-
1
-
-
77956985453
-
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders
-
A.N. Bramall, A.F. Wright, S.G. Jacobson, and R.R. McInnes The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders Annu Rev Neurosci 33 2010 441 472
-
(2010)
Annu Rev Neurosci
, vol.33
, pp. 441-472
-
-
Bramall, A.N.1
Wright, A.F.2
Jacobson, S.G.3
McInnes, R.R.4
-
3
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
S. Kohl, T. Marx, and I. Giddings Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel Nat Genet 19 1998 257 259
-
(1998)
Nat Genet
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
-
4
-
-
0033932760
-
Genetic basis of total colourblindness among the Pingelapese islanders
-
O.H. Sundin, J.M. Yang, and Y. Li Genetic basis of total colourblindness among the Pingelapese islanders Nat Genet 25 2000 289 293
-
(2000)
Nat Genet
, vol.25
, pp. 289-293
-
-
Sundin, O.H.1
Yang, J.M.2
Li, Y.3
-
5
-
-
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
-
S. Kohl, B. Baumann, and M. Broghammer 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 2000 2107 2116
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
-
6
-
-
0036071242
-
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
-
S. Kohl, B. Baumann, and T. Rosenberg Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia Am J Hum Genet 71 2002 422 425
-
(2002)
Am J Hum Genet
, vol.71
, pp. 422-425
-
-
Kohl, S.1
Baumann, B.2
Rosenberg, T.3
-
7
-
-
68349107942
-
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
-
A.A. Thiadens, A.I. den Hollander, and S. Roosing Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders Am J Hum Genet 85 2009 240 247
-
(2009)
Am J Hum Genet
, vol.85
, pp. 240-247
-
-
Thiadens, A.A.1
Den Hollander, A.I.2
Roosing, S.3
-
8
-
-
84866105049
-
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
-
S. Kohl, F. Coppieters, and F. Meire A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia Am J Hum Genet 91 2012 527 532
-
(2012)
Am J Hum Genet
, vol.91
, pp. 527-532
-
-
Kohl, S.1
Coppieters, F.2
Meire, F.3
-
9
-
-
20144382218
-
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
-
S. Kohl, B. Varsanyi, and G.A. Antunes CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia Eur J Hum Genet 13 2005 302 308
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 302-308
-
-
Kohl, S.1
Varsanyi, B.2
Antunes, G.A.3
-
10
-
-
84872171620
-
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy
-
I. Wang, N.W. Khan, and K. Branham Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy Doc Ophthalmol 125 2012 229 233
-
(2012)
Doc Ophthalmol
, vol.125
, pp. 229-233
-
-
Wang, I.1
Khan, N.W.2
Branham, K.3
-
11
-
-
84866089135
-
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia
-
M.G. Thomas, R.J. McLean, and S. Kohl Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia Br J Ophthalmol 96 2012 1232 1236
-
(2012)
Br J Ophthalmol
, vol.96
, pp. 1232-1236
-
-
Thomas, M.G.1
McLean, R.J.2
Kohl, S.3
-
12
-
-
79955059185
-
Achromatopsia as a potential candidate for gene therapy
-
J.J. Pang, J. Alexander, and B. Lei Achromatopsia as a potential candidate for gene therapy Adv Exp Med Biol 664 2010 639 646
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 639-646
-
-
Pang, J.J.1
Alexander, J.2
Lei, B.3
-
13
-
-
78650918670
-
Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function
-
S. Michalakis, R. Muhlfriedel, and N. Tanimoto Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function Mol Ther 18 2010 2057 2063
-
(2010)
Mol Ther
, vol.18
, pp. 2057-2063
-
-
Michalakis, S.1
Muhlfriedel, R.2
Tanimoto, N.3
-
14
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
J.J. Alexander, Y. Umino, and D. Everhart Restoration of cone vision in a mouse model of achromatopsia Nat Med 13 2007 685 687
-
(2007)
Nat Med
, vol.13
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
-
15
-
-
84885575214
-
Gene replacement therapy for retinal CNG channelopathies
-
C. Schon, M. Biel, and S. Michalakis Gene replacement therapy for retinal CNG channelopathies Mol Genet Genomics 288 2013 459 467
-
(2013)
Mol Genet Genomics
, vol.288
, pp. 459-467
-
-
Schon, C.1
