-
2
-
-
77952889862
-
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa
-
Walia S, Fishman GA, Jacobson SG, et al. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology. 2010;117:1190-1198.
-
(2010)
Ophthalmology
, vol.117
, pp. 1190-1198
-
-
Walia, S.1
Fishman, G.A.2
Jacobson, S.G.3
-
3
-
-
84973601319
-
Leber congenital amaurosis
-
Seattle: University of Washington, SeattleJuly 27, 2004 [updated March 30, 2010]
-
Weleber RG, Francis P, Trzupek K. Leber congenital amaurosis. GeneReviews [Internet]. Seattle: University of Washington, Seattle; 1993. July 27, 2004 [updated March 30, 2010].
-
(1993)
GeneReviews [Internet]
-
-
Weleber, R.G.1
Francis, P.2
Trzupek, K.3
-
4
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27:391-419.
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 391-419
-
-
den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
5
-
-
36248964755
-
Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LX Intravenous Edward Jackson Memorial Lecture
-
Stone EM. Leber congenital amaurosis-a model for efficient genetic testing of heterogeneous disorders: LX Intravenous Edward Jackson Memorial Lecture. Am J Ophthalmol. 2007;144:791-811.
-
(2007)
Am J Ophthalmol
, vol.144
, pp. 791-811
-
-
Stone, E.M.1
-
6
-
-
0344420017
-
The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development
-
van der Spuy J, Kim JH, Yu YS, et al. The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. Invest Ophthalmol Vis Sci. 2003;44: 5396-5403.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 5396-5403
-
-
van der Spuy, J.1
Kim, J.H.2
Yu, Y.S.3
-
7
-
-
0242331665
-
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
-
Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc Natl Acad Sci U S A. 2003;100:12630-12635.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 12630-12635
-
-
Ramamurthy, V.1
Roberts, M.2
van den Akker, F.3
Niemi, G.4
Reh, T.A.5
Hurley, J.B.6
-
8
-
-
4644256600
-
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
-
Liu X, Bulgakov OV, Wen XH, et al. AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. Proc Natl Acad Sci U S A. 2004;101:13903-13908.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 13903-13908
-
-
Liu, X.1
Bulgakov, O.V.2
Wen, X.H.3
-
9
-
-
0034853668
-
Unfolding retinal dystrophies: A role for molecular chaperones
-
Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME. Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med. 2001;7:414-421.
-
(2001)
Trends Mol Med
, vol.7
, pp. 414-421
-
-
Chapple, J.P.1
Grayson, C.2
Hardcastle, A.J.3
Saliba, R.S.4
van der Spuy, J.5
Cheetham, M.E.6
-
10
-
-
71449097363
-
AIPL1, a protein associated with childhood blindness, interacts with alphasubunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly
-
Kolandaivelu S, Huang J, Hurley JB, Ramamurthy V. AIPL1, a protein associated with childhood blindness, interacts with alphasubunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. J Biol Chem. 2009;284:30853-30861.
-
(2009)
J Biol Chem
, vol.284
, pp. 30853-30861
-
-
Kolandaivelu, S.1
Huang, J.2
Hurley, J.B.3
Ramamurthy, V.4
-
12
-
-
0037108934
-
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1
-
Akey DT, Zhu X, Dyer M, et al. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum Mol Genet. 2002;11:2723-2733.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2723-2733
-
-
Akey, D.T.1
Zhu, X.2
Dyer, M.3
-
13
-
-
0036537524
-
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
-
van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum Mol Genet. 2002;11:823-831.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 823-831
-
-
van der Spuy, J.1
Chapple, J.P.2
Clark, B.J.3
Luthert, P.J.4
Sethi, C.S.5
Cheetham, M.E.6
-
14
-
-
77950647146
-
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
-
Kirschman LT, Kolandaivelu S, Frederick JM, et al. The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. Hum Mol Genet. 2010; 19:1076-1087.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1076-1087
-
-
Kirschman, L.T.1
Kolandaivelu, S.2
Frederick, J.M.3
-
15
-
-
16744367868
-
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
-
Sohocki MM, Perrault I, Leroy BP, et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab. 2000;70:142-150.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 142-150
-
-
Sohocki, M.M.1
Perrault, I.2
Leroy, B.P.3
-
16
-
-
79952217011
-
Human retinal disease from AIPL1 gene mutations: Foveal cone loss with minimal macular photoreceptors and rod function remaining
-
Jacobson SG, Cideciyan AV, Aleman TS, et al. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci. 2011;52:70-79.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 70-79
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
-
17
-
-
0033985972
-
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
-
Sohocki MM, Bowne SJ, Sullivan LS, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 2000;24:79-83.
-
(2000)
Nat Genet
, vol.24
, pp. 79-83
-
-
Sohocki, M.M.1
Bowne, S.J.2
Sullivan, L.S.3
-
18
-
-
3342907163
-
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
-
Dharmaraj S, Leroy BP, Sohocki MM, et al. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol. 2004;122:1029-1037.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 1029-1037
-
-
Dharmaraj, S.1
Leroy, B.P.2
Sohocki, M.M.3
-
19
-
-
26844436412
-
Evaluation of genotype-phenotype associations in leber congenital amaurosis
-
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina. 2005;25:919-929.
