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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.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC. van Berge L, et al. Among authors: scheper gc. Biochem J. 2012 Feb 1;441(3):955-62. doi: 10.1042/BJ20110795. Biochem J. 2012. PMID: 22023289
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group. van Berge L, et al. Among authors: scheper gc. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Liu R, van der Lei HD, Wang X, Wortham NC, Tang H, van Berkel CG, Mufunde TA, Huang W, van der Knaap MS, Scheper GC, Proud CG. Liu R, et al. Among authors: scheper gc. Hum Mutat. 2011 Sep;32(9):1036-45. doi: 10.1002/humu.21535. Hum Mutat. 2011. PMID: 21560189
The ovarioleukodystrophy.
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP. Mathis S, et al. Among authors: scheper gc. Clin Neurol Neurosurg. 2008 Dec;110(10):1035-7. doi: 10.1016/j.clineuro.2008.06.002. Epub 2008 Aug 3. Clin Neurol Neurosurg. 2008. PMID: 18678442
Vanishing white matter disease: the first reported chinese patient.
Wong SS, Luk DC, Wong VC, Scheper GC, van der Knaap MS. Wong SS, et al. Among authors: scheper gc. J Child Neurol. 2008 Jun;23(6):710-4. doi: 10.1177/0883073808314154. J Child Neurol. 2008. PMID: 18539998
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K. Mierzewska H, et al. Among authors: scheper gc. Folia Neuropathol. 2006;44(2):144-8. Folia Neuropathol. 2006. PMID: 16823698
Non-eIF2B-related cystic leukoencephalopathy of unknown origin.
van der Knaap MS, Scheper GC. van der Knaap MS, et al. Among authors: scheper gc. Ann Neurol. 2006 Apr;59(4):724. doi: 10.1002/ana.20802. Ann Neurol. 2006. PMID: 16566013 No abstract available.
Astrocytes are central in the pathomechanisms of vanishing white matter.
Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AL, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, Scheper GC, Abbink TE, Heine VM, van der Knaap MS. Dooves S, et al. Among authors: scheper gc. J Clin Invest. 2016 Apr 1;126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14. J Clin Invest. 2016. PMID: 26974157 Free PMC article.
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.
Sharma S, Sankhyan N, Kumar A, Scheper GC, van der Knaap MS, Gulati S. Sharma S, et al. Among authors: scheper gc. J Child Neurol. 2011 Jun;26(6):773-6. doi: 10.1177/0883073810390695. Epub 2011 Apr 14. J Child Neurol. 2011. PMID: 21493805
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