A. Robinson

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

M. Topf, R. Shiang, A. Manzur, 2012, The Journal of Biological Chemistry.

Loss of imprinting of insulin growth factor II gene: a potential heritable biomarker for colon neoplasia predisposition.

A. Feinberg, N. Powe, H. Cui, 2004, Gastroenterology.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

F. Andermann, R. Shiang, E. Andermann, 2010, The Journal of Neuroscience.

Frontiers in Molecular Neuroscience Molecular Neuroscience Review Article

R. Thomas, R. Harvey, J. Mullins, 2022 .

PATH40 Spectrum of clinical disease in hyperekplexia: the genotypes and phenotypes of 48 cases

R. Thomas, M. Rees, A. Robinson, 2010, Journal of Neurology Neurosurgery & Psychiatry.

The Glycinergic System in Human Startle Disease: A Genetic Screening Approach

R. Thomas, R. Harvey, J. Mullins, 2009, Frontiers in Molecular Neuroscience.