-
1
-
-
81055153389
-
Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex
-
Anderl S., Freeland M., Kwiatkowski D.J., Goto J. Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. Human Molecular Genetics 2011, 20:4597-4604.
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 4597-4604
-
-
Anderl, S.1
Freeland, M.2
Kwiatkowski, D.J.3
Goto, J.4
-
2
-
-
67651092097
-
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain
-
Andrade D.M. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Human Genetics 2009, 126:173-193.
-
(2009)
Human Genetics
, vol.126
, pp. 173-193
-
-
Andrade, D.M.1
-
4
-
-
8844286824
-
Molecular genetic basis of tuberous sclerosis complex: from bench to bedside
-
Au K.S., Williams A.T., Gambello M.J., Northrup H. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. Journal of Child Neurology 2004, 19:699-709.
-
(2004)
Journal of Child Neurology
, vol.19
, pp. 699-709
-
-
Au, K.S.1
Williams, A.T.2
Gambello, M.J.3
Northrup, H.4
-
5
-
-
82555196668
-
Mutations causing syndromic autism define an axis of synaptic pathophysiology
-
63-U222
-
Auerbach B.D., Osterweil E.K., Bear M.F. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 2011, 480. 63-U222.
-
(2011)
Nature
, vol.480
-
-
Auerbach, B.D.1
Osterweil, E.K.2
Bear, M.F.3
-
6
-
-
33645634996
-
Regulation of eukaryotic initiation factor 4E by converging signaling pathways during metabotropic glutamate receptor-dependent long-term depression
-
Banko J.L., Hou L., Poulin F., Sonenberg N., Klann E. Regulation of eukaryotic initiation factor 4E by converging signaling pathways during metabotropic glutamate receptor-dependent long-term depression. Journal of Neuroscience 2006, 26:2167-2173.
-
(2006)
Journal of Neuroscience
, vol.26
, pp. 2167-2173
-
-
Banko, J.L.1
Hou, L.2
Poulin, F.3
Sonenberg, N.4
Klann, E.5
-
7
-
-
27144474796
-
The translation repressor 4E-BP2 is critical for eIF4F complex formation, synaptic plasticity, and memory in the hippocampus
-
Banko J.L., Poulin F., Hou L., DeMaria C.T., Sonenberg N., Klann E. The translation repressor 4E-BP2 is critical for eIF4F complex formation, synaptic plasticity, and memory in the hippocampus. Journal of Neuroscience 2005, 25:9581-9590.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 9581-9590
-
-
Banko, J.L.1
Poulin, F.2
Hou, L.3
DeMaria, C.T.4
Sonenberg, N.5
Klann, E.6
-
8
-
-
79959289977
-
Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function
-
Bateup H.S., Takasaki K.T., Saulnier J.L., Denefrio C.L., Sabatini B.L. Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function. Journal of Neuroscience 2011, 31:8862-8869.
-
(2011)
Journal of Neuroscience
, vol.31
, pp. 8862-8869
-
-
Bateup, H.S.1
Takasaki, K.T.2
Saulnier, J.L.3
Denefrio, C.L.4
Sabatini, B.L.5
-
9
-
-
4844231148
-
MTOR cascade activation distinguishes tubers from focal cortical dysplasia
-
Baybis M., Yu J., Lee A., Golden J.A., Weiner H., McKhann G., Aronica E., Crino P.B. mTOR cascade activation distinguishes tubers from focal cortical dysplasia. Annals of Neurology 2004, 56:478-487.
-
(2004)
Annals of Neurology
, vol.56
, pp. 478-487
-
-
Baybis, M.1
Yu, J.2
Lee, A.3
Golden, J.A.4
Weiner, H.5
McKhann, G.6
Aronica, E.7
Crino, P.B.8
-
10
-
-
0019156779
-
Central nervous system pathology of tuberous sclerosis in children
-
Bender B.L., Yunis E.J. Central nervous system pathology of tuberous sclerosis in children. Ultrastructural Pathology 1980, 1:287-299.
-
(1980)
Ultrastructural Pathology
, vol.1
, pp. 287-299
-
-
Bender, B.L.1
Yunis, E.J.2
-
11
-
-
0141960190
-
Cortical development and focal cortical dysplasia
-
Bentivoglio M., Tassi L., Pech E., Costa C., Fabene P.F., Spreafico R. Cortical development and focal cortical dysplasia. Epileptic Disorders 2003, 5(Suppl. 2):S27-S34.
-
(2003)
Epileptic Disorders
, vol.5
, Issue.SUPPL. 2
-
-
Bentivoglio, M.1
Tassi, L.2
Pech, E.3
Costa, C.4
Fabene, P.F.5
Spreafico, R.6
-
12
-
-
54849415263
-
Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex
-
Boer K., Troost D., Jansen F., Nellist M., Van Den Ouweland A.M.W., Geurts J.J.G., Spliet W.G.M., Crino P., Aronica E. Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology 2008, 28:577-590.
-
(2008)
Neuropathology
, vol.28
, pp. 577-590
-
-
Boer, K.1
Troost, D.2
Jansen, F.3
Nellist, M.4
Van Den Ouweland, A.M.W.5
Geurts, J.J.G.6
Spliet, W.G.M.7
Crino, P.8
Aronica, E.9
-
13
-
-
56649090957
-
Epilepsy surgery and tuberous sclerosis complex: special considerations
-
Bollo R.J., Kalhorn S.P., Carlson C., Haegeli V., Devinsky O., Weiner H.L. Epilepsy surgery and tuberous sclerosis complex: special considerations. Neurosurgical Focus 2008, 25:E13.
-
(2008)
Neurosurgical Focus
, vol.25
-
-
Bollo, R.J.1
Kalhorn, S.P.2
Carlson, C.3
Haegeli, V.4
Devinsky, O.5
Weiner, H.L.6
-
14
-
-
80053040394
-
Adult neurogenesis in mammals - a theme with many variations
-
Bonfanti L., Peretto P. Adult neurogenesis in mammals - a theme with many variations. European Journal of Neuroscience 2011, 34:930-950.
-
(2011)
European Journal of Neuroscience
, vol.34
, pp. 930-950
-
-
Bonfanti, L.1
Peretto, P.2
-
15
-
-
0026538490
-
MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review
-
Braffman B.H., Bilaniuk L.T., Naidich T.P., Altman N.R., Post M.J., Quencer R.M., Zimmerman R.A., Brody B.A. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992, 183:227-238.
-
(1992)
Radiology
, vol.183
, pp. 227-238
-
-
Braffman, B.H.1
Bilaniuk, L.T.2
Naidich, T.P.3
Altman, N.R.4
Post, M.J.5
Quencer, R.M.6
Zimmerman, R.A.7
Brody, B.A.8
-
16
-
-
0344630216
-
Time-restricted role for dendritic activation of the mTOR-p70S6K pathway in the induction of late-phase long-term potentiation in the CA1
-
Cammalleri M., Lutjens R., Berton F., King A.R., Simpson C., Francesconi W., Sanna P.P. Time-restricted role for dendritic activation of the mTOR-p70S6K pathway in the induction of late-phase long-term potentiation in the CA1. Proceedings of the National Academy of Sciences of the United States of America 2003, 100:14368-14373.
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, pp. 14368-14373
-
-
Cammalleri, M.1
Lutjens, R.2
Berton, F.3
King, A.R.4
Simpson, C.5
Francesconi, W.6
Sanna, P.P.7
-
18
-
-
81955164876
-
Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
-
Carson R.P., Van Nielen D.L., Winzenburger P.A., Ess K.C. Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. Neurobiology of Disease 2012, 45:369-380.
-
(2012)
Neurobiology of Disease
, vol.45
, pp. 369-380
-
-
Carson, R.P.1
Van Nielen, D.L.2
Winzenburger, P.A.3
Ess, K.C.4
-
19
-
-
77954512649
-
Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II
-
Cepeda C., André V.M., Yamazaki I., Hauptman J.S., Chen J.Y., Vinters H.V., Mathern G.W., Levine M.S. Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia 2010, 51:160-165.
-
(2010)
Epilepsia
, vol.51
, pp. 160-165
-
-
Cepeda, C.1
André, V.M.2
Yamazaki, I.3
Hauptman, J.S.4
Chen, J.Y.5
Vinters, H.V.6
Mathern, G.W.7
Levine, M.S.8
-
20
-
-
10044259616
-
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation
-
Chan J.A., Zhang H., Roberts P.S., Jozwiak S., Wieslawa G., Lewin-Kowalik J., Kotulska K., Kwiatkowski D.J. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. Journal of Neuropathology and Experimental Neurology 2004, 63:1236-1242.
-
(2004)
Journal of Neuropathology and Experimental Neurology
, vol.63
, pp. 1236-1242
-
-
Chan, J.A.1
Zhang, H.2
Roberts, P.S.3
Jozwiak, S.4
Wieslawa, G.5
Lewin-Kowalik, J.6
Kotulska, K.7
Kwiatkowski, D.J.8
-
21
-
-
84856574984
-
Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the Delta RG mouse model of tuberous sclerosis complex
-
Chevere-Torres I., Kaphzan H., Bhattacharya A., Kang A., Maki J.M., Gambello M.J., Arbiser J.L., Santini E., Klann E. Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the Delta RG mouse model of tuberous sclerosis complex. Neurobiology of Disease 2012, 45:1101-1110.
