[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia]

Med Sci (Paris). 2007 Mar;23(3):261-2. doi: 10.1051/medsci/2007233261.
[Article in French]
No abstract available

Publication types

  • News

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Cerebellar Ataxia / classification
  • Cerebellar Ataxia / ethnology
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Chromosomes, Human, Pair 6 / genetics
  • Cytoskeletal Proteins
  • Dysarthria / ethnology
  • Dysarthria / genetics
  • Female
  • France / ethnology
  • Genes, Recessive*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / deficiency
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology
  • Protein Structure, Tertiary
  • Quebec / epidemiology

Substances

  • Cytoskeletal Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • SYNE1 protein, human