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Anzahl der Publikationen: 8
Zeitschriftenartikel
Kajtna, Jacqueline; Tsang, Stephen H. und Koch, Susanne F.
(2022):
Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model.
In: Cellular and Molecular Life Sciences, Bd. 79, Nr. 3
[PDF, 13MB]
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
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
Reichel, Felix Friedrich 
ORCID: https://orcid.org/0000-0001-9325-5616; Michalakis, Stylianos ORCID: https://orcid.org/0000-0001-5092-9238; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura ORCID: https://orcid.org/0000-0003-1906-8681; Kahle, Nadine; Seitz, Immanuel ORCID: https://orcid.org/0000-0002-3086-6425; Paquet-Durand, Francois ORCID: 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
ORCID: https://orcid.org/0000-0001-9325-5616; Michalakis, Stylianos ORCID: https://orcid.org/0000-0001-5092-9238; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura ORCID: https://orcid.org/0000-0003-1906-8681; Kahle, Nadine; Seitz, Immanuel ORCID: https://orcid.org/0000-0002-3086-6425; Paquet-Durand, Francois ORCID: 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
Wert, Katherine J.; Koch, Susanne F.; Velez, Gabriel; Hsu, Chun-Wei; Mahajan, MaryAnn; Bassuk, Alexander G.; Tsang, Stephen H. und Mahajan, Vinit B.
(2019):
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.
In: Human Mutation, Bd. 40, Nr. 12: S. 2377-2392
Koch, Susanne F. und Tsang, Stephen H.
(2018):
Success of Gene Therapy in Late-Stage Treatment.
In: Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, Bd. 1074: S. 101-107
Petersen-Jones, Simon M.; Occelli, Laurence M.; Winkler, Paige A.; Lee, Winston; Sparrow, Janet R.; Tsukikawa, Mai; Boye, Sanford L.; Chiodo, Vince; Capasso, Jenina E.; Becirovic, Elvir; Schön, Christian; Seeliger, Mathias W.; Levin, Alex V.; Michalakis, Stylianos; Hauswirth, William W. und Tsang, Stephen H.
(2018):
Patients and animal models of CNG beta 1-deficient retinitis pigmentosa support gene augmentation approach.
In: Journal of Clinical Investigation, Bd. 128, Nr. 1: S. 190-206
[PDF, 23MB]
Koch, Susanne F.; Duong, Jimmy K.; Hsu, Chun-Wei; Tsai, Yi-Ting; Lin, Chyuan-Sheng; Wahl-Schott, Christian A. und Tsang, Stephen H.
(2017):
Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa.
In: Proceedings of the National Academy of Sciences of the United States of America, Bd. 114, Nr. 20: S. 5259-5264