-
2
-
-
78650585145
-
Tuberous sclerosis complex: Tumors and tumorigenesis
-
J. Borkowska, R.A. Schwartz, K. Kotulska, and S. Jozwiak Tuberous sclerosis complex: tumors and tumorigenesis Int J Dermatol 50 1 2011 13 20
-
(2011)
Int J Dermatol
, vol.50
, Issue.1
, pp. 13-20
-
-
Borkowska, J.1
Schwartz, R.A.2
Kotulska, K.3
Jozwiak, S.4
-
3
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
S.L. Dabora, S. Jozwiak, and D.N. Franz Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs Am J Hum Genet 68 1 2001 64 80
-
(2001)
Am J Hum Genet
, vol.68
, Issue.1
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
-
4
-
-
84890118994
-
Epilepsy in TSC: Certain etiology does not mean certain prognosis
-
A. Vignoli, F.L. Briola, and K. Turner Epilepsy in TSC: certain etiology does not mean certain prognosis Epilepsia 54 12 2013 2134 2142
-
(2013)
Epilepsia
, vol.54
, Issue.12
, pp. 2134-2142
-
-
Vignoli, A.1
Briola, F.L.2
Turner, K.3
-
5
-
-
0026096189
-
Causes of death in patients with tuberous sclerosis
-
C.W. Shepherd, M.R. Gomez, and J.T. Lie Causes of death in patients with tuberous sclerosis Mayo Clin Proc 66 8 1991 92 96
-
(1991)
Mayo Clin Proc
, vol.66
, Issue.8
, pp. 92-96
-
-
Shepherd, C.W.1
Gomez, M.R.2
Lie, J.T.3
-
7
-
-
0031897224
-
Poor mental development in patients with tuberous sclerosis complex: Clinical risk factors
-
S. Jóźwiak, M. Goodman, and S.H. Lamm Poor mental development in patients with tuberous sclerosis complex: clinical risk factors Arch Neurol 55 3 1998 379 384
-
(1998)
Arch Neurol
, vol.55
, Issue.3
, pp. 379-384
-
-
Jóźwiak, S.1
Goodman, M.2
Lamm, S.H.3
-
8
-
-
77954529084
-
The natural history of epilepsy in tuberous sclerosis complex
-
C.J. Chu-Shore, P. Major, and S. Camposano The natural history of epilepsy in tuberous sclerosis complex Epilepsia 51 7 2010 1236 1241
-
(2010)
Epilepsia
, vol.51
, Issue.7
, pp. 1236-1241
-
-
Chu-Shore, C.J.1
Major, P.2
Camposano, S.3
-
9
-
-
84903202809
-
EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - Prospective study of 5 patients
-
D. Domańska-Pakieła, M. Kaczorowska, and E. Jurkiewicz EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - prospective study of 5 patients Eur J Paediatr Neurol 18 4 2014 458 468
-
(2014)
Eur J Paediatr Neurol
, vol.18
, Issue.4
, pp. 458-468
-
-
Domańska-Pakieła, D.1
Kaczorowska, M.2
Jurkiewicz, E.3
-
10
-
-
80053003178
-
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
-
S. Jóźwiak, K. Kotulska, and D. Domańska-Pakieła Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex Eur J Paediatr Neurol 15 5 2011 424 431
-
(2011)
Eur J Paediatr Neurol
, vol.15
, Issue.5
, pp. 424-431
-
-
Jóźwiak, S.1
Kotulska, K.2
Domańska-Pakieła, D.3
-
11
-
-
33745270058
-
Surgical treatment of a neonate with refractory seizures secondary to congenital giant cell astrocytoma: Case report and literature review
-
S.F. Hon, G.K. Wong, and X.L. Zhu Surgical treatment of a neonate with refractory seizures secondary to congenital giant cell astrocytoma: case report and literature review Hong Kong Med J 12 3 2006 222 224
-
(2006)
Hong Kong Med J
, vol.12
, Issue.3
, pp. 222-224
-
-
Hon, S.F.1
Wong, G.K.2
Zhu, X.L.3
-
12
-
-
84884522817
-
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference
-
International Tuberous Sclerosis Complex Consensus Group
-
H. Northrup, D.A. Krueger International Tuberous Sclerosis Complex Consensus Group Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference Pediatr Neurol 49 4 2013 243 254
-
(2013)
Pediatr Neurol
, vol.49
, Issue.4
, pp. 243-254
