Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth

(2012) T. Ishikawa et al.   NEUROSCIENCE

Bioenergy sensing in the brain

(2011) Stephen Amato et al.   CELL CYCLE

Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met

(2011) Gordon MG Shepherd et al.   CURRENT OPINION IN NEUROBIOLOGY

AMP-Activated Protein Kinase Regulates Neuronal Polarization by Interfering with PI 3-Kinase Localization

(2011) S. Amato et al.   SCIENCE

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation

(2009) Vincent Cantagrel et al.   GENE EXPRESSION PATTERNS

Balanced translocations in mental retardation

(2009) Geert Vandeweyer et al.   HUMAN GENETICS

X-linked mental retardation: focus on synaptic function and plasticity

(2009) Yann Humeau et al.   JOURNAL OF NEUROCHEMISTRY

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism

(2009) Christopher A. Chapleau et al.   Journal of Neurodevelopmental Disorders

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

Homeostatic regulation of AMPA receptor expression at single hippocampal synapses

(2008) Q. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The construct validity of the Griffiths Scales of Mental Development

(2003) D M Luiz et al.   CHILD CARE HEALTH AND DEVELOPMENT