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- [21] Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosisMOLECULAR THERAPY, 2021, 29 (08) : 2456 - 2468Aguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USACideciyan, Artur, V论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USADufour, Valerie L.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USARipolles-Garcia, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USASudharsan, Raghavi论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USASwider, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USANikonov, Roman论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USAIwabe, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USABoye, Sanford L.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Powell Gene Therapy Ctr, Dept Pediat, Gainesville, FL 32610 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USAHauswirth, William W.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Ophthalmol, Gainesville, FL 32610 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USABeltran, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Dept Clin Sci & Adv Med, Div Expt Retinal Therapies, Philadelphia, PA 19104 USA
- [22] Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital AmaurosisINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (13) : 7784 - 7793Bellingham, James论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandDavidson, Alice E.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandAboshiha, Jonathan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp NHS Fdn Trust, London, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandSimonelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Multidisciplinary Dept Med Surg & Dent Sci, Eye Clin, Naples, Italy UCL Inst Ophthalmol, London EC1V 9EL, EnglandBainbridge, James W.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp NHS Fdn Trust, London, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandMichaelides, Michel论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp NHS Fdn Trust, London, England UCL Inst Ophthalmol, London EC1V 9EL, Englandvan der Spuy, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England UCL Inst Ophthalmol, London EC1V 9EL, England
- [23] Identification of 3 Novel Mutations in LCA5 (Lebercilin) in Leber's Congenital Amaurosis FamiliesINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)Al-Araimi, M. S.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandPoulter, J. A.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandMcKibbin, M.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandBooth, A.论文数: 0 引用数: 0 h-index: 0机构: Peninsula Med Sch, Plymouth, Devon, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandMohammed, M.论文数: 0 引用数: 0 h-index: 0机构: St Thomas Hosp, Ophthalmol, London, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandJafri, H.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandRashid, Y.论文数: 0 引用数: 0 h-index: 0机构: King Edward Med Univ, Obstet & Gynaecol, Lahore, Pakistan Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandAli, M.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandInglehearn, C. F.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, EnglandToomes, C.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England Leeds Inst Mol Med, Ophthal Neurosci, Leeds, W Yorkshire, England
- [24] Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in ChildrenJNP- THE JOURNAL FOR NURSE PRACTITIONERS, 2023, 19 (05):Schmitt, Tonya M.论文数: 0 引用数: 0 h-index: 0机构: Univ Toledo, Coll Nursing, Toledo, OH 43606 USA Univ Toledo, Coll Nursing, Toledo, OH 43606 USAOhns, Mary Jean论文数: 0 引用数: 0 h-index: 0机构: Univ Toledo, Coll Nursing, Toledo, OH 43606 USA Univ Toledo, Coll Nursing, Toledo, OH 43606 USADeVries, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: Univ Toledo, Coll Nursing, Toledo, OH 43606 USA Univ Toledo, Coll Nursing, Toledo, OH 43606 USA
- [25] Towards the identification of Leber's congenital amaurosis (LCA1) geneVISION RESEARCH, 1996, 36 : 3136 - 3136Perrault, I论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCERozet, JM论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCECalvas, P论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCECamuzat, A论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEGerber, S论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEDollfus, H论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEChatelin, S论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCESouied, E论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEGhazi, I论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEDufier, JL论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEPittler, S论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEMunnich, A论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCEKaplan, J论文数: 0 引用数: 0 h-index: 0机构: HOP NECKER ENFANTS MALAD,INSERM U393,PARIS,FRANCE
- [26] Long-term preservation of photoreceptor function and structure following early-stage treatment by AAV-mediated gene augmentation in canine model of NPHP5 Leber congenital amaurosisINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)Aguirre, Gustavo D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USACideciyan, Artur V.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USABoye, Sanford L.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Ophthalmol, Gainesville, FL USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAIwabe, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USADufour, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USASwider, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USARoszak, Karolina论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAHauswirth, William W.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Ophthalmol, Gainesville, FL USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USAJacobson, Samuel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USABeltran, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA Univ Penn, Sch Vet Med, Clin Studies, Philadelphia, PA 19104 USA
- [27] Leber Congenital Amaurosis (LCA) on Puerto Rico and the Virgin Islands: A Genetic StudyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)Maumenee, I. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Eye & Ear Infir, Ophthalmol, Chicago, IL USA Univ Illinois, Eye & Ear Infir, Ophthalmol, Chicago, IL USAIzquierdo, N. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Eye & Ear Infir, Ophthalmol, Chicago, IL USAVillegas, V. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Puerto Rico, Ophthalmol, San Juan, PR 00936 USA Univ Illinois, Eye & Ear Infir, Ophthalmol, Chicago, IL USAKoenekoop, R. K.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Pediat Oph, McGill Ocular Genet Lab, Montreal, PQ, Canada Univ Illinois, Eye & Ear Infir, Ophthalmol, Chicago, IL USA
