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Table representation of search results timeline featuring number of search results per year.

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1980 1
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1991 1
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1998 3
1999 1
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2002 5
2003 5
2004 8
2005 6
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265 results

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Page 1
[Gene therapy for retinitis pigmentosa].
Ducloyer JB, Le Meur G, Cronin T, Adjali O, Weber M. Ducloyer JB, et al. Med Sci (Paris). 2020 Jun-Jul;36(6-7):607-615. doi: 10.1051/medsci/2020095. Epub 2020 Jul 2. Med Sci (Paris). 2020. PMID: 32614312 Free article. Review. French.
This treatment, with proven efficacy, is available to patients with Leber congenital amaurosis and retinitis pigmentosa associated with bi-allelic mutations of the RPE 65 gene. ...
This treatment, with proven efficacy, is available to patients with Leber congenital amaurosis and retinitis pigmentosa …
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic l- …
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Huang CH, et al. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261. Genes (Basel). 2021. PMID: 34440435 Free PMC article. Review.
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. ...
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with …
Gene therapy for inherited retinal diseases: progress and possibilities.
Hu ML, Edwards TL, O'Hare F, Hickey DG, Wang JH, Liu Z, Ayton LN. Hu ML, et al. Clin Exp Optom. 2021 May;104(4):444-454. doi: 10.1080/08164622.2021.1880863. Epub 2021 Mar 2. Clin Exp Optom. 2021. PMID: 33689657 Free article. Review.
Important photoreceptor IRDs include retinitis pigmentosa and Leber congenital amaurosis. Macular dystrophies include Stargardt and Best disease. ...
Important photoreceptor IRDs include retinitis pigmentosa and Leber congenital amaurosis. Macular dystrophies include S …
Keratoconus.
Rabinowitz YS. Rabinowitz YS. Surv Ophthalmol. 1998 Jan-Feb;42(4):297-319. doi: 10.1016/s0039-6257(97)00119-7. Surv Ophthalmol. 1998. PMID: 9493273 Review.
Keratoconus is most commonly an isolated disorder, although several reports describe an association with Down syndrome, Leber's congenital amaurosis, and mitral valve prolapse. The differential diagnosis of keratoconus includes keratoglobus, pellucid marginal …
Keratoconus is most commonly an isolated disorder, although several reports describe an association with Down syndrome, Leber's co …
Leber's Congenital Amaurosis and Gene Therapy.
Takkar B, Bansal P, Venkatesh P. Takkar B, et al. Indian J Pediatr. 2018 Mar;85(3):237-242. doi: 10.1007/s12098-017-2394-1. Epub 2017 Jul 7. Indian J Pediatr. 2018. PMID: 28685406 Review.
Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. ...
Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these ca …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing …
These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late …
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. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved by the FDA for treating patients with confirmed biallelic RPE65 mutation-associated Leber Congenital Amaurosis (LCA) in …
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved b …
Leber Congenital Amaurosis.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. Adv Exp Med Biol. 2018. PMID: 30578499 Review.
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000. Also known as congenital reti …
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents …
265 results