-
(2012)
Neurobiology of Disease
, vol.45
, pp. 1101-1110
-
-
Chevere-Torres, I.1
Kaphzan, H.2
Bhattacharya, A.3
Kang, A.4
Maki, J.M.5
Gambello, M.J.6
Arbiser, J.L.7
Santini, E.8
Klann, E.9
-
22
-
-
81955162945
-
Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin
-
Chevere-Torres I., Maki J.M., Santini E., Klann E. Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin. Neurobiology of Disease 2012, 45:156-164.
-
(2012)
Neurobiology of Disease
, vol.45
, pp. 156-164
-
-
Chevere-Torres, I.1
Maki, J.M.2
Santini, E.3
Klann, E.4
-
23
-
-
51949094890
-
Tuberous sclerosis complex proteins control axon formation
-
Choi Y.-J., Di Nardo A., Kramvis I., Meikle L., Kwiatkowski D.J., Sahin M., He X. Tuberous sclerosis complex proteins control axon formation. Genes & Development 2008, 22:2485-2495.
-
(2008)
Genes & Development
, vol.22
, pp. 2485-2495
-
-
Choi, Y.-J.1
Di Nardo, A.2
Kramvis, I.3
Meikle, L.4
Kwiatkowski, D.J.5
Sahin, M.6
He, X.7
-
24
-
-
0031736092
-
Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-l-tryptophan positron emission tomography
-
Chugani D.C., Chugani H.T., Muzik O., Shah J.R., Shah A.K., Canady A., Mangner T.J., Chakraborty P.K. Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-l-tryptophan positron emission tomography. Annals of Neurology 1998, 44:858-866.
-
(1998)
Annals of Neurology
, vol.44
, pp. 858-866
-
-
Chugani, D.C.1
Chugani, H.T.2
Muzik, O.3
Shah, J.R.4
Shah, A.K.5
Canady, A.6
Mangner, T.J.7
Chakraborty, P.K.8
-
25
-
-
8844224854
-
Molecular pathogenesis of tuber formation in tuberous sclerosis complex
-
Crino P.B. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. Journal of Child Neurology 2004, 19:716-725.
-
(2004)
Journal of Child Neurology
, vol.19
, pp. 716-725
-
-
Crino, P.B.1
-
26
-
-
84878867454
-
Evolving neurobiology of tuberous sclerosis complex
-
Crino P.B. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathologica 2013, 125:317-332.
-
(2013)
Acta Neuropathologica
, vol.125
, pp. 317-332
-
-
Crino, P.B.1
-
28
-
-
84867101893
-
Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations
-
Curatolo P., Jozwiak S., Nabbout R. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. European Journal of Paediatric Neurology 2012, 16:582-586.
-
(2012)
European Journal of Paediatric Neurology
, vol.16
, pp. 582-586
-
-
Curatolo, P.1
Jozwiak, S.2
Nabbout, R.3
-
29
-
-
77954502264
-
Can we change the course of epilepsy in tuberous sclerosis complex?
-
Curatolo P., Moavero R. Can we change the course of epilepsy in tuberous sclerosis complex?. Epilepsia 2010, 51:1330-1331.
-
(2010)
Epilepsia
, vol.51
, pp. 1330-1331
-
-
Curatolo, P.1
Moavero, R.2
-
30
-
-
77954403744
-
Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment
-
Curatolo P., Napolioni V., Moavero R. Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment. Journal of Child Neurology 2010, 25:873-880.
-
(2010)
Journal of Child Neurology
, vol.25
, pp. 873-880
-
-
Curatolo, P.1
Napolioni, V.2
Moavero, R.3
-
31
-
-
0025613368
-
Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis
-
Cusmai R., Chiron C., Curatolo P., Dulac O., Tran-Dinh S. Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis. Epilepsia 1990, 31:747-755.
-
(1990)
Epilepsia
, vol.31
, pp. 747-755
-
-
Cusmai, R.1
Chiron, C.2
Curatolo, P.3
Dulac, O.4
Tran-Dinh, S.5
-
33
-
-
3843073157
-
Subventricular zone-derived neuronal progenitors migrate into the subcortical forebrain of postnatal mice
-
De Marchis S., Fasolo A., Puche A.C. Subventricular zone-derived neuronal progenitors migrate into the subcortical forebrain of postnatal mice. Journal of Comparative Neurology 2004, 476:290-300.
-
(2004)
Journal of Comparative Neurology
, vol.476
, pp. 290-300
-
-
De Marchis, S.1
Fasolo, A.2
Puche, A.C.3
-
34
-
-
77954888764
-
Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex
-
de Vries P. Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex. Neurotherapeutics 2010, 7:275-282.
-
(2010)
Neurotherapeutics
, vol.7
, pp. 275-282
-
-
de Vries, P.1
-
35
-
-
84865371057
-
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1
-
Dibble C.C., Elis W., Menon S., Qin W., Klekota J., Asara J.M., Finan P.M., Kwiatkowski D.J., Murphy L.O., Manning B.D. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Molecular Cell 2012, 47:535-546.
-
(2012)
Molecular Cell
, vol.47
, pp. 535-546
-
-
Dibble, C.C.1
Elis, W.2
Menon, S.3
Qin, W.4
Klekota, J.5
Asara, J.M.6
Finan, P.M.7
Kwiatkowski, D.J.8
Murphy, L.O.9
Manning, B.D.10
-
36
-
-
49149088555
-
Reversal of learning deficits in a Tsc2(+/-) mouse model of tuberous sclerosis
-
Ehninger D., Han S., Shilyansky C., Zhou Y., Li W.D., Kwiatkowski D.J., Ramesh V., Silva A.J. Reversal of learning deficits in a Tsc2(+/-) mouse model of tuberous sclerosis. Nature Medicine 2008, 14:843-848.
-
(2008)
Nature Medicine
, vol.14
, pp. 843-848
-
-
Ehninger, D.1
Han, S.2
Shilyansky, C.3
Zhou, Y.4
Li, W.D.5
Kwiatkowski, D.J.6
Ramesh, V.7
Silva, A.J.8
-
37
-
-
51849130466
-
PTEN signaling in brain: neuropathology and tumorigenesis
-
Endersby R., Baker S.J. PTEN signaling in brain: neuropathology and tumorigenesis. Oncogene 2008, 27:5416-5430.
-
(2008)
Oncogene
, vol.27
, pp. 5416-5430
-
-
Endersby, R.1
Baker, S.J.2
-
38
-
-
17644377613
-
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex
-
Ess K.C., Kamp C.A., Tu B.P., Gutmann D.H. Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. Neurology 2005, 64:1446-1449.
-
(2005)
Neurology
, vol.64
, pp. 1446-1449
-
-
Ess, K.C.1
Kamp, C.A.2
Tu, B.P.3
Gutmann, D.H.4
-
39
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
European Chromosome 16 Tuberous Sclerosis Consortium1
-
43
-
-
84856347592
-
Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion
-
Feliciano D.M., Quon J.L., Su T., Taylor M.M., Bordey A. Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion. Human Molecular Genetics 2012, 21:799-810.
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 799-810
-
-
Feliciano, D.M.1
Quon, J.L.2
Su, T.3
Taylor, M.M.4
Bordey, A.5
-
44
-
-
79953296435
-
Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
-
Feliciano D.M., Su T., Lopez J., Platel J.C., Bordey A. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Journal of Clinical Investigation 2011, 121:1596-1607.
-
(2011)
Journal of Clinical Investigation
, vol.121
, pp. 1596-1607
-
-
Feliciano, D.M.1
Su, T.2
Lopez, J.3
Platel, J.C.4
Bordey, A.5
-
45
-
-
33644827461
-
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
-
Franz D.N., Leonard J., Tudor C., Chuck G., Care M., Sethuraman G., Dinopoulos A., Thomas G., Crone K.R. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Annals of Neurology 2006, 59:490-498.
-
(2006)
Annals of Neurology
, vol.59
, pp. 490-498
-
-
Franz, D.N.1
Leonard, J.2
Tudor, C.3
Chuck, G.4
Care, M.5
Sethuraman, G.6
Dinopoulos, A.7
Thomas, G.8
Crone, K.R.9
-
46
-
-
84864917404
-
GABAergic interneuron development and function is modulated by the Tsc1 gene
-
Fu C., Cawthon B., Clinkscales W., Bruce A., Winzenburger P., Ess K.C. GABAergic interneuron development and function is modulated by the Tsc1 gene. Cerebral Cortex 2012, 22:2111-2119.
-
(2012)
Cerebral Cortex
, vol.22
, pp. 2111-2119
-
-
Fu, C.1
Cawthon, B.2
Clinkscales, W.3
Bruce, A.4
Winzenburger, P.5
Ess, K.C.6
-
47
-
-
70449658862
-
Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex
-
Gallagher A., Chu-Shore C.J., Montenegro M.A., Major P., Costello D.J., Lyczkowski D.A., Muzykewicz D., Doherty C., Thiele E.A. Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex. Epilepsy Research 2009, 87:197-202.
