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PubMed for papers authored by “Cideciyan A”
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132. Jacobson SG, Sumaroka
A, Luo X, Cideciyan
AV. Retinal
optogenetic therapies: clinical criteria for
candidacy. Clin Genet. 2013 (in
press). [PubMed]
131. Sadigh
S, Cideciyan AV, Sumaroka
A, Huang WC, Luo X, Swider M, Steinberg JD,
Stambolian D, Jacobson SG. Abnormal thickening as well as thinning of the photoreceptor layer in
intermediate age-related macular degeneration. Investigative Ophthalmology & Visual Science 54:1603-1612. [PubMed]
130. Roman AJ, Cideciyan AV, Schwartz SB, Olivares
MB, Heon E, Jacobson SG. Intervisit variability of
visual parameters in Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science 54:1378-1383,
2013. [PubMed]
129. Cideciyan
AV,
Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB,
Schwartz SB, Komaromy AM, Hauswirth WW, Aguirre GD. Human retinal gene therapy
for Leber congenital amaurosis
shows advancing retinal degeneration despite enduring visual improvement. Proceedings of the National Academy of
Sciences 110:E517-25, 2013. [PubMed]
[NEI
News Brief] [Penn
News] [Commentary]
128. Jacobson SG, Cideciyan AV, Peshenko
IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB,
Roman AJ, Olivares MB, Sadigh S, Yau
K-W, Heon E, Stone EM, Dizhoor AM. Determining
consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber
congenital amaurosis en route to therapy: residual
cone-photoreceptor vision correlates with biochemical properties of the
mutants. Human Molecular Genetics,
22:168-183, 2013. [PubMed]
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127. Huang WC, Wright AF,
Roman AJ, Cideciyan AV,
Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P,
Wilson JM, Swaroop A, Jacobson SG. RPGR-associated retinal
degeneration in human X-linked RP and a murine model.
Investigative Ophthalmology & Visual
Science 53:5594–5608, 2012. [PubMed]
126. Beltran WA, Cideciyan AV, Lewin AS, Iwabe1 S,
Khanna H, Sumaroka A, Chiodo VA, Fajardo
DS, Román AJ, Deng W-T, Swider M, Alemán
TS, Boye SL, Genini S, Swaroop A, Hauswirth WW,
Jacobson SG, Aguirre GD. Gene therapy rescues photoreceptor blindness in dogs
and paves the way for treating human X-linked retinitis pigmentosa.
Proceedings of the National Academy of
Sciences 109:2132-2137, 2012. [PubMed]
[Penn
News]
125. Humayun MS, Dorn JD, da
Cruz L, Dagnelie G, Sahel J-A, Stanga
PE, Cideciyan AV, Duncan JL, Eliott D, Filley E, Ho AC, Santos
A, Safran AB, Arditi A, Del
Priore LV, Greenberg RJ for the Argus II Study Group.
Interim results from the international trial of Second
Sight’s visual prosthesis. Ophthalmology 119:779-788, 2012. [PubMed]
124. Cideciyan AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, Steinberg JD, Stone EM,
Jacobson SG. Macular function in macular degenerations: Repeatability of microperimetry as a potential outcome measure for ABCA4-associated
retinopathy trials. Investigative
Ophthalmology & Visual Science 53:841–852, 2012. [PubMed]
123. Dinculescu
A, Estreicher J, Zenteno JC,
Aleman TS, Schwartz SB, Huang WC, Roman AJ, Sumaroka A, Li Q, Deng W-T, Min
S-H, Chiodo VA, Neeley A,
Liu X, Shu X, Matias-Florentino
M, Buentello-Volante B, Boye SL, Cideciyan AV, Hauswirth WW,
Jacobson SG. Gene therapy for retinitis pigmentosa
caused by MFRP (Membrane-type Frizzled Related Protein) mutations: Human
phenotype and preliminary proof-of-concept. Human
Gene Therapy 23:367-376, 2012. [PubMed]
122. Jacobson SG, Cideciyan AV, Ratnakaram
R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman
TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang
J-J, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone
A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for Leber congenital amaurosis caused
by RPE65 mutations: Safety and efficacy in fifteen children and adults followed
up to three years. Archives of
Ophthalmology 130:9-24, 2012. [PubMed]
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121. Stone EM, Luo X, Heon E, Lam BL, Weleber
RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka
A, Schwartz SB, Cideciyan AV,
Jacobson SG. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investigative Ophthalmology & Visual
Science, 52:9665–9673, 2011. [PubMed]
120. Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A,
Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Kenna
MA, Kimberling WJ, Rehm HL, Williams DS. Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Investigative Ophthalmology & Visual
Science, 52:7924-36, 2011. [PubMed]
119. Aleman TS, Cideciyan AV, Aguirre GK, Huang WC,
Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP,
Stone EM, Bell P, Wilson JM, Jacobson SG. Human CRB1-associated retinal
degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual
Science, 52:6898-6910, 2011. [PubMed]
118. Mustafi
D, Kevany BM, Genoud C,
Okano K, Cideciyan AV,
Sumaroka A, Roman AJ, Jacobson SG, Engel A, Adams MD, Palczewski K. Defective
photoreceptor phagocytosis in a mouse model of
enhanced S-cone syndrome causes progressive retinal degeneration. FASEB Journal, 25:3157-3176, 2011. [PubMed]
117. Zelinger
L, Banin E, Obolensky A, Mizrahi-Meissonnier
L, Beryotzkin A, Bandah-Rozenfeld
D, Ben Yosef T, Merin S,
Schwartz SB, Cideciyan AV,
Jacobson SG, Sharon D. A missense mutation in DHDDS,
encoding dehydrodolichyl diphosphate
synthase, is associated with autosomal-recessive
retinitis pigmentosa in Ashkenazi Jews. American Journal of Human Genetics,
88:207-215, 2011. [PubMed]
116. Cideciyan AV, Rachel RA, Aleman TS,
Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone AM, Jacobson SG, Swaroop A.
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or
NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph
mouse that mimics the human retinal ciliopathy. Human Molecular Genetics, 20:1411-1423,
2011. [PubMed]
115. Sakami S, Maeda T, Bereta G, Okano K, Golczak M,
Sumaroka A, Roman AJ, Cideciyan AV,
Jacobson SG, Palczewski K. Probing mechanisms of photoreceptor degeneration in
a new mouse model of the common form of autosomal
dominant retinitis pigmentosa due to P23H opsin mutations. Journal
of Biological Chemistry, 286:10551-10567, 2011. [PubMed]
114. Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger
MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton
AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in
patients with nonsyndromic Leber
congenital amaurosis (LCA) and Senior-Loken syndrome. Archives of
Ophthalmology, 129:81-87, 2011. [PubMed]
113. Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka
A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease
from AIPL1 gene mutations: foveal cone loss with
minimal macular photoreceptors and rod function remaining. Investigative Ophthalmology & Visual Science, 52:70-79, 2011. [PubMed]
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112.
Jacobson SG, Cideciyan AV.
Treatment
possibilities for retinitis pigmentosa. New England Journal of Medicine,
363:1669-1671, 2010. [PubMed]
111.
Banin E, Bandah-Rosenfeld D, Obolensky
A, Cideciyan AV, Aleman
TS, Marks-Ohana D, Sela M,
Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Sharon Dror. Molecular anthropology meets genetic medicine to
treat blindness in the north african
jewish population: Human gene therapy initiated in
Israel. Human Gene Therapy,
21:1749-1757, 2010. [PubMed]
110.
Caruso RC, Aleman TS, Cideciyan AV,
Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG. Retinal
disease in Rpe65-deficient mice: comparison to human Leber
congenital amaurosis due to RPE65 mutations. Investigative Ophthalmology & Visual
Science, 51:5304-5313, 2010. [PubMed]
109.
Cideciyan AV. Leber congenital amaurosis due to
RPE65 mutations and its treatment with gene therapy. Progress in Retinal and Eye Research, 29:398-427, 2010. [PubMed]
108.
Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EAM, Atkinson
LA, Schwartz SB, Steinberg JD, Cideciyan
AV. Normal central retinal function and structure preserved in
retinitis pigmentosa. Investigative Ophthalmology & Visual
Science, 51:1079 –1085, 2010. [PubMed]
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107.
Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad
VL, Herrera W, Windsor EAM, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel
G, Stone EM, Fishman GA, Jacobson SG. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner
retinopathy. Investigative Ophthalmology
& Visual Science, 50:5944-5954, 2009. [PubMed]
106.
Cideciyan AV, Hauswirth
WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL,
Windsor EAM, Conlon TJ, Sumaroka A, Pang J, Roman AJ, Byrne BJ, Jacobson SG.
