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Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
- Published in:
- 2021
- By:
- Publication type:
- letter
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 4, p. 642, doi. 10.1038/mt.2010.293
- By:
- Publication type:
- Article
Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 4, p. 593, doi. 10.1038/mt.2008.301
- By:
- Publication type:
- Article
1019. Development of Tissue-Specific RNAi for Gene Therapy.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S392, doi. 10.1016/j.ymthe.2006.08.1114
- By:
- Publication type:
- Article
1020. AAV Delivery of Suppression and Replacement Constructs for Rhodopsin-Linked Autosomal Dominant Retinitis Pigmentosa<sup>*</sup>.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S392, doi. 10.1016/j.ymthe.2006.08.1115
- By:
- Publication type:
- Article
1021. Suppression and Replacement Strategies for Rhodopsin-Linked Autosomal Dominant Retinitis Pigmentosa<sup>*</sup>.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S393, doi. 10.1016/j.ymthe.2006.08.1116
- By:
- Publication type:
- Article
Toward a Gene Therapy for Dominant Disease: Validation of an RNA Interference-Based Mutation-Independent Approach
- Published in:
- Molecular Therapy, 2005, v. 12, n. 3, p. 555, doi. 10.1016/j.ymthe.2005.03.028
- By:
- Publication type:
- Article
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention.
- Published in:
- EMBO Journal, 2002, v. 21, n. 5, p. 857, doi. 10.1093/emboj/21.5.857
- By:
- Publication type:
- Article
Systemic low-molecular weight drug delivery to pre-selected neuronal regions.
- Published in:
- EMBO Molecular Medicine, 2011, v. 3, n. 4, p. 235, doi. 10.1002/emmm.201100126
- By:
- Publication type:
- Article
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1314, doi. 10.1038/ejhg.2014.26
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- Publication type:
- Article
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 62, doi. 10.1038/ejhg.2012.112
- By:
- Publication type:
- Article
C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 64, doi. 10.1038/ejhg.2011.151
- By:
- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86
- By:
- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- 2011
- By:
- Publication type:
- Correction notice
RNAi of COL1A1 in mesenchymal progenitor cells.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 864, doi. 10.1038/sj.ejhg.5201230
- By:
- Publication type:
- Article
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1420, doi. 10.3390/genes11121420
- By:
- Publication type:
- Article
Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland.
- Published in:
- Genes, 2020, v. 11, n. 1, p. 105, doi. 10.3390/genes11010105
- By:
- Publication type:
- Article
RNAi-mediated reversible opening of the blood-brain barrier.
- Published in:
- Journal of Gene Medicine, 2008, v. 10, n. 8, p. 930, doi. 10.1002/jgm.1211
- By:
- Publication type:
- Article
Development of strategies for conditional RNA interference.
- Published in:
- Journal of Gene Medicine, 2007, v. 9, n. 4, p. 287, doi. 10.1002/jgm.1018
- By:
- Publication type:
- Article
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-35889-9
- By:
- Publication type:
- Article
Toward an elucidation of the molecular genetics of inherited retinal degenerations.
- Published in:
- Human Molecular Genetics, 2017, v. 26, p. R2, doi. 10.1093/hmg/ddx185
- By:
- Publication type:
- Article
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4421, doi. 10.1093/hmg/ddq369
- By:
- Publication type:
- Article
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2084, doi. 10.1093/hmg/ddn107
- By:
- Publication type:
- Article
NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.
- Published in:
- Nature Medicine, 2012, v. 18, n. 5, p. 791, doi. 10.1038/nm.2717
- By:
- Publication type:
- Article
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 6, p. 641, doi. 10.1093/hmg/ddh061
- By:
- Publication type:
- Article
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 19, p. 2201, doi. 10.1093/hmg/11.19.2201
- By:
- Publication type:
- Article
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1005, doi. 10.1093/hmg/11.9.1005
- By:
- Publication type:
- Article
Identification of an IMPDH1 mutationin autosomal dominant retinitis pigmentosa (RP10) revealed followingcomparative microarray analysis of transcripts derived from retinasof wild-type and Rho–/– mice.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 5, p. 547, doi. 10.1093/hmg/11.5.547
- By:
- Publication type:
- Article
Strategems in Vitro for Gene Therapies Directed to Dominant Mutations.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1415, doi. 10.1093/hmg/6.9.1415
- By:
- Publication type:
- Article
IL-18 Attenuates Experimental Choroidal Neovascularization as a Potential Therapy for Wet Age-Related Macular Degeneration.
- Published in:
- Science Translational Medicine, 2014, v. 6, n. 230, p. 1, doi. 10.1126/scitranslmed.3007616
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- Publication type:
- Article
A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors.
- Published in:
- Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00521
- By:
- Publication type:
- Article
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 260, doi. 10.1002/humu.20287
- By:
- Publication type:
- Article
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 75, doi. 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4
- By:
- Publication type:
- Article
Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 244, doi. 10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.0.CO;2-Z
- By:
- Publication type:
- Article
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M
- By:
- Publication type:
- Article
A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 37, doi. 10.1002/humu.1380020107
- By:
- Publication type:
- Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
- By:
- Publication type:
- Article
AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00891
- By:
- Publication type:
- Article
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73257-z
- By:
- Publication type:
- Article
AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models.
- Published in:
- Clinical & Translational Medicine, 2022, v. 12, n. 8, p. 1, doi. 10.1002/ctm2.952
- By:
- Publication type:
- Article
Hedgehog Signaling Pathway Database: a repository of current annotation efforts and resources for the Hh research community.
- Published in:
- Nucleic Acids Research, 2007, v. 35, p. d595, doi. 10.1093/nar/gkl1012
- By:
- Publication type:
- Article
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
- Published in:
- Genes, 2017, v. 8, n. 11, p. 304, doi. 10.3390/genes8110304
- By:
- Publication type:
- Article
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
- Published in:
- Scientific Reports, 2016, p. 33248, doi. 10.1038/srep33248
- By:
- Publication type:
- Article
microRNA regulatory circuits in a mouse model of inherited retinal degeneration.
- Published in:
- Scientific Reports, 2016, p. 31431, doi. 10.1038/srep31431
- By:
- Publication type:
- Article
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 2, p. 322, doi. 10.3390/pharmaceutics15020322
- By:
- Publication type:
- Article
AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8876, doi. 10.3390/ijms25168876
- By:
- Publication type:
- Article
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3847, doi. 10.3390/ijms24043847
- By:
- Publication type:
- Article
SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1606, doi. 10.3390/ijms23031606
- By:
- Publication type:
- Article