Kamu erişimi zorunlu olan makaleler - Edwin M. StoneDaha fazla bilgi edinin
Hiçbir yerde sunulmuyor: 7
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa
S Walia, GA Fishman, SG Jacobson, TS Aleman, RK Koenekoop, ...
Ophthalmology 117 (6), 1190-1198, 2010
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
Ranibizumab therapy for neovascular age-related macular degeneration
JC Folk, EM Stone
New England Journal of Medicine 363 (17), 1648-1655, 2010
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and …
BA Tucker, CM Cranston, KA Anfinson, S Shrestha, LM Streb, A Leon, ...
Translational Research 166 (6), 740-749. e1, 2015
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D
ML Stunkel, SE Brodie, AV Cideciyan, WL Pfeifer, EL Kennedy, EM Stone, ...
American journal of ophthalmology 190, 58-68, 2018
Zorunlu olanlar: US National Institutes of Health
Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11
K Mears, B Bakall, LA Harney, JA Penticoff, EM Stone
JAMA ophthalmology 133 (6), 720-721, 2015
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Apparent Usher syndrome caused by the combination of BBS1-associated retinitis pigmentosa and SLC26A4-associated deafness
AP DeLuca, MC Weed, CM Haas, JA Halder, EM Stone
JAMA ophthalmology 133 (8), 967-968, 2015
Zorunlu olanlar: Howard Hughes Medical Institute
Characterization of a novel Pde6b-deficient rat model of retinal degeneration and treatment with adeno-associated virus (AAV) gene therapy
IC Han, LA Wiley, D Ochoa, MJ Lang, BE Harman, KM Sheehan, ...
Gene therapy 30 (3), 362-368, 2023
Zorunlu olanlar: US National Institutes of Health
Bir yerde sunuluyor: 233
Safety and efficacy of gene transfer for Leber's congenital amaurosis
AM Maguire, F Simonelli, EA Pierce, EN Pugh Jr, F Mingozzi, J Bennicelli, ...
New England Journal of Medicine 358 (21), 2240-2248, 2008
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
S Russell, J Bennett, JA Wellman, DC Chung, ZF Yu, A Tillman, J Wittes, ...
The Lancet 390 (10097), 849-860, 2017
Zorunlu olanlar: US National Institutes of Health, Government of Italy
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
AM Maguire, KA High, A Auricchio, JF Wright, EA Pierce, F Testa, ...
The Lancet 374 (9701), 1597-1605, 2009
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute, Research …
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
Zorunlu olanlar: US National Institutes of Health
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
Zorunlu olanlar: US National Institutes of Health
Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease
EM Stone, JL Andorf, SS Whitmore, AP DeLuca, JC Giacalone, LM Streb, ...
Ophthalmology 124 (9), 1314-1331, 2017
Zorunlu olanlar: US National Institutes of Health
Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab
B Bakall, JC Folk, HC Boldt, EH Sohn, EM Stone, SR Russell, ...
American journal of ophthalmology 156 (1), 15-22. e1, 2013
Zorunlu olanlar: US National Institutes of Health
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
GS Zode, MH Kuehn, DY Nishimura, CC Searby, K Mohan, SD Grozdanic, ...
The Journal of clinical investigation 121 (9), 2011
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
WJ Kimberling, MS Hildebrand, AE Shearer, ML Jensen, JA Halder, ...
Genetics in Medicine 12 (8), 512-516, 2010
Zorunlu olanlar: US National Institutes of Health, Howard Hughes Medical Institute
Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration
AP Voigt, K Mulfaul, NK Mullin, MJ Flamme-Wiese, JC Giacalone, ...
Proceedings of the National Academy of Sciences 116 (48), 24100-24107, 2019
Zorunlu olanlar: US National Institutes of Health, US Department of Veterans Affairs
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
NE Braverman, GV Raymond, WB Rizzo, AB Moser, ME Wilkinson, ...
Molecular genetics and metabolism 117 (3), 313-321, 2016
Zorunlu olanlar: US National Institutes of Health
Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy
SS Whitmore, EH Sohn, KR Chirco, AV Drack, EM Stone, BA Tucker, ...
Progress in retinal and eye research 45, 1-29, 2015
Zorunlu olanlar: US National Institutes of Health
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
BA Tucker, TE Scheetz, RF Mullins, AP DeLuca, JM Hoffmann, ...
Proceedings of the National Academy of Sciences 108 (34), E569-E576, 2011
Zorunlu olanlar: US National Institutes of Health
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