Learn More
This article evaluates the case of an 11-year-old male with congenital agenesis of the corpus callosum, against Rourke's NLD models. A comprehensive neuropsychological assessment was completed, and impairments with attention, movement, fine motor and sensory perception, visuo-spatial organization, and verbal memory were identified. Additionally, a(More)
The nucleobase-ascorbate transporter (NAT) signature motif is a conserved sequence motif of the ubiquitous NAT/NCS2 family implicated in defining the function and selectivity of purine translocation pathway in the major fungal homolog UapA. To analyze the role of NAT motif more systematically, we employed Cys-scanning mutagenesis of the Escherichia coli(More)
The need for a cultural formulation in the healthcare setting is demonstrated. A process is delineated for assessing the ethnically-diverse patient. A sensitive assessment provides recognition of how the patient's cultural roots affect their healing process. Cooperation and compliance to the advice given by healthcare professionals may be enhanced by(More)
In a previous study [Coon et al., Am J Hum Genet 52:1234-1249, 1993], we found suggestive evidence of linkage between manic-depressive illness (MDI) in eight multiplex pedigrees and D5S62, a DNA marker mapping to the telomeric region of 5q. As the D1 dopamine receptor gene (DRD1) maps to this region and as alterations in dopaminergic neurotransmission have(More)
  • 1