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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Springe zu: 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016
Anzahl der Publikationen: 23

2022

Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd und Kohl, Susanne (2022): Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. In: Human Mutation, Bd. 43, Nr. 7: S. 832-858

2021

Reichel, Felix Friedrich ORCID logoORCID: https://orcid.org/0000-0001-9325-5616; Michalakis, Stylianos ORCID logoORCID: https://orcid.org/0000-0001-5092-9238; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura ORCID logoORCID: https://orcid.org/0000-0003-1906-8681; Kahle, Nadine; Seitz, Immanuel ORCID logoORCID: https://orcid.org/0000-0002-3086-6425; Paquet-Durand, Francois ORCID logoORCID: https://orcid.org/0000-0001-7355-5742; Tsang, Stephen H.; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhard; Biel, Martin; Wissinger, Bernd und Fischer, Dominik (2021): Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial. In: British Journal of Ophthalmology, Bd. 106, Nr. 11: S. 1567-1572

Nassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand-Said, Saddek; Condroyer, Christel; Antonio, Aline; Kuehlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan-Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; Mahroo, Omar A.; Ba-Abbad, Rola; Michaelides, Michel; Webster, Andrew R.; Degli Esposti, Simona; Saffren, Brooke; Capasso, Jenina; Levin, Alex; Hauswirth, William W.; Dhaenens, Claire-Marie; Defoort-Dhellemmes, Sabine; Tsang, Stephen H.; Zrenner, Eberhart; Sahel, Jose-Alain; Petersen-Jones, Simon M.; Zeitz, Christina und Audo, Isabelle (2021): CNGB1-related rod-cone dystrophy: A mutation review and update. In: Human Mutation, Bd. 42, Nr. 6: S. 641-666

Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; Schooneveld, Mary J. van; Rudolph, Gunther; Kuhlewein, Laura und Wissinger, Bernd (2021): A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. In: Human Molecular Genetics, Bd. 30, Nr. 13: S. 1218-1229

Jueschke, Christoph; Klopstock, Thomas; Catarino, Claudia B.; Owczarek-Lipska, Marta; Wissinger, Bernd und Neidhardt, John (2021): Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption. In: Molecular Therapy-Nucleic Acids, Bd. 26: S. 1186-1197 [PDF, 1MB]

2020

Boussaad, Ibrahim ORCID logoORCID: https://orcid.org/0000-0002-3512-3364; Obermaier, Carolin D. ORCID logoORCID: https://orcid.org/0000-0001-6653-8215; Hanss, Zoé ORCID logoORCID: https://orcid.org/0000-0002-3659-3624; Bobbili, Dheeraj R.; Bolognin, Silvia ORCID logoORCID: https://orcid.org/0000-0002-1399-2999; Glaab, Enrico ORCID logoORCID: https://orcid.org/0000-0003-3977-7469; Wołyńska, Katarzyna ORCID logoORCID: https://orcid.org/0000-0002-8377-8496; Weisschuh, Nicole; De Conti, Laura ORCID logoORCID: https://orcid.org/0000-0003-4391-3638; May, Caroline ORCID logoORCID: https://orcid.org/0000-0002-6532-5979; Giesert, Florian ORCID logoORCID: https://orcid.org/0000-0001-6825-8858; Grossmann, Dajana; Lambert, Annika ORCID logoORCID: https://orcid.org/0000-0003-4503-4266; Kirchen, Susanne ORCID logoORCID: https://orcid.org/0000-0003-0211-1815; Biryukov, Maria; Burbulla, Lena F. ORCID logoORCID: https://orcid.org/0000-0002-6548-905X; Massart, Francois ORCID logoORCID: https://orcid.org/0000-0001-5590-3344; Bohler, Jill; Cruciani, Gérald; Schmid, Benjamin ORCID logoORCID: https://orcid.org/0000-0002-0028-888X; Kurz-Drexler, Annerose ORCID logoORCID: https://orcid.org/0000-0001-9108-6994; May, Patrick ORCID logoORCID: https://orcid.org/0000-0001-8698-3770; Duga, Stefano ORCID logoORCID: https://orcid.org/0000-0003-3457-1410; Klein, Christine; Schwamborn, Jens C. ORCID logoORCID: https://orcid.org/0000-0003-4496-0559; Marcus, Katrin ORCID logoORCID: https://orcid.org/0000-0002-3313-8845; Woitalla, Dirk; Vogt Weisenhorn, Daniela M. ORCID logoORCID: https://orcid.org/0000-0002-4566-6506; Wurst, Wolfgang ORCID logoORCID: https://orcid.org/0000-0003-4422-7410; Baralle, Marco ORCID logoORCID: https://orcid.org/0000-0002-0417-1013; Krainc, Dimitri ORCID logoORCID: https://orcid.org/0000-0002-4716-1886; Gasser, Thomas ORCID logoORCID: https://orcid.org/0000-0002-1069-1146; Wissinger, Bernd ORCID logoORCID: https://orcid.org/0000-0001-8964-5953 und Krüger, Rejko ORCID logoORCID: https://orcid.org/0000-0003-4258-6241 (2020): A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease. In: Science Translational Medicine, Bd. 12, Nr. 560

