-
1
-
-
84905916277
-
Causes and consequences of inherited cone disorders
-
Roosing, S, Thiadens, AA, Hoyng, CB, Klaver, CC, den Hollander, AI and Cremers, FP (2014). Causes and consequences of inherited cone disorders. Prog Retin Eye Res 42: 1-26.
-
(2014)
Prog Retin Eye Res
, vol.42
, pp. 1-26
-
-
Roosing, S.1
Thiadens, A.A.2
Hoyng, C.B.3
Klaver, C.C.4
Den Hollander, A.I.5
Cremers, F.P.6
-
2
-
-
0031818862
-
The cone dystrophies
-
Simunovic, MP and Moore, AT (1998). The cone dystrophies. Eye (Lond) 12 (Pt 3b): 553-565.
-
(1998)
Eye (Lond)
, vol.12
, pp. 553-565
-
-
Simunovic, M.P.1
Moore, A.T.2
-
3
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
Kohl, S, Marx, T, Giddings, I, Jägle, H, Jacobson, SG, Apfelstedt-Sylla, E et al. (1998). Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19: 257-259.
-
(1998)
Nat Genet
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
Jägle, H.4
Jacobson, S.G.5
Apfelstedt-Sylla, E.6
-
4
-
-
0034822311
-
CNGA3 mutations in hereditary cone photoreceptor disorders
-
Wissinger, B, Gamer, D, Jägle, H, Giorda, R, Marx, T, Mayer, S et al. (2001). CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 69: 722-737.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 722-737
-
-
Wissinger, B.1
Gamer, D.2
Jägle, H.3
Giorda, R.4
Marx, T.5
Mayer, S.6
-
5
-
-
0033237814
-
Homozygosity mapping of the Achromatopsia locus in the Pingelapese
-
Winick, JD, Blundell, ML, Galke, BL, Salam, AA, Leal, SM and Karayiorgou, M (1999). Homozygosity mapping of the Achromatopsia locus in the Pingelapese. Am J Hum Genet 64: 1679-1685.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1679-1685
-
-
Winick, J.D.1
Blundell, M.L.2
Galke, B.L.3
Salam, A.A.4
Leal, S.M.5
Karayiorgou, M.6
-
6
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
Kohl, S, Baumann, B, Broghammer, M, Jägle, H, Sieving, P, Kellner, U et al. (2000). Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9: 2107-2116.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
Jägle, H.4
Sieving, P.5
Kellner, U.6
-
7
-
-
20144382218
-
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
-
Kohl, S, Varsanyi, B, Antunes, GA, Baumann, B, Hoyng, CB, Jägle, H et al. (2005). CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13: 302-308.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 302-308
-
-
Kohl, S.1
Varsanyi, B.2
Antunes, G.A.3
Baumann, B.4
Hoyng, C.B.5
Jägle, H.6
-
8
-
-
68349100283
-
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
-
Thiadens, AA, Slingerland, NW, Roosing, S, van Schooneveld, MJ, van Lith-Verhoeven, JJ, van Moll-Ramirez, N et al. (2009). Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 116: 1984-9. e1.
-
(2009)
Ophthalmology
, vol.116
, pp. 1984-1984e1
-
-
Thiadens, A.A.1
Slingerland, N.W.2
Roosing, S.3
Van Schooneveld, M.J.4
Van Lith-Verhoeven, J.J.5
Van Moll-Ramirez, N.6
-
9
-
-
84928823922
-
Genetics and disease expression in the cnga3 form of achromatopsia: SSteps on the path to gene therapy
-
Zelinger, L, Cideciyan, AV, Kohl, S, Schwartz, SB, Rosenmann, A, Eli, D et al. (2015). Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. Ophthalmology 122: 997-1007.
-
(2015)
Ophthalmology
, vol.122
, pp. 997-1007
-
-
Zelinger, L.1
Cideciyan, A.V.2
Kohl, S.3
Schwartz, S.B.4
Rosenmann, A.5
Eli, D.6
-
10
-
-
84907541076
-
Identification of CNGA3 mutations in 46 families: Common cause of achromatopsia and cone-rod dystrophies in Chinese patients
-
Li, S, Huang, L, Xiao, X, Jia, X, Guo, X and Zhang, Q (2014). Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. JAMA Ophthalmol 132: 1076-1083.
