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Marjo S. van der Knaap grad student 2008 VU Amsterdam
 (Megalencephalic Leukoencephalopathy with Subcortical Cysts : from disease gene to protein function)
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Dubey M, Bugiani M, Ridder MC, et al. (2015) Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. Annals of Neurology. 77: 114-31
Bugiani M, Postma N, Polder E, et al. (2013) Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. Brain : a Journal of Neurology. 136: 209-22
van der Knaap MS, Boor I, Estévez R. (2012) Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. The Lancet. Neurology. 11: 973-85
Ridder MC, Boor I, Lodder JC, et al. (2011) Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. Brain : a Journal of Neurology. 134: 3342-54
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, et al. (2011) Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. Neurobiology of Disease. 43: 228-38
Boor I. (2011) A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). Journal of Human Genetics. 56: 173
Bugiani M, Boor I, van Kollenburg B, et al. (2011) Defective glial maturation in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 70: 69-82
Bugiani M, Boor I, Powers JM, et al. (2010) Leukoencephalopathy with vanishing white matter: a review. Journal of Neuropathology and Experimental Neurology. 69: 987-96
Duarri A, Teijido O, López-Hernández T, et al. (2008) Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics. 17: 3728-39
Boor I, Nagtegaal M, Kamphorst W, et al. (2007) MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathologica. 114: 403-10
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