Kuehlewein, Laura; Zobor, Ditta; Andreasson, Sten Olof; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Bernd, Antje S.; Biskup, Saskia; Boon, Camiel J. F.; Downes, Susan M.; Fischer, M. Dominik; Holz, Frank G.; Kellner, Ulrich; Leroy, Bart P.; Meunier, Isabelle; Nasser, Fadi; Rosenberg, Thomas; Rudolph, Gunther; Stingl, Katarina; Thiadens, Alberta A. H. J.; Wilhelm, Barbara; Wissinger, Bernd; Zrenner, Eberhart; Kohl, Susanne und Weisschuh, Nicole (2020): Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. In: Jama Ophthalmology, Bd. 138, Nr. 12: S. 1241-1250

Fischer, M. Dominik; Michalakis, Stylianos; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Ochakovski, G. Alex; Klein, Reinhild; Schoen, Christian; Sothilingam, Vithiyanjali; Garcia-Garrido, Marina; Kuehlewein, Laura; Kahle, Nadine; Werner, Annette; Dauletbekov, Daniyar; Paquet-Durand, Francois; Tsang, Stephen; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhart; Biel, Martin und Wissinger, Bernd (2020): Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia A Nonrandomized Controlled Trial. In: Jama Ophthalmology, Bd. 138, Nr. 6: S. 643-651

2019

Tobias, Peters; Philipp, Seitz Immanuel; Stylianos, Michalakis; Martin, Biel; Barbara, Wilhelm; Felix, Reichel; Alexander, Ochakovski Guy; Eberhart, Zrenner; Marius, Ueffing; Birgit, Korbmacher; Sven, Korte; Ulrich, Bartz-Schmidt Karl; Dominik, Fischer Manuel; Bartz-Schmidt, Karl Ulrich; Bolz, Sylvia; Fischer, Dominik; Kohl, Susanne; Kuehlewein, Laura; Muehlfriedel, Regine; Neubauer, Jonas; Ochakovski, Alex; Paquet-Durand, Francois; Seeliger, Mathias; Sothilingam, Vithiyanjali; Ueffing, Marius; Weisschuh, Nicole; Wissinger, Bernd; Zhour, Ahmad; Zobor, Ditta; Zrenner, Eberhart; Biel, Martin; Michalakis, Stylianos; Schön, Christian; Kahle, Nadine; Peters, Tobias; Wilhelm, Barbara; Tsang, Steven und Gloeckner, Christian Johannes (2019): Safety and Toxicology of Ocular Gene Therapy with Recombinant AAV Vector rAAV.hCNGA3 in Nonhuman Primates. In: Human Gene Therapy Clinical Development, Bd. 30, Nr. 2: S. 50-56

Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd und Kohl, Susanne (2019): Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. In: Human Mutation, Bd. 41, Nr. 1: S. 255-264

2018

Burkard, Markus; Kohl, Susanne; Kratzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Charbel Issa, Peter; Koenekoop, Robert K.; Rudolph, Gunther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd und Ruth, Peter (2018): Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. In: The Journal of Clinical Investigation, Bd. 128, Nr. 12: S. 5663-5675

Reichel, Felix F.; Peters, Tobias; Wilhelm, Barbara; Biel, Martin; Ueffing, Marius; Wissinger, Bernd; Bartz-Schmidt, Karl U.; Klein, Reinhild; Michalakis, Stylianos und Fischer, M. Dominik (2018): Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients. In: Investigative Ophthalmology & Visual Science, Bd. 59, Nr. 5: S. 1910-1915 [PDF, 559kB]

2017

Zobor, Ditta; Werner, Annette; Stanzial, Franco; Benedicenti, Francesco; Rudolph, Günther; Kellner, Ulrich; Hamel, Christian; Andréasson, Sten; Zobor, Gergely; Strasser, Torsten; Wissinger, Bernd; Kohl, Susanne und Zrenner, Eberhart (2017): The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. In: Investigative Ophthalmology & Visual Science, Bd. 58, Nr. 2

