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Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.281-290

2018

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Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1273-1291

2019

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Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53

The EMBO journal, 2007-11, Vol.26 (23), p.4812-4823

2007

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Insulin signaling pathways in cortical dysplasia and TSC-tubers: Tissue microarray analysis

Annals of neurology, 2004-10, Vol.56 (4), p.510-519

2004

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Expression patterns of synaptic vesicle protein 2A in focal cortical dysplasia and TSC‐cortical tubers

Epilepsia (Copenhagen), 2009-06, Vol.50 (6), p.1409-1418

2009

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Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes

The FEBS journal, 2010-05, Vol.277 (9), p.2180-2191

2010

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Neuropsychological attention deficits in tuberous sclerosis complex (TSC)

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.387-395

2009

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Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology

Glia, 2004-04, Vol.46 (1), p.28-40

2004

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Design, Fabrication, and Application of Thermostructural Composites (TSC) like C/C, C/SiC, and SiC/SiC Composites

Advanced engineering materials, 2002-12, Vol.4 (12), p.903-912

Christin, F.

2002

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Simultaneous Cushing's disease and tuberous sclerosis; a potential role for TSC in pituitary ontogeny

Clinical endocrinology (Oxford), 2005-12, Vol.63 (6), p.694-695

2005

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Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band l6p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

Genes chromosomes & cancer, 1995-08, Vol.13 (4), p.295-298

1995

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mTOR regulation of autophagy

FEBS letters, 2010-04, Vol.584 (7), p.1287-1295

2010

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TSC-box is essential for the nuclear localization and antiproliferative effect of XTSC-22

Development, growth & differentiation, 2007-04, Vol.49 (3), p.197-204

2007

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Severity of manifestations in tuberous sclerosis complex in relation to genotype

Epilepsia (Copenhagen), 2014-07, Vol.55 (7), p.1025-1029

2014

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Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Genes chromosomes & cancer, 2021-03, Vol.60 (3), p.168-179

2021

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Autophagy and tumorigenesis

FEBS letters, 2010-04, Vol.584 (7), p.1427-1435

2010

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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.355-364

2018

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Downregulation of putative tumor suppressor gene TSC-22 in human brain tumors

Journal of surgical oncology, 2003-01, Vol.82 (1), p.57-64

2003

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Role of TSC‐22 during early embryogenesis in Xenopus laevis

Development, growth & differentiation, 2004-12, Vol.46 (6), p.535-544

2004

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Role of AMP-activated protein kinase in the metabolic syndrome and in heart disease

FEBS letters, 2008-01, Vol.582 (1), p.81-89

Hardie, D. Grahame

2008

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Direct activation of mTOR in B lymphocytes confers impairment in B‐cell maturation andloss of marginal zone B cells

European journal of immunology, 2011-08, Vol.41 (8), p.2390-2396

2011

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Regulation of c‐MYC transcriptional activity by transforming growth factor‐beta 1‐stimulated clone 22

Cancer science, 2018-02, Vol.109 (2), p.395-402

2018

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A.C. dielectric and TSC studies of constrained amorphous motions in flexible polymers including poly(oxymethylene) and miscible blends

Journal of polymer science. Part B, Polymer physics, 1997-09, Vol.35 (13), p.2121-2132

1997

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Appropriate targeting of artemisinin‐based combination therapy by community health workers using malaria rapid diagnostic tests: findings from randomized trials in two contrasting areas of high and low malaria transmission in south‐western Uganda

Tropical medicine & international health, 2016-09, Vol.21 (9), p.1157-1170

2016

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Tuberous sclerosis: A primary pathology of astrocytes?

Epilepsia (Copenhagen), 2008-02, Vol.49 (s2), p.53-62

2008

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Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model

Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53

Insulin signaling pathways in cortical dysplasia and TSC-tubers: Tissue microarray analysis

Expression patterns of synaptic vesicle protein 2A in focal cortical dysplasia and TSC‐cortical tubers

Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes

Neuropsychological attention deficits in tuberous sclerosis complex (TSC)

Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology

Design, Fabrication, and Application of Thermostructural Composites (TSC) like C/C, C/SiC, and SiC/SiC Composites

Simultaneous Cushing's disease and tuberous sclerosis; a potential role for TSC in pituitary ontogeny

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band l6p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

mTOR regulation of autophagy

TSC-box is essential for the nuclear localization and antiproliferative effect of XTSC-22

Severity of manifestations in tuberous sclerosis complex in relation to genotype

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Autophagy and tumorigenesis

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Downregulation of putative tumor suppressor gene TSC-22 in human brain tumors

Role of TSC‐22 during early embryogenesis in Xenopus laevis

Role of AMP-activated protein kinase in the metabolic syndrome and in heart disease

Direct activation of mTOR in B lymphocytes confers impairment in B‐cell maturation andloss of marginal zone B cells

Regulation of c‐MYC transcriptional activity by transforming growth factor‐beta 1‐stimulated clone 22

A.C. dielectric and TSC studies of constrained amorphous motions in flexible polymers including poly(oxymethylene) and miscible blends

Appropriate targeting of artemisinin‐based combination therapy by community health workers using malaria rapid diagnostic tests: findings from randomized trials in two contrasting areas of high and low malaria transmission in south‐western Uganda

Tuberous sclerosis: A primary pathology of astrocytes?

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