Achromatopsia: Genetics and Gene Therapy

por Michalakis, Stylianos, Gerhardt, Maximilian, Rudolph, Günther, Priglinger, Siegfried, Priglinger, Claudia
Publicado 2021

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

por Garip Kuebler, Aylin, Halfter, Kathrin, Reznicek, Lukas, Klingenstein, Annemarie, Priglinger, Siegfried, Rudolph, Günther, Hintschich, Christoph
Publicado 2021

CDHR1 mutations in retinal dystrophies

por Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2017

Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis

por Gerhardt, Maximilian J., Priglinger, Claudia S., Rudolph, Günther, Hufendiek, Karsten, Framme, Carsten, Jägle, Herbert, Salchow, Daniel J., Anschütz, Andreas, Michalakis, Stylianos, Priglinger, Siegfried G.
Publicado 2022

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

por 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
Publicado 2021

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

por 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
Publicado 2016

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

por Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-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, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
Publicado 2020