-
(2009)
Epilepsy Research
, vol.87
, pp. 197-202
-
-
Gallagher, A.1
Chu-Shore, C.J.2
Montenegro, M.A.3
Major, P.4
Costello, D.J.5
Lyczkowski, D.A.6
Muzykewicz, D.7
Doherty, C.8
Thiele, E.A.9
-
48
-
-
84861049888
-
Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders
-
Gipson T.T., Johnston M.V. Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders. Neural Plasticity 2012.
-
(2012)
Neural Plasticity
-
-
Gipson, T.T.1
Johnston, M.V.2
-
49
-
-
0035663354
-
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients
-
Goedbloed M.A., Nellist M., Verhaaf B., Reuser A.J., Lindhout D., Sunde L., Verhoef S., Halley D.J., van den Ouweland A.M. Analysis of TSC2 stop codon variants found in tuberous sclerosis patients. European Journal of Human Genetics 2001, 9:823-828.
-
(2001)
European Journal of Human Genetics
, vol.9
, pp. 823-828
-
-
Goedbloed, M.A.1
Nellist, M.2
Verhaaf, B.3
Reuser, A.J.4
Lindhout, D.5
Sunde, L.6
Verhoef, S.7
Halley, D.J.8
van den Ouweland, A.M.9
-
50
-
-
37849049287
-
Cognitive deficits in Tsc1(+/-) mice in the absence of cerebral lesions and seizures
-
Goorden S.M.I., van Woerden G.M., van der Weerd L., Cheadle J.P., Elgersma Y. Cognitive deficits in Tsc1(+/-) mice in the absence of cerebral lesions and seizures. Annals of Neurology 2007, 62:648-655.
-
(2007)
Annals of Neurology
, vol.62
, pp. 648-655
-
-
Goorden, S.M.I.1
van Woerden, G.M.2
van der Weerd, L.3
Cheadle, J.P.4
Elgersma, Y.5
-
51
-
-
81055126193
-
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
-
Goto J., Talos D.M., Klein P., Qin W., Chekaluk Y.I., Anderl S., Malinowska I.A., Di Nardo A., Bronson R.T., Chan J.A., Vinters H.V., Kernie S.G., Jensen F.E., Sahin M., Kwiatkowski D.J. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proceedings of the National Academy of Sciences of the United States of America 2011, 108:E1070-E1107.
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
-
-
Goto, J.1
Talos, D.M.2
Klein, P.3
Qin, W.4
Chekaluk, Y.I.5
Anderl, S.6
Malinowska, I.A.7
Di Nardo, A.8
Bronson, R.T.9
Chan, J.A.10
Vinters, H.V.11
Kernie, S.G.12
Jensen, F.E.13
Sahin, M.14
Kwiatkowski, D.J.15
-
52
-
-
34249094507
-
How widespread is adult neurogenesis in mammals?
-
Gould E. How widespread is adult neurogenesis in mammals?. Nature Reviews Neuroscience 2007, 8:481-488.
-
(2007)
Nature Reviews Neuroscience
, vol.8
, pp. 481-488
-
-
Gould, E.1
-
53
-
-
0028289473
-
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
-
Green A.J., Smith M., Yates J.R. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genetics 1994, 6:193-196.
-
(1994)
Nature Genetics
, vol.6
, pp. 193-196
-
-
Green, A.J.1
Smith, M.2
Yates, J.R.3
-
55
-
-
84865525400
-
Chronic inhibition of mammalian target of rapamycin by rapamycin modulates cognitive and non-cognitive components of behavior throughout lifespan in mice
-
Halloran J., Hussong S.A., Burbank R., Podlutskaya N., Fischer K.E., Sloane L.B., Austad S.N., Strong R., Richardson A., Hart M.J., Galvan V. Chronic inhibition of mammalian target of rapamycin by rapamycin modulates cognitive and non-cognitive components of behavior throughout lifespan in mice. Neuroscience 2012, 223:102-113.
-
(2012)
Neuroscience
, vol.223
, pp. 102-113
-
-
Halloran, J.1
Hussong, S.A.2
Burbank, R.3
Podlutskaya, N.4
Fischer, K.E.5
Sloane, L.B.6
Austad, S.N.7
Strong, R.8
Richardson, A.9
Hart, M.J.10
Galvan, V.11
-
56
-
-
0028330166
-
Dendritic spines: cellular specializations imparting both stability and flexibility to synaptic function
-
Harris K.M., Kater S.B. Dendritic spines: cellular specializations imparting both stability and flexibility to synaptic function. Annual Review of Neuroscience 1994, 17:341-371.
-
(1994)
Annual Review of Neuroscience
, vol.17
, pp. 341-371
-
-
Harris, K.M.1
Kater, S.B.2
-
57
-
-
0030725540
-
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors
-
Henske E.P., Wessner L.L., Golden J., Scheithauer B.W., Vortmeyer A.O., Zhuang Z., Klein-Szanto A.J., Kwiatkowski D.J., Yeung R.S. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. American Journal of Pathology 1997, 151:1639-1647.
-
(1997)
American Journal of Pathology
, vol.151
, pp. 1639-1647
-
-
Henske, E.P.1
Wessner, L.L.2
Golden, J.3
Scheithauer, B.W.4
Vortmeyer, A.O.5
Zhuang, Z.6
Klein-Szanto, A.J.7
Kwiatkowski, D.J.8
Yeung, R.S.9
-
58
-
-
0035923594
-
FRAP/mTOR is required for proliferation and patterning during embryonic development in the mouse
-
Hentges K.E., Sirry B., Gingeras A.C., Sarbassov D., Sonenberg N., Sabatini D., Peterson A.S. FRAP/mTOR is required for proliferation and patterning during embryonic development in the mouse. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:13796-13801.
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, pp. 13796-13801
-
-
Hentges, K.E.1
Sirry, B.2
Gingeras, A.C.3
Sarbassov, D.4
Sonenberg, N.5
Sabatini, D.6
Peterson, A.S.7
-
59
-
-
75749114797
-
MTOR signaling: at the crossroads of plasticity, memory and disease
-
Hoeffer C.A., Klann E. mTOR signaling: at the crossroads of plasticity, memory and disease. Trends in Neurosciences 2010, 33:67-75.
-
(2010)
Trends in Neurosciences
, vol.33
, pp. 67-75
-
-
Hoeffer, C.A.1
Klann, E.2
-
60
-
-
57049114322
-
Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior
-
Hoeffer C.A., Tang W., Wong H., Santillan A., Patterson R.J., Martinez L.A., Tejada-Simon M.V., Paylor R., Hamilton S.L., Klann E. Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior. Neuron 2008, 60:832-845.
-
(2008)
Neuron
, vol.60
, pp. 832-845
-
-
Hoeffer, C.A.1
Tang, W.2
Wong, H.3
Santillan, A.4
Patterson, R.J.5
Martinez, L.A.6
Tejada-Simon, M.V.7
Paylor, R.8
Hamilton, S.L.9
Klann, E.10
-
61
-
-
34247164656
-
Tuberous sclerosis complex and epilepsy: recent developments and future challenges
-
Holmes G.L., Stafstrom C.E. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia 2007, 48:617-630.
-
(2007)
Epilepsia
, vol.48
, pp. 617-630
-
-
Holmes, G.L.1
Stafstrom, C.E.2
-
62
-
-
3242724040
-
Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway is required for metabotropic glutamate receptor-dependent long-term depression
-
Hou L., Klann E. Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway is required for metabotropic glutamate receptor-dependent long-term depression. Journal of Neuroscience 2004, 24:6352-6361.
-
(2004)
Journal of Neuroscience
, vol.24
, pp. 6352-6361
-
-
Hou, L.1
Klann, E.2
-
63
-
-
0021743111
-
Fine structure of cortical tubers in tuberous sclerosis: a Golgi study
-
Huttenlocher P.R., Heydemann P.T. Fine structure of cortical tubers in tuberous sclerosis: a Golgi study. Annals of Neurology 1984, 16:595-602.
-
(1984)
Annals of Neurology
, vol.16
, pp. 595-602
-
-
Huttenlocher, P.R.1
Heydemann, P.T.2
-
64
-
-
0043127125
-
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
-
Inoki K., Li Y., Xu T., Guan K.L. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes & Development 2003, 17:1829-1834.
-
(2003)
Genes & Development
, vol.17
, pp. 1829-1834
-
-
Inoki, K.1
Li, Y.2
Xu, T.3
Guan, K.L.4
-
65
-
-
0032052110
-
CT and MR imaging of cerebral tuberous sclerosis
-
Inoue Y., Nemoto Y., Murata R., Tashiro T., Shakudo M., Kohno K., Matsuoka O., Mochizuki K. CT and MR imaging of cerebral tuberous sclerosis. Brain and Development 1998, 20:209-221.
-
(1998)
Brain and Development
, vol.20
, pp. 209-221
-
-
Inoue, Y.1
Nemoto, Y.2
Murata, R.3
Tashiro, T.4
Shakudo, M.5
Kohno, K.6
Matsuoka, O.7
Mochizuki, K.8
-
66
-
-
0025786901
-
Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings
-
Jambaque I., Cusmai R., Curatolo P., Cortesi F., Perrot C., Dulac O. Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings. Developmental Medicine and Child Neurology 1991, 33:698-705.