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and
safety at 1 year. Human Gene Therapy,
20:999-1004, 2009. [PubMed] [Reprint]
105.
Gibbs D, Cideciyan AV,
Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice
with mutations in MYO7A: imaging melanosome-specific autofluorescence. Investigative
Ophthalmology & Visual Science, 50:4386-4393, 2009. [PubMed]
104.
Cideciyan AV, Hauswirth
WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL,
Windsor EAM, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG. Vision 1 year after gene therapy for Leber’s
congenital amaurosis. New England Journal of Medicine, 361:725-727, 2009. [PubMed]
[Reprint] [Free
Text in PubMed Central]
103.
Jacobson SG, Aleman TS, Cideciyan AV,
Sumaroka A, Schwartz SB, Windsor EAM, Swider M, Herrera W, Stone EM. Leber congenital amaurosis caused
by Lebercilin (LCA5) mutation: Retained
photoreceptors adjacent to retinal disorganization. Molecular Vision, 15:1098-1106, 2009. [PubMed]
102.
Maeda T, Cideciyan AV,
Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K. Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the
artificial chromophore pro-drug, 9-cis-retinyl
acetate. Human Molecular Genetics,
18:2277-2287, 2009. [PubMed]
101.
Jacobson SG, Aleman TS, Cideciyan AV,
Roman AJ, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Defining the residual vision in Leber
congenital amaurosis caused by RPE65 mutations.
Investigative Ophthalmology & Visual
Science, 50:2368-2375, 2009. [PubMed]
100.
Jacobson SG, Aleman TS, Sumaroka A, Cideciyan
AV, Roman AJ, Windsor EAM, Schwartz SB, Rehm
HL, Kimberling WJ. Disease boundaries in the retina of
patients with Usher syndrome caused by MYO7A gene mutations. Investigative Ophthalmology & Visual
Science, 50:1886-1894, 2009. [PubMed]
99.
Cideciyan AV, Swider M,
Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EAM,
Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4
disease progression and a proposed strategy for gene therapy. Human Molecular Genetics, 18:931-941,
2009. [PubMed] [Reprint] [Free
Text in PubMed Central]
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98.
Cideciyan AV, Aleman TS,
Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang J-j,
Sumaroka A, Windsor EAM, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM,
Byrne BJ, Jacobson SG, Hauswirth WW. Human gene therapy for RPE65-isomerase
deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National Academy of
Sciences, 105: 15112-15117, 2008. [PubMed]
[Reprint] [Free
Text in PubMed Central]
97.
Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L,
Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG. 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. Human Gene Therapy,
19:979-990, 2008. [PubMed]
96.
Aleman TS, Lam BL, Cideciyan AV,
Sumaroka A, Windsor EAM, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Genetic
heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic
wavelets. Eye, 23:230-233, 2008. [PubMed]
95.
Jacobson SG, Cideciyan AV,
Aleman TS, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with Leber
congenital amaurosis caused by RPE65 mutations.
Investigative Ophthalmology & Visual
Science, 49:4573-4577, 2008. [PubMed]
94.
Jacobson SG, Cideciyan AV,
Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra
M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ,
Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15,
USH2A or GPR98 mutations share retinal disease mechanism. Human Molecular Genetics, 17:2405-2415, 2008. [PubMed]
93.
Aleman TS, Cideciyan AV,
Sumaroka A, Windsor EAM, Herrera W, White DA, Kaushal
S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Retinal
laminar architecture in human retinitis pigmentosa
caused by Rhodopsin gene mutations. Investigative Ophthalmology & Visual
Science, 49:1580-1590, 2008. [PubMed]
92.
Kitiratschky VBD, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB,
Kellner U, Rudolph G, Jacobson SG, Cideciyan
AV, Schaich S, Kohl S, Wissinger
B. ABCA4 gene analysis in patients with autosomal
recessive cone and cone rod dystrophies. European
Journal of Human Genetics, 16:812-819, 2008. [PubMed]
91.
Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E,
Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EAM,
Schwartz SB, Stone EM, Liu X-Z, Kimberling WJ, Jacobson SG. Retinal
Disease in Usher Syndrome III Caused by Mutations in the Clarin-1 Gene. Investigative Ophthalmology & Visual
Science, 49:2651-2660, 2008. [PubMed]
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90.
Aleman TS, Cideciyan AV,
Sumaroka A, Schwartz SB, Roman AJ, Windsor EAM, Steinberg JD, Branham K, Othman
M, Swaroop A, Jacobson SG. Inner retinal abnormalities in
X-linked retinitis pigmentosa with RPGR mutations.