-
(2014)
JAMA Ophthalmol
, vol.132
, pp. 1076-1083
-
-
Li, S.1
Huang, L.2
Xiao, X.3
Jia, X.4
Guo, X.5
Zhang, Q.6
-
11
-
-
84925434821
-
Novel CNGA3 mutations in Chinese patients with achromatopsia
-
Liang, X, Dong, F, Li, H, Li, H, Yang, L and Sui, R (2015). Novel CNGA3 mutations in Chinese patients with achromatopsia. Br J Ophthalmol 99: 571-576.
-
(2015)
Br J Ophthalmol
, vol.99
, pp. 571-576
-
-
Liang, X.1
Dong, F.2
Li, H.3
Li, H.4
Yang, L.5
Sui, R.6
-
12
-
-
0036071242
-
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
-
Kohl, S, Baumann, B, Rosenberg, T, Kellner, U, Lorenz, B, Vadalà, M et al. (2002). Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 71: 422-425.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 422-425
-
-
Kohl, S.1
Baumann, B.2
Rosenberg, T.3
Kellner, U.4
Lorenz, B.5
Vadalà, M.6
-
13
-
-
68349107942
-
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
-
Thiadens, AA, den Hollander, AI, Roosing, S, Nabuurs, SB, Zekveld-Vroon, RC, Collin, RW et al. (2009). Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 85: 240-247.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 240-247
-
-
Thiadens, A.A.1
Den Hollander, A.I.2
Roosing, S.3
Nabuurs, S.B.4
Zekveld-Vroon, R.C.5
Collin, R.W.6
-
14
-
-
84866105049
-
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
-
European Retinal Disease Consortium
-
Kohl, S, Coppieters, F, Meire, F, Schaich, S, Roosing, S, Brennenstuhl, C et al. ; European Retinal Disease Consortium. (2012). A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet 91: 527-532.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 527-532
-
-
Kohl, S.1
Coppieters, F.2
Meire, F.3
Schaich, S.4
Roosing, S.5
Brennenstuhl, C.6
-
15
-
-
84876997127
-
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
-
Yeh, CY, Goldstein, O, Kukekova, AV, Holley, D, Knollinger, AM, Huson, HJ et al. (2013). Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14: 27.
-
(2013)
BMC Genet
, vol.14
, pp. 27
-
-
Yeh, C.Y.1
Goldstein, O.2
Kukekova, A.V.3
Holley, D.4
Knollinger, A.M.5
Huson, H.J.6
-
16
-
-
0036667730
-
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
-
Sidjanin, DJ, Lowe, JK, McElwee, JL, Milne, BS, Phippen, TM, Sargan, DR et al. (2002). Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11: 1823-1833.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1823-1833
-
-
Sidjanin, D.J.1
Lowe, J.K.2
McElwee, J.L.3
Milne, B.S.4
Phippen, T.M.5
Sargan, D.R.6
-
17
-
-
79955059185
-
Achromatopsia as a potential candidate for gene therapy
-
Pang, JJ, Alexander, J, Lei, B, Deng, W, Zhang, K, Li, Q et al. (2010). Achromatopsia as a potential candidate for gene therapy. Adv Exp Med Biol 664: 639-646.
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 639-646
-
-
Pang, J.J.1
Alexander, J.2
Lei, B.3
Deng, W.4
Zhang, K.5
Li, Q.6
-
18
-
-
77954166401
-
Gene therapy rescues cone function in congenital achromatopsia
-
Komáromy, AM, Alexander, JJ, Rowlan, JS, Garcia, MM, Chiodo, VA, Kaya, A et al. (2010). Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet 19: 2581-2593.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2581-2593
-
-
Komáromy, A.M.1
Alexander, J.J.2
Rowlan, J.S.3
Garcia, M.M.4
Chiodo, V.A.5
Kaya, A.6
-
19
-
-
77954034138
-
A novel day blindness in sheep: Epidemiological, behavioural, electrophysiological and histopathological studies
-
Shamir, MH, Ofri, R, Bor, A, Brenner, O, Reicher, S, Obolensky, A et al. (2010). A novel day blindness in sheep: epidemiological, behavioural, electrophysiological and histopathological studies. Vet J 185: 130-137.
