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