-
(1991)
Developmental Medicine and Child Neurology
, vol.33
, pp. 698-705
-
-
Jambaque, I.1
Cusmai, R.2
Curatolo, P.3
Cortesi, F.4
Perrot, C.5
Dulac, O.6
-
67
-
-
41149172302
-
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
-
Jansen F.E., Braams O., Vincken K.L., Algra A., Anbeek P., Jennekens-Schinkel A., Halley D., Zonnenberg B.A., van den Ouweland A., van Huffelen A.C., van Nieuwenhuizen O., Nellist M. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 2008, 70:908-915.
-
(2008)
Neurology
, vol.70
, pp. 908-915
-
-
Jansen, F.E.1
Braams, O.2
Vincken, K.L.3
Algra, A.4
Anbeek, P.5
Jennekens-Schinkel, A.6
Halley, D.7
Zonnenberg, B.A.8
van den Ouweland, A.9
van Huffelen, A.C.10
van Nieuwenhuizen, O.11
Nellist, M.12
-
68
-
-
0344440695
-
Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis
-
Jansen F.E., Braun K.P., van Nieuwenhuizen O., Huiskamp G., Vincken K.L., van Huffelen A.C., van der Grond J. Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Archives of Neurology 2003, 60:1580-1584.
-
(2003)
Archives of Neurology
, vol.60
, pp. 1580-1584
-
-
Jansen, F.E.1
Braun, K.P.2
van Nieuwenhuizen, O.3
Huiskamp, G.4
Vincken, K.L.5
van Huffelen, A.C.6
van der Grond, J.7
-
69
-
-
33645019017
-
Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG
-
Jansen F.E., Huiskamp G., van Huffelen A.C., Bourez-Swart M., Boere E., Gebbink T., Vincken K.L., van Nieuwenhuizen O. Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG. Epilepsia 2006, 47:108-114.
-
(2006)
Epilepsia
, vol.47
, pp. 108-114
-
-
Jansen, F.E.1
Huiskamp, G.2
van Huffelen, A.C.3
Bourez-Swart, M.4
Boere, E.5
Gebbink, T.6
Vincken, K.L.7
van Nieuwenhuizen, O.8
-
70
-
-
34547849529
-
Epilepsy surgery in tuberous sclerosis: a systematic review
-
Jansen F.E., van Huffelen A.C., Algra A., van Nieuwenhuizen O. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia 2007, 48:1477-1484.
-
(2007)
Epilepsia
, vol.48
, pp. 1477-1484
-
-
Jansen, F.E.1
van Huffelen, A.C.2
Algra, A.3
van Nieuwenhuizen, O.4
-
71
-
-
14944382348
-
Consistent localization of interictal epileptiform activity on EEGs of patients with tuberous sclerosis complex
-
Jansen F.E., van Huffelen A.C., Bourez-Swart M., van Nieuwenhuizen O. Consistent localization of interictal epileptiform activity on EEGs of patients with tuberous sclerosis complex. Epilepsia 2005, 46:415-419.
-
(2005)
Epilepsia
, vol.46
, pp. 415-419
-
-
Jansen, F.E.1
van Huffelen, A.C.2
Bourez-Swart, M.3
van Nieuwenhuizen, O.4
-
72
-
-
30544449810
-
Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway
-
Jaworski J., Spangler S., Seeburg D.P., Hoogenraad C.C., Sheng M. Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway. Journal of Neuroscience 2005, 25:11300-11312.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 11300-11312
-
-
Jaworski, J.1
Spangler, S.2
Seeburg, D.P.3
Hoogenraad, C.C.4
Sheng, M.5
-
73
-
-
12244298162
-
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
-
Joinson C., O'Callaghan F.J., Osborne J.P., Martyn C., Harris T., Bolton P.F. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychological Medicine 2003, 33:335-344.
-
(2003)
Psychological Medicine
, vol.33
, pp. 335-344
-
-
Joinson, C.1
O'Callaghan, F.J.2
Osborne, J.P.3
Martyn, C.4
Harris, T.5
Bolton, P.F.6
-
74
-
-
37449015440
-
Possible mechanisms of disease development in tuberous sclerosis
-
Jozwiak J., Jozwiak S., Wlodarski P. Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncology 2008, 9:73-79.
-
(2008)
Lancet Oncology
, vol.9
, pp. 73-79
-
-
Jozwiak, J.1
Jozwiak, S.2
Wlodarski, P.3
-
75
-
-
33750097361
-
Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex
-
Jozwiak S., Kotulska K., Kasprzyk-Obara J., Domanska-Pakiela D., Tomyn-Drabik M., Roberts P., Kwiatkowski D. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics 2006, 118:e1146-e1151.
-
(2006)
Pediatrics
, vol.118
-
-
Jozwiak, S.1
Kotulska, K.2
Kasprzyk-Obara, J.3
Domanska-Pakiela, D.4
Tomyn-Drabik, M.5
Roberts, P.6
Kwiatkowski, D.7
-
76
-
-
18244425903
-
Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis
-
Jozwiak S., Kwiatkowski D., Kotulska K., Larysz-Brysz M., Lewin-Kowalik J., Grajkowska W., Roszkowski M. Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. Journal of Child Neurology 2004, 19:102-106.
-
(2004)
Journal of Child Neurology
, vol.19
, pp. 102-106
-
-
Jozwiak, S.1
Kwiatkowski, D.2
Kotulska, K.3
Larysz-Brysz, M.4
Lewin-Kowalik, J.5
Grajkowska, W.6
Roszkowski, M.7
-
77
-
-
74949090816
-
The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development
-
Karbowniczek M., Zitserman D., Khabibullin D., Hartman T., Yu J., Morrison T., Nicolas E., Squillace R., Roegiers F., Henske E.P. The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. Journal of Clinical Investigation 2010, 120:93-102.
-
(2010)
Journal of Clinical Investigation
, vol.120
, pp. 93-102
-
-
Karbowniczek, M.1
Zitserman, D.2
Khabibullin, D.3
Hartman, T.4
Yu, J.5
Morrison, T.6
Nicolas, E.7
Squillace, R.8
Roegiers, F.9
Henske, E.P.10
-
78
-
-
0030925876
-
Improved detection of cortical and subcortical tubers in tuberous sclerosis by fluid-attenuated inversion recovery MRI
-
Kato T., Yamanouchi H., Sugai K., Takashima S. Improved detection of cortical and subcortical tubers in tuberous sclerosis by fluid-attenuated inversion recovery MRI. Neuroradiology 1997, 39:378-380.
-
(1997)
Neuroradiology
, vol.39
, pp. 378-380
-
-
Kato, T.1
Yamanouchi, H.2
Sugai, K.3
Takashima, S.4
-
79
-
-
54949144402
-
The autistic neuron: troubled translation?
-
Kelleher R.J., Bear M.F. The autistic neuron: troubled translation?. Cell 2008, 135:401-406.
-
(2008)
Cell
, vol.135
, pp. 401-406
-
-
Kelleher, R.J.1
Bear, M.F.2
-
80
-
-
80955148928
-
Translational research: Rett syndrome and tuberous sclerosis complex
-
Khwaja O.S., Sahin M. Translational research: Rett syndrome and tuberous sclerosis complex. Current Opinion in Pediatrics 2011, 23:633-639.
-
(2011)
Current Opinion in Pediatrics
, vol.23
, pp. 633-639
-
-
Khwaja, O.S.1
Sahin, M.2
-
81
-
-
13644267037
-
Mammalian SAD kinases are required for neuronal polarization
-
Kishi M., Pan Y.A., Crump J.G., Sanes J.R. Mammalian SAD kinases are required for neuronal polarization. Science 2005, 307:929-932.
-
(2005)
Science
, vol.307
, pp. 929-932
-
-
Kishi, M.1
Pan, Y.A.2
Crump, J.G.3
Sanes, J.R.4
-
82
-
-
38849182213
-
Mechanisms of TSC-mediated control of synapse assembly and axon guidance
-
Knox S., Ge H., Dimitroff B.D., Ren Y., Howe K.A., Arsham A.M., Easterday M.C., Neufeld T.P., O'Connor M.B., Selleck S.B. Mechanisms of TSC-mediated control of synapse assembly and axon guidance. PLoS One 2007, 2:e375.
-
(2007)
PLoS One
, vol.2
-
-
Knox, S.1
Ge, H.2
Dimitroff, B.D.3
Ren, Y.4
Howe, K.A.5
Arsham, A.M.6
Easterday, M.C.7
Neufeld, T.P.8
O'Connor, M.B.9
Selleck, S.B.10
-
83
-
-
0035522894
-
Two genetic hits (more or less) to cancer
-
Knudson A.G. Two genetic hits (more or less) to cancer. Nature Reviews Cancer 2001, 1:157-162.
-
(2001)
Nature Reviews Cancer
, vol.1
, pp. 157-162
-
-
Knudson, A.G.1
-
84
-
-
73449090138
-
Diffusion features of white matter in tuberous sclerosis with tractography
-
Krishnan M.L., Commowick O., Jeste S.S., Weisenfeld N., Hans A., Gregas M.C., Sahin M., Warfield S.K. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatric Neurology 2010, 42:101-106.