Biel, M.2
Michalakis, S.3
-
16
-
-
77954101145
-
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel
-
K. Koeppen, P. Reuter, and T. Ladewig Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel Hum Mutat 31 2010 830 839
-
(2010)
Hum Mutat
, vol.31
, pp. 830-839
-
-
Koeppen, K.1
Reuter, P.2
Ladewig, T.3
-
17
-
-
0034822311
-
CNGA3 mutations in hereditary cone photoreceptor disorders
-
B. Wissinger, D. Gamer, and H. Jagle CNGA3 mutations in hereditary cone photoreceptor disorders Am J Hum Genet 69 2001 722 737
-
(2001)
Am J Hum Genet
, vol.69
, pp. 722-737
-
-
Wissinger, B.1
Gamer, D.2
Jagle, H.3
-
18
-
-
77956058284
-
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews
-
L. Zelinger, A. Greenberg, and S. Kohl An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews Hum Genet 128 2010 261 267
-
(2010)
Hum Genet
, vol.128
, pp. 261-267
-
-
Zelinger, L.1
Greenberg, A.2
Kohl, S.3
-
19
-
-
0033595022
-
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
-
M. Biel, M. Seeliger, and A. Pfeifer Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3 Proc Natl Acad Sci U S A 96 1999 7553 7557
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 7553-7557
-
-
Biel, M.1
Seeliger, M.2
Pfeifer, A.3
-
20
-
-
3042536025
-
Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods
-
E. Claes, M. Seeliger, and S. Michalakis Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods Invest Ophthalmol Vis Sci 45 2004 2039 2048
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2039-2048
-
-
Claes, E.1
Seeliger, M.2
Michalakis, S.3
-
21
-
-
18244390994
-
Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3
-
S. Michalakis, H. Geiger, and S. Haverkamp Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3 Invest Ophthalmol Vis Sci 46 2005 1516 1524
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 1516-1524
-
-
Michalakis, S.1
Geiger, H.2
Haverkamp, S.3
-
22
-
-
77954034138
-
A novel day blindness in sheep: Epidemiological, behavioural, electrophysiological and histopathological studies
-
M.H. Shamir, R. Ofri, and A. Bor A novel day blindness in sheep: epidemiological, behavioural, electrophysiological and histopathological studies Vet J 185 2010 130 137
-
(2010)
Vet J
, vol.185
, pp. 130-137
-
-
Shamir, M.H.1
Ofri, R.2
Bor, A.3
-
23
-
-
75449110182
-
A mutation in gene CNGA3 is associated with day blindness in sheep
-
S. Reicher, E. Seroussi, and E. Gootwine A mutation in gene CNGA3 is associated with day blindness in sheep Genomics 95 2010 101 104
-
(2010)
Genomics
, vol.95
, pp. 101-104
-
-
Reicher, S.1
Seroussi, E.2
Gootwine, E.3
-
24
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
J.J. Pang, W.T. Deng, and X. Dai AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia PLoS One 7 2012 e35250
-
(2012)
PLoS One
, vol.7
, pp. e35250
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
-
25
-
-
59049100882
-
ISCEV Standard for full-field clinical electroretinography (2008 update)
-
M.F. Marmor, A.B. Fulton, and G.E. Holder ISCEV Standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 2009 69 77
-
(2009)
Doc Ophthalmol
, vol.118
, pp. 69-77
-
-
Marmor, M.F.1
Fulton, A.B.2
Holder, G.E.3
-
26
-
-
84890444228
-
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
-
A.V. Cideciyan, R.B. Hufnagel, and J. Carroll Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy Hum Gene Ther 24 2013 993 1006
-
(2013)
Hum Gene Ther
, vol.24
, pp. 993-1006
-
-
Cideciyan, A.V.1
Hufnagel, R.B.2
Carroll, J.3
-
27
-
-
0023002215
-
Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa
-
S.G. Jacobson, W.J. Voigt, and J.M. Parel Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa Ophthalmology 93 1986 1604 1611
-
(1986)
Ophthalmology
, vol.93
, pp. 1604-1611
-
-
Jacobson, S.G.1
Voigt, W.J.2
Parel, J.M.3
-
28
-
-
19944430129
-
Quantifying rod photoreceptor-mediated vision in retinal degenerations: Dark-adapted thresholds as outcome measures
-
A.J. Roman, S.B. Schwartz, and T.S. Aleman Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures Exp Eye Res 80 2005 259 272
-
(2005)
Exp Eye Res
, vol.80
, pp. 259-272
-
-
Roman, A.J.1
Schwartz, S.B.2
