Achromatopsia: Genetics and Gene Therapy
Michalakis, Stylianos, Gerhardt, Maximilian, Rudolph, Günther, Priglinger, Siegfried, Priglinger, Claudia
Published in Molecular diagnosis & therapy (01.01.2022)
Published in Molecular diagnosis & therapy (01.01.2022)
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Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
Yu-Wai-Man, Patrick, Newman, Nancy J, Carelli, Valerio, Moster, Mark L, Biousse, Valerie, Sadun, Alfredo A, Klopstock, Thomas, Vignal-Clermont, Catherine, Sergott, Robert C, Rudolph, Günther, La Morgia, Chiara, Karanjia, Rustum, Taiel, Magali, Blouin, Laure, Burguière, Pierre, Smits, Gerard, Chevalier, Caroline, Masonson, Harvey, Salermo, Yordak, Katz, Barrett, Picaud, Serge, Calkins, David J, Sahel, José-Alain
Published in Science translational medicine (09.12.2020)
Published in Science translational medicine (09.12.2020)
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The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial
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A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency
Garip Kuebler, Aylin, Halfter, Kathrin, Reznicek, Lukas, Klingenstein, Annemarie, Priglinger, Siegfried, Rudolph, Günther, Hintschich, Christoph
Published in Graefe's archive for clinical and experimental ophthalmology (01.11.2021)
Published in Graefe's archive for clinical and experimental ophthalmology (01.11.2021)
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Extraocular muscles involved in convergence are innervated by an additional set of palisade endings that may differ in their excitability: A human study
Lienbacher, Karoline, Sänger, Kathrin, Strassburger, Sebastian, Ehrt, Oliver, Rudolph, Günther, Barnerssoi, Miriam, Horn, Anja K E
Published in Progress in brain research (2019)
Published in Progress in brain research (2019)
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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou‐Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect
Kohl, Susanne, Llavona, Pablo, Sauer, Alexandra, Reuter, Peggy, Weisschuh, Nicole, Kempf, Melanie, Dehmelt, Florian Alexander, Arrenberg, Aristides B, Sliesoraityte, Ieva, Zrenner, Eberhart, van Schooneveld, Mary J, Rudolph, Günther, Kühlewein, Laura, Wissinger, Bernd
Published in Human molecular genetics (17.06.2021)
Published in Human molecular genetics (17.06.2021)
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Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy
Burkard, Markus, Kohl, Susanne, Krätzig, 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, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G, Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W, Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter
Published in The Journal of clinical investigation (01.12.2018)
Published in The Journal of clinical investigation (01.12.2018)
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Cone Dystrophy with Supernormal Rod Response Is Strictly Associated with Mutations in KCNV2
Wissinger, Bernd, Dangel, Susann, Jagle, Herbert, Hansen, Lars, Baumann, Britta, Rudolph, Gunther, Wolf, Christiane, Bonin, Michael, Koeppen, Katja, Ladewig, Thomas, Kohl, Susanne, Zrenner, Eberhart, Rosenberg, Thomas
Published in Investigative ophthalmology & visual science (01.02.2008)
Published in Investigative ophthalmology & visual science (01.02.2008)
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Gene therapy in ophthalmology
Priglinger, Claudia S, Gerhardt, Maximilian J, Rudolph, Günther, Priglinger, Siegfried G, Michalakis, Stylianos
Published in Die Ophthalmologie (01.08.2023)
Published in Die Ophthalmologie (01.08.2023)
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X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Bader, Ingrid, Brandau, Oliver, Achatz, Helene, Apfelstedt-Sylla, Eckart, Hergersberg, Martin, Lorenz, Birgit, Wissinger, Bernd, Wittwer, Barbel, Rudolph, Gunther, Meindl, Alfons, Meitinger, Thomas
Published in Investigative ophthalmology & visual science (01.04.2003)
Published in Investigative ophthalmology & visual science (01.04.2003)
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Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)
Fisher, Sheila A., Rivera, Andrea, Fritsche, Lars G., Keilhauer, Claudia N., Lichtner, Peter, Meitinger, Thomas, Rudolph, Günther, Weber, Bernhard H.F.
Published in Human mutation (01.04.2007)
Published in Human mutation (01.04.2007)
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A tourist with dengue fever and visual loss
Haritoglou, Christos, Dotse, Sarah D, Rudolph, Günther, Stephan, CM, Thurau, SR, Klauβ, Volker
Published in The Lancet (British edition) (05.10.2002)
Published in The Lancet (British edition) (05.10.2002)
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
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, Wissinger, Bernd
Published in PloS one (14.01.2016)
Published in PloS one (14.01.2016)
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CDHR1 mutations in retinal dystrophies
Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Published in Scientific reports (01.08.2017)
Published in Scientific reports (01.08.2017)
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Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis
Gerhardt, Maximilian J, Priglinger, Claudia S, Rudolph, Günther, Hufendiek, Karsten, Framme, Carsten, Jägle, Herbert, Salchow, Daniel J, Anschütz, Andreas, Michalakis, Stylianos, Priglinger, Siegfried G
Published in Biomedicines (30.12.2022)
Published in Biomedicines (30.12.2022)
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Saskia, Berger, Wolfgang, Wissinger, Bernd, Neidhardt, John
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset
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 François, Rudolph, Günther, Karanjia, Rustum, Taiel, Magali, Blouin, Laure, Smits, Gerard, Katz, Barrett, Sahel, José-Alain, Vignal, Catherine, Hage, Rabih, Catarino, Claudia B., Priglinger, Claudia, Priglinger, Siegfried, Thurau, Stephan, von Livonius, Bettina, Muth, Daniel, Wolf, Armin, Al-Tamami, Jasmina, Pressler, Angelika, Schertler, Cosima, Hildebrandt, Martin, Neuenhahn, Michael, Heilweil, Gad, Tsui, Irena, Hubbard, G. Baker, Hendrick, Andrew, Dattilo, Michael, Peragallo, Jason, Hawy, Eman, DuBois, Med, Lindreth, Gibbs, Deborah, Filho, Alcides Fernandes, Dobbs, Jannah, Carbonelli, Michele, Di Vito, Lidia, Contin, Manuela, Mohamed, Susan, La Morgia, Chiara, Silvestri, Sara, Acheson, James, Eleftheriadou, Maria, Esposti, Simona, Gemenetzi, Maria, Leitch-Devlin, Lauren, Tucker, William R., Jurkute, Neringa, SantaMaria, Melissa, Tollis, Heather, Haller, Julie A., Massini, Maria
Published in Ophthalmology (Rochester, Minn.) (01.05.2021)
Published in Ophthalmology (Rochester, Minn.) (01.05.2021)
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