Projects per year
Organisation profile
Fields of science
- 302035 Paediatrics and adolescent medicine
Profiles
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EpiC-Register: Register zur prächirurgischen Epilepsiediagnostik und Epilepsiechirurgie
Gröppel, G. (Researcher) & Auer, C. (Researcher)
08.12.2025 → 07.12.2028
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
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ATTUNE: A Phase 1-2, Double-Blind, Sham-Controlled Multiple Ascending Dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Patients with MECP2 Duplication Syndrome
Gröppel, G. (Researcher)
14.11.2025 → 13.11.2029
Project: Contract research › Industry project
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Versorgungssituation und Bedürfnisse von Patienten mit neuromuskulären Erkrankungen und deren Betreuungspersonen in Österreich
Gerich, J. (PI), Beham-Rabanser, M. (Researcher), Wegscheider, A. (Researcher), Schaur, M. (Researcher), Pühringer, M. (Co-PI) & Eisenkölbl, A. (Researcher)
04.11.2025 → 04.12.2027
Project: Contract research › Other contract research
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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Montero-Lopez, R., Farman, M. R., Högler, F., Rehder, C., Malli, T., Webersinke, G., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., Del Angel, G., Nading, E. B., Huggins, E., Rush, E. T., Tauer, J. T., Kishnani, P. S. & Högler, W., 01 Mar 2026, In: Journal of Bone and Mineral Research. 41, 3, p. 259-269 11 p., zjaf124.Research output: Contribution to journal › Article › peer-review
Open Access -
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review
Eisenkölbl, A., Lochmüller, H., Carter, M. T., Hamilton, L. E. & McMillan, H. J., Jul 2026, In: Journal of Neuromuscular Diseases. 13, 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence
Weiß, C., Vill, K., Baumann, M., Bernert, G., Blaschek, A., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Ganter, C., Goldhahn, K., Hahn, A., von der Hagen, M., Hartmann, H., Hasselmann, O., Horber, V., Husain, R. A., Illsinger, S., Jacquier, D., Johannsen, J. & Köhler, C. & 20 others, , May 2026, In: Journal of Neuromuscular Diseases. 13, 3, p. 420-435 16 p.Research output: Contribution to journal › Review article › peer-review
Open Access
Activities
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Translational Strategies to Accelerate Bone Regeneration in Osteogenesis Imperfecta
Tauer, J. T. (Speaker)
23 Apr 2026Activity: Talk or presentation › Invited talk › science-to-science
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Medizinische Gesellschaft für Oberösterreich (External organisation)
Ebetsberger-Dachs, G. (Member)
2026Activity: Membership/Function › Scientific society
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Grenzen und Perspektiven
Gröppel, G. (Speaker)
13 Dec 2025Activity: Talk or presentation › Other talk or presentation › science-to-science
Prizes
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Harold M. Frost Young Investigator Award
Tauer, J. T. (Recipient), 23 Jul 2025
Prize: Prize, award or honor