Parents

Sign in to add mentor
Marjo S. van der Knaap grad student 2008 VU Amsterdam
 (Megalencephalic Leukoencephalopathy with Subcortical Cysts : from disease gene to protein function)
BETA: Related publications

Publications

You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect.

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
See more...