Page 185 - scheppingen
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References
1. Ruppe V, Dilsiz P, Reiss CS, et al. Developmental brain abnormalities in tuberous sclerosis com- plex: a comparative tissue analysis of cortical tubers and perituberal cortex. Epilepsia. 2014 Apr;55(4):539-50.
2. Kwiatkowski DJ. Tuberous sclerosis: from tubers to mTOR. Annals of Human Genetics. 2003;67(Pt 1):87-96.
3. Boer K, Troost D, Jansen F, et al. Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology. 2008;28(6):577-90.
4. Blumcke I, Spreafico R, Haaker G, et al. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. The New England journal of medicine. 2017 Oct 26;377(17):1648-56.
5. Blumcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia. 2011 Jan;52(1):158-74.
6. Krsek P, Pieper T, Karlmeier A, et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia. 2009 Jan;50(1):125-37.
7. Fauser S, Essang C, Altenmuller DM, et al. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia. 2015 Jan;56(1):66-76.
8. Bagla S, Cukovic D, Asano E, et al. A distinct microRNA expression profile is associated with alpha[(11)C]-methyl-L-tryptophan (AMT) PET uptake in epileptogenic cortical tubers resected from patients with tuberous sclerosis complex. Neurobiology of disease. 2018 Jan;109(Pt A):76-87.
9. Jones PA. Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nature reviews Genetics. 2012 May 29;13(7):484-92.
10. Aoi Y, Nakahama K, Morita I, Safronova O. The involvement of DNA and histone methylation in the repression of IL-1beta-induced MCP-1 production by hypoxia. Biochem Biophys Res Commun. 2011 Oct 14;414(1):252-8.
11. Hashimoto K, Otero M, Imagawa K, et al. Regulated transcription of human matrix metalloprotein- ase 13 (MMP13) and interleukin-1beta (IL1B) genes in chondrocytes depends on methylation of specific proximal promoter CpG sites. J Biol Chem. 2013 Apr 5;288(14):10061-72.
12. Tekpli X, Landvik NE, Anmarkud KH, Skaug V, Haugen A, Zienolddiny S. DNA methylation at pro- moter regions of interleukin 1B, interleukin 6, and interleukin 8 in non-small cell lung cancer. Cancer Immunol Immunother. 2013 Feb;62(2):337-45.
13. Fuso A, Iyer AM, van Scheppingen J, et al. Promoter-Specific Hypomethylation Correlates with IL-1beta Overexpression in Tuberous Sclerosis Complex (TSC). J Mol Neurosci. 2016 Aug;59(4):464-70.
14. Mizuguchi M, Takashima S. Neuropathology of tuberous sclerosis. Brain & development. 2001;23(7):508-15.
15. DiMario FJ, Jr. Brain abnormalities in tuberous sclerosis complex. Journal of child neurology. 2004;19(9):650-7.
16. Aronica E, Crino PB. Epilepsy related to developmental tumors and malformations of cortical development. Neurotherapeutics. 2014 Apr;11(2):251-68.
17. Muhlebner A, Iyer AM, van Scheppingen J, et al. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-spe- cific marker expression. J Neurodev Disord. 2016;8:9.
18. Figlia G, Gerber D, Suter U. Myelination and mTOR. Glia. 2018 Apr;66(4):693-707.
19. Scholl T, Muhlebner A, Ricken G, et al. Impaired oligodendroglial turnover is associated with myelin
pathology in focal cortical dysplasia and tuberous sclerosis complex. Brain Pathol. 2016 Oct 17.
20. Ercan E, Han JM, Di Nardo A, et al. Neuronal CTGF/CCN2 negatively regulates myelination in a
mouse model of tuberous sclerosis complex. J Exp Med. 2017 Mar 06;214(3):681-97.
21. Lebrun-Julien F, Bachmann L, Norrmen C, et al. Balanced mTORC1 activity in oligodendrocytes is required for accurate CNS myelination. The Journal of neuroscience : the official journal of the
Society for Neuroscience. 2014 Jun 18;34(25):8432-48.
22. Carson RP, Kelm ND, West KL, et al. Hypomyelination following deletion of Tsc2 in oligodendro-
cyte precursors. Ann Clin Transl Neurol. 2015 Dec;2(12):1041-54.
23. Jiang M, Liu L, He X, et al. Regulation of PERK-eIF2alpha signalling by tuberous sclerosis complex-1
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