-
-
Northrup, H.1
Krueger, D.A.2
-
13
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
-
A.T. Berg, S.F. Berkovic, and M.J. Brodie Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 Epilepsia 51 4 2010 676 685
-
(2010)
Epilepsia
, vol.51
, Issue.4
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
-
14
-
-
78651274775
-
The clinico-pathological spectrum of focal cortical dysplasias: A consensus classification proposed by ad hoc task force of the ILAE diagnostic methods commission
-
I. Bluemcke, M. Tmom, and E. Aronica The clinico-pathological spectrum of focal cortical dysplasias: a consensus classification proposed by ad hoc task force of the ILAE diagnostic methods commission Epilepsia 52 1 2011 158 174
-
(2011)
Epilepsia
, vol.52
, Issue.1
, pp. 158-174
-
-
Bluemcke, I.1
Tmom, M.2
Aronica, E.3
-
15
-
-
76249084241
-
Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies
-
M. Wong Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies Epilepsia 51 1 2010 27 36
-
(2010)
Epilepsia
, vol.51
, Issue.1
, pp. 27-36
-
-
Wong, M.1
-
16
-
-
37549016789
-
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
-
M. Wong Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation Epilepsia 49 1 2008 8 21
-
(2008)
Epilepsia
, vol.49
, Issue.1
, pp. 8-21
-
-
Wong, M.1
-
17
-
-
78651341863
-
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex
-
M. Kaczorowska, E. Jurkiewicz, and D. Domańska-Pakieła Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex Epilepsia 52 1 2011 22 27
-
(2011)
Epilepsia
, vol.52
, Issue.1
, pp. 22-27
-
-
Kaczorowska, M.1
Jurkiewicz, E.2
Domańska-Pakieła, D.3
-
18
-
-
84868377229
-
Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex
-
T.S. Ma, R.E. Elliott, and V. Ruppe Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex J Neurosurg Pediatr 10 5 2012 376 382
-
(2012)
J Neurosurg Pediatr
, vol.10
, Issue.5
, pp. 376-382
-
-
Ma, T.S.1
Elliott, R.E.2
Ruppe, V.3
-
19
-
-
77954519494
-
Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex
-
Y.A. Moshel, R. Elliott, and F. Teutonico Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex Epilepsia 51 7 2010 1242 1251
-
(2010)
Epilepsia
, vol.51
, Issue.7
, pp. 1242-1251
-
-
Moshel, Y.A.1
Elliott, R.2
Teutonico, F.3
-
20
-
-
77955927355
-
MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex
-
A. Gallagher, E.P. Grant, and N. Madan MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex J Neurol 257 8 2010 1373 1381
-
(2010)
J Neurol
, vol.257
, Issue.8
, pp. 1373-1381
-
-
Gallagher, A.1
Grant, E.P.2
Madan, N.3
-
22
-
-
84896320213
-
Fetal brain mTOR signaling activation in tuberous sclerosis complex
-
V. Tsai, W.E. Parker, and K.A. Orlova Fetal brain mTOR signaling activation in tuberous sclerosis complex Cereb Cortex 24 2 2014 315 327
-
(2014)
Cereb Cortex
, vol.24
, Issue.2
, pp. 315-327
-
-
Tsai, V.1
Parker, W.E.2
Orlova, K.A.3
-
23
-
-
78651064535
-
Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex
-
L.H. Zeng, N.R. Rensing, and B. Zhang Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex Hum Mol Genet 20 2011 445 454
-
(2011)
Hum Mol Genet
, vol.20
, pp. 445-454
-
-
Zeng, L.H.1
Rensing, N.R.2
Zhang, B.3
-
24
-
-
84883885410
-
Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models
-
L. Magri, M. Cominelli, and M. Cambiaghi Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models Dis Model Mech 6 5 2013 1185 1197
-
(2013)
Dis Model Mech
, vol.6
, Issue.5
, pp. 1185-1197
-
-
Magri, L.1
Cominelli, M.2
Cambiaghi, M.3
-
25
-
-
84877589482
-
Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations
-
M. Wong Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations Exp Neurol 244 2013 22 26
-
(2013)
Exp Neurol
, vol.244
, pp. 22-26
-
-
Wong, M.1
-
26
-
-
42449091925
-
Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type
-
W. Grajkowska, K. Kotulska, and E. Matyja Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type Folia Neuropathol 46 2008 43 48
-
(2008)
Folia Neuropathol
, vol.46
, pp. 43-48
-
-
Grajkowska, W.1
Kotulska, K.2
Matyja, E.3
-
27
-
-
77953873819
-
Balloon cells in human cortical dysplasia and tuberous sclerosis: Isolation of a pathological progenitor-like cell
-
S.A. Yasin, K. Latak, and F. Becherini Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell Acta Neuropathol 120 1 2010 85 96
-
(2010)
Acta Neuropathol
, vol.120
, Issue.1
, pp. 85-96
-
-
Yasin, S.A.1
Latak, K.2
Becherini, F.3
-
28
-
-
84881109740
-
MTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: Evidence from focal cortical dysplasia and tuberous sclerosis
-
S.A. Yasin, A.M. Ali, and M. Tata mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis Acta Neuropathol 126 2 2013 207 218
-
(2013)
Acta Neuropathol
, vol.126
, Issue.2
, pp. 207-218
-
-
Yasin, S.A.1
Ali, A.M.2
Tata, M.3
-
29
-
-
84890796647
-
Cell injury and premature neurodegeneration in focal malformations of cortical development
-
Iyer A1, A. Prabowo, and J. Anink Cell injury and premature neurodegeneration in focal malformations of cortical development Brain Pathol 24 1 2014 1 17
-
(2014)
Brain Pathol
, vol.24
, Issue.1
, pp. 1-17
-
-
Iyer, A.1
Prabowo, A.2
Anink, J.3
-
30
-
-
84887238486
-
Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex
-
P. Krsek, A. Jahodova, and M. Kyncl Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex Epilepsia 54 11 2013 1913 1921
-
(2013)
Epilepsia
, vol.54
, Issue.11
, pp. 1913-1921
-
-
Krsek, P.1
Jahodova, A.2
Kyncl, M.3
-
31
-
-
76349099553
-
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex
-
J.Y. Wu, N. Salamon, and H.E. Kirsch Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex Neurology 74 5 2010 392 398
-
(2010)
Neurology
, vol.74
, Issue.5
, pp. 392-398
-
-
Wu, J.Y.1
Salamon, N.2
Kirsch, H.E.3
-
32
-
-
84867101893
-
TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations
-
P. Curatolo, S. Jóźwiak, and R. Nabbout TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations Eur J Paediatr Neurol 16 6 2012 582 586
-
(2012)
Eur J Paediatr Neurol
, vol.16
, Issue.6
, pp. 582-586
-
-
Curatolo, P.1
Jóźwiak, S.2
Nabbout, R.3
-
33
-
-
84873548352
-
Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: An individual participant data meta-analysis
-
A. Fallah, G.H. Guyatt, and O.C. Snead 3rd Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis PLoS One 8 2 2013 e53565
-
(2013)
PLoS One
, vol.8
, Issue.2
, pp. 53565
-
-
Fallah, A.1
Guyatt, G.H.2
Snead, O.C.3
-
34
-
-
84871185406
-
Everolimus (RAD001): First systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
-
S. Józwiak, K. Stein, and K. Kotulska Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex Future Oncol 8 12 2012 1515 1523
-
(2012)
Future Oncol
, vol.8
, Issue.12
, pp. 1515-1523
-
-
Józwiak, S.1
Stein, K.2
Kotulska, K.3
-
35
-
-
84881310154
-
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
-
K. Kotulska, D. Chmielewski, and J. Borkowska Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex Eur J Paediatr Neurol 17 5 2013 479 485
-
(2013)
Eur J Paediatr Neurol
, vol.17
, Issue.5
, pp. 479-485
-
-
Kotulska, K.1
Chmielewski, D.2
Borkowska, J.3
|