Hasil Pencarian - Axel Freischmidt

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  1. 1
    Cryptic exon inclusion in TDP-43 proteinopathies: opportunities and challenges

    Cryptic exon inclusion in TDP-43 proteinopathies: opportunities and challenges oleh Lorena Decker, Sonja Menge, Axel Freischmidt

    Diterbitkan 2025-07-01
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  2. 2
    Restoring expression of Stathmin-2: a novel strategy to treat TDP-43 proteinopathies

    Restoring expression of Stathmin-2: a novel strategy to treat TDP-43 proteinopathies oleh Sonja Menge, Lorena Decker, Axel Freischmidt

    Diterbitkan 2023-07-01
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  3. 3
    Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity

    Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity oleh Axel Freischmidt, Axel Freischmidt, David Brenner, David Brenner, Albert C. Ludolph, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, Jochen H. Weishaupt

    Diterbitkan 2020-09-01
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  4. 4
    Downstream Effects of Mutations in <i>SOD1</i> and <i>TARDBP</i> Converge on Gene Expression Impairment in Patient-Derived Motor Neurons

    Downstream Effects of Mutations in <i>SOD1</i> and <i>TARDBP</i> Converge on Gene Expression Impairment in Patient-Derived Motor Neurons oleh Banaja P. Dash, Axel Freischmidt, Jochen H. Weishaupt, Andreas Hermann

    Diterbitkan 2022-08-01
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  5. 5
    A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations

    A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations oleh Lu Tang, Johannes Dorst, Lu Chen, Xiaolu Liu, Yan Ma, Kornelia Günther, Sebastian Michels, Kathrin Müller, Axel Freischmidt, Jochen H. Weishaupt, Dongsheng Fan, Albert C. Ludolph

    Diterbitkan 2021-10-01
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  6. 6
    Protein Binding Partners of Dysregulated miRNAs in Parkinson’s Disease Serum

    Protein Binding Partners of Dysregulated miRNAs in Parkinson’s Disease Serum oleh Wolfgang P. Ruf, Axel Freischmidt, Veselin Grozdanov, Valerie Roth, Sarah J. Brockmann, Brit Mollenhauer, Dorothea Martin, Bernhard Haslinger, Katrin Fundel-Clemens, Markus Otto, Christine von Arnim, Karlheinz Holzmann, Albert C. Ludolph, Jochen H. Weishaupt, Karin M. Danzer

    Diterbitkan 2021-04-01
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  7. 7
    Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

    Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation oleh Marcel Naumann, Arun Pal, Anand Goswami, Xenia Lojewski, Julia Japtok, Anne Vehlow, Maximilian Naujock, René Günther, Mengmeng Jin, Nancy Stanslowsky, Peter Reinhardt, Jared Sterneckert, Marie Frickenhaus, Francisco Pan-Montojo, Erik Storkebaum, Ina Poser, Axel Freischmidt, Jochen H. Weishaupt, Karlheinz Holzmann, Dirk Troost, Albert C. Ludolph, Tobias M. Boeckers, Stefan Liebau, Susanne Petri, Nils Cordes, Anthony A. Hyman, Florian Wegner, Stephan W. Grill, Joachim Weis, Alexander Storch, Andreas Hermann

    Diterbitkan 2018-01-01
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  8. 8
    Integrative genetic analysis illuminates ALS heritability and identifies risk genes

    Integrative genetic analysis illuminates ALS heritability and identifies risk genes oleh Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis

    Diterbitkan 2023-01-01
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  9. 9
    Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

    Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes oleh Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis

    Diterbitkan 2023-12-01
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  10. 10
    Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access programResearch in context

    Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access programResearch in context... oleh Maximilian Wiesenfarth, Johannes Dorst, David Brenner, Zeynep Elmas, Özlem Parlak, Zeljko Uzelac, Katharina Kandler, Kristina Mayer, Ulrike Weiland, Christine Herrmann, Joachim Schuster, Axel Freischmidt, Kathrin Müller, Reiner Siebert, Franziska Bachhuber, Tatiana Simak, Kornelia Günther, Elke Fröhlich, Antje Knehr, Martin Regensburger, Alexander German, Susanne Petri, Julian Grosskreutz, Thomas Klopstock, Peter Reilich, Florian Schöberl, Tim Hagenacker, Ute Weyen, René Günther, Maximilian Vidovic, Martin Jentsch, Thomas Haarmeier, Patrick Weydt, Ivan Valkadinov, Jasper Hesebeck-Brinckmann, Julian Conrad, Jochen Hans Weishaupt, Peggy Schumann, Peter Körtvélyessy, Thomas Meyer, Wolfgang Philipp Ruf, Simon Witzel, Makbule Senel, Hayrettin Tumani, Albert Christian Ludolph

    Diterbitkan 2024-03-01
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