Aleman, T.S.3
-
29
-
-
79960816121
-
Achromatopsia
-
R.A. Pagon, M.P. Adam, T.D. Bird, University of Washington, Seattle Seattle
-
S. Kohl, H. Jagle, and B. Wissinger Achromatopsia R.A. Pagon, M.P. Adam, T.D. Bird, GeneReviews 1993 University of Washington, Seattle Seattle
-
(1993)
GeneReviews
-
-
Kohl, S.1
Jagle, H.2
Wissinger, B.3
-
31
-
-
43049122805
-
Measuring retinal contributions to the optical Stiles-Crawford effect with optical coherence tomography
-
W. Gao, B. Cense, and Y. Zhang Measuring retinal contributions to the optical Stiles-Crawford effect with optical coherence tomography Opt Express 16 2008 6486 6501
-
(2008)
Opt Express
, vol.16
, pp. 6486-6501
-
-
Gao, W.1
Cense, B.2
Zhang, Y.3
-
32
-
-
0004947018
-
Vision in a Complete achromat: A personal account
-
R.F. Hess, L.T. Sharpe, K. Nordby, Cambridge University Press New York
-
K. Nordby Vision in a Complete achromat: a personal account R.F. Hess, L.T. Sharpe, K. Nordby, Night Vision: Basic, Clinical and Applied Aspects 1990 Cambridge University Press New York
-
(1990)
Night Vision: Basic, Clinical and Applied Aspects
-
-
Nordby, K.1
-
33
-
-
77956175664
-
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
-
D. Bandah-Rozenfeld, K.W. Littink, and T. Ben-Yosef Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population Invest Ophthalmol Vis Sci 51 2010 4387 4394
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 4387-4394
-
-
Bandah-Rozenfeld, D.1
Littink, K.W.2
Ben-Yosef, T.3
-
34
-
-
77956393918
-
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa
-
D. Bandah-Rozenfeld, L. Mizrahi-Meissonnier, and C. Farhy Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa Am J Hum Genet 87 2010 382 391
-
(2010)
Am J Hum Genet
, vol.87
, pp. 382-391
-
-
Bandah-Rozenfeld, D.1
Mizrahi-Meissonnier, L.2
Farhy, C.3
-
35
-
-
0002128296
-
Opsin genes, cone photopigments, color vision and colorblindness
-
K.G.L.T. Sharpe, Cambridge University Press Cambridge
-
L.T. Sharpe, A. Stockman, H. Jägle, and J. Nathans Opsin genes, cone photopigments, color vision and colorblindness K.G.L.T. Sharpe, Color Vision: From Genes to Perception 1999 Cambridge University Press Cambridge
-
(1999)
Color Vision: From Genes to Perception
-
-
Sharpe, L.T.1
Stockman, A.2
Jägle, H.3
Nathans, J.4
-
36
-
-
0014943794
-
Hereditary blindness among Pingelapese people of Eastern Caroline Islands
-
J.A. Brody, I. Hussels, E. Brink, and J. Torres Hereditary blindness among Pingelapese people of Eastern Caroline Islands Lancet 1 1970 1253 1257
-
(1970)
Lancet
, vol.1
, pp. 1253-1257
-
-
Brody, J.A.1
Hussels, I.2
Brink, E.3
Torres, J.4
-
37
-
-
14944385597
-
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
-
K.M. Nishiguchi, M.A. Sandberg, and N. Gorji Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases Hum Mutat 25 2005 248 258
-
(2005)
Hum Mutat
, vol.25
, pp. 248-258
-
-
Nishiguchi, K.M.1
Sandberg, M.A.2
Gorji, N.3
-
38
-
-
34648825477
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
-
N.W. Khan, B. Wissinger, S. Kohl, and P.A. Sieving CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function Invest Ophthalmol Vis Sci 48 2007 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
-
39
-
-
59449110694
-
Rod and rod-driven function in achromatopsia and blue cone monochromatism
-
A. Moskowitz, R.M. Hansen, and J.D. Akula Rod and rod-driven function in achromatopsia and blue cone monochromatism Invest Ophthalmol Vis Sci 50 2009 950 958
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 950-958
-
-
Moskowitz, A.1
Hansen, R.M.2
Akula, J.D.3
-
40
-
-
33646904224
-
Synaptic plasticity in CNGA3(-/-) mice: Cone bipolar cells react on the missing cone input and form ectopic synapses with rods
-
S. Haverkamp, S. Michalakis, and E. Claes Synaptic plasticity in CNGA3(-/-) mice: cone bipolar cells react on the missing cone input and form ectopic synapses with rods J Neurosci 26 2006 5248 5255
-
(2006)
J Neurosci
, vol.26
, pp. 5248-5255
-
-
Haverkamp, S.1
Michalakis, S.2
Claes, E.3
-
41
-
-
84879679091
-
Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors
-
