Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Dive into the research topics where Marcus Deschauer is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy
Riedel, E. O., Gmeiner, V., Haack, T. B., Kirschke, J. S. & Deschauer, M., 2026, (Accepted/In press) In: Clinical Neuroradiology.Research output: Contribution to journal › Letter › peer-review
Open Access -
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Solve-RD consortium, Dec 2026, In: Nature Communications. 17, 1, 1698.Research output: Contribution to journal › Article › peer-review
Open Access -
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Y.SznajerYvesJr.Solve-RD consortium, Jun 2026, In: Genetics in Medicine. 28, 6, 101649.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
The Diverse Neuromuscular Spectrum of VPS13A Disease
Buchberger, A., Riedel, E., Hackenberg, M., Mensch, A., Beck-Woedl, S., Park, J., Haack, T. B., Haslinger, B., Kirschke, J., Prokisch, H., Hermann, A., Mawrin, C., Danek, A., Schoser, B., Peikert, K., Deschauer, M. & Cordts, I., Jan 2026, In: Annals of Clinical and Translational Neurology. 13, 1, p. 157-169 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study
Bjelica, B., Wohnrade, C., Osmanovic, A., Schreiber-Katz, O., Koerner, S., Kollewe, K., Haeckl, S., Freigang, M., Cordts, I., Becker, B., Vogt, C., Muhandes, M. T., Günther, R., Deschauer, M., Koch, J. C., Tuerk, M., Regensburger, M., Neuwirth, C. & Petri, S., Nov 2025, In: European Journal of Neurology. 32, 11, e70405.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations