-
1
-
-
34347130460
-
Über familiäre, progressive Degeneration in der Maculagegend des Auges
-
K. Stargardt Über familiäre, progressive Degeneration in der Maculagegend des Auges Albrecht von Graefes Arch Ophthalmol 71 1909 534 550
-
(1909)
Albrecht von Graefes Arch Ophthalmol
, vol.71
, pp. 534-550
-
-
Stargardt, K.1
-
2
-
-
0031940916
-
Long-term follow-up of Stargardt's disease and fundus flavimaculatus
-
J.D. Armstrong, D. Meyer, S. Xu, J.L. Elfervig Long-term follow-up of Stargardt's disease and fundus flavimaculatus Ophthalmology 105 1998 448 457
-
(1998)
Ophthalmology
, vol.105
, pp. 448-457
-
-
Armstrong, J.D.1
Meyer, D.2
Xu, S.3
Elfervig, J.L.4
-
3
-
-
0018308824
-
Stargardt's disease and fundus flavimaculatus
-
K.G. Noble, R.E. Carr Stargardt's disease and fundus flavimaculatus Arch Ophthalmol 97 1979 1281 1285
-
(1979)
Arch Ophthalmol
, vol.97
, pp. 1281-1285
-
-
Noble, K.G.1
Carr, R.E.2
-
4
-
-
0035012846
-
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
-
A.N. Yatsenko, N.F. Shroyer, R.A. Lewis, J.R. Lupski Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) Hum Genet 108 2001 346 355
-
(2001)
Hum Genet
, vol.108
, pp. 346-355
-
-
Yatsenko, A.N.1
Shroyer, N.F.2
Lewis, R.A.3
Lupski, J.R.4
-
5
-
-
0038321461
-
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
-
Y. Rotenstreich, G.A. Fishman, R.J. Anderson Visual acuity loss and clinical observations in a large series of patients with Stargardt disease Ophthalmology 110 2003 1151 1158
-
(2003)
Ophthalmology
, vol.110
, pp. 1151-1158
-
-
Rotenstreich, Y.1
Fishman, G.A.2
Anderson, R.J.3
-
6
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
R. Allikmets, N. Singh, H. Sun A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 15 1997 236 246
-
(1997)
Nat Genet
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
-
7
-
-
0033936893
-
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
-
L.L. Molday, A.R. Rabin, R.S. Molday ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy Nat Genet 25 2000 257 258
-
(2000)
Nat Genet
, vol.25
, pp. 257-258
-
-
Molday, L.L.1
Rabin, A.R.2
Molday, R.S.3
-
8
-
-
0033775698
-
Biochemical defects in ABCR protein variants associated with human retinopathies
-
H. Sun, P.M. Smallwood, J. Nathans Biochemical defects in ABCR protein variants associated with human retinopathies Nat Genet 26 2000 242 246
-
(2000)
Nat Genet
, vol.26
, pp. 242-246
-
-
Sun, H.1
Smallwood, P.M.2
Nathans, J.3
-
9
-
-
77949503904
-
Phospholipid meets all-trans-retinal: The making of RPE bisretinoids
-
J.R. Sparrow, Y. Wu, C.Y. Kim, J. Zhou Phospholipid meets all-trans-retinal: the making of RPE bisretinoids J Lipid Res 51 2010 247 261
-
(2010)
J Lipid Res
, vol.51
, pp. 247-261
-
-
Sparrow, J.R.1
Wu, Y.2
Kim, C.Y.3
Zhou, J.4
-
10
-
-
0034800655
-
A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8
-
Age-Related Eye Disease Study Research Group
-
Age-Related Eye Disease Study Research Group A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8 Arch Ophthalmol 119 2001 1417 1436
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 1417-1436
-
-
-
11
-
-
1942533542
-
Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration
-
R.A. Radu, N.L. Mata, A. Bagla, G.H. Travis Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration Proc Natl Acad Sci U S A 101 2004 5928 5933
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 5928-5933
-
-
Radu, R.A.1
Mata, N.L.2
Bagla, A.3
Travis, G.H.4
-
12
-
-
53149096200
-
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation
-
R.A. Radu, Q. Yuan, J. Hu Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation Invest Ophthalmol Vis Sci 49 2008 3821 3829
