Page 146 - Molecular features of low-grade developmental brain tumours
P. 146

 5
144
CHAPTER 5
References
1. Curatolo, P., Bombardieri, R. & Jozwiak, S. Tuberous sclerosis. Lancet 372, 657-668, doi:10.1016/ S0140-6736(08)61279-9 (2008).
2. DiMario, F. J., Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 19, 650-657 (2004).
3. European Chromosome 16 Tuberous Sclerosis, C. Identification and characterization of the
tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315 (1993).
4. van Slegtenhorst, M. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science 277, 805-808 (1997).
5. Kwiatkowski, D. J. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of
tuberous sclerosis. Cancer Biol Ther 2, 471-476, doi:10.4161/cbt.2.5.446 (2003).
6. Chan, J. A. et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol 63, 1236-1242,
doi:10.1093/jnen/63.12.1236 (2004).
7. Inoki, K., Li, Y., Zhu, T., Wu, J. & Guan, K. L. TSC2 is phosphorylated and inhibited by Akt and
suppresses mTOR signalling. Nat Cell Biol 4, 648-657, doi:10.1038/ncb839 (2002).
8. Laplante, M. & Sabatini, D. M. Regulation of mTORC1 and its impact on gene expression at a glance.
J Cell Sci 126, 1713-1719, doi:10.1242/jcs.125773 (2013).
9. Aronica, E., Becker, A. J. & Spreafico, R. Malformations of cortical development. Brain Pathol 22, 380-
401, doi:10.1111/j.1750-3639.2012.00581.x (2012).
10. Aronica, E. & Crino, P. B. Epilepsy related to developmental tumors and malformations of cortical
development. Neurotherapeutics 11, 251-268, doi:10.1007/s13311-013-0251-0 (2014).
11. Mizuguchi, M. & Takashima, S. Neuropathology of tuberous sclerosis. Brain Dev 23, 508-515 (2001).
12. Adriaensen, M. E. et al. Prevalence of subependymal giant cell tumors in patients with
tuberous sclerosis and a review of the literature. Eur J Neurol 16, 691-696, doi:10.1111/j.1468-
1331.2009.02567.x (2009).
13. Kingswood, J. C. et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline
data on 2093 patients. Orphanet J Rare Dis 12, 2, doi:10.1186/s13023-016-0553-5 (2017).
14. Kothare, S. V. et al. Severity of manifestations in tuberous sclerosis complex in relation to genotype.
Epilepsia 55, 1025-1029, doi:10.1111/epi.12680 (2014).
15. Goh, S., Butler, W. & Thiele, E. A. Subependymal giant cell tumors in tuberous sclerosis complex.
Neurology 63, 1457-1461, doi:10.1212/01.wnl.0000142039.14522.1a (2004).
16. Cuccia, V. et al. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv
Syst 19, 232-243, doi:10.1007/s00381-002-0700-2 (2003).
17. Amin, S. et al. The outcome of surgical management of subependymal giant cell astrocytoma in
tuberous sclerosis complex. Eur J Paediatr Neurol 17, 36-44, doi:10.1016/j.ejpn.2012.10.005 (2013).
18. Curatolo, P., Moavero, R. & de Vries, P. J. Neurological and neuropsychiatric aspects of tuberous
sclerosis complex. Lancet Neurol 14, 733-745, doi:10.1016/S1474-4422(15)00069-1 (2015).
19. Bonnin, J. M., Rubinstein, L. J., Papasozomenos, S. C. & Marangos, P. J. Subependymal giant cell astrocytoma. Significance and possible cytogenetic implications of an immunohistochemical study.
Acta Neuropathol 62, 185-193, doi:10.1007/bf00691851 (1984).
20. Buccoliero, A. M. et al. Subependymal giant cell astrocytoma (SEGA): Is it an astrocytoma?
Morphological, immunohistochemical and ultrastructural study. Neuropathology 29, 25-30,
doi:10.1111/j.1440-1789.2008.00934.x (2009).
21. Fujiwara, S., Takaki, T., Hikita, T. & Nishio, S. Subependymal giant-cell astrocytoma associated with
tuberous sclerosis. Do subependymal nodules grow? Childs Nerv Syst 5, 43-44 (1989).






















































   144   145   146   147   148