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Page 1
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
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. Duarri A, et al. Among authors: boor i. Hum Mol Genet. 2008 Dec 1;17(23):3728-39. doi: 10.1093/hmg/ddn269. Epub 2008 Aug 30. Hum Mol Genet. 2008. PMID: 18757878 Free PMC article.
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
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, Estévez R. Duarri A, et al. Among authors: boor i. Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3. Neurobiol Dis. 2011. PMID: 21440627 Free PMC article.
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
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. Boor I, et al. Acta Neuropathol. 2007 Oct;114(4):403-10. doi: 10.1007/s00401-007-0247-0. Epub 2007 Jul 13. Acta Neuropathol. 2007. PMID: 17628813 Free PMC article.
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
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, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS. Dubey M, et al. Among authors: boor i. Ann Neurol. 2015 Jan;77(1):114-31. doi: 10.1002/ana.24307. Epub 2014 Dec 4. Ann Neurol. 2015. PMID: 25382142
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Bugiani M, et al. Among authors: boor i. J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. J Neuropathol Exp Neurol. 2010. PMID: 20838246 Review.
Defective glial maturation in vanishing white matter disease.
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. Bugiani M, et al. Among authors: boor i. J Neuropathol Exp Neurol. 2011 Jan;70(1):69-82. doi: 10.1097/NEN.0b013e318203ae74. J Neuropathol Exp Neurol. 2011. PMID: 21157376 Free PMC article.
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