Associated Papers
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.
Lanciotti A et al.
Neurobiology of Disease, 2026
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
38487253 (PubMed )
Supplement: Table1.pdf
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Mahdieh N et al.
Scientific Reports, 2021
Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
Lanciotti A et al.
Cells, 2020
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Lanciotti A et al.
Human Molecular Genetics, 2016
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A et al.
European Journal of Medical Genetics, 2015
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Petrini S et al.
Molecular and Cellular Neurosciences, 2013
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts.
Kocaman G et al.
Clinical Neurology and Neurosurgery, 2013
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Patrono C et al.
Neurology, 2003
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