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Vanishing white matter disease.
van der Knaap MS, Pronk JC, Scheper GC. van der Knaap MS, et al. Lancet Neurol. 2006 May;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9. Lancet Neurol. 2006. PMID: 16632312 Review.
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
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
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.
van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J. van der Knaap MS, et al. Among authors: van coster r. AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74. AJNR Am J Neuroradiol. 2002. PMID: 12372733
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: van der voorn p, van coster r. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294
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 berkel cg, van coster r. 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.
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.
Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection.
van der Knaap MS, Vermeulen G, Barkhof F, Hart AA, Loeber JG, Weel JF. van der Knaap MS, et al. Radiology. 2004 Feb;230(2):529-36. doi: 10.1148/radiol.2302021459. Radiology. 2004. PMID: 14752192
The latest on leukodystrophies.
Schiffmann R, van der Knaap MS. Schiffmann R, et al. Among authors: van der knaap ms. Curr Opin Neurol. 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. Curr Opin Neurol. 2004. PMID: 15021247 Review.
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.
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