Ilja Boor
Affiliations: | Vrije Universiteit Amsterdam, Amsterdam, Netherlands |
Area:
NeurogenomicsWebsite:
http://cncr.nl/people/staff_a-b/boor_pkiGoogle:
"Ilja Boor"Bio:
https://nl.linkedin.com/pub/ilja-boor/1/399/952
http://www.vumc.com/branch/Children-White-Matter-Disorders/news1/1529917/
http://dspace.ubvu.vu.nl/bitstream/handle/1871/12900/7696.pdf;jsessionid=ED52EA671166AFF786A0AF9BAB73365C?sequence=5
Mean distance: 18.41 (cluster 44) | S | N | B | C | P |
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) | ||||
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Publications
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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 |
| Dubey M, Bugiani M, Lodder J, et al. (2013) Astrocytic MLC1 involved in brain water homeostasis and myeline integrity Tijdschrift Voor Kindergeneeskunde. 81: 36-36 |
| 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 |