-
1
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
PMID: 11326284
-
Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28:92-5. [PMID: 11326284]
-
(2001)
Nat Genet
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
Zhang, Q.4
Aleman, T.S.5
Cideciyan, A.V.6
Pearce-Kelling, S.E.7
Anand, V.8
Zeng, Y.9
Maguire, A.M.10
Jacobson, S.G.11
Hauswirth, W.W.12
Bennett, J.13
-
2
-
-
0037379354
-
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
-
PMID: 12657607
-
Narfstrom K, Katz ML, Bragadottir R, Seeliger M, Boulanger A, Redmond TM, Caro L, Lai CM, Rakoczy PE. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci 2003; 44:1663-72. [PMID: 12657607]
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1663-1672
-
-
Narfstrom, K.1
Katz, M.L.2
Bragadottir, R.3
Seeliger, M.4
Boulanger, A.5
Redmond, T.M.6
Caro, L.7
Lai, C.M.8
Rakoczy, P.E.9
-
3
-
-
33846933945
-
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium
-
PMID: 17024105
-
Le Meur G, Stieger K, Smith AJ, Weber M, Deschamps JY, Nivard D, Mendes-Madeira A, Provost N, Pereon Y, Cherel Y, Ali RR, Hamel C, Moullier P, Rolling F. Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Ther 2007; 14:292-303. [PMID: 17024105]
-
(2007)
Gene Ther
, vol.14
, pp. 292-303
-
-
Le Meur, G.1
Stieger, K.2
Smith, A.J.3
Weber, M.4
Deschamps, J.Y.5
Nivard, D.6
Mendes-Madeira, A.7
Provost, N.8
Pereon, Y.9
Cherel, Y.10
Ali, R.R.11
Hamel, C.12
Moullier, P.13
Rolling, F.14
-
4
-
-
44249120315
-
Effect of gene therapy on visual function in Leber's congenital amaurosis
-
PMID: 18441371
-
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. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008; 358:2231-9. [PMID: 18441371]
-
(2008)
N Engl J Med
, vol.358
, pp. 2231-2239
-
-
Bainbridge, J.W.1
Smith, A.J.2
Barker, S.S.3
Robbie, S.4
Henderson, R.5
Balaggan, K.6
Viswanathan, A.7
Holder, G.E.8
Stockman, A.9
Tyler, N.10
Petersen-Jones, S.11
Bhattacharya, S.S.12
Thrasher, A.J.13
Fitzke, F.W.14
Carter, B.J.15
Rubin, G.S.16
Moore, A.T.17
Ali, R.R.18
-
5
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
PMID: 18441370
-
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. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008; 358:2240-8. [PMID: 18441370]
-
(2008)
N Engl J Med
, vol.358
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
Pugh Jr, E.N.4
Mingozzi, F.5
Bennicelli, J.6
Banfi, S.7
Marshall, K.A.8
Testa, F.9
Surace, E.M.10
Rossi, S.11
Lyubarsky, A.12
Arruda, V.R.13
Konkle, B.14
Stone, E.15
Sun, J.16
Jacobs, J.17
Dell'Osso, L.18
Hertle, R.19
Ma, J.X.20
Redmond, T.M.21
Zhu, X.22
Hauck, B.23
Zelenaia, O.24
Shindler, K.S.25
Maguire, M.G.26
Wright, J.F.27
Volpe, N.J.28
McDonnell, J.W.29
Auricchio, A.30
High, K.A.31
Bennett, J.32
more..
