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Results: 1 to 20 of 176

1.

Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis.

Waltereit R, Welzl H, Dichgans J, Lipp HP, Schmidt WJ, Weller M.

J Neurochem. 2006 Jan;96(2):407-13. Epub 2005 Nov 21.

PMID:
16300636
[PubMed - indexed for MEDLINE]
2.

Impaired synaptic plasticity in a rat model of tuberous sclerosis.

von der Brelie C, Waltereit R, Zhang L, Beck H, Kirschstein T.

Eur J Neurosci. 2006 Feb;23(3):686-92.

PMID:
16487150
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
23485365
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group.

Hum Mutat. 2005 Oct;26(4):374-83.

PMID:
16114042
[PubMed - indexed for MEDLINE]
5.

Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

Uhlmann EJ, Apicelli AJ, Baldwin RL, Burke SP, Bajenaru ML, Onda H, Kwiatkowski D, Gutmann DH.

Oncogene. 2002 Jun 6;21(25):4050-9.

PMID:
12037687
[PubMed - indexed for MEDLINE]
Free Article
6.

Tuberous sclerosis complex and DNA repair.

Habib SL.

Adv Exp Med Biol. 2010;685:84-94. Review.

PMID:
20687497
[PubMed - indexed for MEDLINE]
7.

Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.

Chu-Shore CJ, Major P, Montenegro M, Thiele E.

Neurology. 2009 Mar 31;72(13):1165-9. doi: 10.1212/01.wnl.0000345365.92821.86.

PMID:
19332694
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V.

Am J Hum Genet. 2001 Sep;69(3):493-503. Epub 2001 Jul 20.

PMID:
11468687
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM.

Genet Test. 2005 Fall;9(3):226-30.

PMID:
16225402
[PubMed - indexed for MEDLINE]
11.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed M, Adriaans A, Wessels M, Maat-Kievit A, Baars M, Dommering C, van den Ouweland A, Halley D.

BMC Med Genet. 2008 Feb 26;9:10. doi: 10.1186/1471-2350-9-10.

PMID:
18302728
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M.

Neurology. 2008 Mar 18;70(12):908-15. Epub 2007 Nov 21.

PMID:
18032745
[PubMed - indexed for MEDLINE]
13.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.

Am J Hum Genet. 2001 Jan;68(1):64-80. Epub 2000 Dec 8.

PMID:
11112665
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells.

Floricel F, Higaki K, Maki H, Nanba E, Ninomiya H, Ohno K.

Brain Dev. 2007 Sep;29(8):502-9. Epub 2007 Mar 21.

PMID:
17376623
[PubMed - indexed for MEDLINE]
15.

Tuberous sclerosis complex and epilepsy: recent developments and future challenges.

Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group.

Epilepsia. 2007 Apr;48(4):617-30. Epub 2007 Mar 26. Review.

PMID:
17386056
[PubMed - indexed for MEDLINE]
16.

Morphology of cerebral lesions in the Eker rat model of tuberous sclerosis.

Wenzel HJ, Patel LS, Robbins CA, Emmi A, Yeung RS, Schwartzkroin PA.

Acta Neuropathol. 2004 Aug;108(2):97-108. Epub 2004 Jun 5.

PMID:
15185103
[PubMed - indexed for MEDLINE]
17.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.

Am J Hum Genet. 1999 May;64(5):1305-15. Review.

PMID:
10205261
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].

Feng JH, Ding MP, Yang CW.

Zhonghua Er Ke Za Zhi. 2003 Mar;41(3):223-6. Chinese.

PMID:
14756965
[PubMed - indexed for MEDLINE]
19.

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Rok P, Kasprzyk-Obara J, Domańska-Pakieła D, Jóźwiak S.

Med Sci Monit. 2005 May;11(5):CR230-234. Epub 2005 Apr 28.

PMID:
15874888
[PubMed - indexed for MEDLINE]
20.

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

Zeng LH, Rensing NR, Zhang B, Gutmann DH, Gambello MJ, Wong M.

Hum Mol Genet. 2011 Feb 1;20(3):445-54. doi: 10.1093/hmg/ddq491. Epub 2010 Nov 9.

PMID:
21062901
[PubMed - indexed for MEDLINE]
Free PMC Article
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