K.I. Cho, M. Haque, and J. Wang Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors PLoS Genet 9 2013 e1003555
-
(2013)
PLoS Genet
, vol.9
, pp. e1003555
-
-
Cho, K.I.1
Haque, M.2
Wang, J.3
-
42
-
-
84856401869
-
Photoreceptor structure and function in patients with congenital achromatopsia
-
M.A. Genead, G.A. Fishman, and J. Rha Photoreceptor structure and function in patients with congenital achromatopsia Invest Ophthalmol Vis Sci 52 2011 7298 7308
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 7298-7308
-
-
Genead, M.A.1
Fishman, G.A.2
Rha, J.3
-
43
-
-
0842322749
-
Molecular basis of an inherited form of incomplete achromatopsia
-
D. Trankner, H. Jagle, and S. Kohl Molecular basis of an inherited form of incomplete achromatopsia J Neurosci 24 2004 138 147
-
(2004)
J Neurosci
, vol.24
, pp. 138-147
-
-
Trankner, D.1
Jagle, H.2
Kohl, S.3
-
44
-
-
84947358863
-
Saturation of the rod mechanism of the retina at high levels of stimulation
-
M. Aguilar, and W.S. Stiles Saturation of the rod mechanism of the retina at high levels of stimulation Opt Acta 1 1954 59 65
-
(1954)
Opt Acta
, vol.1
, pp. 59-65
-
-
Aguilar, M.1
Stiles, W.S.2
-
45
-
-
0024543956
-
Modulation of rod-cone coupling by light
-
X.L. Yang, and S.M. Wu Modulation of rod-cone coupling by light Science 244 1989 352 354
-
(1989)
Science
, vol.244
, pp. 352-354
-
-
Yang, X.L.1
Wu, S.M.2
-
46
-
-
84876806180
-
Ambient illumination toggles a neuronal circuit switch in the retina and visual perception at cone threshold
-
K. Farrow, M. Teixeira, and T. Szikra Ambient illumination toggles a neuronal circuit switch in the retina and visual perception at cone threshold Neuron 78 2013 325 338
-
(2013)
Neuron
, vol.78
, pp. 325-338
-
-
Farrow, K.1
Teixeira, M.2
Szikra, T.3
-
47
-
-
0013815678
-
Typical total monochromacy. A histological and psychophysical study
-
H.F. Falls, J.R. Wolter, and M. Alpern Typical total monochromacy. A histological and psychophysical study Arch Ophthalmol 74 1965 610 616
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 610-616
-
-
Falls, H.F.1
Wolter, J.R.2
Alpern, M.3
-
48
-
-
0016709855
-
Receptors in the monochromat eye
-
M. Glickstein, and G.G. Heath Receptors in the monochromat eye Vision Res 15 1975 633 636
-
(1975)
Vision Res
, vol.15
, pp. 633-636
-
-
Glickstein, M.1
Heath, G.G.2
-
49
-
-
0001091427
-
Congenital total color blindness: A clincopathological report
-
R. Harrison, D. Hoefnagel, and J.N. Hayward Congenital total color blindness: a clincopathological report Arch Ophthalmol 64 1960 685 692
-
(1960)
Arch Ophthalmol
, vol.64
, pp. 685-692
-
-
Harrison, R.1
Hoefnagel, D.2
Hayward, J.N.3
-
50
-
-
84891626222
-
Retinal structure and function in achromatopsia: Implications for gene therapy
-
V. Sundaram, C. Wilde, and J. Aboshiha Retinal structure and function in achromatopsia: implications for gene therapy Ophthalmology 121 2014 234 245
-
(2014)
Ophthalmology
, vol.121
, pp. 234-245
-
-
Sundaram, V.1
Wilde, C.2
Aboshiha, J.3
-
51
-
-
79953735748
-
Progressive loss of cones in achromatopsia: An imaging study using spectral-domain optical coherence tomography
-
A.A. Thiadens, V. Somervuo, and L.I. van den Born Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography Invest Ophthalmol Vis Sci 51 2010 5952 5957
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 5952-5957
-
-
Thiadens, A.A.1
Somervuo, V.2
Van Den Born, L.I.3
-
55
-
-
77954166401
-
Gene therapy rescues cone function in congenital achromatopsia
-
A.M. Komaromy, J.J. Alexander, and J.S. Rowlan Gene therapy rescues cone function in congenital achromatopsia Hum Mol Genet 19 2010 2581 2593
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2581-2593
-
-
Komaromy, A.M.1
Alexander, J.J.2
Rowlan, J.S.3
-
56
-
-
84855611189
-
Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in 15 children and adults followed up to 3 years
-
S.G. Jacobson, A.V. Cideciyan, and R. Ratnakaram Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years Arch Ophthalmol 130 2012 9 24
-
(2012)
Arch Ophthalmol
, vol.130
, pp. 9-24
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Ratnakaram, R.3
|