Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

by Saskia Breuel, Mariann Vorm, Anja U. Bräuer, Marta Owczarek-Lipska, John Neidhardt
Published 2019-12-01

Translational Read-Through Therapy of <i>RPGR</i> Nonsense Mutations

by Christine Vössing, Marta Owczarek-Lipska, Kerstin Nagel-Wolfrum, Charlotte Reiff, Christoph Jüschke, John Neidhardt
Published 2020-11-01

A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).

by Marta Owczarek-Lipska, Vidhya Jagannathan, Cord Drögemüller, Sabina Lutz, Barbara Glanemann, Tosso Leeb, Peter H Kook
Published 2013-01-01

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

by Fei Song, Marta Owczarek-Lipska, Tim Ahmels, Marius Book, Sabine Aisenbrey, Moreno Menghini, Daniel Barthelmes, Stefan Schrader, Georg Spital, John Neidhardt
Published 2021-08-01

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

by Mirjam Frischknecht, Helena Niehof-Oellers, Vidhya Jagannathan, Marta Owczarek-Lipska, Cord Drögemüller, Elisabeth Dietschi, Gaudenz Dolf, Bernd Tellhelm, Johann Lang, Katriina Tiira, Hannes Lohi, Tosso Leeb
Published 2013-01-01

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

by Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Published 2020-09-01

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

by Marjo K Hytönen, Meharji Arumilli, Anu K Lappalainen, Marta Owczarek-Lipska, Vidhya Jagannathan, Sruthi Hundi, Elina Salmela, Patrick Venta, Eva Sarkiala, Tarja Jokinen, Daniela Gorgas, Juha Kere, Pekka Nieminen, Cord Drögemüller, Hannes Lohi
Published 2016-05-01

Two loci on chromosome 5 are associated with serum IgE levels in Labrador retrievers.

by Marta Owczarek-Lipska, Béatrice Lauber, Vivianne Molitor, Sabrina Meury, Marcin Kierczak, Katarina Tengvall, Matthew T Webster, Vidhya Jagannathan, Yvette Schlotter, Ton Willemse, Anke Hendricks, Kerstin Bergvall, Ake Hedhammar, Göran Andersson, Kerstin Lindblad-Toh, Claude Favrot, Petra Roosje, Eliane Marti, Tosso Leeb
Published 2012-01-01

A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation.

by Vidhya Jagannathan, Jeanette Bannoehr, Philippe Plattet, Regula Hauswirth, Cord Drögemüller, Michaela Drögemüller, Dominique J Wiener, Marcus Doherr, Marta Owczarek-Lipska, Arnaud Galichet, Monika M Welle, Katarina Tengvall, Kerstin Bergvall, Hannes Lohi, Silvia Rüfenacht, Monika Linek, Manon Paradis, Eliane J Müller, Petra Roosje, Tosso Leeb
Published 2013-01-01

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

by Anne Gläser, Franziska Hammerl, Markus H. Gräler, Sina M. Coldewey, Christin Völkner, Moritz J. Frech, Fan Yang, Jiankai Luo, Eric Tönnies, Oliver von Bohlen und Halbach, Nicola Brandt, Diana Heimes, Anna-Maria Neßlauer, Georg Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Arndt Rolfs, Andreas Wree, Martin Witt, Anja Ursula Bräuer
Published 2020-06-01