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Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 17, 2009
The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsyFlorian Heinen, Kaat Desloovere, A Sebastian Schroeder, et al.Journal of Neuromuscular Diseases|December 24, 2022
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry StudyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.The Lancet Regional Health. Europe|February 16, 2024
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational studyRené Günther, Claudia Diana Wurster, Svenja Brakemeier, et al.Pageof 4