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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. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
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: scheper gc. 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.
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: scheper gc. Ann Neurol. 2005 Apr;57(4):560-3. doi: 10.1002/ana.20418. Ann Neurol. 2005. PMID: 15786451
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: scheper gc. J Neuropathol Exp Neurol. 2005 May;64(5):412-9. doi: 10.1093/jnen/64.5.412. J Neuropathol Exp Neurol. 2005. PMID: 15892299
The unfolded protein response in vanishing white matter disease.
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. van der Voorn JP, et al. Among authors: scheper gc. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. doi: 10.1097/01.jnen.0000178446.41595.3a. J Neuropathol Exp Neurol. 2005. PMID: 16141786
Vanishing white matter disease.
van der Knaap MS, Pronk JC, Scheper GC. van der Knaap MS, et al. Among authors: scheper gc. Lancet Neurol. 2006 May;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9. Lancet Neurol. 2006. PMID: 16632312 Review.
90 results