Cryptic exon inclusion in TDP-43 proteinopathies: opportunities and challenges
Decker, Lorena, Menge, Sonja, Freischmidt, Axel
Published in Neural regeneration research (01.07.2025)
Published in Neural regeneration research (01.07.2025)
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Journal Article
TDP-43 is intercellularly transmitted across axon terminals
Feiler, Marisa S, Strobel, Benjamin, Freischmidt, Axel, Helferich, Anika M, Kappel, Julia, Brewer, Bryson M, Li, Deyu, Thal, Dietmar R, Walther, Paul, Ludolph, Albert C, Danzer, Karin M, Weishaupt, Jochen H
Published in The Journal of cell biology (23.11.2015)
Published in The Journal of cell biology (23.11.2015)
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Journal Article
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation
Naumann, Marcel, Pal, Arun, Goswami, Anand, Lojewski, Xenia, Japtok, Julia, Vehlow, Anne, Naujock, Maximilian, Günther, René, Jin, Mengmeng, Stanslowsky, Nancy, Reinhardt, Peter, Sterneckert, Jared, Frickenhaus, Marie, Pan-Montojo, Francisco, Storkebaum, Erik, Poser, Ina, Freischmidt, Axel, Weishaupt, Jochen H., Holzmann, Karlheinz, Troost, Dirk, Ludolph, Albert C., Boeckers, Tobias M., Liebau, Stefan, Petri, Susanne, Cordes, Nils, Hyman, Anthony A., Wegner, Florian, Grill, Stephan W., Weis, Joachim, Storch, Alexander, Hermann, Andreas
Published in Nature communications (23.01.2018)
Published in Nature communications (23.01.2018)
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Journal Article
De novo mutations in SOD1 are a cause of ALS
Müller, Kathrin, Oh, Ki-Wook, Nordin, Angelica, Panthi, Sudhan, Kim, Seung Hyun, Nordin, Frida, Freischmidt, Axel, Ludolph, Albert C, Ki, Chang Seok, Forsberg, Karin, Weishaupt, Jochen, Kim, Young-Eun, Andersen, Peter Munch
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2022)
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Journal Article
Peripheral monocytes are functionally altered and invade the CNS in ALS patients
Zondler, Lisa, Müller, Kathrin, Khalaji, Samira, Bliederhäuser, Corinna, Ruf, Wolfgang P., Grozdanov, Veselin, Thiemann, Meinolf, Fundel-Clemes, Katrin, Freischmidt, Axel, Holzmann, Karlheinz, Strobel, Benjamin, Weydt, Patrick, Witting, Anke, Thal, Dietmar R., Helferich, Anika M., Hengerer, Bastian, Gottschalk, Kay-Eberhard, Hill, Oliver, Kluge, Michael, Ludolph, Albert C., Danzer, Karin M., Weishaupt, Jochen H.
Published in Acta neuropathologica (01.09.2016)
Published in Acta neuropathologica (01.09.2016)
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Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation
Catanese, Alberto, Olde Heuvel, Florian, Mulaw, Medhanie, Demestre, Maria, Higelin, Julia, Barbi, Gotthold, Freischmidt, Axel, Weishaupt, Jochen H., Ludolph, Albert C., Roselli, Francesco, Boeckers, Tobias M.
