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  • Miriam Elbracht, Jan Senderek, +7 authors Sabine Rudnik-Schoeneborn
  • Medicine
  • Clinical neuropathology
  • 1 September 2014
  • Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy (CMT2E). The mutation c.1186G>A, p.E396K has been reported in sevenContinue Reading
  • Kay Wilhelm Nolte, Andreas R Janecke, Matthias Vorgerd, Joachim Weis, J. M. Schröder
  • Biology, Medicine
  • Acta Neuropathologica
  • 1 November 2008
  • A diagnosis of GSD-IV was established in three premature, floppy infants based on characteristic, however unusually pleomorphic polyglucosan bodies at the electron microscopic level, glycogenContinue Reading