Associated Papers
Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts.
Chen X et al.
Frontiers in Neurology, 2023
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.
Masuda T et al.
Journal of the Neurological Sciences, 2015
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis.
Koyama S et al.
Internal Medicine (tokyo, Japan), 2012
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.
Saijo H et al.
Brain & Development, 2003
A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
Tsujino S et al.
Journal of Human Genetics, 2003
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
American Journal of Human Genetics, 2001
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