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Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Saana MönkäreLiina KuuluvainenJohanna SchleutkerLiisa MyllykangasMinna Pöyhönen
Published in: Acta neurologica Scandinavica (2022)
This study revealed the genetic and clinical spectrum of CADASIL in the Finnish population. Sequencing of the whole NOTCH3 gene performing a gene-panel or exome sequencing is recommended when suspecting CADASIL.
Keyphrases
  • copy number
  • genome wide
  • single cell
  • cell proliferation
  • dna methylation
  • subarachnoid hemorrhage
  • genome wide identification
  • brain injury
  • transcription factor
  • multiple sclerosis
  • genome wide analysis