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 3821-3829
-
-
Radu, R.A.1
Yuan, Q.2
Hu, J.3
-
13
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
F.P.M. Cremers, D.J. van de Pol, M. van Driel Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR Hum Mol Genet 7 1998 355 362
-
(1998)
Hum Mol Genet
, vol.7
, pp. 355-362
-
-
Cremers, F.P.M.1
Van De Pol, D.J.2
Van Driel, M.3
-
16
-
-
0033237315
-
The 2588G - >c mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
-
A. Maugeri, M.A. van Driel, D.J. van de Pol The 2588G - >C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease Am J Hum Genet 64 1999 1024 1035
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1024-1035
-
-
Maugeri, A.1
Van Driel, M.A.2
Van De Pol, D.J.3
-
17
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
R. Allikmets, N.F. Shroyer, N. Singh Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration Science 277 1997 1805 1807
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
-
18
-
-
0033859128
-
Further evidence for an association of ABCR alleles with age-related macular degeneration
-
International ABCR Screening Consortium
-
R. Allikmets International ABCR Screening Consortium Further evidence for an association of ABCR alleles with age-related macular degeneration Am J Hum Genet 67 2000 487 491
-
(2000)
Am J Hum Genet
, vol.67
, pp. 487-491
-
-
Allikmets, R.1
-
19
-
-
0035024249
-
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
-
R.H. Guymer, E. Heon, A.J. Lotery Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration Arch Ophthalmol 119 2001 745 751
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 745-751
-
-
Guymer, R.H.1
Heon, E.2
Lotery, A.J.3
-
20
-
-
0035510172
-
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
-
N.F. Shroyer, R.A. Lewis, A.N. Yatsenko Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration Hum Mol Genet 10 2001 2671 2678
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2671-2678
-
-
Shroyer, N.F.1
Lewis, R.A.2
Yatsenko, A.N.3
-
21
-
-
0032796491
-
Age-related macular degeneration in grandparents of patients with Stargardt disease: Genetic study
-
E.H. Souied, D. Ducroq, S. Gerber Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study Am J Ophthalmol 128 1999 173 178
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 173-178
-
-
Souied, E.H.1
Ducroq, D.2
Gerber, S.3
-
22
-
-
0013813897
-
A special form of tapetoretinal degeneration: Fundus flavimaculatus
-
A. Franceschetti A special form of tapetoretinal degeneration: fundus flavimaculatus Trans Am Acad Ophthalmol Otolaryngol 69 1965 1048 1053
-
(1965)
Trans Am Acad Ophthalmol Otolaryngol
, vol.69
, pp. 1048-1053
-
-
Franceschetti, A.1
-
23
-
-
0032900958
-
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
-
G.A. Fishman, E.M. Stone, S. Grover Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 1999 504 510
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 504-510
-
-
Fishman, G.A.1
Stone, E.M.2
Grover, S.3
-
24
-
-
38649123067
-
ISCEV guidelines for clinical multifocal electroretinography (2007 edition)
-
D.C. Hood, M. Bach, M. Brigell ISCEV guidelines for clinical multifocal electroretinography (2007 edition) Doc Ophthalmol 116 2008 1 11
-
(2008)
Doc Ophthalmol
, vol.116
, pp. 1-11
-
-
Hood, D.C.1
Bach, M.2
Brigell, M.3
-
25
-
-
59049100882
-
ISCEV standard for full-field clinical electroretinography (2008 update)
-
International Society for Clinical Electrophysiology of Vision
-
M.F. Marmor, A.B. Fulton, G.E. Holder International Society for Clinical Electrophysiology of Vision 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
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
