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retinal dystrophy相关文献:
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM.
Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14.
PMID:28712537
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.
Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
PMID:30718709
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK.
Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534.
PMID:33926102
Hereditary Retinal Dystrophy.
Hohman TC.
Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91.
PMID:28035529
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB.
Genet Med. 2015 Apr;17(4):271-8. doi: 10.1038/gim.2014.138. Epub 2014 Nov 6.
PMID:25356976
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.
Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS.
Mol Ther. 2021 Feb 3;29(2):442-463. doi: 10.1016/j.ymthe.2020.11.029. Epub 2020 Dec 3.
PMID:33278565
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S.
Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29.
PMID:32531858
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, Marshall KA, McCague S, Reichert H, Davis M, Simonelli F, Leroy BP, Wright JF, High KA, Bennett J.
Ophthalmology. 2019 Sep;126(9):1273-1285. doi: 10.1016/j.ophtha.2019.06.017. Epub 2019 Jun 22.
PMID:31443789
Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective.
Bolz HJ.
Klin Monbl Augenheilkd. 2021 Mar;238(3):261-266. doi: 10.1055/a-1386-5361. Epub 2021 Mar 30.
PMID:33784789
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M.
Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47.
PMID:32347917
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