Associated Papers
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Marsh E et al.
Brain : a Journal of Neurology, 2009
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C et al.
Bmc Medical Genetics, 2007
The role of ARX in cortical development.
Friocourt G et al.
The European Journal of Neuroscience, 2006
Genotypically defined lissencephalies show distinct pathologies.
Forman MS et al.
Journal of Neuropathology and Experimental Neurology, 2005
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Bhat SS et al.
American Journal of Medical Genetics. Part A, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M et al.
Human Mutation, 2004
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