Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation

Mov Disord. 2011 Aug 15;26(10):1964-6. doi: 10.1002/mds.23749. Epub 2011 May 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Genetic Association Studies
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Phenotype
  • Phenylalanine / genetics
  • Progranulins
  • Supranuclear Palsy, Progressive / diagnosis
  • Supranuclear Palsy, Progressive / genetics*
  • Threonine / genetics

Substances

  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins
  • Threonine
  • Phenylalanine