-
(2010)
Vet J
, vol.185
, pp. 130-137
-
-
Shamir, M.H.1
Ofri, R.2
Bor, A.3
Brenner, O.4
Reicher, S.5
Obolensky, A.6
-
20
-
-
75449110182
-
A mutation in gene CNGA3 is associated with day blindness in sheep
-
Reicher, S, Seroussi, E and Gootwine, E (2010). A mutation in gene CNGA3 is associated with day blindness in sheep. Genomics 95: 101-104.
-
(2010)
Genomics
, vol.95
, pp. 101-104
-
-
Reicher, S.1
Seroussi, E.2
Gootwine, E.3
-
21
-
-
79960832400
-
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
-
Carvalho, LS, Xu, J, Pearson, RA, Smith, AJ, Bainbridge, JW, Morris, LM et al. (2011). Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet 20: 3161-3175.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3161-3175
-
-
Carvalho, L.S.1
Xu, J.2
Pearson, R.A.3
Smith, A.J.4
Bainbridge, J.W.5
Morris, L.M.6
-
22
-
-
78650918670
-
Restoration of cone vision in the CNGA3-/-mouse model of congenital complete lack of cone photoreceptor function
-
Michalakis, S, Mühlfriedel, R, Tanimoto, N, Krishnamoorthy, V, Koch, S, Fischer, MD et al. (2010). Restoration of cone vision in the CNGA3-/-mouse model of congenital complete lack of cone photoreceptor function. Mol Ther 18: 2057-2063.
-
(2010)
Mol Ther
, vol.18
, pp. 2057-2063
-
-
Michalakis, S.1
Mühlfriedel, R.2
Tanimoto, N.3
Krishnamoorthy, V.4
Koch, S.5
Fischer, M.D.6
-
23
-
-
84855926075
-
Gene therapy restores missing cone-mediated vision in the CNGA3-/-mouse model of achromatopsia
-
Michalakis, S, Mühlfriedel, R, Tanimoto, N, Krishnamoorthy, V, Koch, S, Fischer, MD et al. (2012). Gene therapy restores missing cone-mediated vision in the CNGA3-/-mouse model of achromatopsia. Adv Exp Med Biol 723: 183-189.
-
(2012)
Adv Exp Med Biol
, vol.723
, pp. 183-189
-
-
Michalakis, S.1
Mühlfriedel, R.2
Tanimoto, N.3
Krishnamoorthy, V.4
Koch, S.5
Fischer, M.D.6
-
24
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
Pang, JJ, Deng, WT, Dai, X, Lei, B, Everhart, D, Umino, Y et al. (2012). AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS One 7: e35250.
-
(2012)
PLoS One
, vol.7
, pp. e35250
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
Lei, B.4
Everhart, D.5
Umino, Y.6
-
25
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
Alexander, JJ, Umino, Y, Everhart, D, Chang, B, Min, SH, Li, Q et al. (2007). Restoration of cone vision in a mouse model of achromatopsia. Nat Med 13: 685-687.
-
(2007)
Nat Med
, vol.13
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
Chang, B.4
Min, S.H.5
Li, Q.6
-
26
-
-
70349971731
-
Gene therapy for red-green colour blindness in adult primates
-
Mancuso, K, Hauswirth, WW, Li, Q, Connor, TB, Kuchenbecker, JA, Mauck, MC et al. (2009). Gene therapy for red-green colour blindness in adult primates. Nature 461: 784-787.
-
(2009)
Nature
, vol.461
, pp. 784-787
-
-
Mancuso, K.1
Hauswirth, W.W.2
Li, Q.3
Connor, T.B.4
Kuchenbecker, J.A.5
Mauck, M.C.6
-
27
-
-
77952176485
-
Topography of ganglion cells and photoreceptors in the sheep retina
-
Shinozaki, A, Hosaka, Y, Imagawa, T and Uehara, M (2010). Topography of ganglion cells and photoreceptors in the sheep retina. J Comp Neurol 518: 2305-2315.
