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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs

Investigative ophthalmology & visual science, 2017-01, Vol.58 (1), p.394-403

2017

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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Scientific reports, 2016-06, Vol.6 (1), p.28253-28253, Article 28253

2016

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Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

Molecular and Cellular Biology, 2007-02, Vol.27 (4), p.1370-1379

2007

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Nature genetics, 1998-07, Vol.19 (3), p.260-263

1998

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Hereditary Optic Neuropathies

Klinische Monatsblatter fur Augenheilkunde, 2018-06, Vol.235 (6), p.747

Rüther, Klaus

2018

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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

PloS one, 2014-11, Vol.9 (11), p.e111754-e111754

2014

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Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

PloS one, 2015-05, Vol.10 (5), p.e0127204-e0127204

2015

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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Proceedings of the National Academy of Sciences - PNAS, 2022-07, Vol.119 (27), p.e2115538119

2022

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DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy

Journal of medical genetics, 2022-10, Vol.59 (10), p.1027

2022

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Effects of the AMPA antagonist ZK 200775 on visual function: a randomized controlled trial

PloS one, 2010-08, Vol.5 (8), p.e12111

2010

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Genetics in medicine, 2020-07, Vol.22 (7), p.1235-1246

2020

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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Human mutation, 2019-08, Vol.40 (8), p.1145-1155, Article humu.23768

2019

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Cone versus Rod Disease in a Mutant Rpgr Mouse Caused by Different Genetic Backgrounds

Investigative ophthalmology & visual science, 2010-02, Vol.51 (2), p.1106-1115

2010

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Ocular syphilis – indicator of previously unknown HIV-infection

The Journal of infection, 2009-01, Vol.58 (1), p.32-36

2009

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Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

Graefe's archive for clinical and experimental ophthalmology, 2015-08, Vol.253 (8), p.1245-1250

2015

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Mutant Rhodopsin Transgene Expression on a Null Background

Investigative ophthalmology & visual science, 2001-03, Vol.42 (3), p.826-833

2001

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Influence of chloroquine intake on the multifocal electroretinogram in patients with and without maculopathy

Documenta ophthalmologica, 2015-06, Vol.130 (3), p.211-219

2015

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Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices

Die Ophthalmologie, 2023-11, Vol.120 (11), p.1127

2023

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A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease

Journal of Child Neurology, 2012-05, Vol.27 (5), p.654-656

2012

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Nature genetics, 1998-07, Vol.19 (3), p.260-263

1998

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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Human molecular genetics, 1994-07, Vol.3 (7), p.1047-1051

1994

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Efficacy and tolerability of 0.2% brimonidine tartrate for the treatment of acute non-arteritic anterior ischemic optic neuropathy (NAION): a 3-month, double-masked, randomised, placebo-controlled trial

Graefe's archive for clinical and experimental ophthalmology, 2006-05, Vol.244 (5), p.551-558

2006

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A potential mouse model for the erosive vitreoretinopathy of Wagner disease

Matters, 2016-08

2016

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Hereditary Optic Neuropathies

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy

Effects of the AMPA antagonist ZK 200775 on visual function: a randomized controlled trial

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Cone versus Rod Disease in a Mutant Rpgr Mouse Caused by Different Genetic Backgrounds

Ocular syphilis – indicator of previously unknown HIV-infection

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome

Mutant Rhodopsin Transgene Expression on a Null Background

Influence of chloroquine intake on the multifocal electroretinogram in patients with and without maculopathy

Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices

A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Efficacy and tolerability of 0.2% brimonidine tartrate for the treatment of acute non-arteritic anterior ischemic optic neuropathy (NAION): a 3-month, double-masked, randomised, placebo-controlled trial

A potential mouse model for the erosive vitreoretinopathy of Wagner disease

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