-
6
-
-
54949104686
-
-
Hauswirth W, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon T, Boye SL, Flotte TR, Byrne B, Jacobson SG. Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results. Hum Gene Ther. 2008 [PMID: 18441370]
-
Hauswirth W, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon T, Boye SL, Flotte TR, Byrne B, Jacobson SG. Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results. Hum Gene Ther. 2008 [PMID: 18441370]
-
-
-
-
7
-
-
0027354764
-
Progressive retinal atrophy in miniature longhaired dachshund dogs
-
PMID: 8439801
-
Curtis R, Barnett KC. Progressive retinal atrophy in miniature longhaired dachshund dogs. Br Vet J 1993; 149:71-85. [PMID: 8439801]
-
(1993)
Br Vet J
, vol.149
, pp. 71-85
-
-
Curtis, R.1
Barnett, K.C.2
-
8
-
-
35148846828
-
Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund
-
PMID:17724213
-
Turney C, Chong NH, Alexander RA, Hogg CR, Fleming L, Flack D, Barnett KC, Bird AC, Holder GE, Luthert PJ. Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund. Invest Ophthalmol Vis Sci 2007; 48:4240-9. [PMID:17724213]
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 4240-4249
-
-
Turney, C.1
Chong, N.H.2
Alexander, R.A.3
Hogg, C.R.4
Fleming, L.5
Flack, D.6
Barnett, K.C.7
Bird, A.C.8
Holder, G.E.9
Luthert, P.J.10
-
9
-
-
33748204582
-
Canine RPGRIP1 mutation establishes cone- rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis
-
PMID: 16806805
-
Mellersh CS, Boursnell ME, Pettitt L, Ryder EJ, Holmes NG, Grafham D, Forman OP, Sampson J, Barnett KC, Blanton S, Binns MM, Vaudin M. Canine RPGRIP1 mutation establishes cone- rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 2006; 88:293-301. [PMID: 16806805]
-
(2006)
Genomics
, vol.88
, pp. 293-301
-
-
Mellersh, C.S.1
Boursnell, M.E.2
Pettitt, L.3
Ryder, E.J.4
Holmes, N.G.5
Grafham, D.6
Forman, O.P.7
Sampson, J.8
Barnett, K.C.9
Blanton, S.10
Binns, M.M.11
Vaudin, M.12
-
10
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
PMID: 8673101
-
Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996; 13: 35-42. [PMID: 8673101]
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
Manson, F.4
Ciccodicola, A.5
Edgar, A.6
Carvalho, M.R.7
Achatz, H.8
Hellebrand, H.9
Lennon, A.10
Migliaccio, C.11
Porter, K.12
Zrenner, E.13
Bird, A.14
Jay, M.15
Lorenz, B.16
Wittwer, B.17
D'Urso, M.18
Meitinger, T.19
Wright, A.20
more..
-
11
-
-
0035004268
-
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
-
PMID: 11283794
-
Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andreasson S, Berson EL. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68:1295-8. [PMID: 11283794]
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1295-1298
-
-
Dryja, T.P.1
Adams, S.M.2
Grimsby, J.L.3
McGee, T.L.4
Hong, D.H.5
Li, T.6
Andreasson, S.7
Berson, E.L.8
-
12
-
-
11144356431
-
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
-
PMID: 15024725
-
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23:306-17. [PMID: 15024725]
-
(2004)
Hum Mutat
, vol.23
, pp. 306-317
-
-
Hanein, S.1
Perrault, I.2
Gerber, S.3
Tanguy, G.4
Barbet, F.5
Ducroq, D.6
Calvas, P.7
Dollfus, H.8
Hamel, C.9
Lopponen, T.10
Munier, F.11
Santos, L.12
Shalev, S.13
Zafeiriou, D.14
Dufier, J.L.15
Munnich, A.16
Rozet, J.M.17
Kaplan, J.18
-
13
-
-
0037389431
-
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis
-
PMID: 12651948
-
Zhao Y, Hong DH, Pawlyk B, Yue G, Adamian M, Grynberg M, Godzik A, Li T. The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci USA 2003; 100:3965-70. [PMID: 12651948]
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 3965-3970
-
-
Zhao, Y.1
Hong, D.H.2
Pawlyk, B.3
Yue, G.4
Adamian, M.5
Grynberg, M.6
Godzik, A.7
Li, T.8
-
14
-
-
0036710911
-
Guidelines for clinical electroretinography in the dog
-
PMID: 12462438
-
Narfstrom K, Ekesten B, Rosolen SG, Spiess BM, Percicot CL, Ofri R. Guidelines for clinical electroretinography in the dog. Doc Ophthalmol 2002; 105:83-92. [PMID: 12462438]
-
(2002)
Doc Ophthalmol
, vol.105
, pp. 83-92
-
