van der Knaap MS - Search Results

1

Defective translation initiation causes vanishing of cerebral white matter.

Scheper GC, Proud CG, van der Knaap MS. Scheper GC, et al. Among authors: van der knaap ms. Trends Mol Med. 2006 Apr;12(4):159-66. doi: 10.1016/j.molmed.2006.02.006. Epub 2006 Mar 20. Trends Mol Med. 2006. PMID: 16545608 Review.

2

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.

3

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

4

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. Ann Neurol. 2002 Feb;51(2):264-70. doi: 10.1002/ana.10112. Ann Neurol. 2002. PMID: 11835386

5

[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].

Pronk JC, Leegwater PA, van der Knaap MS. Pronk JC, et al. Among authors: van der knaap ms. Ned Tijdschr Geneeskd. 2002 Oct 12;146(41):1933-6. Ned Tijdschr Geneeskd. 2002. PMID: 12404908 Dutch.

6

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.

7

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: van der knaap ms. J Child Neurol. 2003 Sep;18(9):639-45. doi: 10.1177/08830738030180091101. J Child Neurol. 2003. PMID: 14572143 Review.

8

Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

Li W, Wang X, Van Der Knaap MS, Proud CG. Li W, et al. Among authors: van der knaap ms. Mol Cell Biol. 2004 Apr;24(8):3295-306. doi: 10.1128/MCB.24.8.3295-3306.2004. Mol Cell Biol. 2004. PMID: 15060152 Free PMC article.

9

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.

van der Knaap MS, Leegwater PA, van Berkel CG, Brenner C, Storey E, Di Rocco M, Salvi F, Pronk JC. van der Knaap MS, et al. Among authors: van berkel cg. Neurology. 2004 May 11;62(9):1598-600. doi: 10.1212/01.wnl.0000123118.86746.fc. Neurology. 2004. PMID: 15136689

10

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

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