MECHANISMS OF DISEASE IN THE HYPEREKPLEXIASJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52014-09-090OAAI
Ethnicity can predict GLRA1 genotypes in hyperekplexiaJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52014-06-2611PREAI
New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation MechanismsJOURNAL OF BIOLOGICAL CHEMISTRYIF3.92013-11-0140OAAI
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delayBRAINIF11.72013-09-1174OAAI
GLRB is the third major gene of effect in hyperekplexia (vol 22, pg 927, 2013)HUMAN MOLECULAR GENETICSIF3.22013-04-091OAAI