-
(2010)
J Comp Neurol
, vol.518
, pp. 2305-2315
-
-
Shinozaki, A.1
Hosaka, Y.2
Imagawa, T.3
Uehara, M.4
-
28
-
-
54949104686
-
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 et al. (2008). 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. Hum Gene Ther 19: 979-990.
-
(2008)
Hum Gene Ther
, vol.19
, pp. 979-990
-
-
Hauswirth, W.W.1
Aleman, T.S.2
Kaushal, S.3
Cideciyan, A.V.4
Schwartz, S.B.5
Wang, L.6
-
29
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland, GM, Aguirre, GD, Ray, J, Zhang, Q, Aleman, TS, Cideciyan, AV et al. (2001). Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28: 92-95.
-
(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
-
30
-
-
28444442243
-
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 et al. (2005). 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. Mol Ther 12: 1072-1082.
-
(2005)
Mol Ther
, vol.12
, pp. 1072-1082
-
-
Acland, G.M.1
Aguirre, G.D.2
Bennett, J.3
Aleman, T.S.4
Cideciyan, A.V.5
Bennicelli, J.6
-
31
-
-
33644525947
-
Assessment of structure and function over a 3-year period after gene transfer in RPE65-/-dogs
-
Narfström, K, Vaegan, Katz, M, Bragadottir, R, Rakoczy, EP and Seeliger, M (2005). Assessment of structure and function over a 3-year period after gene transfer in RPE65-/-dogs. Doc Ophthalmol 111: 39-48.
-
(2005)
Doc Ophthalmol
, vol.111
, pp. 39-48
-
-
Narfström, K.1
Vaegan2
Katz, M.3
Bragadottir, R.4
Rakoczy, E.P.5
Seeliger, M.6
-
33
-
-
84875220318
-
A comprehensive review of retinal gene therapy
-
Boye, SE, Boye, SL, Lewin, AS and Hauswirth, WW (2013). A comprehensive review of retinal gene therapy. Mol Ther 21: 509-519.
-
(2013)
Mol Ther
, vol.21
, pp. 509-519
-
-
Boye, S.E.1
Boye, S.L.2
Lewin, A.S.3
Hauswirth, W.W.4
-
34
-
-
77954620055
-
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
-
Cideciyan, AV (2010). Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res 29: 398-427.
-
(2010)
Prog Retin Eye Res
, vol.29
, pp. 398-427
-
-
Cideciyan, A.V.1
-
35
-
-
84897051037
-
Retinal gene therapy in patients with choroideremia: Initial findings from a phase clinical trial
-
MacLaren, RE, Groppe, M, Barnard, AR, Cottriall, CL, Tolmachova, T, Seymour, L et al. (2014). Retinal gene therapy in patients with choroideremia: initial findings from a phase clinical trial. Lancet 383: 1129-1137.
-
(2014)
Lancet
, vol.383
, pp. 1129-1137
-
-
MacLaren, R.E.1
Groppe, M.2
Barnard, A.R.3
Cottriall, C.L.4
Tolmachova, T.5
Seymour, L.6
-
36
-
-
84880253015
-
Gene therapy for blindness
-
Sahel, JA and Roska, B (2013). Gene therapy for blindness. Annu Rev Neurosci 36: 467-488.
-
(2013)
Annu Rev Neurosci
, vol.36
, pp. 467-488
-
-
Sahel, J.A.1
Roska, B.2
-
37
-
-
84878538674
-
Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia
-
Komáromy, AM, Rowlan, JS, Corr, AT, Reinstein, SL, Boye, SL, Cooper, AE et al. (2013). Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. Mol Ther 21: 1131-1141.
-
(2013)
Mol Ther
, vol.21
, pp. 1131-1141
-
-
Komáromy, A.M.1
Rowlan, J.S.2
Corr, A.T.3
Reinstein, S.L.4
Boye, S.L.5
Cooper, A.E.6
-
38
-
-
84891626222
-
Retinal structure and function in achromatopsia: Implications for gene therapy
-
Sundaram, V, Wilde, C, Aboshiha, J, Cowing, J, Han, C, Langlo, CS et al. (2014). Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology 121: 234-245.
