Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel mutation in GLRB in a large family with hereditary hyperekplexia

(2011) M Al-Owain et al.   CLINICAL GENETICS

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

(2010) Andreas Tzschach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome

(2010) Tahir Mehmood et al.   HUMAN GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Stress hormones and AMPA receptor trafficking in synaptic plasticity and memory

(2010) Harmen J. Krugers et al.   NATURE REVIEWS NEUROSCIENCE

AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation

(2009) C. Bonnet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

(2009) Hajime Matsuzaki et al.   GENOME BIOLOGY