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Vanishing white matter disease.
van der Knaap MS, Pronk JC, Scheper GC. van der Knaap MS, et al. Among authors: pronk jc. Lancet Neurol. 2006 May;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9. Lancet Neurol. 2006. PMID: 16632312 Review.
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. Among authors: pronk jc. 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.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Scheper GC, et al. Among authors: pronk jc. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS. Pronk JC, et al. Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. doi: 10.1002/mrdd.20104. Ment Retard Dev Disabil Res Rev. 2006. PMID: 16807905 Review.
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC. Ilja Boor PK, et al. Among authors: pronk jc. Hum Mutat. 2006 Jun;27(6):505-12. doi: 10.1002/humu.20332. Hum Mutat. 2006. PMID: 16652334
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: pronk jc. 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
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: pronk jc. J Neuropathol Exp Neurol. 2005 May;64(5):412-9. doi: 10.1093/jnen/64.5.412. J Neuropathol Exp Neurol. 2005. PMID: 15892299
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: pronk jc. J Child Neurol. 2003 Sep;18(9):639-45. doi: 10.1177/08830738030180091101. J Child Neurol. 2003. PMID: 14572143 Review.
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC. van der Knaap MS, et al. Among authors: pronk jc. Ann Neurol. 2002 Feb;51(2):264-70. doi: 10.1002/ana.10112. Ann Neurol. 2002. PMID: 11835386
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: pronk jc. 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.
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