-
(2010)
Pediatric Neurology
, vol.42
, pp. 101-106
-
-
Krishnan, M.L.1
Commowick, O.2
Jeste, S.S.3
Weisenfeld, N.4
Hans, A.5
Gregas, M.C.6
Sahin, M.7
Warfield, S.K.8
-
85
-
-
30544442753
-
Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways
-
Kumar V., Zhang M.X., Swank M.W., Kunz J., Wu G.Y. Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways. Journal of Neuroscience 2005, 25:11288-11299.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 11288-11299
-
-
Kumar, V.1
Zhang, M.X.2
Swank, M.W.3
Kunz, J.4
Wu, G.Y.5
-
86
-
-
1542577673
-
Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis
-
Kwiatkowski D.J. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. Cancer Biology and Therapy 2003, 2:471-476.
-
(2003)
Cancer Biology and Therapy
, vol.2
, pp. 471-476
-
-
Kwiatkowski, D.J.1
-
87
-
-
0041758428
-
Tuberous sclerosis: from tubers to mTOR
-
Kwiatkowski D.J. Tuberous sclerosis: from tubers to mTOR. Annals of Human Genetics 2003, 67:87-96.
-
(2003)
Annals of Human Genetics
, vol.67
, pp. 87-96
-
-
Kwiatkowski, D.J.1
-
88
-
-
27744588780
-
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
-
Kwiatkowski D.J., Manning B.D. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Human Molecular Genetics 2005, 14:R251-R258.
-
(2005)
Human Molecular Genetics
, vol.14
-
-
Kwiatkowski, D.J.1
Manning, B.D.2
-
90
-
-
83555178063
-
Imaging and recording subventricular zone progenitor cells in live tissue of postnatal mice
-
Lacar B., Young S.Z., Platel J.-C., Bordey A. Imaging and recording subventricular zone progenitor cells in live tissue of postnatal mice. Frontiers in Neuroscience 2010, 4.
-
(2010)
Frontiers in Neuroscience
, vol.4
-
-
Lacar, B.1
Young, S.Z.2
Platel, J.-C.3
Bordey, A.4
-
91
-
-
84873319061
-
Rheb activation in subventricular zone progenitors leads to heterotopia, ectopic neuronal differentiation, and rapamycin-sensitive olfactory micronodules and dendrite hypertrophy of newborn neurons
-
Lafourcade C.A., Lin T.V., Feliciano D.M., Zhang L., Hsieh L.S., Bordey A. Rheb activation in subventricular zone progenitors leads to heterotopia, ectopic neuronal differentiation, and rapamycin-sensitive olfactory micronodules and dendrite hypertrophy of newborn neurons. Journal of Neuroscience 2013, 33:2419-2431.
-
(2013)
Journal of Neuroscience
, vol.33
, pp. 2419-2431
-
-
Lafourcade, C.A.1
Lin, T.V.2
Feliciano, D.M.3
Zhang, L.4
Hsieh, L.S.5
Bordey, A.6
-
93
-
-
84859778293
-
MTOR signaling in growth control and disease
-
Laplante M., Sabatini D.M. mTOR signaling in growth control and disease. Cell 2012, 149:274-293.
-
(2012)
Cell
, vol.149
, pp. 274-293
-
-
Laplante, M.1
Sabatini, D.M.2
-
94
-
-
74949092824
-
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade
-
Ma J., Meng Y., Kwiatkowski D.J., Chen X., Peng H., Sun Q., Zha X., Wang F., Wang Y., Jing Y., Zhang S., Chen R., Wang L., Wu E., Cai G., Malinowska-Kolodziej I., Liao Q., Liu Y., Zhao Y., et al. Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. Journal of Clinical Investigation 2010, 120:103-114.
-
(2010)
Journal of Clinical Investigation
, vol.120
, pp. 103-114
-
-
Ma, J.1
Meng, Y.2
Kwiatkowski, D.J.3
Chen, X.4
Peng, H.5
Sun, Q.6
Zha, X.7
Wang, F.8
Wang, Y.9
Jing, Y.10
Zhang, S.11
Chen, R.12
Wang, L.13
Wu, E.14
Cai, G.15
Malinowska-Kolodziej, I.16
Liao, Q.17
Liu, Y.18
Zhao, Y.19
-
95
-
-
0021248559
-
Abnormal dendritic patterns and aberrant spine development in Bourneville's disease - a Golgi survey
-
Machado-Salas J.P. Abnormal dendritic patterns and aberrant spine development in Bourneville's disease - a Golgi survey. Clinical Neuropathology 1984, 3:52-58.
-
(1984)
Clinical Neuropathology
, vol.3
, pp. 52-58
-
-
Machado-Salas, J.P.1
-
96
-
-
80755141303
-
Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions
-
Magri L., Cambiaghi M., Cominelli M., Alfaro-Cervello C., Cursi M., Pala M., Bulfone A., Garcia-Verdugo J.M., Leocani L., Minicucci F., Poliani P.L., Galli R. Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell 2011, 9:447-462.
-
(2011)
Cell Stem Cell
, vol.9
, pp. 447-462
-
-
Magri, L.1
Cambiaghi, M.2
Cominelli, M.3
Alfaro-Cervello, C.4
Cursi, M.5
Pala, M.6
Bulfone, A.7
Garcia-Verdugo, J.M.8
Leocani, L.9
Minicucci, F.10
Poliani, P.L.11
Galli, R.12
-
97
-
-
58149250332
-
Are cortical tubers epileptogenic? Evidence from electrocorticography
-
Major P., Rakowski S., Simon M.V., Cheng M.L., Eskandar E., Baron J., Leeman B.A., Frosch M.P., Thiele E.A. Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia 2009, 50:147-154.
-
(2009)
Epilepsia
, vol.50
, pp. 147-154
-
-
Major, P.1
Rakowski, S.2
Simon, M.V.3
Cheng, M.L.4
Eskandar, E.5
Baron, J.6
Leeman, B.A.7
Frosch, M.P.8
Thiele, E.A.9
-
98
-
-
3042850661
-
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
-
Mayer K., Goedbloed M., van Zijl K., Nellist M., Rott H.D. Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis. Journal of Medical Genetics 2004, 41:e64.
-
(2004)
Journal of Medical Genetics
, vol.41
-
-
Mayer, K.1
Goedbloed, M.2
van Zijl, K.3
Nellist, M.4
Rott, H.D.5
-
99
-
-
84868592137
-
Impaired autophagy in neurons after disinhibition of mammalian target of rapamycin and its contribution to epileptogenesis
-
McMahon J., Huang X., Yang J., Komatsu M., Yue Z., Qian J., Zhu X., Huang Y. Impaired autophagy in neurons after disinhibition of mammalian target of rapamycin and its contribution to epileptogenesis. Journal of Neuroscience 2012, 32:15704-15714.
-
(2012)
Journal of Neuroscience
, vol.32
, pp. 15704-15714
-
-
McMahon, J.1
Huang, X.2
Yang, J.3
Komatsu, M.4
Yue, Z.5
Qian, J.6
Zhu, X.7
Huang, Y.8
-
100
-
-
45849110311
-
Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
-
Meikle L., Pollizzi K., Egnor A., Kramvis I., Lane H., Sahin M., Kwiatkowski D.J. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. Journal of Neuroscience 2008, 28:5422-5432.
-
(2008)
Journal of Neuroscience
, vol.28
, pp. 5422-5432
-
-
Meikle, L.1
Pollizzi, K.2
Egnor, A.3
Kramvis, I.4
Lane, H.5
Sahin, M.6
Kwiatkowski, D.J.7
-
101
-
-
34250626014
-
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
-
Meikle L., Talos D.M., Onda H., Pollizzi K., Rotenberg A., Sahin M., Jensen F.E., Kwiatkowski D.J. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Journal of Neuroscience 2007, 27:5546-5558.
-
(2007)
Journal of Neuroscience
, vol.27
, pp. 5546-5558
-
-
Meikle, L.1
Talos, D.M.2
Onda, H.3
Pollizzi, K.4
Rotenberg, A.5
Sahin, M.6
Jensen, F.E.7
Kwiatkowski, D.J.8
-
102
-
-
33846807874
-
Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex
-
Mizuguchi M. Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex. Congenital Anomalies 2007, 47:2-8.
-
(2007)
Congenital Anomalies
, vol.47
, pp. 2-8
-
-
Mizuguchi, M.1
-
104
-
-
65649090185
-
Identification of cAMP-dependent kinase as a third in vivo ribosomal protein S6 kinase in pancreatic beta-cells
-
Moore C.E., Xie J., Gomez E., Herbert T.P. Identification of cAMP-dependent kinase as a third in vivo ribosomal protein S6 kinase in pancreatic beta-cells. Journal of Molecular Biology 2009, 389:480-494.
-
(2009)
Journal of Molecular Biology
, vol.389
, pp. 480-494
-
-
Moore, C.E.1
Xie, J.2
Gomez, E.3
Herbert, T.P.4
-
105
-
-
84861200515
-
Decreased benzodiazepine receptor and increased GABA level in cortical tubers in tuberous sclerosis complex
-
Mori K., Mori T., Toda Y., Fujii E., Miyazaki M., Harada M., Kagami S. Decreased benzodiazepine receptor and increased GABA level in cortical tubers in tuberous sclerosis complex. Brain and Development 2012, 34:478-486.