-
Narfstrom, K.1
Ekesten, B.2
Rosolen, S.G.3
Spiess, B.M.4
Percicot, C.L.5
Ofri, R.6
-
15
-
-
25444483848
-
Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4
-
PMID: 16036915
-
Grayson C, Molday RS. Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4. J Biol Chem 2005; 280:32521-30. [PMID: 16036915]
-
(2005)
J Biol Chem
, vol.280
, pp. 32521-32530
-
-
Grayson, C.1
Molday, R.S.2
-
16
-
-
0031905990
-
TUNEL apoptotic cell detection in tissue sections: Critical evaluation and improvement
-
PMID: 9487114
-
Labat-Moleur F, Guillermet C, Lorimier P, Robert C, Lantuejoul S, Brambilla E, Negoescu A. TUNEL apoptotic cell detection in tissue sections: critical evaluation and improvement. J Histochem Cytochem 1998; 46:327-34. [PMID: 9487114]
-
(1998)
J Histochem Cytochem
, vol.46
, pp. 327-334
-
-
Labat-Moleur, F.1
Guillermet, C.2
Lorimier, P.3
Robert, C.4
Lantuejoul, S.5
Brambilla, E.6
Negoescu, A.7
-
17
-
-
0026254046
-
Optical coherence tomography
-
PMID: 1957169
-
Huang D, Swanson EA, Lin CP, Schuman JS, Stinson WG, Chang W, Hee MR, Flotte T, Gregory K, Puliafito CA, Fujimoto JG. Optical coherence tomography. Science 1991; 254:1178-81. [PMID: 1957169]
-
(1991)
Science
, vol.254
, pp. 1178-1181
-
-
Huang, D.1
Swanson, E.A.2
Lin, C.P.3
Schuman, J.S.4
Stinson, W.G.5
Chang, W.6
Hee, M.R.7
Flotte, T.8
Gregory, K.9
Puliafito, C.A.10
Fujimoto, J.G.11
-
18
-
-
0029049284
-
Optical biopsy and imaging using optical coherence tomography
-
PMID: 7585229
-
Fujimoto JG, Brezinski ME, Tearney GJ, Boppart SA, Bouma B, Hee MR, Southern JF, Swanson EA. Optical biopsy and imaging using optical coherence tomography. Nat Med 1995; 1:970-2. [PMID: 7585229]
-
(1995)
Nat Med
, vol.1
, pp. 970-972
-
-
Fujimoto, J.G.1
Brezinski, M.E.2
Tearney, G.J.3
Boppart, S.A.4
Bouma, B.5
Hee, M.R.6
Southern, J.F.7
Swanson, E.A.8
-
19
-
-
2342579503
-
Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies
-
PMID:15064680
-
Kijas JW, Zangerl B, Miller B, Nelson J, Kirkness EF, Aguirre GD, Acland GM. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis 2004; 10:223-32. [PMID:15064680]
-
(2004)
Mol Vis
, vol.10
, pp. 223-232
-
-
Kijas, J.W.1
Zangerl, B.2
Miller, B.3
Nelson, J.4
Kirkness, E.F.5
Aguirre, G.D.6
Acland, G.M.7
-
20
-
-
33846811462
-
Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy
-
PMID: 17180612
-
Ropstad EO, Bjerkas E, Narfstrom K. Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy. Doc Ophthalmol 2007; 114:27-36. [PMID: 17180612]
-
(2007)
Doc Ophthalmol
, vol.114
, pp. 27-36
-
-
Ropstad, E.O.1
Bjerkas, E.2
Narfstrom, K.3
-
21
-
-
33645985195
-
A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa
-
PMID: 16565408
-
Beltran WA, Hammond P, Acland GM, Aguirre GD. A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006; 47:1669-81. [PMID: 16565408]
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 1669-1681
-
-
Beltran, W.A.1
Hammond, P.2
Acland, G.M.3
Aguirre, G.D.4
-
22
-
-
26844436412
-
Evaluation of genotype-phenotype associations in leber congenital amaurosis
-
PMID:16205573
-
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina 2005; 25:919-29. [PMID:16205573]
-
(2005)
Retina
, vol.25
, pp. 919-929
-
-
Galvin, J.A.1
Fishman, G.A.2
Stone, E.M.3
Koenekoop, R.K.4
-
23
-
-
34247544372
-
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
-
PMID:17306875
-
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 2007; 114:895-8. [PMID:17306875]
-
(2007)
Ophthalmology
, vol.114
, pp. 895-898
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Sumaroka, A.4
Schwartz, S.B.5
Roman, A.J.6
Stone, E.M.7
-
24
-
-
27244446791
-
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
-
PMID: 16123399
-
Pawlyk BS, Smith AJ, Buch PK, Adamian M, Hong DH, Sandberg MA, Ali RR, Li T. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci 2005; 46:3039-45. [PMID: 16123399]
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3039-3045
-
-
Pawlyk, B.S.1
Smith, A.J.2
Buch, P.K.3
Adamian, M.4
Hong, D.H.5
Sandberg, M.A.6
Ali, R.R.7
Li, T.8
|