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2022
Mark The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena ; Ravesh, Zeinab ; Cideciyan, Artur V. ; Stingl, Katarina ; Audo, Isabelle ; Meunier, Isabelle ; Bocquet, Beatrice and Traboulsi, Elias I. , et al. (2022) In Proceedings of the National Academy of Sciences of the United States of America 119(27).
- Contribution to journal › Article
2020
Mark Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
Kuehlewein, Laura ; Zobor, Ditta ; Andreasson, Sten Olof ^LU ; Ayuso, Carmen ; Banfi, Sandro ; Bocquet, Beatrice ; Bernd, Antje S. ; Biskup, Saskia ; Boon, Camiel J.F. and Downes, Susan M. , et al. (2020) In JAMA Ophthalmology 138(12). p.1241-1250
- Contribution to journal › Article
2017
Mark The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
Zobor, Ditta ; Werner, Annette ; Stanzial, Franco ; Benedicenti, Francesco ; Rudolph, Günther ; Kellner, Ulrich ; Hamel, Christian P ; Andréasson, Sten ^LU ; Zobor, Gergely and Strasser, Torsten , et al. (2017) In Investigative Ophthalmology and Visual Science 58(2). p.821-832
- Contribution to journal › Article
2015
Mark Retinal functional alterations in mice lacking intermediate filament proteins glial fibrillary acidic protein and vimentin.
Wunderlich, Kirsten ^LU ; Tanimoto, Naoyuki ; Grosche, Antje ; Zrenner, Eberhart ; Pekny, Milos ; Reichenbach, Andreas ; Seeliger, Mathias W ; Pannicke, Thomas and Perez, Maria Thereza ^LU (2015) In FASEB Journal 29(12). p.4815-4828
- Contribution to journal › Article
2014
Mark Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration.
Arango-Gonzalez, Blanca ; Trifunović, Dragana ; Sahaboglu, Ayse ; Kranz, Katharina ; Michalakis, Stylianos ; Farinelli, Pietro ^LU ; Koch, Susanne ; Koch, Fred ; Cottet, Sandra and Janssen-Bienhold, Ulrike , et al. (2014) In PLoS ONE 9(11).
- Contribution to journal › Article
2013
Mark Retinitis Pigmentosa: Over-expression of anti-ageing protein Klotho in degenerating photoreceptors.
Farinelli, Pietro ^LU ; Arango-Gonzalez, Blanca ; Völkl, Jakob ; Alesutan, Ioana ; Lang, Florian ; Zrenner, Eberhart ; Paquet-Durand, Francois ^LU and Ekström, Per ^LU (2013) In Journal of Neurochemistry
- Contribution to journal › Article
2011
Mark Calpain and PARP Activation during Photoreceptor Cell Death in P23H and S334ter Rhodopsin Mutant Rats
Kaur, Jasvir ; Mencl, Stine ; Sahaboglu, Ayse ; Farinelli, Pietro ^LU ; van Veen, Theo ^LU ; Zrenner, Eberhart ; Ekström, Per ^LU ; Paquet-Durand, Francois and Arango-Gonzalez, Blanca (2011) In PLoS ONE 6(7).
- Contribution to journal › Article
Mark Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
Grau, Tanja ; Artemyev, Nikolai O. ; Rosenberg, Thomas ; Dollfus, Helene ; Haugen, Olav H. ; Sener, E. Cumhur ; Jurklies, Bernhard ; Andréasson, Sten ^LU ; Kernstock, Christoph and Larsen, Michael , et al. (2011) In Human Molecular Genetics 20(4). p.719-730
- Contribution to journal › Article
2010
Mark Altered Expression of Metallothionein-I and -II and Their Receptor Megalin in Inherited Photoreceptor Degeneration
Wunderlich, Kirsten ^LU ; Leveillard, Thierry ; Penkowa, Milena ; Zrenner, Eberhart and Perez, Maria Thereza ^LU (2010) In Investigative Ophthalmology & Visual Science 51(9). p.4809-4820
- Contribution to journal › Article
Mark PARP1 Gene Knock-Out Increases Resistance to Retinal Degeneration without Affecting Retinal Function
Sahaboglu, Ayse ; Tanimoto, Naoyuki ; Kaur, Jasvir ; Sancho-Pelluz, Javier ; Huber, Gesine ; Fahl, Edda ; Arango-Gonzalez, Blanca ; Zrenner, Eberhart ; Ekström, Per ^LU and Loewenheim, Hubert , et al. (2010) In PLoS ONE 5(11).
- Contribution to journal › Article

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