-
(2012)
Brain and Development
, vol.34
, pp. 478-486
-
-
Mori, K.1
Mori, T.2
Toda, Y.3
Fujii, E.4
Miyazaki, M.5
Harada, M.6
Kagami, S.7
-
106
-
-
70350455151
-
Specification of neuronal polarity regulated by local translation of CRMP2 and Tau via the mTOR-p70S6K pathway
-
Morita T., Sobue K. Specification of neuronal polarity regulated by local translation of CRMP2 and Tau via the mTOR-p70S6K pathway. Journal of Biological Chemistry 2009, 284:27734-27745.
-
(2009)
Journal of Biological Chemistry
, vol.284
, pp. 27734-27745
-
-
Morita, T.1
Sobue, K.2
-
107
-
-
34547138684
-
Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex
-
Nakashima A., Yoshino K., Miyamoto T., Eguchi S., Oshiro N., Kikkawa U., Yonezawa K. Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex. Biochemical and Biophysical Research Communications 2007, 361:218-223.
-
(2007)
Biochemical and Biophysical Research Communications
, vol.361
, pp. 218-223
-
-
Nakashima, A.1
Yoshino, K.2
Miyamoto, T.3
Eguchi, S.4
Oshiro, N.5
Kikkawa, U.6
Yonezawa, K.7
-
108
-
-
75549085357
-
Tsc2-Rheb signaling regulates EphA-mediated axon guidance
-
Nie D., Di Nardo A., Han J.M., Baharanyi H., Kramvis I., Huynh T., Dabora S., Codeluppi S., Pandolfi P.P., Pasquale E.B., Sahin M. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nature Neuroscience 2010, 13:163-172.
-
(2010)
Nature Neuroscience
, vol.13
, pp. 163-172
-
-
Nie, D.1
Di Nardo, A.2
Han, J.M.3
Baharanyi, H.4
Kramvis, I.5
Huynh, T.6
Dabora, S.7
Codeluppi, S.8
Pandolfi, P.P.9
Pasquale, E.B.10
Sahin, M.11
-
109
-
-
0032537401
-
Prevalence of tuberous sclerosis estimated by capture-recapture analysis
-
O'Callaghan F.J., Shiell A.W., Osborne J.P., Martyn C.N. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 1998, 351:1490.
-
(1998)
Lancet
, vol.351
, pp. 1490
-
-
O'Callaghan, F.J.1
Shiell, A.W.2
Osborne, J.P.3
Martyn, C.N.4
-
110
-
-
2642525301
-
The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
-
O'Callaghan F.J.K., Harris T., Joinson C., Bolton P., Noakes M., Presdee D., Renowden S., Shiell A., Martyn C.N., Osborne J.P. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Archives of Disease in Childhood 2004, 89:530-533.
-
(2004)
Archives of Disease in Childhood
, vol.89
, pp. 530-533
-
-
O'Callaghan, F.J.K.1
Harris, T.2
Joinson, C.3
Bolton, P.4
Noakes, M.5
Presdee, D.6
Renowden, S.7
Shiell, A.8
Martyn, C.N.9
Osborne, J.P.10
-
112
-
-
12144288765
-
Terminology and classification of the cortical dysplasias
-
Palmini A., Najm I., Avanzini G., Babb T., Guerrini R., Foldvary-Schaefer N., Jackson G., Luders H.O., Prayson R., Spreafico R., Vinters H.V. Terminology and classification of the cortical dysplasias. Neurology 2004, 62:S2-S8.
-
(2004)
Neurology
, vol.62
-
-
Palmini, A.1
Najm, I.2
Avanzini, G.3
Babb, T.4
Guerrini, R.5
Foldvary-Schaefer, N.6
Jackson, G.7
Luders, H.O.8
Prayson, R.9
Spreafico, R.10
Vinters, H.V.11
-
113
-
-
77649339173
-
A symphony of signals conducts early and late stages of adult neurogenesis
-
Pathania M., Yan L.D., Bordey A. A symphony of signals conducts early and late stages of adult neurogenesis. Neuropharmacology 2010, 58:865-876.
-
(2010)
Neuropharmacology
, vol.58
, pp. 865-876
-
-
Pathania, M.1
Yan, L.D.2
Bordey, A.3
-
114
-
-
77956275001
-
Activation of mammalian target of rapamycin signaling in spatial learning
-
Qi S., Mizuno M., Yonezawa K., Nawa H., Takei N. Activation of mammalian target of rapamycin signaling in spatial learning. Neuroscience Research 2010, 68:88-93.
-
(2010)
Neuroscience Research
, vol.68
, pp. 88-93
-
-
Qi, S.1
Mizuno, M.2
Yonezawa, K.3
Nawa, H.4
Takei, N.5
-
115
-
-
80052825235
-
Angiomyolipoma have common mutations in TSC2 but no other common genetic events
-
Qin W., Bajaj V., Malinowska I., Lu X., MacConaill L., Wu C.L., Kwiatkowski D.J. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One 2011, 6:e24919.
-
(2011)
PLoS One
, vol.6
-
-
Qin, W.1
Bajaj, V.2
Malinowska, I.3
Lu, X.4
MacConaill, L.5
Wu, C.L.6
Kwiatkowski, D.J.7
-
116
-
-
78449298516
-
Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events
-
Qin W., Chan J.A., Vinters H.V., Mathern G.W., Franz D.N., Taillon B.E., Bouffard P., Kwiatkowski D.J. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathology 2010, 20:1096-1105.
-
(2010)
Brain Pathology
, vol.20
, pp. 1096-1105
-
-
Qin, W.1
Chan, J.A.2
Vinters, H.V.3
Mathern, G.W.4
Franz, D.N.5
Taillon, B.E.6
Bouffard, P.7
Kwiatkowski, D.J.8
-
117
-
-
34547143034
-
Biological markers of intellectual disability in tuberous sclerosis
-
Raznahan A., Higgins N.P., Griffiths P.D., Humphrey A., Yates J.R.W., Bolton P.F. Biological markers of intellectual disability in tuberous sclerosis. Psychological Medicine 2007, 37:1293-1304.
-
(2007)
Psychological Medicine
, vol.37
, pp. 1293-1304
-
-
Raznahan, A.1
Higgins, N.P.2
Griffiths, P.D.3
Humphrey, A.4
Yates, J.R.W.5
Bolton, P.F.6
-
118
-
-
79952032711
-
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model
-
Ricciardi S., Boggio E.M., Grosso S., Lonetti G., Forlani G., Stefanelli G., Calcagno E., Morello N., Landsberger N., Biffo S., Pizzorusso T., Giustetto M., Broccoli V. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Human Molecular Genetics 2011, 20:1182-1196.
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 1182-1196
-
-
Ricciardi, S.1
Boggio, E.M.2
Grosso, S.3
Lonetti, G.4
Forlani, G.5
Stefanelli, G.6
Calcagno, E.7
Morello, N.8
Landsberger, N.9
Biffo, S.10
Pizzorusso, T.11
Giustetto, M.12
Broccoli, V.13
-
119
-
-
8844246389
-
Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex
-
Ridler K., Suckling J., Higgins N., Bolton P., Bullmore E. Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex. Journal of Child Neurology 2004, 19:658-665.
-
(2004)
Journal of Child Neurology
, vol.19
, pp. 658-665
-
-
Ridler, K.1
Suckling, J.2
Higgins, N.3
Bolton, P.4
Bullmore, E.5
-
120
-
-
3042842685
-
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
-
Roberts P.S., Dabora S., Thiele E.A., Franz D.N., Jozwiak S., Kwiatkowski D.J. Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. Journal of Medical Genetics 2004, 41:e69.
-
(2004)
Journal of Medical Genetics
, vol.41
-
-
Roberts, P.S.1
Dabora, S.2
Thiele, E.A.3
Franz, D.N.4
Jozwiak, S.5
Kwiatkowski, D.J.6
-
121
-
-
0033358599
-
Germ-line mosaicism in tuberous sclerosis: how common?
-
Rose V.M., Au K.S., Pollom G., Roach E.S., Prashner H.R., Northrup H. Germ-line mosaicism in tuberous sclerosis: how common?. American Journal of Human Genetics 1999, 64:986-992.
-
(1999)
American Journal of Human Genetics
, vol.64
, pp. 986-992
-
-
Rose, V.M.1
Au, K.S.2
Pollom, G.3
Roach, E.S.4
Prashner, H.R.5
Northrup, H.6
-
122
-
-
0036707804
-
Cyst-like cerebral lesions in tuberous sclerosis
-
Rott H.D., Lemcke B., Zenker M., Huk W., Horst J., Mayer K. Cyst-like cerebral lesions in tuberous sclerosis. American Journal of Medical Genetics 2002, 111:435-439.
