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Anzahl der Publikationen: 8
Zeitschriftenartikel
Schworm, Benedikt 
ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
Siedlecki, Jakob ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
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
Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Moster, Mark L.; Biousse, Valerie; Vignal-Clermont, Catherine; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Barboni, Piero; DeBusk, Adam A.; Girmens, Jean Francois; Rudolph, Guenther; Karanjia, Rustum; Taiel, Magali; Blouin, Laure; Smits, Gerard; Katz, Barrett und Sahel, Jose-Alain
(2021):
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
In: Ophthalmology, Bd. 128, Nr. 5: S. 649-660
Catarino, Claudia B.; Livonius, Bettina von; Priglinger, Claudia; Banik, Rudrani; Matloob, Selma; Tamhankar, Madhura A.; Castillo, Lorena; Friedburg, Christoph; Halfpenny, Christopher A.; Lincoln, John A.; Traber, Ghislaine L.; Acaroglu, Goelge; Black, Graeme C. M.; Doncel, Carlos; Fraser, Clare L.; Jakubaszko, Joanna; Landau, Klara; Langenegger, Stefan J.; Munoz-Negrete, Francisco J.; Newman, Nancy J.; Poulton, Joanna; Scoppettuolo, Elisabetta; Subramanian, Prem; Toosy, Ahmed T.; Vidal, Mariona; Vincent, Andrea L.; Votruba, Marcela; Zarowski, Marcin; Zermansky, Adam; Lob, Felice; Rudolph, Guenther; Mikazans, Oskars; Silva, Magda; Lloria, Xavier; Metz, Guenther und Klopstock, Thomas
(2020):
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
In: Journal of Neuro-Ophthalmology, Bd. 40, Nr. 4: S. 558-565
Stendel, Claudia; Wagner, Matias; Rudolph, Guenther und Klopstock, Thomas
(2019):
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
In: Neuropediatrics, Bd. 50, Nr. 6: S. 382-386
Waksmunski, Andrea R.; Grunin, Michelle; Kinzy, Tyler G.; Igo, Robert P.; Haines, Jonathan L.; Bailey, Jessica N. Cooke; Fritsche, Lars G.; Igl, Wilmar; Grassmann, Felix; Sengupta, Sebanti; Bragg-Gresham, Jennifer L.; Burdon, Kathryn P.; Hebbring, Scott J.; Wen, Cindy; Gorski, Mathias; Kim, Ivana K.; Cho, David; Zack, Donald; Souied, Eric; Scholl, Hendrik P. N.; Bala, Elisa; Lee, Kristine E.; Hunter, David J.; Sardell, Rebecca J.; Mitchell, Paul; Merriam, Joanna E.; Cipriani, Valentina; Hoffman, Joshua D.; Schick, Tina; Lechanteur, Yara T. E.; Guymer, Robyn H.; Johnson, Matthew P.; Jiang, Yingda; Stanton, Chloe M.; Buitendijk, Gabrielle H. S.; Zhan, Xiaowei; Kwong, Alan M.; Boleda, Alexis; Brooks, Matthew; Gieser, Linn; Ratnapriya, Rinki; Branham, Kari E.; Foerster, Johanna R.; Heckenlively, John R.; Othman, Mohammad; Vote, Brendan J.; Liang, Helena Hai; Souzeau, Emmanuelle; McAllister, Ian L.; Isaacs, Timothy; Hall, Janette; Lake, Stewart; Mackey, David A.; Constable, Ian J.; Craig, Jamie E.; Kitchner, Terrie E.; Yang, Zhenglin; Su, Zhiguang; Luo, Hongrong; Chen, Daniel; Ouyang, Hong; Flagg, Ken; Lin, Danni; Mao, Guanping; Ferreyra, Henry; Stark, Klaus; von Strachwitz, Claudia N.; Wolf, Armin; Brandl, Caroline; Rudolph, Guenther; Olden, Matthias; Morrison, Margaux A.; Morgan, Denise J.; Schu, Matthew; Ahn, Jeeyun; Silvestri, Giuliana; Tsironi, Evangelia E.; Park, Kyu Hyung; Farrer, Lindsay A.; Orlin, Anton; Brucker, Alexander; Li, Mingyao; Curcio, Christine A.; Mohand-Said, Saddek; Sahel, Jose-Alain; Audo, Isabelle; Benchaboune, Mustapha; Cree, Angela J.; Rennie, Christina A.; Goverdhan, Srinivas; Hagbi-Levi, Shira; Campochiaro, Peter; Katsanis, Nicholas; Holz, Frank G.; Blond, Frederic; Blanche, Helene; Deleuze, Jean-Francois; Truitt, Barbara; Peachey, Neal S.; Meuer, Stacy M.; Myers, Chelsea E.; Moore, Emily L.; Klein, Ronald; Hauser, Michael A.; Postel, Eric A.; Courtenay, Monique D.; Schwartz, Stephen G.; Kovach, Jaclyn L.; Scott, William K.; Liew, Gerald; Tan, Ava G.; Gopinath, Bamini; Merriam, John C.; Smith, R. Theodore; Khan, Jane C.; Shahid, Humma; Moore, Anthony T.; McGrath, J. Allie; Laux, Renee; Brantley, Milam A.; Agarwal, Anita; Ersoy, Lebriz; Caramoy, Albert; Langmann, Thomas; Saksens, Nicole T. M.; de Jong, Eiko K.; Hoyng, Carel B.; Cain, Melinda S.; Richardson, Andrea J.; Martin, Tammy M.; Blangero, John; Weeks, Daniel E.; Dhillon, Bal; van Duijn, Cornelia M.; Doheny, Kimberly F.; Romm, Jane; Klaver, Caroline C. W.; Hayward, Caroline; Gorin, Michael B.; Klein, Michael L.; Baird, Paul N.; den Hollander, Anneke; Fauser, Sascha; Yates, John R. W.; Allikmets, Rando; Wang, Jie Jin; Schaumberg, Debra A.; Klein, Barbara E. K.; Hagstrom, Stephanie A.; Chowers, Itay; Lotery, Andrew J.; Leveillard, Thierry; Zhang, Kang; Brilliant, Murray H.; Hewitt, Alex W.; Swaroop, Anand; Chew, Emily Y.; Pericak-Vance, Margaret A.; DeAngelis, Margaret; Stambolian, Dwight; Iyengar, Sudha K.; Weber, Bernhard H. F.; Abecasis, Goncalo R. und Heid, Iris M.
(2019):
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration.
In: Investigative Ophthalmology & Visual Science, Bd. 60, Nr. 12: S. 4041-4051
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