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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. Among authors: van kollenburg b, van der knaap ms. 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.
A new leukoencephalopathy with vanishing white matter.
van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. van der Knaap MS, et al. Neurology. 1997 Apr;48(4):845-55. doi: 10.1212/wnl.48.4.845. Neurology. 1997. PMID: 9109866 Free article.
White matter disorders.
Valk J, van der Knaap MS. Valk J, et al. Among authors: van der knaap ms. Curr Opin Neurol Neurosurg. 1991 Dec;4(6):843-51. Curr Opin Neurol Neurosurg. 1991. PMID: 10146206 Review.
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.
Magnetic resonance in childhood white-matter disorders.
van der Knaap MS. van der Knaap MS. Dev Med Child Neurol. 2001 Oct;43(10):705-12. doi: 10.1017/s001216220100127x. Dev Med Child Neurol. 2001. PMID: 11665829 Free article. Review. No abstract available.
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: van berkel cg, van der knaap ms. Nat Genet. 2001 Dec;29(4):383-8. doi: 10.1038/ng764. Nat Genet. 2001. PMID: 11704758
463 results