Victoria M. James

<i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

Johannes R. Lemke, Rik Hendrickx, Kirsten Geider et al. · Annals of Neurology · 2013 · 209 citations · Full text

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

Marion Pilorge, Coralie Fassier, Hervé Le Corronc et al. · Molecular Psychiatry · 2015 · 111 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Molecular Neuroscience +11

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

Eloisa Carta, Seo‐Kyung Chung, Victoria M. James et al. · Journal of Biological Chemistry · 2012 · 82 citations · Full text

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Victoria M. James, Anna Bode, Seo‐Kyung Chung et al. · Neurobiology of Disease · 2012 · 56 citations · Full text

A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

Cecilio Giménez, Gonzalo Pérez‐Siles, Jaime Martínez de Villarreal et al. · Journal of Biological Chemistry · 2012 · 39 citations · Full text