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[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].

Evgenii NuzhnyiA O ProtopopovaNatalia Y AbramychevaA R ProtsenkoSergey Nikolaevich Illarioshkin
Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2024)
. The phenotype of these ataxias is nonspecific, so the method of choice for molecular diagnostics is massive parallel sequencing.
Keyphrases
  • genome wide
  • single cell
  • intellectual disability
  • early onset
  • single molecule
  • gene expression
  • decision making
  • autism spectrum disorder