- [28] NMNAT1 mutations cause Leber congenital amaurosisNATURE GENETICS, 2012, 44 (09) : 1040 - +Falk, Marni J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Child Dev & Metab Dis, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAZhang, Qi论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USANakamaru-Ogiso, Eiko论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Biochem & Biophys, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAKannabiran, Chitra论文数: 0 引用数: 0 h-index: 0机构: LVPEI, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Andhra Pradesh, India Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAFonseca-Kelly, Zoe论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAChakarova, Christina论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAAudo, Isabelle论文数: 0 引用数: 0 h-index: 0机构: INSERM, U968, Paris, France Univ Paris 06, Unite Mixte Rech UMR S 968, Inst Vis, Paris, France CNRS, UMR 7210, Paris, France Ctr Hosp Natl Ophtalmol Quinze Vingts, INSERM, DHOS, Ctr Invest Clin 503, Paris, France Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAMackay, Donna S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Borman, Arundhati Dev论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, London, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Shukla, Rachna论文数: 0 引用数: 0 h-index: 0机构: LVPEI, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Andhra Pradesh, India Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAPalavalli, Lakshmi论文数: 0 引用数: 0 h-index: 0机构: LVPEI, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Andhra Pradesh, India Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAMohand-Said, Saddek论文数: 0 引用数: 0 h-index: 0机构: INSERM, U968, Paris, France Univ Paris 06, Unite Mixte Rech UMR S 968, Inst Vis, Paris, France CNRS, UMR 7210, Paris, France Ctr Hosp Natl Ophtalmol Quinze Vingts, INSERM, DHOS, Ctr Invest Clin 503, Paris, France Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAWaseem, Naushin H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAJalali, Subhadra论文数: 0 引用数: 0 h-index: 0机构: LVPEI, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Andhra Pradesh, India LVPEI, Srimati Kanuri Santhamma Ctr Vitreoretinal Dis, Hyderabad, Andhra Pradesh, India Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAPerin, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Biomed Informat, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAPlace, Emily论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Childrens Hosp Philadelphia, Div Human Genet, Dept Pediat, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAOstrovsky, Julian论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Dept Pediat, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAXiao, Rui论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USABhattacharya, Shomi S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Ctr Andaluz Biol Mol & Med Regenerat CABIMER, Seville, Spain Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAConsugar, Mark论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, London, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USASahel, Jose-Alain论文数: 0 引用数: 0 h-index: 0机构: INSERM, U968, Paris, France Univ Paris 06, Unite Mixte Rech UMR S 968, Inst Vis, Paris, France CNRS, UMR 7210, Paris, France Ctr Hosp Natl Ophtalmol Quinze Vingts, INSERM, DHOS, Ctr Invest Clin 503, Paris, France Fdn Ophtalmol Adolphe Rothschild, Paris, France Acad Sci Inst France, Paris, France Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, London, England Great Ormond St Hosp Sick Children, London WC1N 3JH, England Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USABerson, Eliot L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USALiu, Qin论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAGai, Xiaowu论文数: 0 引用数: 0 h-index: 0机构: Loyola Univ, Chicago Hlth Sci Div, Dept Mol Pharmacol & Therapeut, Maywood, IL 60153 USA Loyola Univ, Chicago Hlth Sci Div, Ctr Biomed Informat, Maywood, IL 60153 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USAPierce, Eric A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol,Ocular Genom Inst, Boston, MA USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat,Dept Opht, Boston, MA 02114 USA
- [29] Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosisNATURE GENETICS, 2003, 35 (02) : 158 - 164Woodruff, ML论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USAWang, ZY论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USAChung, HY论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USARedmond, TM论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USAFain, GL论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USALem, J论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, New England Med Ctr, Mol Cardiol Res Inst, Boston, MA 02111 USA
- [30] NMNAT1 mutations cause Leber congenital amaurosisNature Genetics, 2012, 44 : 1040 - 1045Marni J Falk论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsQi Zhang论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsEiko Nakamaru-Ogiso论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsChitra Kannabiran论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsZoe Fonseca-Kelly论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsChristina Chakarova论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsIsabelle Audo论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsDonna S Mackay论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsChristina Zeitz论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsArundhati Dev Borman论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsMagdalena Staniszewska论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsRachna Shukla论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsLakshmi Palavalli论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsSaddek Mohand-Said论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsNaushin H Waseem论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, 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h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsQin Liu论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsXiaowu Gai论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human GeneticsEric A Pierce论文数: 0 引用数: 0 h-index: 0机构: The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine,Department of Pediatrics, Division of Human Genetics