1. "Suddenly we have hope that there is a future": two families' narratives when a child with spinal muscular atrophy receives a new drug. Issue 1 (1st January 2021) Authors: Hjorth, Elin; Lövgren, Malin; Kreicbergs, Ulrika; Sejersen, Thomas; Asaba, Eric Journal: International journal of qualitative studies on health and well-being Issue: Volume 16:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A mini‐review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy. (2nd October 2018) Authors: Landfeldt, Erik; Sejersen, Thomas; Tulinius, Már Journal: Acta pædiatrica Issue: Volume 108:Number 2(2019) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A protocol to develop clinical guidelines for inclusion‐body myositis. Issue 4 (22nd February 2016) Authors: Jones, Katherine L.; Sejersen, Thomas; Amato, Anthony A.; Hilton‐Jones, David; Schmidt, Jens; Wallace, Amanda C.; Badrising, Umesh A.; Rose, Michael R. Journal: Muscle & nerve Issue: Volume 53:Issue 4(2016) Page Start: 503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study. (31st December 2022) Authors: Landfeldt, Erik; Zhang, Rongrong; Childs, Anne-Marie; Johannsen, Jessika; O'Rourke, Declan; Sejersen, Thomas; Strautmanis, Jurgis; Schara-Schmidt, Ulrike; Tulinius, Mar; Walter, Maggie C.; Willis, Tracey; Buesch, Katharina Journal: Journal of medical economics Issue: Volume 25:Number 1(2022) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Issue 10101 (23rd September 2017) Authors: McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu... Journal: Lancet Issue: Volume 390:Issue 10101(2017) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved. (February 2019) Authors: Hjorth, Elin; Kreicbergs, Ulrika; Sejersen, Thomas; Jeppesen, Jørgen; Werlauff, Ulla; Rahbek, Jes; Lövgren, Malin Journal: Journal of child neurology Issue: Volume 34:Number 2(2019:Feb.) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy. Issue 9 (17th June 2018) Authors: Kiselev, Artem; Vaz, Raquel; Knyazeva, Anastasia; Khudiakov, Aleksandr; Tarnovskaya, Svetlana; Liu, Jiao; Sergushichev, Alexey; Kazakov, Sergey; Frishman, Dmitrij; Smolina, Natalia; Pervunina, Tatiana; Jorholt, John; Sjoberg, Gunnar; Vershinina, Tatiana; Rudenko, Dmitriy; Arner, Anders; Sejersen,... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. (September 2020) Authors: Kirschner, Janbernd; Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; van der Pol, W. Ludo; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; Ziegler, Andreas; Servais, Laurent; Muntoni, Francesco Journal: European journal of paediatric neurology Issue: Volume 28(2020) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy. Issue 3 (13th January 2020) Authors: Landfeldt, Erik; Lindberg, Christopher; Sejersen, Thomas Journal: Muscle & nerve Issue: Volume 61:Issue 3(2020) Page Start: 363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up. (November 2016) Authors: Lövgren, Malin; Sejersen, Thomas; Kreicbergs, Ulrika Journal: European journal of paediatric neurology Issue: Volume 20:Number 6(2016:Nov.) Page Start: 830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