Klinik für Neuropädiatrie und Muskelerkrankungen

Recent papers from Klinik für Neuropädiatrie und Muskelerkrankungen

1. The state of prospective genomic newborn screening: implications for a national implementation strategyMedizinische Genetik · 2026
2. Results of a Phase II Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3- to 25-Year-Old Spinal Muscular Atrophy PatientsNeuropediatrics · 2014
3. L ‐2‐Hydroxyglutaric aciduria: Identification of ten novel mutations in theL2HGDHgeneJournal of Inherited Metabolic Disease · 2008
4. Identification of seven novel mutations in theGAN geneHuman Mutation · 2003
5. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa‐responsive dystoniaAnnals of Neurology · 1998
6. Cerebrospinal Fluid Investigations for Neurometabolic DisordersNeuropediatrics · 1998
7. Creatine kinase* isoenzyme patterns in Duchenne muscular dystrophyClinical Genetics · 1978