue.12
, pp. 2036-2049
-
-
Cottet, S.1
Michaut, L.2
Boisset, G.3
Schlecht, U.4
Gehring, W.5
Schorderet, D.F.6
-
11
-
-
0141707934
-
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis
-
DOI 10.1038/ng1246
-
Woodruff ML, Wang Z, Chung HY, et al., Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Nat Genet. 2003;35(2): 158-164. (Pubitemid 37187634)
-
(2003)
Nature Genetics
, vol.35
, Issue.2
, pp. 158-164
-
-
Woodruff, M.L.1
Wang, Z.2
Chung, H.Y.3
Redmond, T.M.4
Fain, G.L.5
Lem, J.6
-
12
-
-
70350168626
-
Prospects for gene therapy of inherited reti¬nal disease
-
Bainbridge JW. Prospects for gene therapy of inherited reti¬nal disease. Eye (Lond). 2009; 23(10):1898-1903.
-
(2009)
Eye (Lond).
, vol.23
, Issue.10
, pp. 1898-1903
-
-
Bainbridge, J.W.1
-
13
-
-
54449085219
-
Human gene therapy for RPE65 isomerase defciency activates the retin-oid cycle of vision but with slow rod kinetics
-
Cideciyan AV, Kaushal S, Roman A, et al., Human gene therapy for RPE65 isomerase defciency activates the retin-oid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA. 2008;105(39):15112-15117.
-
(2008)
Proc Natl Acad Sci USA.
, vol.105
, Issue.39
, pp. 15112-15117
-
-
Cideciyan, A.V.1
Kaushal, S.2
Roman, A.3
-
14
-
-
0037166342
-
Recovery of visual functions in a mouse model of leber congenital amaurosis
-
DOI 10.1074/jbc.M112384200
-
Van Hooser JP, Liang Y, Maeda T, et al., Recovery of visual functions in a mouse model of Leber congenital amaurosis. J Biol Chem. 2002;277(21):19173- 19182. (Pubitemid 34952484)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.21
, pp. 19173-19182
-
-
Van Preston Hooser, J.1
Liang, Y.2
Maeda, T.3
Kuksa, V.4
Jang, G.-F.5
He, Y.-G.6
Rieke, F.7
Fong, H.K.W.8
Detwiler, P.B.9
Palczewski, K.10
-
15
-
-
68949164901
-
Bax-induced apoptosis in Leber's congenital amaurosis: A dual role in rod and cone degeneration
-
Hamann S, Schorderet DF, Cottet S. Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration. PLoS One. 2009;4(8): e6616.
-
(2009)
PLoS One.
, vol.4
, Issue.8
-
-
Hamann, S.1
Schorderet, D.F.2
Cottet, S.3
-
16
-
-
0033514001
-
Apoptotic DNA fragmentation and upregulation of Bax induced by transient ischemia of the rat retina
-
DOI 10.1016/S0006-8993(98)01074-9, PII S0006899398010749
-
Kaneda K, Kashii S, Kurosawa T. Apoptotic DNA frag¬mentation and upregulation of Bax induced by tran¬sient ischemia of the rat retina. Brain Res. 1999;815(1): 11-20. (Pubitemid 29225219)
-
(1999)
Brain Research
, vol.815
, Issue.1
, pp. 11-20
-
-
Kaneda, K.1
Kashii, S.2
Kurosawa, T.3
Kaneko, S.4
Akaike, A.5
Honda, Y.6
Minami, M.7
Satoh, M.8
|