11 results on '"James, Victoria M."'
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2. Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease
3. Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses
4. Missense mutation R338W in ARHGEF9 in a family with X-linked intellectual disability with variable macrocephaly and macro-orchidism
5. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family
6. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family
7. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family
8. Distinct phenotypes in zebrafish models of human startle disease
9. Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease
10. Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
11. A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2
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