The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations

J Med Genet. 2017 Feb;54(2):114-124. doi: 10.1136/jmedgenet-2016-104148. Epub 2016 Nov 3.
No abstract available

Keywords: STUB1; action language; functional connectivity; gene-atrophy; voxel-based morphometry.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia / diagnosis*
  • Ataxia / genetics*
  • Ataxia / physiopathology
  • Atrophy
  • Cerebellum / metabolism*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Cognition
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Motor Activity
  • Mutation*
  • Neuroimaging
  • Semantics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • STUB1 protein, human
  • Ubiquitin-Protein Ligases