Articles with "polyalanine expansion" as a keyword



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ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons

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Published in 2017 at "Neuroscience"

DOI: 10.1016/j.neuroscience.2017.06.010

Abstract: The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of varying severity, with seizures a… read more here.

Keywords: polyalanine expansion; migration; expansion mutations; arx polyalanine ... See more keywords