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Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 18
2022
Nagel-Wolfrum, Kerstin; Fadl, Benjamin R.; Becker, Mirjana M.; Wunderlich, Kirsten A.; Schäfer, Jessica; Sturm, Daniel; Fritze, Jacques; Gür, Burcu; Kaplan, Lew; Andreani, Tommaso; Goldmann, Tobias; Brooks, Matthew; Starostik, Margaret R.; Lokhande, Anagha; Apel, Melissa; Fath, Karl R.; Stingl, Katarina; Kohl, Susanne; DeAngelis, Margaret M.; Schlötzer-Schrehardt, Ursula; Kim, Ivana K.; Owen, Leah A.; Vetter, Jan M.; Pfeiffer, Norbert; Andrade-Navarro, Miguel A.; Grosche, Antje; Swaroop, Anand und Wolfrum, Uwe
(2022):
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
In: Human Molecular Genetics, Bd. 32, Nr. 3: S. 431-449
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: 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
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
2020
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
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
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
2018
Kahle, Nadine A.; Peters, Tobias; Zobor, Ditta; Kuehlewein, Laura; Kohl, Susanne; Zhour, Ahmad; Werner, Annette; Seitz, Immanuel P.; Sothilingam, Vithiyanjali; Michalakis, Stylianos; Biel, Martin; Ueffing, Marius; Zrenner, Eberhart; Bartz-Schmidt, Karl U.; Fischer, M. Dominik und Wilhelm, Barbara J. C.
(2018):
Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.
In: Human Gene Therapy Clinical Development, Bd. 29, Nr. 3: S. 121-131
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
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
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
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]
In: PLOS ONE 11(1), e0145951 [PDF, 378kB]
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
Becirovic, Elvir; Böhm, Sybille; Nguyen, Ong Nam Phuong; Riedmayr, Lisa Maria; Koch, Mirja Annika; Schulze, Elisabeth; Kohl, Susanne; Borsch, Oliver; Santos-Ferreira, Tiago; Ader, Marius; Michalakis, Stylianos und Biel, Martin
(2016):
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
In: PLOS Genetics 12(1), e1005811 [PDF, 8MB]
In: PLOS Genetics 12(1), e1005811 [PDF, 8MB]
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