C. Shoubridge

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (2009)

Shoubridge, C, Antar, C, Nguyen, L S, Kleefstra, T, ...

Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific (Lujan-Fryns and FG syndromes), nonspecific...

Aristaless-related Homeobox Gene, the Gene Responsible for West Syndromenext Term and Related Disorders, is a Groucho/transducin-like Enhancer of Split Dependent Transcriptional Repressor (2007)

McKenzie, O., Ponte, I., Mangelsdorf, M., Finnis, M., Colasante, G., Shoubridge, C., ...

Aristaless-related homeobox gene (ARX) is an important paired-type homeobox gene involved in the development of human brain. The ARX gene mutations are a significant contributor to various forms of...