Investigative Ophthalmology & Visual
Science, 48:4759-4765, 2007. [PubMed]
89. Roman AJ, Boye SL, Aleman TS, Pang J-J, McDowell
JH, Boye SE, Cideciyan AV,
Jacobson SG, Hauswirth WW. Electroretinographic analyses
of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene
therapy trials of Leber congenital amaurosis. Molecular
Vision, 13:1701-1710, 2007. [PubMed]
88.
Jacobson SG, Aleman TS, Cideciyan AV,
Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz
SB, Windsor EAM, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone
photoreceptor dependence on RPE65 isomerase. Proceedings of the National Academy of
Sciences, 104:15123-15128, 2007. [PubMed]
87. Roman AJ, Cideciyan
AV, Aleman TS, Jacobson SG. Full-field stimulus
testing (FST) to quantify visual perception in severely blind candidates for
treatment trials. Physiological
Measurement, 28:N51-56, 2007. [PubMed]
86.
Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Alemán
TS, Roman AJ, Avants BB, Gee JC, Korczykowski
M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG. Canine and human visual
cortex intact and responsive despite early retinal blindness from RPE65
mutation. PLoS
Medicine,
4:e230, 2007. [PubMed]
85.
Cideciyan AV, Aleman TS,
Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EAM, He S,
Chang B, Stone EM, Swaroop A. Centrosomal-ciliary
gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of
photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Human Mutation, 28:1074-1083, 2007. [PubMed]
84.
Jacobson SG, Sumaroka A, Aleman TS, Cideciyan
AV, Danciger M, Farber DB. Evidence for retinal remodeling in retinitis pigmentosa
caused by PDE6B mutation. British
Journal of Ophthalmology 91:699-701, 2007. [PubMed]
83.
Jacobson SG, Cideciyan AV,
Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by RPGRIP1 mutation shows treatment
potential. Ophthalmology 114:895-898,
2007. [PubMed]
82.
Cideciyan AV, Swider M,
Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG. Reduced-illuminance autofluorescence
imaging in ABCA4-associated retinal degenerations. Journal of the Optical Society of
81.
Aleman TS, Cideciyan AV,
80.
Jacobson SG, Cideciyan AV,
Aleman TS, Sumaroka A, Schwartz SB,
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79.
Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, Cideciyan AV, Jacobson SG, Wright
AF. Biochemical characterisation of the C1QTNF5 gene
associated with late-onset retinal degeneration. A genetic
model of age-related macular degeneration. Advances in Experimental Medicine and Biology 572:41-8,
2006. [PubMed]
78.
Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EAM, Sumaroka A,
Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal
disease expression in Bardet-Biedl Syndrome-1 (BBS1)
is a spectrum from maculopathy to retina-wide
degeneration. Investigative Ophthalmology
& Visual Science 47: 5004-5010, 2006. [PubMed]
77.
Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ,
Roman AJ, Cideciyan AV,
Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE,
Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth
WW. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment
for blindness in Leber congenital amaurosis. Human Gene Therapy 17:845-58, 2006. [PubMed]
76.
Cheng H, Aleman TS, Cideciyan AV,
Khanna R, Jacobson SG, Swaroop A. In vivo function of the
orphan nuclear receptor NR2E3 in establishing photoreceptor identity during
mammalian retinal development. Human
Molecular Genetics 15:2588-602. [PubMed]
75.
Jacobson SG, Cideciyan AV,
Sumaroka A, Aleman TS, Schwartz SB, Windsor EAM, Roman AJ, Stone EM, MacDonald
IM. Remodeling of the human retina in choroideremia
- Rab Escort Protein 1 (REP-1) mutations. Investigative Ophthalmology & Visual
Science 47:4113-4120, 2006. [PubMed]
74.
Williams ML, Coleman JE, Haire SE, Aleman TS, Cideciyan AV, Sokal
I, Palczewski K, Jacobson SG, Semple-Rowland SL.
