All Stories

  1. Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations
  2. AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
  3. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization
  4. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease