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RPGRIP1 and cone-rod dystrophy in dogsCanine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and TreatmentCanine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerationsA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessNeonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats.Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cellsAcute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa.Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina.COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.Implications of retinal effects observed in chronic toxicity studies on the clinical development of a CNS-active drug candidate.Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.A digital atlas of the dog brainAltered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosisRecombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRUp-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degenerationExclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa.Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration.Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Improvement in vision: a new goal for treatment of hereditary retinal degenerationsPhotoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations.Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Strong upregulation of inflammatory genes accompanies photoreceptor demise in canine models of retinal degeneration.Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvementMolecular studies of phenotype variation in canine RPGR-XLPRA1.A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.Blinded by the light: retinal phototoxicity in the context of safety studies.Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dogIQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breedsModeling the structural consequences of BEST1 missense mutations.Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9Concepts and Strategies in Retinal Gene Therapy.Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.
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description
researcher ORCID ID = 0000-0002-5228-256X
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wetenschapper
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name
Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
@nl
type
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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Gustavo D Aguirre
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P106
P21
P31
P496
0000-0002-5228-256X