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Year Number of Results
1971 1
1978 1
1992 2
1993 4
1994 3
1996 2
1997 2
1999 1
2001 3
2002 2
2003 2
2004 2
2008 1
2009 2
2011 1
2012 1
2013 3
2014 3
2015 3
2016 3
2017 7
2018 7
2019 9
2020 5
2021 9
2022 5
2023 5
2024 2

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80 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 …
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE. Piotter E, et al. Biomolecules. 2021 Aug 9;11(8):1179. doi: 10.3390/biom11081179. Biomolecules. 2021. PMID: 34439845 Free PMC article. Review.
However, the aetiology provides issues not encountered with the likes of choroideremia and X-linked retinitis pigmentosa and this has led to a spectrum of treatment strategies that approach the problem from different aspects. ...
However, the aetiology provides issues not encountered with the likes of choroideremia and X-linked retinitis pigmentosa and this has …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CS …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY. Gaudric A, et al. Prog Retin Eye Res. 2022 Nov;91:101092. doi: 10.1016/j.preteyeres.2022.101092. Epub 2022 Aug 1. Prog Retin Eye Res. 2022. PMID: 35927124 Free article. Review.
In inherited retinal dystrophies, cystoid spaces may be part of the disease as in X-linked retinoschisis or enhanced S-cone syndrome, or occur occasionally as in bestrophinopathies, retinitis pigmentosa and allied diseases, congenital microphthalmia, choroideremia, gyrate …
In inherited retinal dystrophies, cystoid spaces may be part of the disease as in X-linked retinoschisis or enhanced S-cone syndrome, or occ …
Choroideremia.
Dimopoulos IS, Radziwon A, St Laurent CD, MacDonald IM. Dimopoulos IS, et al. Curr Opin Ophthalmol. 2017 Sep;28(5):410-415. doi: 10.1097/ICU.0000000000000392. Curr Opin Ophthalmol. 2017. PMID: 28520608 Review.
PURPOSE OF REVIEW: Although much has been written to define the phenotype and genotype of choroideremia (CHM), research continues to provide new insights that serve to better understand its pathogenesis and the directions for potential experimental therapies. ...
PURPOSE OF REVIEW: Although much has been written to define the phenotype and genotype of choroideremia (CHM), research continues to …
Molecular Therapies for Choroideremia.
Cehajic Kapetanovic J, Barnard AR, MacLaren RE. Cehajic Kapetanovic J, et al. Genes (Basel). 2019 Sep 23;10(10):738. doi: 10.3390/genes10100738. Genes (Basel). 2019. PMID: 31548516 Free PMC article. Review.
This chapter discusses new insights into clinical phenotyping and molecular genetic testing in choroideremia with review of molecular mechanisms implicated in its pathogenesis. ...Alternative molecular therapies are discussed including suitability of CRISPR gene editing, s …
This chapter discusses new insights into clinical phenotyping and molecular genetic testing in choroideremia with review of molecular …
Choroideremia: The Endpoint Endgame.
Abdalla Elsayed MEA, Taylor LJ, Josan AS, Fischer MD, MacLaren RE. Abdalla Elsayed MEA, et al. Int J Mol Sci. 2023 Sep 20;24(18):14354. doi: 10.3390/ijms241814354. Int J Mol Sci. 2023. PMID: 37762657 Free PMC article. Review.
Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal pigment epithelium. ...The aims of the current review are to highlight the lessons learnt
Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal loss of photoreceptors and choriocapill
Choroideremia: molecular mechanisms and therapies.
Sarkar H, Moosajee M. Sarkar H, et al. Trends Mol Med. 2022 May;28(5):378-387. doi: 10.1016/j.molmed.2022.02.011. Epub 2022 Mar 24. Trends Mol Med. 2022. PMID: 35341685 Review.
Choroideremia (CHM) is a monogenic X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE), and choroid; it is caused by mutations involving the CHM gene. ...
Choroideremia (CHM) is a monogenic X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE), a
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Review.
Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenital amaurosis. Animal and cellular models support a loss-of-function mechanism. CONCLUSIONS: Clinicians should be aware of choroideremia-l …
Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenital a …
X-linked Choroideremia.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:37-42. doi: 10.1007/978-3-319-95046-4_9. Adv Exp Med Biol. 2018. PMID: 30578482 Review.
Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. ...
Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the chor
80 results