Samuel G. Jacobson
Samuel G. Jacobson
Professor of Ophthalmology, University of Pennsylvania
Dirección de correo verificada de mail.med.upenn.edu
TítuloCitado porAño
Gene therapy restores vision in a canine model of childhood blindness
GM Acland, GD Aguirre, J Ray, Q Zhang, TS Aleman, AV Cideciyan, ...
Nature genetics 28 (1), 92, 2001
12852001
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
WW Hauswirth, TS Aleman, S Kaushal, AV Cideciyan, SB Schwartz, ...
Human gene therapy 19 (10), 979-990, 2008
9062008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
AV Cideciyan, TS Aleman, SL Boye, SB Schwartz, S Kaushal, AJ Roman, ...
Proceedings of the National Academy of Sciences 105 (39), 15112-15117, 2008
6562008
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
A Gal, Y Li, DA Thompson, J Weir, U Orth, SG Jacobson, ...
Nature genetics 26 (3), 270, 2000
6312000
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
CL Freund, CY Gregory-Evans, T Furukawa, M Papaioannou, J Looser, ...
Cell 91 (4), 543-553, 1997
5551997
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ...
Archives of ophthalmology 130 (1), 9-24, 2012
5262012
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
CH Sung, BG Schneider, N Agarwal, DS Papermaster, J Nathans
Proceedings of the National Academy of Sciences 88 (19), 8840-8844, 1991
5171991
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
GM Acland, GD Aguirre, J Bennett, TS Aleman, AV Cideciyan, J Bennicelli, ...
Molecular Therapy 12 (6), 1072-1082, 2005
4782005
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
CH Sung, CM Davenport, JC Hennessey, IH Maumenee, SG Jacobson, ...
Proceedings of the National Academy of Sciences 88 (15), 6481-6485, 1991
4641991
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
NB Haider, SG Jacobson, AV Cideciyan, R Swiderski, LM Streb, C Searby, ...
Nature genetics 24 (2), 127, 2000
4162000
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year
AV Cideciyan, WW Hauswirth, TS Aleman, S Kaushal, SB Schwartz, ...
Human gene therapy 20 (9), 999-1004, 2009
3552009
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ...
Nature genetics 31 (4), 435, 2002
3442002
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
AV Cideciyan, SG Jacobson, WA Beltran, A Sumaroka, M Swider, S Iwabe, ...
Proceedings of the National Academy of Sciences 110 (6), E517-E525, 2013
3392013
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, ...
Nature genetics 19 (3), 257, 1998
3221998
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
NT Bech-Hansen, MJ Naylor, TA Maybaum, RL Sparkes, B Koop, ...
Nature genetics 26 (3), 319, 2000
3172000
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
CL Freund, QL Wang, S Chen, BL Muskat, CD Wiles, VC Sheffield, ...
Nature genetics 18 (4), 311, 1998
3091998
Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa
RM Petters, CA Alexander, KD Wells, EB Collins, JR Sommer, ...
Nature biotechnology 15 (10), 965, 1997
3001997
Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina
J Bennett, AM Maguire, AV Cideciyan, M Schnell, E Glover, V Anand, ...
Proceedings of the National Academy of Sciences 96 (17), 9920-9925, 1999
2851999
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ...
Nature genetics 28 (2), 188, 2001
2752001
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001
2682001
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Artículos 1–20