Publikationen
- Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial (Schartz O et al, JAMA Pediatr, 2024)
- 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 (Vill K et al., Journal of Neurology, 2024)
- Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study (Günther R et al., The Lancet Regional Health, 2024)
- Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany (Müller-Felber W et al., Journal of Neuromuscular Diseases, 2023)
- Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study (Pechmann A et al., Journal of Neuromuscular Diseases, 2023)
- Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study (Pechmann A et al., Orphanet Journal of Rare Diseases, 2022)
- Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy (Pechmann A et al., Brain, 2022)
- Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy (Schorling D et al., European journal of neurology, 2022)
- Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study (Weiß C et al., The Lancet Child & Adolescent Health, 2022)
- Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care (Schorling D et al., Journal of Neuromuscular Diseases, 2020)
- Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec - AVXS-101 (Ziegler A et al., Der Nervenarzt, 2020)
- Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1 (Pechmann A et al., Journal of neuromuscular diseases, 2020)
- Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie (Kirschner J et al., Monatsschrift Kinderheilkunde, 2020)
- Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study (Hagenacker T et al., The Lancet. Neurology, 2020)
- Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study (Walter M et al., Journal of Neuromuscular Diseases, 2019)
- SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy (Pechmann A et al., Orphanet Journal of Rare Diseases, 2019)
- Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany (Pechmann A et al., Journal of Neuromuscular Diseases, 2018)
- Therapie der 5q-assoziierten Spinalen Muskelatrophie mit Nusinersen – erste Erfahrungen (Giese K et al., Neuropädiatrie in Klinik und Praxis, 2018, Max Schmidt-Römhild GmbH & Co. KG)
- Internationaler Konsensus zur Therapie der SMA (Neuromuscular Disorders 2018): Part 1
- Internationaler Konsensus zur Therapie der SMA (Neuromuscular Disorders 2018): Part 2