-
(2014)
Ophthalmology
, vol.121
, pp. 234-245
-
-
Sundaram, V.1
Wilde, C.2
Aboshiha, J.3
Cowing, J.4
Han, C.5
Langlo, C.S.6
-
39
-
-
84924278273
-
Genotype-dependent variability in residual cone structure in achromatopsia: Toward developing metrics for assessing cone health
-
Dubis, AM, Cooper, RF, Aboshiha, J, Langlo, CS, Sundaram, V, Liu, B et al. (2014). Genotype-dependent variability in residual cone structure in achromatopsia: Toward developing metrics for assessing cone health. Invest Ophthalmol Vis Sci 55: 7303-7311.
-
(2014)
Invest Ophthalmol Vis Sci
, vol.55
, pp. 7303-7311
-
-
Dubis, A.M.1
Cooper, R.F.2
Aboshiha, J.3
Langlo, C.S.4
Sundaram, V.5
Liu, B.6
-
40
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
Maguire, AM, Simonelli, F, Pierce, EA, Pugh, EN Jr, Mingozzi, F, Bennicelli, J et al. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358: 2240-2248.
-
(2008)
N Engl J Med
, vol.358
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
Pugh, E.N.4
Mingozzi, F.5
Bennicelli, J.6
-
41
-
-
84925287247
-
Flicker cone function in normal and day blind sheep: A large animal model for human achromatopsia caused by CNGA3 mutation
-
Ezra-Elia, R, Banin, E, Honig, H, Rosov, A, Obolensky, A, Averbukh, E et al. (2014). Flicker cone function in normal and day blind sheep: A large animal model for human achromatopsia caused by CNGA3 mutation. Doc Ophthalmol 129: 141-150.
-
(2014)
Doc Ophthalmol
, vol.129
, pp. 141-150
-
-
Ezra-Elia, R.1
Banin, E.2
Honig, H.3
Rosov, A.4
Obolensky, A.5
Averbukh, E.6
-
42
-
-
57149118838
-
Restoration of underdeveloped cortical functions: Evidence from treatment of adult amblyopia
-
Polat, U (2008). Restoration of underdeveloped cortical functions: evidence from treatment of adult amblyopia. Restor Neurol Neurosci 26: 413-424.
-
(2008)
Restor Neurol Neurosci
, vol.26
, pp. 413-424
-
-
Polat, U.1
-
43
-
-
84901805485
-
The Argus II Retinal Prosthesis: 12-month outcomes from a single-study center
-
Rizzo, S, Belting, C, Cinelli, L, Allegrini, L, Genovesi-Ebert, F, Barca, F et al. (2014). The Argus II Retinal Prosthesis: 12-month outcomes from a single-study center. Am J Ophthalmol 157: 1282-1290.
-
(2014)
Am J Ophthalmol
, vol.157
, pp. 1282-1290
-
-
Rizzo, S.1
Belting, C.2
Cinelli, L.3
Allegrini, L.4
Genovesi-Ebert, F.5
Barca, F.6
-
45
-
-
68849088569
-
Vision 1 year after gene therapy for Leber's congenital amaurosis
-
Cideciyan, AV, Hauswirth, WW, Aleman, TS, Kaushal, S, Schwartz, SB, Boye, SL et al. (2009). Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med 361: 725-727.
-
(2009)
N Engl J Med
, vol.361
, pp. 725-727
-
-
Cideciyan, A.V.1
Hauswirth, W.W.2
Aleman, T.S.3
Kaushal, S.4
Schwartz, S.B.5
Boye, S.L.6
-
46
-
-
84921783225
-
Pseudo-fovea formation after gene therapy for RPE65-LCA
-
Cideciyan, AV, Aguirre, GK, Jacobson, SG, Butt, OH, Schwartz, SB, Swider, M et al. (2015). Pseudo-fovea formation after gene therapy for RPE65-LCA. Invest Ophthalmol Vis Sci 56: 526-537.
