An early onset cone dystrophy due to CEP290 mutation: a case report

por Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina
Publicado 2023

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

por Weisschuh, Nicole, Marino, Valerio, Schäferhoff, Karin, Richter, Paul, Park, Joohyun, Haack, Tobias B, Dell’Orco, Daniele
Publicado 2021

Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells

por Dix, Andreas, Czakai, Kristin, Leonhardt, Ines, Schäferhoff, Karin, Bonin, Michael, Guthke, Reinhard, Einsele, Hermann, Kurzai, Oliver, Löffler, Jürgen, Linde, Jörg
Publicado 2017

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

por Kellner, Ulrich, Weisschuh, Nicole, Weinitz, Silke, Farmand, Ghazaleh, Deutsch, Sebastian, Kortüm, Friederike, Mazzola, Pascale, Schäferhoff, Karin, Marino, Valerio, Dell’Orco, Daniele
Publicado 2021

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

por Reith, Milda, Zeltner, Lena, Schäferhoff, Karin, Witt, Dennis, Zuleger, Theresia, Haack, Tobias B., Bornemann, Antje, Alber, Michael, Ruf, Susanne, Schoels, Ludger, Stingl, Katarina, Weisschuh, Nicole
Publicado 2022

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

por Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2021

Transcriptional response of Escherichia coli to ammonia and glucose fluctuations

por Simen, Joana Danica, Löffler, Michael, Jäger, Günter, Schäferhoff, Karin, Freund, Andreas, Matthes, Jakob, Müller, Jan, Takors, Ralf, Feuer, Ronny, von Wulffen, Joachim, Lischke, Julia, Ederer, Michael, Knies, David, Kunz, Samantha, Sawodny, Oliver, Riess, Olaf, Sprenger, Georg, Trachtmann, Natalie, Nieß, Alexander, Broicher, Alexander
Publicado 2017

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