| 1 |
Analysis of the oligosaccharide chains of rhodopsin from normal rats and those with hereditary retinal dystrophy.
54
61
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Endo T...Kean EL
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8944546 |
1996 |
| 2 |
[Multimodal diagnostic of CSNB1 with NYX gene mutation].
61
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Rating P...Bechrakis NE
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30980176 |
2019 |
| 3 |
Changes in microchip position after implantation of a subretinal vision prosthesis in humans.
61
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Kuehlewein L...Stingl K
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30816625 |
2019 |
| 4 |
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.
61
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Liu S...Dai Y
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30790467 |
2019 |
| 5 |
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
61
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Zaneveld SA...Chen R
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30101608 |
2019 |
| 6 |
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase.
61
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Plossl K...Friedrich U
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31048931 |
2019 |
| 7 |
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.
61
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Plossl K...Friedrich U
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30040949 |
2018 |
| 8 |
[Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies].
61
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Birtel J...Herrmann P
|
30259088 |
2018 |
| 9 |
Revolution in Gene Medicine Therapy and Genome Surgery.
61
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Jiang DJ...Tsang SH
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30486314 |
2018 |
| 10 |
[Multimodal imaging in Goldmann-Favre syndrome].
61
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Valler D...Maier M
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29234872 |
2018 |
| 11 |
Visual Evoked Potential Recovery by Subretinal Implantation of Photoelectric Dye-Coupled Thin Film Retinal Prosthesis in Monkey Eyes With Macular Degeneration.
61
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Matsuo T...Kamikawa K
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29633282 |
2018 |
| 12 |
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis.
61
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Peng CH...Chiou SH
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29674172 |
2018 |
| 13 |
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa.
61
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Artero Castro A...Erceg S
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29345014 |
2018 |
| 14 |
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives.
61
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Dias MF...Kwon YJ
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29097191 |
2018 |
| 15 |
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
61
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Ravesh Z...Miryounesi M
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30416334 |
2018 |
| 16 |
The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution.
61
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Mbefo MK...Arsenijevic Y
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29721964 |
2018 |
| 17 |
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies.
61
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Oner A
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29326851 |
2017 |
| 18 |
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family.
61
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Doguizi S...Yilmazbas P
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29109902 |
2017 |
| 19 |
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study.
61
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Rita Machado A...Castelo-Branco M
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28900214 |
2017 |
| 20 |
Is there evidence that the yearly numbers of children newly certified with sight impairment in England and Wales has increased between 1999/2000 and 2014/2015? A cross-sectional study.
61
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Bunce C...Bowman R
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28864701 |
2017 |
| 21 |
Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.
61
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Plossl K...Friedrich U
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28615319 |
2017 |
| 22 |
[Ophthalmological rehabilitation of visually impaired children].
61
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Altpeter EK...Nguyen NX
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27832328 |
2017 |
| 23 |
Visual evoked potential in RCS rats with Okayama University-type retinal prosthesis (OUReP™) implantation.
61
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Alamusi...Uchida T
|
28181076 |
2017 |
| 24 |
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.
61
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Plossl K...Friedrich U
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27995734 |
2017 |
| 25 |
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type.
61
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Plank T...Greenlee MW
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28099241 |
2017 |
| 26 |
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review.
61
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Brito-Garcia N...Serrano-Aguilar P
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27935602 |
2017 |
| 27 |
Hereditary Retinal Dystrophy.
61
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Hohman TC
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28035529 |
2017 |
| 28 |
Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
61
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Costa KA...Sallum JMF
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28912962 |
2017 |
| 29 |
Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34.
61
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Sahaboglu A...Paquet-Durand F
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28723922 |
2017 |
| 30 |
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
61
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Han J...Choi JR
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28966547 |
2017 |
| 31 |
An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach.
61
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Parikh S...Matynia A
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28060316 |
2016 |
| 32 |
[Hereditary Macular Dystrophies].
61
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Renner AB...Kellner U
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27385259 |
2016 |
| 33 |
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
61
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Xu Y...Zhang Q
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27375279 |
2016 |
| 34 |
Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle.
61
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Sears AE...Palczewski K
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27183166 |
2016 |
| 35 |
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
61
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Tsipi M...Kitsiou-Tzeli S
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27014590 |
2016 |
| 36 |
Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings.
61
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Prins D...Cornelissen FW
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26361248 |
2016 |
| 37 |
Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina.
61
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Toulis V...Marfany G
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27613029 |
2016 |
| 38 |
Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene.
61
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Wiik AC...Lingaas F
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26202106 |
2015 |
| 39 |
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.
61
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Gerard X...Rozet JM
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26325627 |
2015 |
| 40 |
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
61
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Lee K...Garg S
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25910913 |
2015 |
| 41 |
Lysosomal membrane permeabilization and autophagy blockade contribute to photoreceptor cell death in a mouse model of retinitis pigmentosa.
61
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Rodriguez-Muela N...Boya P
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25501597 |
2015 |
| 42 |
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
61
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Xu Y...Zhang Q
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25999675 |
2015 |
| 43 |
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
61
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Hosono K...Hotta Y
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26097748 |
2015 |
| 44 |
Ocular Effects of Niacin: A Review of the Literature.
61
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Domanico D...Vingolo EM
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26060832 |
2015 |
| 45 |
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
61
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Orosz O...Losonczy G
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25684977 |
2015 |
| 46 |
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
61
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Xin W...Zhang Q
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26161775 |
2015 |
| 47 |
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.
61
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Nagel-Wolfrum K...Wolfrum U
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24912600 |
2014 |
| 48 |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
61
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Alapati A...Ayyagari R
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25082885 |
2014 |
| 49 |
[Specific gene therapy for hereditary retinal dystrophies - an update].
61
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Stieger K...Lorenz B
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24327302 |
2014 |
| 50 |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
61
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Glockle N...Neidhardt J
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23591405 |
2014 |