-
(2002)
American Journal of Medical Genetics
, vol.111
, pp. 435-439
-
-
Rott, H.D.1
Lemcke, B.2
Zenker, M.3
Huk, W.4
Horst, J.5
Mayer, K.6
-
123
-
-
34347242470
-
RAS/ERK signaling promotes site-specific ribosomal protein S6 phosphorylation via RSK and stimulates cap-dependent translation
-
Roux P.P., Shahbazian D., Vu H., Holz M.K., Cohen M.S., Taunton J., Sonenberg N., Blenis J. RAS/ERK signaling promotes site-specific ribosomal protein S6 phosphorylation via RSK and stimulates cap-dependent translation. Journal of Biological Chemistry 2007, 282:14056-14064.
-
(2007)
Journal of Biological Chemistry
, vol.282
, pp. 14056-14064
-
-
Roux, P.P.1
Shahbazian, D.2
Vu, H.3
Holz, M.K.4
Cohen, M.S.5
Taunton, J.6
Sonenberg, N.7
Blenis, J.8
-
124
-
-
0028040522
-
The molecular genetics of tuberous sclerosis
-
Sampson J.R., Harris P.C. The molecular genetics of tuberous sclerosis. Human Molecular Genetics 1994, 3 Spec No.:1477-1480.
-
(1994)
Human Molecular Genetics
, pp. 1477-1480
-
-
Sampson, J.R.1
Harris, P.C.2
-
125
-
-
20544431744
-
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
-
Sancak O., Nellist M., Goedbloed M., Elfferich P., Wouters C., Maat-Kievit A., Zonnenberg B., Verhoef S., Halley D., van den Ouweland A. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. European Journal of Human Genetics 2005, 13:731-741.
-
(2005)
European Journal of Human Genetics
, vol.13
, pp. 731-741
-
-
Sancak, O.1
Nellist, M.2
Goedbloed, M.3
Elfferich, P.4
Wouters, C.5
Maat-Kievit, A.6
Zonnenberg, B.7
Verhoef, S.8
Halley, D.9
van den Ouweland, A.10
-
126
-
-
84871765155
-
Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex
-
Sato A., Kasai S., Kobayashi T., Takamatsu Y., Hino O., Ikeda K., Mizuguchi M. Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex. Nature Communications 2012, 3:1292.
-
(2012)
Nature Communications
, vol.3
, pp. 1292
-
-
Sato, A.1
Kasai, S.2
Kobayashi, T.3
Takamatsu, Y.4
Hino, O.5
Ikeda, K.6
Mizuguchi, M.7
-
127
-
-
67649823420
-
Specific activation of mTORC1 by Rheb G-protein in vitro involves enhanced recruitment of its substrate protein
-
Sato T., Nakashima A., Guo L., Tamanoi F. Specific activation of mTORC1 by Rheb G-protein in vitro involves enhanced recruitment of its substrate protein. Journal of Biological Chemistry 2009, 284:12783-12791.
-
(2009)
Journal of Biological Chemistry
, vol.284
, pp. 12783-12791
-
-
Sato, T.1
Nakashima, A.2
Guo, L.3
Tamanoi, F.4
-
128
-
-
0025821236
-
Expression of highly polysialylated NCAM in the neocortex and piriform cortex of the developing and the adult rat
-
Seki T., Arai Y. Expression of highly polysialylated NCAM in the neocortex and piriform cortex of the developing and the adult rat. Anatomy and Embryology 1991, 184:395-401.
-
(1991)
Anatomy and Embryology
, vol.184
, pp. 395-401
-
-
Seki, T.1
Arai, Y.2
-
130
-
-
0035804770
-
Efficient in utero gene transfer system to the developing mouse brain using electroporation: visualization of neuronal migration in the developing cortex
-
Tabata H., Nakajima K. Efficient in utero gene transfer system to the developing mouse brain using electroporation: visualization of neuronal migration in the developing cortex. Neuroscience 2001, 103:865-872.
-
(2001)
Neuroscience
, vol.103
, pp. 865-872
-
-
Tabata, H.1
Nakajima, K.2
-
131
-
-
42949138696
-
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers
-
Talos D.M., Kwiatkowski D.J., Cordero K., Black P.M., Jensen F.E. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Annals of Neurology 2008, 63:454-465.
-
(2008)
Annals of Neurology
, vol.63
, pp. 454-465
-
-
Talos, D.M.1
Kwiatkowski, D.J.2
Cordero, K.3
Black, P.M.4
Jensen, F.E.5
-
132
-
-
0037039358
-
A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
-
Tang S.J., Reis G., Kang H., Gingras A.C., Sonenberg N., Schuman E.M. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proceedings of the National Academy of Sciences of the United States of America 2002, 99:467-472.
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, pp. 467-472
-
-
Tang, S.J.1
Reis, G.2
Kang, H.3
Gingras, A.C.4
Sonenberg, N.5
Schuman, E.M.6
-
133
-
-
0031320809
-
Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases
-
Taraszewska A., Kroh H., Majchrowski A. Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. Folia Neuropathologica 1997, 35:181-186.
-
(1997)
Folia Neuropathologica
, vol.35
, pp. 181-186
-
-
Taraszewska, A.1
Kroh, H.2
Majchrowski, A.3
-
134
-
-
28044456974
-
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
-
Tavazoie S.F., Alvarez V.A., Ridenour D.A., Kwiatkowski D.J., Sabatini B.L. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nature Neuroscience 2005, 8:1727-1734.
-
(2005)
Nature Neuroscience
, vol.8
, pp. 1727-1734
-
-
Tavazoie, S.F.1
Alvarez, V.A.2
Ridenour, D.A.3
Kwiatkowski, D.J.4
Sabatini, B.L.5
-
135
-
-
0037108750
-
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling
-
Tee A.R., Fingar D.C., Manning B.D., Kwiatkowski D.J., Cantley L.C., Blenis J. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proceedings of the National Academy of Sciences of the United States of America 2002, 99:13571-13576.
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, pp. 13571-13576
-
-
Tee, A.R.1
Fingar, D.C.2
Manning, B.D.3
Kwiatkowski, D.J.4
Cantley, L.C.5
Blenis, J.6
-
136
-
-
84865508373
-
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
-
Tsai P.T., Hull C., Chu Y., Greene-Colozzi E., Sadowski A.R., Leech J.M., Steinberg J., Crawley J.N., Regehr W.G., Sahin M. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012, 488:647-651.
-
(2012)
Nature
, vol.488
, pp. 647-651
-
-
Tsai, P.T.1
Hull, C.2
Chu, Y.3
Greene-Colozzi, E.4
Sadowski, A.R.5
Leech, J.M.6
Steinberg, J.7
Crawley, J.N.8
Regehr, W.G.9
Sahin, M.10
-
137
-
-
85007561272
-
Tuberous sclerosis complex: genetic basis and management strategies
-
Tsai V., Crino P. Tuberous sclerosis complex: genetic basis and management strategies. Advances in Genomics and Genetics 2012, 2:19-31.
-
(2012)
Advances in Genomics and Genetics
, vol.2
, pp. 19-31
-
-
Tsai, V.1
Crino, P.2
-
138
-
-
84875652288
-
Fetal brain mTOR signaling activation in tuberous sclerosis complex
-
in press (Epub ahead of print)
-
Tsai V., Parker W.E., Orlova K.A., Baybis M., Chi A.W.S., Berg B.D., Birnbaum J.F., Estevez J., Okochi K., Sarnat H.B., Flores-Sarnat L., Aronica E., Crino P.B. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cerebral Cortex 2012, in press (Epub ahead of print).
-
(2012)
Cerebral Cortex
-
-
Tsai, V.1
Parker, W.E.2
Orlova, K.A.3
Baybis, M.4
Chi, A.W.S.5
Berg, B.D.6
Birnbaum, J.F.7
Estevez, J.8
Okochi, K.9
Sarnat, H.B.10
Flores-Sarnat, L.11
Aronica, E.12
Crino, P.B.13
-
139
-
-
0036713644
-
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures
-
Uhlmann E.J., Wong M., Baldwin R.L., Bajenaru M.L., Onda H., Kwiatkowski D.J., Yamada K., Gutmann D.H. Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Annals of Neurology 2002, 52:285-296.
-
(2002)
Annals of Neurology
, vol.52
, pp. 285-296
-
-
Uhlmann, E.J.1
Wong, M.2
Baldwin, R.L.3
Bajenaru, M.L.4
Onda, H.5
Kwiatkowski, D.J.6
Yamada, K.7
Gutmann, D.H.8
-
140
-
-
84865761062
-
Mammalian Target of Rapamycin Complex 1 (mTORC1) and 2 (mTORC2) control the dendritic arbor morphology of hippocampal neurons
-
Urbanska M., Gozdz A., Swiech L.J., Jaworski J. Mammalian Target of Rapamycin Complex 1 (mTORC1) and 2 (mTORC2) control the dendritic arbor morphology of hippocampal neurons. Journal of Biological Chemistry 2012, 287:30240-30256.
-
(2012)
Journal of Biological Chemistry
, vol.287
, pp. 30240-30256
-
-
Urbanska, M.1
Gozdz, A.2
Swiech, L.J.3
Jaworski, J.4
-
141
-
-
84872535697
-
Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach
-
van Eeghen A.M., Pulsifer M.B., Merker V.L., Neumeyer A.M., van Eeghen E.E., Thibert R.L., Cole A.J., Leigh F.A., Plotkin S.R., Thiele E.A. Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Developmental Medicine & Child Neurology 2012, 55:146-153.