-
(2015)
Invest Ophthalmol Vis Sci
, vol.56
, pp. 526-537
-
-
Cideciyan, A.V.1
Aguirre, G.K.2
Jacobson, S.G.3
Butt, O.H.4
Schwartz, S.B.5
Swider, M.6
-
47
-
-
79957890110
-
The human visual cortex responds to gene therapy-mediated recovery of retinal function
-
Ashtari, M, Cyckowski, LL, Monroe, JF, Marshall, KA, Chung, DC, Auricchio, A et al. (2011). The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest 121: 2160-2168.
-
(2011)
J Clin Invest
, vol.121
, pp. 2160-2168
-
-
Ashtari, M.1
Cyckowski, L.L.2
Monroe, J.F.3
Marshall, K.A.4
Chung, D.C.5
Auricchio, A.6
-
48
-
-
84908200336
-
FMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis
-
Ashtari, M, Cyckowski, L, Yazdi, A, Viands, A, Marshall, K, Bókkon, I et al. (2014). fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis. PLoS One 9: e86068.
-
(2014)
PLoS One
, vol.9
, pp. e86068
-
-
Ashtari, M.1
Cyckowski, L.2
Yazdi, A.3
Viands, A.4
Marshall, K.5
Bókkon, I.6
-
49
-
-
84905089892
-
Reorganization of visual processing in age-related macular degeneration depends on foveal loss
-
Dilks, DD, Julian, JB, Peli, E and Kanwisher, N (2014). Reorganization of visual processing in age-related macular degeneration depends on foveal loss. Optom Vis Sci 91: e199-e206.
-
(2014)
Optom Vis Sci
, vol.91
, pp. e199-e206
-
-
Dilks, D.D.1
Julian, J.B.2
Peli, E.3
Kanwisher, N.4
-
50
-
-
77950787775
-
Effective rehabilitation of reading by training in the technique of eccentric viewing: Evaluation of a 4-year programme of service delivery
-
Palmer, S, Logan, D, Nabili, S and Dutton, GN (2010). Effective rehabilitation of reading by training in the technique of eccentric viewing: evaluation of a 4-year programme of service delivery. Br J Ophthalmol 94: 494-497.
-
(2010)
Br J Ophthalmol
, vol.94
, pp. 494-497
-
-
Palmer, S.1
Logan, D.2
Nabili, S.3
Dutton, G.N.4
-
51
-
-
34648825477
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
-
Khan, NW, Wissinger, B, Kohl, S and Sieving, PA (2007). CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 48: 3864-3871.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 3864-3871
-
-
Khan, N.W.1
Wissinger, B.2
Kohl, S.3
Sieving, P.A.4
-
52
-
-
77949875842
-
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
-
Thiadens, AA, Roosing, S, Collin, RW, van Moll-Ramirez, N, van Lith-Verhoeven, JJ, van Schooneveld, MJ et al. (2010). Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology 117: 825-30. e1.
-
(2010)
Ophthalmology
, vol.117
, pp. 825-830e1
-
-
Thiadens, A.A.1
Roosing, S.2
Collin, R.W.3
Van Moll-Ramirez, N.4
Van Lith-Verhoeven, J.J.5
Van Schooneveld, M.J.6
-
53
-
-
84856401869
-
Photoreceptor structure and function in patients with congenital achromatopsia
-
Genead, MA, Fishman, GA, Rha, J, Dubis, AM, Bonci, DM, Dubra, A et al. (2011). Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci 52: 7298-7308.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 7298-7308
-
-
Genead, M.A.1
Fishman, G.A.2
Rha, J.3
Dubis, A.M.4
Bonci, D.M.5
Dubra, A.6
-
54
-
-
84887991897
-
Diagnostic fundus autofluorescence patterns in achromatopsia
-
Fahim, AT, Khan, NW, Zahid, S, Schachar, IH, Branham, K, Kohl, S et al. (2013). Diagnostic fundus autofluorescence patterns in achromatopsia. Am J Ophthalmol 156: 1211-1219. e2.