Published in Autophagy (03.10.2019)
Published in Autophagy (03.10.2019)
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Journal Article
Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice
Brenner, David, Sieverding, Kirsten, Bruno, Clara, Lüningschrör, Patrick, Buck, Eva, Mungwa, Simon, Fischer, Lena, Brockmann, Sarah J, Ulmer, Johannes, Bliederhäuser, Corinna, Philibert, Clémentine E, Satoh, Takashi, Akira, Shizuo, Boillée, Séverine, Mayer, Benjamin, Sendtner, Michael, Ludolph, Albert C, Danzer, Karin M, Lobsiger, Christian S, Freischmidt, Axel, Weishaupt, Jochen H
Published in The Journal of experimental medicine (04.02.2019)
Published in The Journal of experimental medicine (04.02.2019)
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Journal Article
Restoring expression of Stathmin-2: a novel strategy to treat TDP-43 proteinopathies
Menge, Sonja, Decker, Lorena, Freischmidt, Axel
Published in Signal transduction and targeted therapy (12.07.2023)
Published in Signal transduction and targeted therapy (12.07.2023)
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Journal Article
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Megat, Salim, Mora, Natalia, Sanogo, Jason, Roman, Olga, Catanese, Alberto, Alami, Najwa Ouali, Freischmidt, Axel, Mingaj, Xhuljana, De Calbiac, Hortense, Muratet, François, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, Kathrin, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sommacal, Andreas, Van Eijk, Kristel R., Veldink, Jan H., Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Boeckers, Tobias, Ludolph, Albert C., Roselli, Francesco, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, Luc
Published in Nature communications (20.01.2023)
Published in Nature communications (20.01.2023)
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Journal Article
Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis
Freischmidt, Axel, Müller, Kathrin, Ludolph, Albert C, Weishaupt, Jochen H
Published in Acta neuropathologica communications (30.07.2013)
Published in Acta neuropathologica communications (30.07.2013)
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Journal Article
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Megat, Salim, Mora, Natalia, Sanogo, Jason, Roman, Olga, Catanese, Alberto, Alami, Najwa Ouali, Freischmidt, Axel, Mingaj, Xhuljana, De Calbiac, Hortense, Muratet, François, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, Kathrin, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sommacal, Andreas, Van Eijk, Kristel R., Veldink, Jan H., Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Boeckers, Tobias, Ludolph, Albert C., Roselli, Francesco, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, Luc
Published in Nature communications (04.12.2023)
Published in Nature communications (04.12.2023)
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Journal Article
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
Brockmann, Sarah J, Freischmidt, Axel, Oeckl, Patrick, Müller, Kathrin, Ponna, Srinivas K, Helferich, Anika M, Paone, Christoph, Reinders, Jörg, Kojer, Kerstin, Orth, Michael, Jokela, Manu, Auranen, Mari, Udd, Bjarne, Hermann, Andreas, Danzer, Karin M, Lichtner, Peter, Walther, Paul, Ludolph, Albert C, Andersen, Peter M, Otto, Markus, Kursula, Petri, Just, Steffen, Weishaupt, Jochen H
Published in Human molecular genetics (15.02.2018)
Published in Human molecular genetics (15.02.2018)
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Journal Article
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
Brenner, David, Müller, Kathrin, Lattante, Serena, Yilmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H.
Published in Neurogenetics (01.01.2022)
Published in Neurogenetics (01.01.2022)
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Journal Article
A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations
Tang, Lu, Dorst, Johannes, Chen, Lu, Liu, Xiaolu, Ma, Yan, Günther, Kornelia, Michels, Sebastian, Müller, Kathrin, Freischmidt, Axel, Weishaupt, Jochen H, Fan, Dongsheng, Ludolph, Albert C
Published in Translational neurodegeneration (28.10.2021)
Published in Translational neurodegeneration (28.10.2021)
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Journal Article
Protein Binding Partners of Dysregulated miRNAs in Parkinson's Disease Serum
Ruf, Wolfgang P, Freischmidt, Axel, Grozdanov, Veselin, Roth, Valerie, Brockmann, Sarah J, Mollenhauer, Brit, Martin, Dorothea, Haslinger, Bernhard, Fundel-Clemens, Katrin, Otto, Markus, Arnim, Christine von, Holzmann, Karlheinz, Ludolph, Albert C, Weishaupt, Jochen H, Danzer, Karin M
Published in Cells (Basel, Switzerland) (02.04.2021)
Published in Cells (Basel, Switzerland) (02.04.2021)
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Journal Article
The Fragile X Protein Family in Amyotrophic Lateral Sclerosis
Mueller, Sarah, Decker, Lorena, Menge, Sonja, Ludolph, Albert C., Freischmidt, Axel
Published in Molecular neurobiology (01.07.2023)
Published in Molecular neurobiology (01.07.2023)
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