| Year |
Citation |
Score |
| 2015 |
Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, ... ... Boor I, et al. Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. Annals of Neurology. 77: 114-31. PMID 25382142 DOI: 10.1002/Ana.24307 |
0.57 |
|
| 2013 |
Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I. Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. Brain : a Journal of Neurology. 136: 209-22. PMID 23365098 DOI: 10.1093/brain/aws320 |
0.63 |
|
| 2013 |
Dubey M, Bugiani M, Lodder J, Mansvelder H, Boor I, van der Knaap MS. Astrocytic MLC1 involved in brain water homeostasis and myeline integrity Tijdschrift Voor Kindergeneeskunde. 81: 36-36. DOI: 10.1007/S12456-013-0036-8 |
0.604 |
|
| 2012 |
van der Knaap MS, Boor I, Estévez R. 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. PMID 23079554 DOI: 10.1016/S1474-4422(12)70192-8 |
0.639 |
|
| 2011 |
Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS. Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. Brain : a Journal of Neurology. 134: 3342-54. PMID 22006981 DOI: 10.1093/brain/awr255 |
0.618 |
|
| 2011 |
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, et al. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. Neurobiology of Disease. 43: 228-38. PMID 21440627 DOI: 10.1016/J.Nbd.2011.03.015 |
0.637 |
|
| 2011 |
Boor I. A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). Journal of Human Genetics. 56: 173. PMID 21307857 DOI: 10.1038/jhg.2011.5 |
0.365 |
|
| 2011 |
Bugiani M, Boor I, van Kollenburg B, Postma N, Polder E, van Berkel C, van Kesteren RE, Windrem MS, Hol EM, Scheper GC, Goldman SA, van der Knaap MS. Defective glial maturation in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 70: 69-82. PMID 21157376 DOI: 10.1097/NEN.0b013e318203ae74 |
0.636 |
|
| 2010 |
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: a review. Journal of Neuropathology and Experimental Neurology. 69: 987-96. PMID 20838246 DOI: 10.1097/NEN.0b013e3181f2eafa |
0.608 |
|
| 2008 |
Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics. 17: 3728-39. PMID 18757878 DOI: 10.1093/Hmg/Ddn269 |
0.556 |
|
| 2007 |
Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk JC, van Horssen J, Dinopoulos A, Bove KE, Pascual-Castroviejo I, Muntoni F, Estévez R, Scheper GC, van der Knaap MS. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathologica. 114: 403-10. PMID 17628813 DOI: 10.1007/s00401-007-0247-0 |
0.576 |
|
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