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Page 1
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H. Bladen CL, et al. Among authors: sejersen t. J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27. J Neurol. 2014. PMID: 24162038
Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Sukhareva KS, Smolina NA, Churkina AI, Kalugina KK, Zhuk SV, Khudiakov AA, Khodot AA, Faggian G, Luciani GB, Sejersen T, Kostareva AA. Sukhareva KS, et al. Among authors: sejersen t. Cell Tissue Res. 2023 Aug;393(2):357-375. doi: 10.1007/s00441-023-03790-6. Epub 2023 Jun 6. Cell Tissue Res. 2023. PMID: 37277577 Free PMC article.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.
McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. McCormack P, et al. Among authors: sejersen t. PLoS Curr. 2013 Jan 10;5:ecurrents.md.f90b49429fa814bd26c5b22b13d773ec. doi: 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec. PLoS Curr. 2013. PMID: 23330068 Free PMC article.
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.
Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano EF, Ziegler A, Servais L, Muntoni F. Kirschner J, et al. Among authors: sejersen t. Eur J Paediatr Neurol. 2020 Sep;28:38-43. doi: 10.1016/j.ejpn.2020.07.001. Epub 2020 Jul 9. Eur J Paediatr Neurol. 2020. PMID: 32763124 Free PMC article.
Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.
Landfeldt E, Pechmann A, McMillan HJ, Lochmüller H, Sejersen T. Landfeldt E, et al. Among authors: sejersen t. Appl Health Econ Health Policy. 2021 Jul;19(4):501-520. doi: 10.1007/s40258-020-00624-2. Epub 2021 Feb 12. Appl Health Econ Health Policy. 2021. PMID: 33576939 Free PMC article.
Response to letter: A decision for life - Treatment decisions in newly diagnosed families with spinal muscular atrophy.
Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano EF, Ziegler A, Servais L, Muntoni F. Kirschner J, et al. Among authors: sejersen t. Eur J Paediatr Neurol. 2021 Jan;30:103-104. doi: 10.1016/j.ejpn.2020.12.005. Epub 2020 Dec 14. Eur J Paediatr Neurol. 2021. PMID: 33640649 No abstract available.
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.
Schroth M, Deans J, Arya K, Castro D, De Vivo DC, Gibbons MA, Ionita C, Kuntz NL, Lakhotia A, Neil Knierbein E, Scoto M, Sejersen T, Servais L, Tian C, Waldrop MA, Vázquez-Costa JF. Schroth M, et al. Among authors: sejersen t. Neurol Clin Pract. 2024 Aug;14(4):e200310. doi: 10.1212/CPJ.0000000000200310. Epub 2024 May 24. Neurol Clin Pract. 2024. PMID: 38915908 Free PMC article.
138 results