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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: van der knaap ms. 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.
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: van der steen j, van der maarel sm, van der knaap ms. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC. van der Knaap MS, et al. Among authors: van coster r, van berkel cg. Am J Hum Genet. 2003 Nov;73(5):1199-207. doi: 10.1086/379524. Epub 2003 Oct 17. Am J Hum Genet. 2003. PMID: 14566705 Free PMC article.
Fright is a provoking factor in vanishing white matter disease.
Vermeulen G, Seidl R, Mercimek-Mahmutoglu S, Rotteveel JJ, Scheper GC, van der Knaap MS. Vermeulen G, et al. Among authors: van der knaap ms. Ann Neurol. 2005 Apr;57(4):560-3. doi: 10.1002/ana.20418. Ann Neurol. 2005. PMID: 15786451
MLC1: a novel protein in distal astroglial processes.
Boor PK, de Groot K, Waisfisz Q, Kamphorst W, Oudejans CB, Powers JM, Pronk JC, Scheper GC, van der Knaap MS. Boor PK, et al. Among authors: van der knaap ms. J Neuropathol Exp Neurol. 2005 May;64(5):412-9. doi: 10.1093/jnen/64.5.412. J Neuropathol Exp Neurol. 2005. PMID: 15892299
The unfolded protein response in vanishing white matter disease.
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. van der Voorn JP, et al. Among authors: van kollenburg b, van der knaap ms, van haren k. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. doi: 10.1097/01.jnen.0000178446.41595.3a. J Neuropathol Exp Neurol. 2005. PMID: 16141786
Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.
van Kollenburg B, Thomas AA, Vermeulen G, Bertrand GA, van Berkel CG, Pronk JC, Proud CG, van der Knaap MS, Scheper GC. van Kollenburg B, et al. Among authors: van berkel cg, van der knaap ms. Neurobiol Dis. 2006 Mar;21(3):496-504. doi: 10.1016/j.nbd.2005.08.009. Epub 2005 Sep 26. Neurobiol Dis. 2006. PMID: 16185887
474 results