Schoser, Benedikt Gustav Heinrich

Top Publications

Top Publications Authored or Co-Authored by "Schoser, Benedikt Gustav Heinrich"

• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease

  Orphanet Journal of Rare Diseases, Volume 13, No. 1, Article 155, Year 2018, Citations 39
• Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

  Genetics in Medicine, Volume 21, No. 11, Year 2019, Citations 36
• Home infusion therapy for Pompe disease: Recommendations for German-speaking countries; [Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum]

  Fortschritte der Neurologie Psychiatrie, Volume 89, No. 12, Year 2021