Ochakovski, G. Alex; Peters, Tobias; Michalakis, Stylianos; Wilhelm, Barbara; Wissinger, Bernd; Bie, Martin; Bartz-Schmidt, K. Ulrich und Fischer, M. Dominik (2017): Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae. In: Investigative Ophthalmology & Visual Science, Bd. 58, Nr. 10: S. 4155-4160

Michalakis, Stylianos; Fischer, M. Dominik; Schön, Christian; Wilhelm, Barbara; Zobor, Ditta; Muhlfriedel, Regine; Sothilingam, Vithiyanjali; Kohl, Susanne; Peters, Tobias; Zrenner, Eberhart; Bartz-Schmidt, Karl Ulrich; Üffing, Marius; Wissinger, Bernd; Seeliger, Mathias und Biel, Martin (2017): Gene Supplementation Therapy for CNGA3-Linked Achromatopsia. In: Molecular therapy, Bd. 25, Nr. 5: S. 354

Schön, Christian; Sothilingam, Vithiyanjali; Mühlfriedel, Regine; Garrido, Marina Garcia; Beck, Susanne C.; Tanimoto, Naoyuki; Wissinger, Bernd; Paquet-Durand, Francois; Biel, Martin; Michalakis, Stylianos und Seeliger, Mathias W. (2017): Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43). In: Human Gene therapy, Bd. 28, Nr. 12: S. 1180-1188

Reichel, Felix F.; Dauletbekov, Daniyar L.; Klein, Reinhild; Peters, Tobias; Ochakoyski, G. Alex; Seitz, Immanuel P.; Wilhelm, Barbara; Üffing, Marius; Biel, Martin; Wissinger, Bernd; Michalakis, Stylianos; Bartz-Schmidt, Karl Ulrich und Fischer, M. Dominik (2017): AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye. In: Molecular therapy, Bd. 25, Nr. 12: S. 2648-2660

Stingl, Katarina; Mayer, Anja K.; Llavona, Pablo; Mulahasanovic, Lejla; Rudolph, Günther; Jacobson, Samuel G.; Zrenner, Eberhart; Kohl, Susanne; Wissinger, Bernd und Weisschuh, Nicole (2017): CDHR1 mutations in retinal dystrophies. In: Scientific Reports, Bd. 7, 6992 [PDF, 4MB]

2016

Weisschuh, Nicole; Mayer, Anja K.; Strom, Tim M.; Kohl, Susanne; Glöckle, Nicola; Schubach, Max; Andreasson, Sten; Bernd, Antje; Birch, David G.; Hamel, Christian P.; Heckenlively, John R.; Jacobson, Samuel G.; Kamme, Christina; Kellner, Ulrich; Kunstmann, Erdmute; Maffei, Pietro; Reiff, Charlotte M.; Rohrschneider, Klaus; Rosenberg, Thomas; Rudolph, Günther; Vámos, Rita; Varsányi, Balázs; Weleber, Richard G. und Wissinger, Bernd (2016): Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
In: PLOS ONE 11(1), e0145951 [PDF, 378kB]

Seitz, Immanuel Philipp; Fischer, M. Dominik; Michalakis, Stylianos; Wilhelm, Barbara; Kahle, Nadine; Zrenner, Eberhart; Ueffing, Marius; Bartz-Schmidt, Karl Ulrich; Biel, Martin; Wissinger, Bernd und Peters, Tobias (2016): rAAV8 biodistribution and shedding after subretinal injection in non-human primates. In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12

Fischer, M. Dominik; Wilhelm, Barbara; Michalakis, Stylianos; Zobor, Ditta; Kohl, Susanne; Seeliger, Matthias; Zrenner, Eberhart; Ueffing, Marius; Wissinger, Bernd; Biel, Martin und Bartz-Schmidt, Karl Ulrich (2016): Successful delivery of rAAV8.CNGA3 in a patient with CNGA3 achromatopsia. In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12

Reichel, Felix Friedrich; Peters, Tobias; Muehlfriedel, Regine; Biel, Martin; Paquet-Durand, Francois; Ueffing, Marius; Wissinger, Bernd; Bartz-Schmidt, Karl Ulrich; Fischer, M. Dominik und Michalakis, Stylianos (2016): Humoral immune response to subretinal AAV8 in non-human primates. In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12

Zobor, Ditta; Kuehlewein, Laura; Weisschuh, Nicole; Hamel, Christian P.; Leroy, Bart Peter; Andreasson, Sten; Carmen, Ayuso; Rudolph, Guenther; Wissinger, Bernd; Kohl, Susanne und Zrenner, Eberhart (2016): Clinical characterization and genotype phenotype correlations in PDE6A-related retinitis pigmentosa. In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12

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