Lentiviral expression of retinal Guanylate Cyclase-1 (RetGC1) restores vision in an avian
model of childhood blindness. PLoS Medicine
3:e201, 2006. [PubMed]
73. Jacobson SG, Acland GM,
Aguirre GD, Aleman TS, Schwartz SB, Cideciyan
AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EAM, Sumaroka A,
Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL,
Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by
ocular subretinal injection. Molecular Therapy 13:1074-1084, 2006. [PubMed]
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72. Cideciyan
AV, Swider
M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM,
Jacobson SG. ABCA4-associated retinal
degenerations spare structure and function of the human parapapillary
retina. Investigative Ophthalmology &
Visual Science 46:4739–4746, 2005. [PubMed]
71. Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli
J, Dejneka NS, Pearce-Kelling SE, Maguire AM,
Palczewski K, Hauswirth WW, Jacobson SG. 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. Molecular Therapy 12:1072-1082, 2005. [PubMed]
70. Fishman GA, Jacobson SG, Alexander KR, Cideciyan AV, Birch DG, Weleber RG, Hood DC. Outcome measures and their application
in clinical trials for retinal degenerative diseases: Outline, review, and
perspective. Retina 25:772-777, 2005.
[PubMed]
69. Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz
SB, Windsor EAM, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM,
Bennett J. Identifying photoreceptors in blind eyes due to RPE65 mutations:
Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences 102:6177-6182,
2005. [PubMed]
68. Lebherz C, Maguire AM, Auricchio A, Tang W, Aleman TS, Wei Z, Grant R, Cideciyan AV, Jacobson SG, Wilson
JM, Bennett J. Nonhuman primate models for diabetic ocular neovascularization
using AAV2-mediated overexpression of vascular
endothelial growth factor. Diabetes
54:1141-1149, 2005. [PubMed]
67. Cideciyan
AV, Jacobson SG, Aleman TS, Gu D,
Pearce-Kelling SE, Sumaroka A, Acland GM, Aguirre GD. In vivo dynamics of retinal injury and repair in the rhodopsin mutant
dog model of human retinitis pigmentosa. Proceedings of the National Academy of
Sciences 102:5233-5238, 2005. [PubMed]
66. Schwartz SB, Aleman TS, Cideciyan
AV, Windsor EAM, Sumaroka A, Roman AJ, Rane
T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu X-Z, Jacobson SG. Disease
expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and
comparison with USH2A phenotype. Investigative
Ophthalmology & Visual Science 46:734–743, 2005. [PubMed]
65. Roman AJ, Schwartz SB, Aleman TS, Cideciyan AV, Chico JD, Windsor
EAM, Gardner LM, Ying G-Y, Smilko EE, Maguire MG, Jacobson SG. Quantifying
rod photoreceptor-mediated vision in retinal degenerations: dark-adapted
thresholds as outcome measures. Experimental
Eye Research 80:
259–272, 2005. [PubMed]
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64. Wright AF, Jacobson SG, Cideciyan
AV, Roman AJ, Shu X, Vlachantoni
D, McInnes RR, Riemersma
RA. Life span and mitochondrial control of neurodegeneration. Nature Genetics 36:1153-1158, 2004. [PubMed]
63. Wright AF, Reddick AC, Schwartz SB,
Ferguson JS, Aleman TS, Kellner U, Jurklies B,
Schuster A, Zrenner E, Wissinger
B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, and Swaroop A.
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Human Mutation 24:439,
2004. [PubMed]
62. Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes
RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human
retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics 13:1893-1902,
2004. [PubMed] [PDF]
61. Aleman TS, Jacobson SG, Chico JD, Scott ML, Cheung AY, Windsor EAM,
Furushima M, Redmond TM, Bennett J, Palczewski K, Cideciyan AV. Impairment of the
transient pupillary light reflex in Rpe65-/- mice and
humans with Leber congenital amaurosis. Investigative Ophthalmology
& Visual Science 45:1259-1271, 2004. [PubMed]
60. Cideciyan AV,
Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett
J, Stone EM, Jacobson SG. Mutations in ABCA4
result in accumulation of lipofuscin before slowing
of the retinoid cycle: A reappraisal of the human disease sequence. Human Molecular Genetics, 13:525-534,
2004. [PubMed]
59. Dejneka NS, Surace
EM, Aleman TS, Cideciyan AV,
Lyubarsky A, Savchenko A,
Redmond TM, Tang W, Wei Z, Rex TS, Glover E, Maguire AM, Pugh EN Jr, Jacobson
SG, Bennett J. In utero
gene therapy rescues vision in a murine model of
congenital blindness. Molecular Therapy,
9:182-188, 2004. [PubMed]
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58.
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27. Jacobson SG, Cideciyan AV, Huang Y, Hanna DB,
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22. Petters
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12. Jacobson SG, Cideciyan AV, Regunath
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