S.A. Miller, D.D. Dykes, H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
27
-
-
10744227207
-
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
-
K. Jaakson, J. Zernant, M. Kulm Genotyping microarray (gene chip) for the ABCR (ABCA4) gene Hum Mutat 22 2003 395 403
-
(2003)
Hum Mutat
, vol.22
, pp. 395-403
-
-
Jaakson, K.1
Zernant, J.2
Kulm, M.3
-
28
-
-
35748966739
-
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
-
C.J. Boon, M.J. van Schooneveld, A.I. den Hollander Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus Br J Ophthalmol 91 2007 1504 1511
-
(2007)
Br J Ophthalmol
, vol.91
, pp. 1504-1511
-
-
Boon, C.J.1
Van Schooneveld, M.J.2
Den Hollander, A.I.3
-
29
-
-
46549086021
-
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
-
C.J. Boon, A.I. den Hollander, C.B. Hoyng The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene Prog Retin Eye Res 27 2008 213 235
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 213-235
-
-
Boon, C.J.1
Den Hollander, A.I.2
Hoyng, C.B.3
-
31
-
-
85047697453
-
The ABCA4 2588G>C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
-
A. Maugeri, K. Flothmann, N. Hemmrich The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe Eur J Hum Genet 10 2002 197 203
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 197-203
-
-
Maugeri, A.1
Flothmann, K.2
Hemmrich, N.3
-
32
-
-
33644819817
-
Fundus flavimaculatus and choroidal neovascularization [in French]
-
D. Pawlak, E. Souied, G. Mimoun Fundus flavimaculatus and choroidal neovascularization [in French] J Fr Ophthalmol 29 2006 188 194
-
(2006)
J Fr Ophthalmol
, vol.29
, pp. 188-194
-
-
Pawlak, D.1
Souied, E.2
Mimoun, G.3
-
33
-
-
23744449379
-
Photodynamic therapy for choroidal neovascularization on late-onset fundus flavimaculatus
-
E.H. Souied, D. Pawlak, M. Algan Photodynamic therapy for choroidal neovascularization on late-onset fundus flavimaculatus Am J Ophthalmol 140 2005 312 314
-
(2005)
Am J Ophthalmol
, vol.140
, pp. 312-314
-
-
Souied, E.H.1
Pawlak, D.2
Algan, M.3
-
34
-
-
0032878143
-
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
-
E.H. Souied, D. Ducroq, J.M. Rozet A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus Invest Ophthalmol Vis Sci 40 1999 2740 2744
-
(1999)
Invest Ophthalmol Vis Sci
, vol.40
, pp. 2740-2744
-
-
Souied, E.H.1
Ducroq, D.2
Rozet, J.M.3
-
36
-
-
0035092144
-
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
N. Lois, G.E. Holder, C. Bunce Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus Arch Ophthalmol 119 2001 359 369
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 359-369
-
-
Lois, N.1
Holder, G.E.2
Bunce, C.3
-
38
-
-
0028953831
-
In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics
-
F.C. Delori, C.K. Dorey, G. Staurenghi In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics Invest Ophthalmol Vis Sci 36 1995 718 729
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
, pp. 718-729
-
-
Delori, F.C.1
Dorey, C.K.2
Staurenghi, G.3
-
39
-
-
27244432447
-
Classification of fundus autofluorescence patterns in early age-related macular disease
-
A. Bindewald, A.C. Bird, S.S. Dandekar Classification of fundus autofluorescence patterns in early age-related macular disease Invest Ophthalmol Vis Sci 46 2005 3309 3314
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3309-3314
-
-
Bindewald, A.1
Bird, A.C.2
Dandekar, S.S.3
-
40
-
-
0035069027
-
Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration
-
F.G. Holz, C. Bellman, S. Staudt Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration Invest Ophthalmol Vis Sci 42 2001 1051 1056