-
(2005)
Retina
, vol.25
, pp. 919-929
-
-
Galvin, J.A.1
Fishman, G.A.2
Stone, E.M.3
Koenekoop, R.K.4
-
20
-
-
74349104948
-
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
-
Sun X, Pawlyk B, Xu X, et al. Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther. 2010;17:117-131.
-
(2010)
Gene Ther
, vol.17
, pp. 117-131
-
-
Sun, X.1
Pawlyk, B.2
Xu, X.3
-
21
-
-
66149101630
-
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: Effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
-
Tan MH, Smith AJ, Pawlyk B, et al. Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum Mol Genet. 2009;18:2099-2114.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2099-2114
-
-
Tan, M.H.1
Smith, A.J.2
Pawlyk, B.3
-
22
-
-
4744361095
-
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
-
Weleber RG, Gupta N, Trzupek KM, Wepner MS, Kurz DE, Milam AH. Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). Mol Genet Metab. 2004;83:128-137.
-
(2004)
Mol Genet Metab
, vol.83
, pp. 128-137
-
-
Weleber, R.G.1
Gupta, N.2
Trzupek, K.M.3
Wepner, M.S.4
Kurz, D.E.5
Milam, A.H.6
-
23
-
-
0019413127
-
The effect of age on human cone and rod Ganzfeld electroretinograms
-
Weleber RG. The effect of age on human cone and rod Ganzfeld electroretinograms. Invest Ophthalmol Vis Sci. 1981;20:392-399.
-
(1981)
Invest Ophthalmol Vis Sci
, vol.20
, pp. 392-399
-
-
Weleber, R.G.1
-
24
-
-
59049100882
-
ISCEV Standard for full-field clinical electroretinography (2008 update)
-
Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118:69-77.
-
(2009)
Doc Ophthalmol
, vol.118
, pp. 69-77
-
-
Marmor, M.F.1
Fulton, A.B.2
Holder, G.E.3
Miyake, Y.4
Brigell, M.5
Bach, M.6
-
25
-
-
58249093371
-
Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies
-
Schiefer U, Pascual JP, Edmunds B, et al. Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies. Invest Ophthalmol Vis Sci. 2009;50:488-494.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 488-494
-
-
Schiefer, U.1
Pascual, J.P.2
Edmunds, B.3
-
26
-
-
44249120315
-
Effect of gene therapy on visual function in Leber's congenital amaurosis
-
Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008;358:2231-2239.
-
(2008)
N Engl J Med
, vol.358
, pp. 2231-2239
-
-
Bainbridge, J.W.1
Smith, A.J.2
Barker, S.S.3
-
27
-
-
54449085219
-
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
-
Cideciyan AV, Aleman TS, Boye SL, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008;105: 15112-15117.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 15112-15117
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Boye, S.L.3
-
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, et al. 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. 2008;19:979-990.
-
(2008)
Hum Gene Ther
, vol.19
, pp. 979-990
-
-
Hauswirth, W.W.1
Aleman, T.S.2
Kaushal, S.3
-
29
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248.
-
(2008)
N Engl J Med
, vol.358
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
-
30
-
-
78650093375
-
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: Human gene therapy initiated in Israel
-
Banin E, Bandah-Rozenfeld D, Obolensky A, et al. Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. Hum Gene Ther. 2010;21:1749-1757.
-
(2010)
Hum Gene Ther
, vol.21
, pp. 1749-1757
-
-
Banin, E.1
Bandah-Rozenfeld, D.2
Obolensky, A.3
-
31
-
-
26244455367
-
Predominant rod photoreceptor degeneration in Leber congenital amaurosis
-
van der Spuy J, Munro PM, Luthert PJ, et al. Predominant rod photoreceptor degeneration in Leber congenital amaurosis. Mol Vis. 2005;11:542-553.
-
(2005)
Mol Vis
, vol.11
, pp. 542-553
-
-
van der Spuy, J.1
Munro, P.M.2
Luthert, P.J.3
-
32
-
-
80053316934
-
Evaluation of Italian patients with Leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy
-
Testa F, Surace EM, Rossi S, et al. Evaluation of Italian patients with Leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. Invest Ophthalmol Vis Sci. 2011;52:5618-5624.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 5618-5624
-
-
Testa, F.1
Surace, E.M.2
Rossi, S.3
-
33
-
-
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
-
Hanein S, Perrault I, Gerber S, et al. 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;23:306-317.
-
(2004)
Hum Mutat
, vol.23
, pp. 306-317
-
-
Hanein, S.1
Perrault, I.2
Gerber, S.3
-
34
-
-
78650351306
-
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark
-
Lalwani K, Tompkins BD, Burnes K, Krahmer MR, Pennesi ME, Weleber RG. The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark. Paediatr Anaesth. 2011;21:65-71.
-
(2011)
Paediatr Anaesth
, vol.21
, pp. 65-71
-
-
Lalwani, K.1
Tompkins, B.D.2
Burnes, K.3
Krahmer, M.R.4
Pennesi, M.E.5
Weleber, R.G.6
|