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

Year Number of Results
1963 1
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1965 4
1966 2
1967 3
1968 4
1969 6
1970 3
1971 2
1972 5
1973 2
1974 2
1975 2
1976 2
1977 2
1978 1
1979 1
1980 2
1981 1
1983 2
1984 2
1985 1
1986 4
1987 3
1988 5
1989 9
1990 8
1991 4
1992 7
1993 7
1994 7
1995 8
1996 5
1997 7
1998 7
1999 6
2000 4
2001 5
2002 6
2003 9
2004 12
2005 7
2006 6
2007 8
2008 7
2009 7
2010 4
2011 3
2012 8
2013 6
2014 8
2015 14
2016 16
2017 15
2018 22
2019 7
2020 6
2021 12
2022 6
2023 8
2024 4

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321 results

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Page 1
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 …
Color vision.
Carroll J, Conway BR. Carroll J, et al. Handb Clin Neurol. 2021;178:131-153. doi: 10.1016/B978-0-12-821377-3.00005-2. Handb Clin Neurol. 2021. PMID: 33832674 Review.
Color is a fundamental aspect of normal visual experience. This chapter provides an overview of the role of color in human behavior, a survey of current knowledge regarding the genetic, retinal, and neural mechanisms that enable color vision, and a rev
Color is a fundamental aspect of normal visual experience. This chapter provides an overview of the role of color in human beh
Endoplasmic reticulum stress: molecular mechanism and therapeutic targets.
Chen X, Shi C, He M, Xiong S, Xia X. Chen X, et al. Signal Transduct Target Ther. 2023 Sep 15;8(1):352. doi: 10.1038/s41392-023-01570-w. Signal Transduct Target Ther. 2023. PMID: 37709773 Free PMC article. Review.
Accumulated data indicates its key role in protein homeostasis and other diverse functions involved in various ocular diseases, such as glaucoma, diabetic retinopathy, age-related macular degeneration, retinitis pigmentosa, achromatopsia, cataracts, ocular tumors, ocular s …
Accumulated data indicates its key role in protein homeostasis and other diverse functions involved in various ocular diseases, such as glau …
Achromatopsia: Genetics and Gene Therapy.
Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Michalakis S, et al. Mol Diagn Ther. 2022 Jan;26(1):51-59. doi: 10.1007/s40291-021-00565-z. Epub 2021 Dec 3. Mol Diagn Ther. 2022. PMID: 34860352 Free PMC article. Review.
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ...The loss o
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal
Gene Therapy for Color Blindness.
Hassall MM, Barnard AR, MacLaren RE. Hassall MM, et al. Yale J Biol Med. 2017 Dec 19;90(4):543-551. eCollection 2017 Dec. Yale J Biol Med. 2017. PMID: 29259520 Free PMC article. Review.
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. ...This review details the AAV gene therapy treatments of achromatopsia to date. We also present novel data showing rescue of a Cnga3(-/-) mouse model usin
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. ...This review details
Acquired color vision deficiency.
Simunovic MP. Simunovic MP. Surv Ophthalmol. 2016 Mar-Apr;61(2):132-55. doi: 10.1016/j.survophthal.2015.11.004. Epub 2015 Nov 30. Surv Ophthalmol. 2016. PMID: 26656928 Review.
Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. ...Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emergin …
Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. ...Traditionally, acquired …
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.
Retinal degradation progress is often irreversible, with clinical manifestations including color or night blindness, peripheral visual defects and subsequent vision loss. ...
Retinal degradation progress is often irreversible, with clinical manifestations including color or night blindness, peripheral visua …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone …
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), B …
Achromatopsia: a review.
Remmer MH, Rastogi N, Ranka MP, Ceisler EJ. Remmer MH, et al. Curr Opin Ophthalmol. 2015 Jul;26(5):333-40. doi: 10.1097/ICU.0000000000000189. Curr Opin Ophthalmol. 2015. PMID: 26196097 Review.
SUMMARY: Genetic understanding and disease characterization of achromatopsia continues to evolve, as do gene therapy tools and animal models. The potential for the treatment of achromatopsia in humans with gene therapy shows great promise....
SUMMARY: Genetic understanding and disease characterization of achromatopsia continues to evolve, as do gene therapy tools and animal …
Dysthyroid Optic Neuropathy.
Potvin ARGG, Pakdel F, Saeed P. Potvin ARGG, et al. Ophthalmic Plast Reconstr Surg. 2023 Dec 1;39(6S):S65-S80. doi: 10.1097/IOP.0000000000002555. Epub 2023 Dec 4. Ophthalmic Plast Reconstr Surg. 2023. PMID: 38054987 Review.
Diagnosis of DON is based on a combination of 2 clinical findings, including decreased visual acuity, decreased color vision, relative afferent pupillary defect, visual field defects, or optic disc edema. ...
Diagnosis of DON is based on a combination of 2 clinical findings, including decreased visual acuity, decreased color vision, …
321 results