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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2016, Volume 374, Issue 20, pp. 1996 - 1998
In this study, the subfoveal injection of a gene-therapy vector carrying nonmutated CHM, the gene that, when mutated, causes a form of blindness called... 
MEDICINE, GENERAL & INTERNAL | Cataract - complications | Genetic Therapy | Choroideremia - complications | Humans | Retina | Choroideremia - therapy | Visual Acuity | Cataracts | Diabetic retinopathy | Medical research | Congenital diseases | Blindness | Traffic accidents & safety | Injection | Gene therapy | Patients | Acuity | Index Medicus | Abridged Index Medicus
Journal Article
Nature Medicine, ISSN 1078-8956, 10/2018, Volume 24, Issue 10, pp. 1507 - 1512
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 09/2018, Volume 38, Issue 9, pp. 1725 - 1730
Purpose: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).... 
choroideremia | short posterior ciliary arteries | OPHTHALMOLOGY | CHM | scleral pits | PIGMENT-EPITHELIUM | PHOTORECEPTORS | Usage | Diagnosis | Health aspects | Choroideremia | Optical tomography | Sclera | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2013, Volume 8, Issue 5, pp. e61396 - e61396
Journal Article
Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1105 - 1107
Journal Article
The Journal of Gene Medicine, ISSN 1099-498X, 05/2014, Volume 16, Issue 5-6, pp. 122 - 130
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1715, pp. 89 - 97
As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously... 
Western blot | Gene therapy | Gene augmentation | AAV | Choroideremia | Human REP1 | Choroideremia - genetics | Dependovirus - genetics | Gene Transfer Techniques | Retina - metabolism | Humans | Adaptor Proteins, Signal Transducing - genetics | HEK293 Cells | Choroideremia - therapy | Genetic Vectors | Genetic Therapy - methods | Index Medicus
Journal Article
Ophthalmic Surgery Lasers and Imaging Retina, ISSN 2325-8160, 07/2018, Volume 49, Issue 7, pp. 472 - 478
Journal Article
Expert Review of Ophthalmology, ISSN 1746-9899, 05/2018, Volume 13, Issue 3, pp. 129 - 138
Gene therapy offers the potential for targeted replacement of single gene defects in inherited retinal degenerations. Choroideremia is an X-linked blinding... 
CHM | gene therapy | REP1 | adeno-associated virus | choroideremia | AAV
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 2014, Volume 10, Issue 3, pp. 123 - 123
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 06/2018, Volume 9, pp. 288 - 295
Choroideremia (CHM) is a rare, X-linked recessive retinal dystrophy caused by mutations in the gene. is ubiquitously expressed in human cells and encodes Rab... 
AAV gene therapy | prenylation | choroideremia | potency assay | ESCORT PROTEIN-1 | MEDICINE, RESEARCH & EXPERIMENTAL | GTPASES | VIVO | FUNCTIONAL EXPRESSION | DISEASE | MICE | DELIVERY
Journal Article