Search Results - Ute Hehr

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  1. 1

    Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance by Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart

    Published in Frontiers in Genetics (2022-07-01)
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  2. 2

    Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10 by Bernadett Kurz, MD, Kevin-Thomas Koschitzki, MD, Ute Hehr, MD, Ute Germer, MD, Julia Schreml, MD, Florian Langhammer, MD, Stephan Schreml, MD

    Published in JAAD Case Reports (2023-05-01)
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  3. 3

    Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D by Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke

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  4. 4

    An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons by Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss, Ioannis Lingos, Stephanie Reischl, Holger Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Juergen Winkler

    Published in Nature Communications (2022-11-01)
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  5. 5

    Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease by Jan Philipp Dobert, Simon Bub, Rebecca Mächtel, Dovile Januliene, Lisa Steger, Martin Regensburger, Sibylle Wilfling, Jia‐Xuan Chen, Mario Dejung, Sonja Plötz, Ute Hehr, Arne Moeller, Philipp Arnold, Friederike Zunke

    Published in Advanced Science (2024-07-01)
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  6. 6

    Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression by Matthias Lubnow, Barbara Schmidt, Martin Fleck, Bernd Salzberger, Thomas Müller, Georg Peschel, Roland Schneckenpointner, Tobias Lange, Florian Hitzenbichler, Martin Kieninger, Dirk Lunz, Bernhard Graf, Christoph Brochhausen, Florian Weber, Florian Lüke, David Peterhoff, Philipp Schuster, Andreas Hiergeist, Robert Offner, Ute Hehr, Stefan Wallner, Frank Hanses, Stephan Schmid, Kilian Weigand, Florian Geismann, Hendrik Poeck, Tobias Pukrop, Matthias Evert, Andre Gessner, Ralph Burkhardt, Wolfgang Herr, Lars S. Maier, Daniel Heudobler

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  7. 7

    Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly by Christiane R. Proepper, Lisa-Maria Schwarz, Sofia M. Schuetz, Katja von Au, Thomas Bast, Nathalie Beaud, Ingo Borggraefe, Friedrich Bosch, Melanie Busse, Jena Chung, Otfried Debus, Katharina Diepold, Thomas Fries, Gero von Gersdorff, Martin Haeussler, Andreas Hahn, Till Hartlieb, Ralf Heiming, Peter Herkenrath, Gerhard Kluger, Jonas H. Kreth, Gerhard Kurlemann, Peter Moeller, Deborah J. Morris-Rosendahl, Axel Panzer, Heike Philippi, Sophia Ruegner, Carolina Toepfer, Silvia Vieker, Adelheid Wiemer-Kruel, Anika Winter, Gerhard Schuierer, Ute Hehr, Tobias Geis

    Published in Orphanet Journal of Rare Diseases (2026-05-01)
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  8. 8

    Systematic assessment of COVID-19 host genetics using whole genome sequencing data. by Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, DeCOI host genetics group, T Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V Schmidt, Philipp Schommers, Christoph D Spinner, Maria J G T Vehreschild, Thirumalaisamy P Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J Brent Richards, DeCOI, André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L Schultze, Peter Nürnberg, Markus M Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C Schulte, Kerstin U Ludwig

    Published in PLoS Pathogens (2024-12-01)
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