Shimura M et al.
Orphanet Journal of Rare Diseases, 2020
Rahman S et al.
Nature Reviews. Neurology, 2019
Montassir H et al.
Brain & Development, 2015
Yamazaki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Tang S et al.
Journal of Medical Genetics, 2011