-
(2013)
Am J Ophthalmol
, vol.156
, pp. 1211-1219e2
-
-
Fahim, A.T.1
Khan, N.W.2
Zahid, S.3
Schachar, I.H.4
Branham, K.5
Kohl, S.6
-
55
-
-
16644393915
-
Tissue specific expression of alternative splice forms of human cyclic nucleotide gated channel subunit CNGA3
-
Cassar, SC, Chen, J, Zhang, D and Gopalakrishnan, M (2004). Tissue specific expression of alternative splice forms of human cyclic nucleotide gated channel subunit CNGA3. Mol Vis 10: 808-813.
-
(2004)
Mol Vis
, vol.10
, pp. 808-813
-
-
Cassar, S.C.1
Chen, J.2
Zhang, D.3
Gopalakrishnan, M.4
-
56
-
-
84900458256
-
Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides
-
Dai, G, Sherpa, T and Varnum, MD (2014). Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides. J Biol Chem 289: 13680-13690.
-
(2014)
J Biol Chem
, vol.289
, pp. 13680-13690
-
-
Dai, G.1
Sherpa, T.2
Varnum, M.D.3
-
57
-
-
0036301043
-
Cyclic nucleotide-gated ion channels
-
Kaupp, UB and Seifert, R (2002). Cyclic nucleotide-gated ion channels. Physiol Rev 82: 769-824.
-
(2002)
Physiol Rev
, vol.82
, pp. 769-824
-
-
Kaupp, U.B.1
Seifert, R.2
-
58
-
-
36248969224
-
Function and dysfunction of CNG channels: Insights from channelopathies and mouse models
-
Biel, M and Michalakis, S (2007). Function and dysfunction of CNG channels: insights from channelopathies and mouse models. Mol Neurobiol 35: 266-277.
-
(2007)
Mol Neurobiol
, vol.35
, pp. 266-277
-
-
Biel, M.1
Michalakis, S.2
-
59
-
-
70450164177
-
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: Down-regulation of CNGA3 biosynthesis as a potential mechanism
-
Ding, XQ, Harry, CS, Umino, Y, Matveev, AV, Fliesler, SJ and Barlow, RB (2009). Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. Hum Mol Genet 18: 4770-4780.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4770-4780
-
-
Ding, X.Q.1
Harry, C.S.2
Umino, Y.3
Matveev, A.V.4
Fliesler, S.J.5
Barlow, R.B.6
-
60
-
-
79960785268
-
Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency
-
Xu, J, Morris, L, Fliesler, SJ, Sherry, DM and Ding, XQ (2011). Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency. Invest Ophthalmol Vis Sci 52: 3557-3566.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 3557-3566
-
-
Xu, J.1
Morris, L.2
Fliesler, S.J.3
Sherry, D.M.4
Ding, X.Q.5
-
61
-
-
0022695490
-
Molecular genetics of human color vision: The genes encoding blue, green, and red pigments
-
Nathans, J, Thomas, D and Hogness, DS (1986). Molecular genetics of human color vision: The genes encoding blue, green, and red pigments. Science 232: 193-202.
-
(1986)
Science
, vol.232
, pp. 193-202
-
-
Nathans, J.1
Thomas, D.2
Hogness, D.S.3
-
62
-
-
0026806222
-
A locus control region adjacent to the human red and green visual pigment genes
-
Wang, Y, Macke, JP, Merbs, SL, Zack, DJ, Klaunberg, B, Bennett, J et al. (1992). A locus control region adjacent to the human red and green visual pigment genes. Neuron 9: 429-440.
-
(1992)
Neuron
, vol.9
, pp. 429-440
-
-
Wang, Y.1
Macke, J.P.2
Merbs, S.L.3
Zack, D.J.4
Klaunberg, B.5
Bennett, J.6
-
63
-
-
0036428801
-
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors
-
Zolotukhin, S, Potter, M, Zolotukhin, I, Sakai, Y, Loiler, S, Fraites, TJ Jr et al. (2002). Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods 28: 158-167.
-
(2002)
Methods
, vol.28
, pp. 158-167
-
-
Zolotukhin, S.1
Potter, M.2
Zolotukhin, I.3
Sakai, Y.4
Loiler, S.5
Fraites, T.J.6
|