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Items: 1 to 20 of 120

1.

Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.

Prabowo AS, Anink JJ, Lammens M, Nellist M, van den Ouweland AM, Adle-Biassette H, Sarnat HB, Flores-Sarnat L, Crino PB, Aronica E.

Brain Pathol. 2013 Jan;23(1):45-59. doi: 10.1111/j.1750-3639.2012.00616.x. Epub 2012 Aug 30.

2.

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.

Feliciano DM, Lin TV, Hartman NW, Bartley CM, Kubera C, Hsieh L, Lafourcade C, O'Keefe RA, Bordey A.

Int J Dev Neurosci. 2013 Nov;31(7):667-78. doi: 10.1016/j.ijdevneu.2013.02.008. Epub 2013 Feb 26. Review.

3.

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.

Way SW, McKenna J 3rd, Mietzsch U, Reith RM, Wu HC, Gambello MJ.

Hum Mol Genet. 2009 Apr 1;18(7):1252-65. doi: 10.1093/hmg/ddp025. Epub 2009 Jan 15.

4.

Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with Mammalian target of rapamycin inhibitors.

Prato G, Mancardi MM, Baglietto MG, Janis S, Vercellino N, Rossi A, Consales A, Raso A, Garrè ML.

J Child Neurol. 2014 Sep;29(9):NP54-7. doi: 10.1177/0883073813499969. Epub 2013 Sep 20.

PMID:
24056156
5.

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Erratum in: Hum Mutat. 2013 Feb;34(2):408-10. van Eeghen, Agnies M [added]; Thiele, Elizabeth A [added].

PMID:
22903760
6.

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

Abs E, Goorden SM, Schreiber J, Overwater IE, Hoogeveen-Westerveld M, Bruinsma CF, Aganović E, Borgesius NZ, Nellist M, Elgersma Y.

Ann Neurol. 2013 Oct;74(4):569-79. doi: 10.1002/ana.23943. Epub 2013 Sep 10.

PMID:
23720219
7.

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Crino PB, Aronica E, Baltuch G, Nathanson KL.

Neurology. 2010 May 25;74(21):1716-23. doi: 10.1212/WNL.0b013e3181e04325.

8.

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex.

Boer K, Troost D, Jansen F, Nellist M, van den Ouweland AM, Geurts JJ, Spliet WG, Crino P, Aronica E.

Neuropathology. 2008 Dec;28(6):577-90. doi: 10.1111/j.1440-1789.2008.00920.x. Epub 2008 Apr 11.

PMID:
18410267
9.

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ.

J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42.

PMID:
15624760
11.

Fetal brain mTOR signaling activation in tuberous sclerosis complex.

Tsai V, Parker WE, Orlova KA, Baybis M, Chi AW, Berg BD, Birnbaum JF, Estevez J, Okochi K, Sarnat HB, Flores-Sarnat L, Aronica E, Crino PB.

Cereb Cortex. 2014 Feb;24(2):315-27. doi: 10.1093/cercor/bhs310. Epub 2012 Oct 18.

12.

Cellular localization of metabotropic glutamate receptors in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex.

Boer K, Troost D, Timmermans W, Gorter JA, Spliet WG, Nellist M, Jansen F, Aronica E.

Neuroscience. 2008 Sep 22;156(1):203-15. doi: 10.1016/j.neuroscience.2008.06.073. Epub 2008 Jul 25.

PMID:
18706978
13.

Brain lesions in tuberous sclerosis complex. Review.

Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E.

Folia Neuropathol. 2010;48(3):139-49. Review.

14.

Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients.

Kotulska K, Borkowska J, Roszkowski M, Mandera M, Daszkiewicz P, Drabik K, Jurkiewicz E, Larysz-Brysz M, Nowak K, Grajkowska W, Domańska-Pakieła D, Jóźwiak S.

Pediatr Neurol. 2014 Apr;50(4):307-12. doi: 10.1016/j.pediatrneurol.2013.12.004. Epub 2013 Dec 10.

PMID:
24507694
15.

Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

Anderl S, Freeland M, Kwiatkowski DJ, Goto J.

Hum Mol Genet. 2011 Dec 1;20(23):4597-604. doi: 10.1093/hmg/ddr393. Epub 2011 Sep 1.

16.

Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis.

Kerfoot C, Wienecke R, Menchine M, Emelin J, Maize JC Jr, Welsh CT, Norman MG, DeClue JE, Vinters HV.

Brain Pathol. 1996 Oct;6(4):367-75.

PMID:
8944308
17.

Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signalling.

Ferrer I, Mohan P, Chen H, Castellsague J, Gómez-Baldó L, Carmona M, García N, Aguilar H, Jiang J, Skowron M, Nellist M, Ampuero I, Russi A, Lázaro C, Maxwell CA, Pujana MA.

J Pathol. 2014 Jul;233(3):247-57. doi: 10.1002/path.4343. Epub 2014 Apr 29. Erratum in: J Pathol. 2016 Jun;239(2):242.

PMID:
24604753
18.

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.

Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE.

Ann Neurol. 2008 Apr;63(4):454-65. doi: 10.1002/ana.21342.

19.

Pathological Findings of a Subependymal Giant Cell Astrocytoma Following Treatment With Rapamycin.

Cheng S, Hawkins C, Taylor MD, Bartels U.

Pediatr Neurol. 2015 Sep;53(3):238-242.e1. doi: 10.1016/j.pediatrneurol.2015.05.020. Epub 2015 Jun 14.

PMID:
26173783
20.

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex.

Boer K, Jansen F, Nellist M, Redeker S, van den Ouweland AM, Spliet WG, van Nieuwenhuizen O, Troost D, Crino PB, Aronica E.

Epilepsy Res. 2008 Jan;78(1):7-21. Epub 2007 Nov 26.

PMID:
18023148

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