Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15.
No abstract available

Keywords: ALS; HMSN (CHARCOT-MARIE-TOOTH); PARKINSON'S DISEASE; SPINAL MUSCULAR ATRO.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Cell Cycle Proteins / genetics
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology
  • Female
  • Heat-Shock Proteins / genetics*
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neural Conduction
  • Nuclear Proteins / genetics
  • Phenotype*
  • Spain

Substances

  • Adaptor Proteins, Signal Transducing
  • Cell Cycle Proteins
  • Heat-Shock Proteins
  • MAD2L1BP protein, human
  • Nuclear Proteins