Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

por Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2019

CT Assessment of Intraorbital Cable Movement of Electronic Subretinal Prosthesis in Three Different Surgical Approaches

por Faber, Hanna, Ernemann, Ulrike, Sachs, Helmut, Gekeler, Florian, Danz, Søren, Koitschev, Assen, Besch, Dorothea, Bartz-Schmidt, Karl-Ulrich, Zrenner, Eberhart, Stingl, Katarina, Kernstock, Christoph
Publicado 2021

Artificial vision with wirelessly powered subretinal electronic implant alpha-IMS

por Stingl, Katarina, Bartz-Schmidt, Karl Ulrich, Besch, Dorothea, Braun, Angelika, Bruckmann, Anna, Gekeler, Florian, Greppmaier, Udo, Hipp, Stephanie, Hörtdörfer, Gernot, Kernstock, Christoph, Koitschev, Assen, Kusnyerik, Akos, Sachs, Helmut, Schatz, Andreas, Stingl, Krunoslav T., Peters, Tobias, Wilhelm, Barbara, Zrenner, Eberhart
Publicado 2013

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

por Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Publicado 2020

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

por Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Publicado 2019

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

por Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, José Luiz, Maroofian, Reza
Publicado 2022

Treatment of optic neuritis with erythropoietin (TONE): a randomised, double-blind, placebo-controlled trial—study protocol

por Diem, Ricarda, Molnar, Fanni, Beisse, Flemming, Gross, Nikolai, Drüschler, Katharina, Heinrich, Sven P, Joachimsen, Lutz, Rauer, Sebastian, Pielen, Amelie, Sühs, Kurt-Wolfram, Linker, Ralf Andreas, Huchzermeyer, Cord, Albrecht, Philipp, Hassenstein, Andrea, Aktas, Orhan, Guthoff, Tanja, Tonagel, Felix, Kernstock, Christoph, Hartmann, Kathrin, Kümpfel, Tania, Hein, Katharina, van Oterendorp, Christian, Grotejohann, Birgit, Ihorst, Gabriele, Maurer, Julia, Müller, Matthias, Volkmann, Martin, Wildemann, Brigitte, Platten, Michael, Wick, Wolfgang, Heesen, Christoph, Schiefer, Ulrich, Wolf, Sebastian, Lagrèze, Wolf A
Publicado 2016