about
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding proteinMutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessMutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyAn L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindnessCNGA3 mutations in hereditary cone photoreceptor disordersMutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyGenetic heterogeneity among blue-cone monochromatsCataract prevalence and prevention in Europe: a literature reviewPARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function.Identification of a common non-apoptotic cell death mechanism in hereditary retinal degenerationMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaLeber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 geneMutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosaMutations in RPE65 cause Leber's congenital amaurosisHuman rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeLeber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 genePhenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesisRod and cone function in patients with KCNV2 retinopathySafety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)MfERG waveform characteristics in the RS1h mouse model featuring a 'negative' ERG.Scotopic threshold responses to infrared irradiation in cats.Citicoline and lithium rescue retinal ganglion cells following partial optic nerve crush in the rat.Investigation of thermal effects of infrared lasers on the rabbit retina: a study in the course of development of an active subretinal prosthesis.Modifying a Rodenstock scanning laser ophthalmoscope for imaging densitometry.Macular pigment and fixation after macular translocation surgery.An integrated domain specific language for post-processing and visualizing electrophysiological signals in Java.Implantation of ultrathin, biofunctionalized polyimide membranes into the subretinal space of rats.Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant ratsMolecular basis of an inherited form of incomplete achromatopsia.Synaptic remodeling generates synchronous oscillations in the degenerated outer mouse retina.Effects of combined ketamine/xylazine anesthesia on light induced retinal degeneration in rats.Neuroprotection by acetoacetate and β-hydroxybutyrate against NMDA-induced RGC damage in rat--possible involvement of kynurenic acidVariant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.Prevention and therapy in hereditary retinal degenerations.Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.Stereotactic fractionated irradiation of optic nerve sheath meningioma: a new treatment alternative.
P50
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P50
description
Forscher
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chercheur
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investigador
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researcher
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研究者
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Eberhart Zrenner
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Zrenner E
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Zrenner E
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Eberhart Zrenner
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Zrenner E
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Eberhart Zrenner
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Zrenner E
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Zrenner E
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Zrenner E
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P31
P496
0000-0003-2846-9663