Publications

Annual Reports

Previous annual reports are available on request.

Scientific Publications

The following articles are available on request.

  • Steiner L, Tscherter A, Henzi B, Branca M, Carda S, Enzmann C, Fluss J, Jacquier D, Neuwirth C, Ripellino P, et al. Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry. Journal of Clinical Medicine. 2024; 13(10):2798. https://doi.org/10.3390/jcm13102798;  
  • Stettner, G. M., Hasselmann, O., Tscherter, A., Galiart, E., Jacquier, D., & Klein, A. (2023). Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study. BMC neurology, 23(1), 88. https://doi.org/10.1186/s12883-023-03133-6 Summary: News
  • Henzi, B. C., Baumann, D., Erni, S. J., Lötscher, N., Tscherter, A., Klein, A., & Swiss-Reg-NMD Group (2023). Effects of the COVID-19 Pandemic on Access to Education and Social Participation in Children and Adolescents with Duchenne Muscular Dystrophy in Switzerland. Neuropediatrics, 54(4), 287–291. https://doi.org/10.1055/s-0043-1764434 Summary: News
  • Gruebner, O., van Haasteren, A., Hug, A., Elayan, S., Sykora, M., Albanese, E., Stettner, G. M., Waldboth, V., Messmer-Khosla, S., Enzmann, C., Baumann, D., von Wyl, V., Fadda, M., Wolf, M., & von Rhein, M. (2023). Mental health challenges and digital platform opportunities in patients and families affected by pediatric neuromuscular diseases – experiences from Switzerland. Digital health, 9, 20552076231213700. https://doi.org/10.1177/20552076231213700
  • Tscherter, A., Rüsch, C. T., Baumann, D., Enzmann, C., Hasselmann, O., Jacquier, D., Jung, H. H., Kruijshaar, M. E., Kuehni, C. E., Neuwirth, C., Stettner, G. M., Klein, A., & Swiss-Reg-NMD group (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular disorders : NMD, 32(5), 399–409. https://doi.org/10.1016/j.nmd.2022.02.001 Summary: News
  • Koeks, Z., Bladen, C. L., Salgado, D., van Zwet, E., Pogoryelova, O., McMacken, G., Monges, S., Foncuberta, M. E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Bellgard, M. I., Roy, A. J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., … Lochmüller, H. (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), 293–306. https://doi.org/10.3233/JND-170280
  • Bladen, C. L., Thompson, R., Jackson, J. M., Garland, C., Wegel, C., Ambrosini, A., Pisano, P., Walter, M. C., Schreiber, O., Lusakowska, A., Jedrzejowska, M., Kostera-Pruszczyk, A., van der Pol, L., Wadman, R. I., Gredal, O., Karaduman, A., Topaloglu, H., Yilmaz, O., Matyushenko, V., Rasic, V. M., … Lochmüller, H. (2014). Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. Journal of neurology, 261(1), 152–163. https://doi.org/10.1007/s00415-013-7154-1