Nervous System Malformations

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  Subject Areas on Research

  • A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin. 
  • Brain anomalies in children exposed prenatally to a common organophosphate pesticide. 
  • CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. 
  • Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 
  • Disulfide-mediated dimerization of L1 Ig domains. 
  • Fragile X syndrome: a review of associated medical problems. 
  • Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. 
  • Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons. 
  • Septo-optic dysplasia with olfactory tract and bulb hypoplasia. 
  • The cardiofaciocutaneous syndrome. 
  • Zika in the Americas, year 2: What have we learned? What gaps remain? A report from the Global Virus Network. 
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  Keywords of People

  • Bennett, Vann, George B. Geller Distinguished Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Erickson, Harold Paul, James B. Duke Distinguished Professor of Cell Biology, Biomedical Engineering