van der Knaap MS - Search Results

1

Vanishing white matter: deregulated integrated stress response as therapy target.

Abbink TEM, Wisse LE, Jaku E, Thiecke MJ, Voltolini-González D, Fritsen H, Bobeldijk S, Ter Braak TJ, Polder E, Postma NL, Bugiani M, Struijs EA, Verheijen M, Straat N, van der Sluis S, Thomas AAM, Molenaar D, van der Knaap MS. Abbink TEM, et al. Among authors: van der sluis s, van der knaap ms. Ann Clin Transl Neurol. 2019 Aug;6(8):1407-1422. doi: 10.1002/acn3.50826. Epub 2019 Jul 18. Ann Clin Transl Neurol. 2019. PMID: 31402619 Free PMC article.

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

Phenotypic variation in leukoencephalopathy with vanishing white matter.

van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. van der Knaap MS, et al. Neurology. 1998 Aug;51(2):540-7. doi: 10.1212/wnl.51.2.540. Neurology. 1998. PMID: 9710032 Clinical Trial.

4

Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.

van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J. van der Knaap MS, et al. Among authors: van raaij selten b. J Child Neurol. 1999 Nov;14(11):728-31. doi: 10.1177/088307389901401108. J Child Neurol. 1999. PMID: 10593550

5

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

6

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

7

[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.

8

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.

9

Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.

Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, Guerrini L, Mascalchi M, Pronk JC, van der Knaap MS, Filippi M. Gallo A, et al. Among authors: van der knaap ms. Neurology. 2004 Jan 27;62(2):323-6. doi: 10.1212/01.wnl.0000103292.72400.b7. Neurology. 2004. PMID: 14745082

10

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

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