Publications by authors named "Deschauer Marcus"

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Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.
Bogdan Bjelica, Camilla Wohnrade, Alma Osmanovic, Olivia Schreiber-Katz, Sonja Koerner, Marcus Deschauer

Eur J Neurol· November 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Marcus Deschauer

Brain· October 2025

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The Diverse Neuromuscular Spectrum of VPS13A Disease.
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck-Woedl, Marcus Deschauer

Ann Clin Transl Neurol· October 2025

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Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.
Claudia D Wurster, Benjamin Stolte, Tobias Kessler, Maren Freigang, Bogdan Bjelica, Marcus Deschauer

Orphanet J Rare Dis· September 2025

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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Benedikt Becker, Isabell Cordts, Jutta Becker, Rene Günther, Matthias Baumann, Marcus Deschauer

J Neuromuscul Dis· September 2025

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State of the art: Pregnancy in spinal muscular atrophy in the treatment era.
Maggie C Walter, Bernert Günther, Blaschek Astrid, Deschauer Marcus, Günther René

J Neuromuscul Dis· September 2025

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Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine.
Joachim Schmitt, Dominik Weidlich, Kilian Weiss, Jonathan Stelter, Federica Montagnese, Marcus Deschauer

PLoS One· April 2025

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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.
Veronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, Angelo D'Alessandro, Monika Dzieciatkowska, Marcus Deschauer

Acta Neuropathol Commun· April 2025

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Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.
Isabell Cordts, Cornelia Fuetterer, Annika Wachinger, Ricarda von Heynitz, Tobias Kessler, Marcus Deschauer

Neurology· March 2025

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Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.
Jan C Koch, Andreas Leha, Helen Bidner, Isabell Cordts, Johannes Dorst, Marcus Deschauer

Lancet Neurol· November 2024

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[Expert recommendations for magnetic resonance imaging of muscle disorders].
Rachel Zeng, Sarah Schlaeger, Matthias Türk, Thomas Baum, Marcus Deschauer

Radiologie (Heidelb)· August 2024

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[Expert recommendations for magnetic resonance imaging of muscle disorders].
Rachel Zeng, Sarah Schlaeger, Matthias Türk, Thomas Baum, Marcus Deschauer

Nervenarzt· August 2024

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Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
Julia M Mandler, Johanna Härtl, Isabell Cordts, Marc Sturm, Dennis M Hedderich, Marcus Deschauer

Mult Scler J Exp Transl Clin· July 2024

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A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Amy E Vincent, Chun Chen, Tiago Bernardino Gomes, Valeria Di Leo, Tuomas Laalo, Marcus Deschauer

Biochim Biophys Acta Mol Basis Dis· June 2024

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Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Marcus Deschauer

Nat Commun· June 2024

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5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgartner, Marcus Deschauer

J Neurol· May 2024

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Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
René Günther, Claudia Diana Wurster, Svenja Brakemeier, Alma Osmanovic, Olivia Schreiber-Katz, Marcus Deschauer

Lancet Reg Health Eur· April 2024

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Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
Mohammed Athamneh, Nassam Daya, Andreas Hentschel, Andrea Gangfuss, Tobias Ruck, Marcus Deschauer

J Cell Mol Med· April 2024

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Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
Felix Heinrich, Isabell Cordts, René Günther, Benjamin Stolte, Daniel Zeller, Marcus Deschauer

J Neurol· October 2023

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Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification.
Johanna Härtl, Tobias B Haack, Isabell Cordts, Marcus Deschauer

Ann Neurol· September 2023

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Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen.
Gerrit Machetanz, Marc Grziwotz, Luisa Semmler, Mathias Maier, Christian Maegerlein, Marcus Deschauer

J Neuromuscul Dis· 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, Marcus Deschauer

Brain Commun· May 2023

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Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
Johanna Härtl, Julia Hartberger, Silke Wunderlich, Isabell Cordts, Cemsel Bafligil, Marcus Deschauer

J Neurol· March 2023

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Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis.
Camilla Wohnrade, Ann-Kathrin Velling, Lucas Mix, Claudia D Wurster, Isabell Cordts, Marcus Deschauer

Brain Sci· January 2023

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Reply to: "Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected".
Isabell Cordts, Tobias B Haack, Marcus Deschauer

Mov Disord· November 2022

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