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1051-1056
-
-
Holz, F.G.1
Bellman, C.2
Staudt, S.3
-
41
-
-
79956294971
-
Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration
-
R.A. Radu, J. Hu, Q. Yuan Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration J Biol Chem 286 2011 18593 18601
-
(2011)
J Biol Chem
, vol.286
, pp. 18593-18601
-
-
Radu, R.A.1
Hu, J.2
Yuan, Q.3
-
44
-
-
40849106402
-
Macular dystrophy associated with the A3243G mitochondrial DNA mutation: Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members
-
M. Michaelides, S.A. Jenkins, D.E. Bamiou Macular dystrophy associated with the A3243G mitochondrial DNA mutation: distinct retinal and associated features, disease variability, and characterization of asymptomatic family members Arch Ophthalmol 126 2008 320 328
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 320-328
-
-
Michaelides, M.1
Jenkins, S.A.2
Bamiou, D.E.3
-
45
-
-
79952198470
-
The ATP-binding cassette transporter ABCA4: Structural and functional properties and role in retinal disease
-
Y. Tsybovsky, R.S. Molday, K. Palczewski The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease Adv Exp Med Biol 703 2010 105 125
-
(2010)
Adv Exp Med Biol
, vol.703
, pp. 105-125
-
-
Tsybovsky, Y.1
Molday, R.S.2
Palczewski, K.3
-
46
-
-
26444510862
-
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
-
W. Wiszniewski, C.M. Zaremba, A.N. Yatsenko ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies Hum Mol Genet 14 2005 2769 2778
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2769-2778
-
-
Wiszniewski, W.1
Zaremba, C.M.2
Yatsenko, A.N.3
-
47
-
-
77953506510
-
Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal
-
E.E. Biswas-Fiss, D.S. Kurpad, K. Joshi, S.B. Biswas Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal J Biol Chem 285 2010 19372 19383
-
(2010)
J Biol Chem
, vol.285
, pp. 19372-19383
-
-
Biswas-Fiss, E.E.1
Kurpad, D.S.2
Joshi, K.3
Biswas, S.B.4
-
48
-
-
0034944895
-
Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: Implications for involvement of ABCR in age-related macular degeneration
-
N.L. Mata, R.T. Tzekoy, X. Liu Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration Invest Ophthalmol Vis Sci 42 2001 1685 1690
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1685-1690
-
-
Mata, N.L.1
Tzekoy, R.T.2
Liu, X.3
-
49
-
-
0033804333
-
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
-
A. Rivera, K. White, H. Stohr A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration Am J Hum Genet 67 2000 800 813
-
(2000)
Am J Hum Genet
, vol.67
, pp. 800-813
-
-
Rivera, A.1
White, K.2
Stohr, H.3
-
50
-
-
35548994087
-
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
-
Accessed November 25, 2011
-
T. Rosenberg, F. Klie, P. Garred, M. Schwartz N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population Mol Vis [serial online] 13 2007 1962 1969 http://www.molvis.org/molvis/v13/a221/ Accessed November 25, 2011
-
(2007)
Mol Vis [Serial Online]
, vol.13
, pp. 1962-1969
-
-
Rosenberg, T.1
Klie, F.2
Garred, P.3
Schwartz, M.4
-
51
-
-
0037077270
-
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration
-
T. Suarez, S.B. Biswas, E.E. Biswas Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration J Biol Chem 277 2002 21759 21767
-
(2002)
J Biol Chem
, vol.277
, pp. 21759-21767
-
-
Suarez, T.1
Biswas, S.B.2
Biswas, E.E.3
-
52
-
-
63649120784
-
Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases
-
M. Zhong, L.L. Molday, R.S. Molday Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases J Biol Chem 284 2009 3640 3649
-
(2009)
J Biol Chem
, vol.284
, pp. 3640-3649
-
-
Zhong, M.1
Molday, L.L.2
Molday, R.S.3
|