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Dr. Martin Smitka
Person

Affiliations

Department of Paediatrics, Division of Neuropediatrics
- Academic Staff
Department of Paediatrics
- Academic Staff

Identification Numbers

Scopus author ID	25822730800

Related content

Research output
Activities

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

SMArtCARE and Swiss-Reg-NMD study group, Dec 2024, In: The Lancet Regional Health - Europe. 47, 101092.

Research output: Contribution to journal › Research article › Contributed › peer-review

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Schwartz, O., Vill, K., Pfaffenlehner, M., Behrens, M., Weiß, C., Johannsen, J., Friese, J., & 34 othersHahn, A., Ziegler, A., Illsinger, S., Smitka, M., Von Moers, A., Kölbel, H., Schreiber, G., Kaiser, N., Wilichowski, E., Flotats-Bastardas, M., Husain, R. A., Baumann, M., Köhler, C., Trollmann, R., Schwerin-Nagel, A., Eisenkölbl, A., Schimmel, M., Fleger, M., Kauffmann, B., Wiegand, G., Baumgartner, M., Rauscher, C., Cirak, S., Gläser, D., Bernert, G., Hagenacker, T., Goldbach, S., Probst-Schendzielorz, K., Lochmüller, H., Müller-Felber, W., Schara-Schmidt, U., Walter, M. C., Kirschner, J. & Pechmann, A., 3 Jun 2024, In: JAMA pediatrics. 178, 6, p. 540-547 8 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

SMArtCARE study group, Günther, R. & Smitka, M., May 2024, In: Journal of neurology. 271, 5, p. 2787-2797 11 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Olfactory function after mild traumatic brain injury in children—a longitudinal case control study

Gellrich, J., Zickmüller, C., Thieme, T., Karpinski, C., Fitze, G., Smitka, M., von der Hagen, M., & 1 othersSchriever, V. A., 1 Apr 2024, In: Cerebral cortex. 34, 4, bhae162.

Research output: Contribution to journal › Research article › Contributed › peer-review

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

Pfrimmer, C., Smitka, M., Muschol, N., Husain, R. A., Huemer, M., Hennermann, J. B., Schuler, R., & 1 othersHahn, A., 27 Nov 2023, (E-pub ahead of print) In: Journal of neuromuscular diseases. 11, 1, p. 167-177 11 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

View all research output (39)

Effects of Janus Kinase Inhibition in Two Children with Aicardi-Goutières Syndrome

Tüngler, V. (Speaker), König, N. (Speaker), Engel, K. (Speaker), Smitka, M. (Speaker), Ungerath, K. (Speaker), Hagen, M. (Speaker), Berner, R. (Speaker), Lee-Kirsch, M. A. (Speaker)

2017

Activity: Talk or presentation at external institutions/events › Talk/Presentation › Contributed

View all activities (1)