Heike Kölbel

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen Within the Expanded Access Program in Germany

Abstract: Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts a...

Long Term Follow-up on Pediatric Cases with Congenital Myasthenic Syndromes - a Retrospective Single Centre Cohort Study

Abstract: Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are d...