Publications by authors named "Axel Freischmidt"

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Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1-Linked Amyotrophic Lateral Sclerosis.
Christina Steffke, Karthik Baskar, Franziska Bachhuber, Maximilian Wiesenfarth, Johannes Dorst, Axel Freischmidt

Ann Neurol· December 2025

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Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.
Óscar González-Velasco, Rosanna Parlato, Rüstem Yilmaz, Lorena Decker, Sonja Menge, Axel Freischmidt

Brain· December 2025

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Genetics of ALS - genes and modifier.
Sonja Menge, Lorena Decker, Axel Freischmidt

Curr Opin Neurol· October 2025

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Comparing loss of individual fragile X proteins suggests strong links to cellular senescence and aging.
Sonja Menge, Inmaculada Segura, Max Hartmann, Lorena Decker, Selin Kiran, Axel Freischmidt

Cell Mol Life Sci· October 2025

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

Neural Regen Res· July 2025

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Correction: Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Maximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, Özlem Parlak, Ulrike Weiland, Axel Freischmidt

J Neurol· March 2025

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First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity.
Nabila Hamdi, Kathrin Mueller, Amr Hamza, Radwa Soliman, Enass Onbool, Axel Freischmidt

Front Med· December 2024

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Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients.
Banaja P Dash, Axel Freischmidt, Anika M Helferich, Albert C Ludolph, Peter M Andersen

Front Cell Neurosci· November 2024

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Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Maximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, Özlem Parlak, Ulrike Weiland, Axel Freischmidt

J Neurol· October 2024

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An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons.
Banaja P Dash, Axel Freischmidt, Jochen H Weishaupt, Andreas Hermann

Hum Mol Genet· July 2024

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A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice.
David Brenner, Kirsten Sieverding, Jahnavi Srinidhi, Susanne Zellner, Christopher Secker, Axel Freischmidt

J Exp Med· May 2024

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Effects of tofersen treatment in patients with -ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access program.
Maximilian Wiesenfarth, Johannes Dorst, David Brenner, Zeynep Elmas, Özlem Parlak, Axel Freischmidt

EClinicalMedicine· March 2024

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Morbus Fabry and Parkinson's Disease-More Evidence for a Possible Genetic Link.
Susanne Müller, Jan Kassubek, Stephan T Hold, David C Kasper, Benjamin Mayer, Axel Freischmidt

Mov Disord· February 2024

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Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Axel Freischmidt

Nat Commun· December 2023

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The Fragile X Protein Family in Amyotrophic Lateral Sclerosis.
Sarah Mueller, Lorena Decker, Sonja Menge, Albert C Ludolph, Axel Freischmidt

Mol Neurobiol· July 2023

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

Signal Transduct Target Ther· July 2023

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Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov

Brain Commun· May 2023

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Clinical and genetic features of amyotrophic lateral sclerosis patients with mutations.
Maximilian Wiesenfarth, Kornelia Günther, Kathrin Müller, Simon Witzel, Ulrike Weiland, Axel Freischmidt

Brain Commun· March 2023

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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Axel Freischmidt

Nat Commun· January 2023

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Update on genetics of amyotrophic lateral sclerosis.
David Brenner, Axel Freischmidt

Curr Opin Neurol· October 2022

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Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells.
Wolfgang P Ruf, Eilis Hannon, Axel Freischmidt, Veselin Grozdanov, David Brenner

Neurobiol Aging· August 2022

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

Int J Mol Sci· August 2022

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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Wouter van Rheenen, Rick A A van der Spek, Mark K Bakker, Joke J F A van Vugt, Paul J Hop, Axel Freischmidt

Nat Genet· March 2022

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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Wouter van Rheenen, Rick A A van der Spek, Mark K Bakker, Joke J F A van Vugt, Paul J Hop, Axel Freischmidt

Nat Genet· December 2021

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A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations.
Lu Tang, Johannes Dorst, Lu Chen, Xiaolu Liu, Yan Ma, Axel Freischmidt

Transl Neurodegener· October 2021

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