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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 11

Zeitschriftenartikel

Yu-Wai-Man, Patrick; Newman, Nancy J.; Biousse, Valérie; Carelli, Valerio; Moster, Mark L.; Vignal-Clermont, Catherine; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Sadun, Alfredo A.; Sergott, Robert C.; Hage, Rabih; Degli Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Taiel, Magali; Sahel, José-Alain; Barboni, Piero; Carbonelli, Michele; Di Vito, Lidia; Amore, Giulia; Contin, Manuela; Mohamed, Susan; Silvestri, Sara; Baker Hubbard, George; Hendrick, Andrew M.; Dattilo, Michael; Peragallo, Jason H.; Hawy, Eman; DuBois, Lindreth; Gibbs, Deborah; Fernandes Filho, Alcides; Dobbs, Jannah; Aung, Andre; Acheson, James; Boston, Hayley; Eleftheriadou, Maria; Gemenetzi, Maria; Leitch-Devlin, Lauren; Tucker, William R.; Jurkute, Neringa; Burale, Asma; DeBusk, Adam A.; Haller, Julia A.; Massini, Maria; SantaMaria, Melissa; Tollis, Heather; Girmens, Jean-François; Plaine, Lise; Khemliche, Wahiba; Catarino, Claudia B.; Priglinger, Siegfried ORCID logoORCID: https://orcid.org/0000-0002-5580-612X; Rudolph, Günther; Thurau, Stephan R.; Livonius, Bettina von; Muth, Daniel; Wolf, Armin; Al-Tamami, Jasmina; Pressler, Angelika; Schertler, Cosima; Hildebrandt, Martin; Neuenhahn, Michael; Heilweil, Gad und Tsui, Irena (2024): Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy. In: JAMA Ophthalmology [Forthcoming]

Michalakis, Stylianos; Gerhardt, Maximilian; Rudolph, Günther; Priglinger, Siegfried und Priglinger, Claudia (2022): Achromatopsia: Genetics and Gene Therapy. In: Molecular diagnosis & therapy, Bd. 26: S. 51-59 [PDF, 1MB]

Garip Kübler, Aylin; Halfter, Kathrin; Reznicek, Lukas; Klingenstein, Annemarie; Priglinger, Siegfried; Rudolph, Günther und Hintschich, Christoph (2022): Evaluation of visual evoked potentials in dysthyroid optic neuropathy. In: Orbit, Bd. 42, Nr. 5: S. 475-480

Garip Kuebler, Aylin; Halfter, Kathrin; Reznicek, Lukas; Klingenstein, Annemarie; Priglinger, Siegfried; Rudolph, Günther und Hintschich, Christoph (2021): A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency. In: Oculoplastics and Orbit [PDF, 633kB]

Garip Kübler, Aylin; Halfter, Kathrin; Reznicek, Lukas; Klingenstein, Annemarie; Priglinger, Siegfried; Rudolph, Günther und Hintschich, Christoph (2021): A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency. In: Graefes Archive for Clinical and Experimental Ophthalmology, Bd. 259, Nr. 11: S. 3421-3426

Michalakis, Stylianos; Gerhardt, Maximilian; Rudolph, Günther; Priglinger, Siegfried und Priglinger, Claudia (2021): Achromatopsia: Genetics and Gene Therapy. In: Molecular Diagnosis & Therapy, Bd. 26, Nr. 1: S. 51-59

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]

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

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]

Rudolph, Günther (2016): Ophthalmogenetik: Seltene Erkrankungen – Eine Herausforderung für Diagnose und Behandlung. In: Klinische Monatsblätter für Augenheilkunde, Bd. 233, Nr. 3: S. 242

Fritsche, Lars G.; Igl, Wilmar; Bailey, Jessica N. Cooke; Wolf, Armin und Rudolph, Günther (2016): A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. In: Nature Genetics, Bd. 48, Nr. 2: S. 134-143

Diese Liste wurde am Sat Jan 4 21:12:29 2025 CET erstellt.