Benedikt Schoser
Friedrich Baur Stiftung(DE)Ludwig-Maximilians-Universität München(DE)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genetic Neurodegenerative Diseases, Glycogen Storage Diseases and Myoclonus, Muscle Physiology and Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Non-ATG–initiated translation directed by microsatellite expansions(2010)907 cited
- → Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis(2011)334 cited
- → Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy(2011)326 cited
- → The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene(2007)318 cited
- → Transplantation of Genetically Corrected Human iPSC-Derived Progenitors in Mice with Limb-Girdle Muscular Dystrophy(2012)287 cited
- → Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial(2009)252 cited