An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant

J Neuropathol Exp Neurol. 2023 Jul 20;82(8):734-738. doi: 10.1093/jnen/nlad041.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis* / genetics
  • Autopsy
  • DNA Helicases / genetics
  • Heterozygote
  • Humans
  • Multifunctional Enzymes / genetics
  • Mutation / genetics
  • RNA Helicases / genetics

Substances

  • DNA Helicases
  • Multifunctional Enzymes
  • RNA Helicases
  • SETX protein, human

Supplementary concepts

  • Amyotrophic lateral sclerosis 1