-
(2012)
Developmental Medicine & Child Neurology
, vol.55
, pp. 146-153
-
-
van Eeghen, A.M.1
Pulsifer, M.B.2
Merker, V.L.3
Neumeyer, A.M.4
van Eeghen, E.E.5
Thibert, R.L.6
Cole, A.J.7
Leigh, F.A.8
Plotkin, S.R.9
Thiele, E.A.10
-
142
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M., de Hoogt R., Hermans C., Nellist M., Janssen B., Verhoef S., Lindhout D., van den Ouweland A., Halley D., Young J., Burley M., Jeremiah S., Woodward K., Nahmias J., Fox M., Ekong R., Osborne J., Wolfe J., Povey S., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997, 277:805-808.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
van Slegtenhorst, M.1
de Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
van den Ouweland, A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
-
143
-
-
0033361939
-
High rate of mosaicism in tuberous sclerosis complex
-
Verhoef S., Bakker L., Tempelaars A.M., Hesseling-Janssen A.L., Mazurczak T., Jozwiak S., Fois A., Bartalini G., Zonnenberg B.A., van Essen A.J., Lindhout D., Halley D.J., van den Ouweland A.M. High rate of mosaicism in tuberous sclerosis complex. American Journal of Human Genetics 1999, 64:1632-1637.
-
(1999)
American Journal of Human Genetics
, vol.64
, pp. 1632-1637
-
-
Verhoef, S.1
Bakker, L.2
Tempelaars, A.M.3
Hesseling-Janssen, A.L.4
Mazurczak, T.5
Jozwiak, S.6
Fois, A.7
Bartalini, G.8
Zonnenberg, B.A.9
van Essen, A.J.10
Lindhout, D.11
Halley, D.J.12
van den Ouweland, A.M.13
-
144
-
-
0031985049
-
Recurrent mutation 4882TT in the GAP-related domain of the tuberous sclerosis TSC2 gene
-
Verhoef S., Vrtel R., Bakker L., Stolte-Dijkstra I., Nellist M., Begeer J.H., Zaremba J., Jozwiak S., Tempelaars A.M., Lindhout D., Halley D.J., van den Ouweland A.M. Recurrent mutation 4882TT in the GAP-related domain of the tuberous sclerosis TSC2 gene. Human Mutation 1998, (Suppl. 1):S85-S87.
-
(1998)
Human Mutation
, Issue.SUPPL. 1
-
-
Verhoef, S.1
Vrtel, R.2
Bakker, L.3
Stolte-Dijkstra, I.4
Nellist, M.5
Begeer, J.H.6
Zaremba, J.7
Jozwiak, S.8
Tempelaars, A.M.9
Lindhout, D.10
Halley, D.J.11
van den Ouweland, A.M.12
-
145
-
-
33644953843
-
Impaired synaptic plasticity in a rat model of tuberous sclerosis
-
von der Brelie C., Waltereit R., Zhang L., Beck H., Kirschstein T. Impaired synaptic plasticity in a rat model of tuberous sclerosis. European Journal of Neuroscience 2006, 23:686-692.
-
(2006)
European Journal of Neuroscience
, vol.23
, pp. 686-692
-
-
von der Brelie, C.1
Waltereit, R.2
Zhang, L.3
Beck, H.4
Kirschstein, T.5
-
146
-
-
19144372534
-
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
-
Vrtel R., Verhoef S., Bouman K., Maheshwar M.M., Nellist M., van Essen A.J., Bakker P.L., Hermans C.J., Bink-Boelkens M.T., van Elburg R.M., Hoff M., Lindhout D., Sampson J., Halley D.J., van den Ouweland A.M. Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. Journal of Medical Genetics 1996, 33:47-51.
-
(1996)
Journal of Medical Genetics
, vol.33
, pp. 47-51
-
-
Vrtel, R.1
Verhoef, S.2
Bouman, K.3
Maheshwar, M.M.4
Nellist, M.5
van Essen, A.J.6
Bakker, P.L.7
Hermans, C.J.8
Bink-Boelkens, M.T.9
van Elburg, R.M.10
Hoff, M.11
Lindhout, D.12
Sampson, J.13
Halley, D.J.14
van den Ouweland, A.M.15
-
148
-
-
33644873636
-
Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis
-
Waltereit R., Welzl H., Dichgans J., Lipp H.P., Schmidt W.J., Weller M. Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis. Journal of Neurochemistry 2006, 96:407-413.
-
(2006)
Journal of Neurochemistry
, vol.96
, pp. 407-413
-
-
Waltereit, R.1
Welzl, H.2
Dichgans, J.3
Lipp, H.P.4
Schmidt, W.J.5
Weller, M.6
-
149
-
-
33847652935
-
Neocortical hyperexcitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression of TSC1
-
Wang Y., Greenwood J.S.F., Calcagnotto M.E., Kirsch H.E., Barbaro N.M., Baraban S.C. Neocortical hyperexcitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression of TSC1. Annals of Neurology 2007, 61:139-152.
-
(2007)
Annals of Neurology
, vol.61
, pp. 139-152
-
-
Wang, Y.1
Greenwood, J.S.F.2
Calcagnotto, M.E.3
Kirsch, H.E.4
Barbaro, N.M.5
Baraban, S.C.6
-
150
-
-
63149114250
-
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
-
Way S.W., McKenna J., Mietzsch U., Reith R.M., Wu H.C., Gambello M.J. Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. Human Molecular Genetics 2009, 18:1252-1265.
-
(2009)
Human Molecular Genetics
, vol.18
, pp. 1252-1265
-
-
Way, S.W.1
McKenna, J.2
Mietzsch, U.3
Reith, R.M.4
Wu, H.C.5
Gambello, M.J.6
-
151
-
-
84863998210
-
The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex
-
Way S.W., Rozas N.S., Wu H.C., McKenna J., Reith R.M., Hashmi S.S., Dash P.K., Gambello M.J. The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex. Human Molecular Genetics 2012, 21:3226-3236.
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 3226-3236
-
-
Way, S.W.1
Rozas, N.S.2
Wu, H.C.3
McKenna, J.4
Reith, R.M.5
Hashmi, S.S.6
Dash, P.K.7
Gambello, M.J.8
-
152
-
-
0034475191
-
Autism and the cerebellum: evidence from tuberous sclerosis
-
Weber A.M., Egelhoff J.C., McKellop J.M., Franz D.N. Autism and the cerebellum: evidence from tuberous sclerosis. Journal of Autism and Developmental Disorders 2000, 30:511-517.
-
(2000)
Journal of Autism and Developmental Disorders
, vol.30
, pp. 511-517
-
-
Weber, A.M.1
Egelhoff, J.C.2
McKellop, J.M.3
Franz, D.N.4
-
153
-
-
77951298409
-
Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex
-
Widjaja E., Simao G., Mahmoodabadi S.Z., Ochi A., Snead O.C., Rutka J., Otsubo H. Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex. Epilepsy Research 2010, 89:246-253.
-
(2010)
Epilepsy Research
, vol.89
, pp. 246-253
-
-
Widjaja, E.1
Simao, G.2
Mahmoodabadi, S.Z.3
Ochi, A.4
Snead, O.C.5
Rutka, J.6
Otsubo, H.7
-
154
-
-
37549016789
-
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
-
Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia 2008, 49:8-21.
-
(2008)
Epilepsia
, vol.49
, pp. 8-21
-
-
Wong, M.1
-
155
-
-
84864300410
-
A Tuber-ful animal model of tuberous sclerosis at last?
-
Wong M. A Tuber-ful animal model of tuberous sclerosis at last?. Epilepsy Currents 2012, 12:15-16.
-
(2012)
Epilepsy Currents
, vol.12
, pp. 15-16
-
-
Wong, M.1
-
156
-
-
84862310763
-
Tuberous sclerosis and epilepsy: role of astrocytes
-
Wong M., Crino P.B. Tuberous sclerosis and epilepsy: role of astrocytes. Glia 2012, 60:1244-1250.
-
(2012)
Glia
, vol.60
, pp. 1244-1250
-
-
Wong, M.1
Crino, P.B.2
-
157
-
-
39749111979
-
Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature
-
Wortmann S.B., Reimer A., Creemers J.W., Mullaart R.A. Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature. European Journal of Paediatric Neurology 2008, 12:123-126.
-
(2008)
European Journal of Paediatric Neurology
, vol.12
, pp. 123-126
-
-
Wortmann, S.B.1
Reimer, A.2
Creemers, J.W.3
Mullaart, R.A.4
-
158
-
-
0031059208
-
Giant cells in cortical tubers in tuberous sclerosis showing synaptophysin-immunoreactive halos
-
Yamanouchi H., Ho M., Jay V., Becker L.E. Giant cells in cortical tubers in tuberous sclerosis showing synaptophysin-immunoreactive halos. Brain and Development 1997, 19:21-24.
-
(1997)
Brain and Development
, vol.19
, pp. 21-24
-
-
Yamanouchi, H.1
Ho, M.2
Jay, V.3
Becker, L.E.4
-
159
-
-
0030954850
-
Evidence of abnormal differentiation in giant cells of tuberous sclerosis
-
Yamanouchi H., Jay V., Rutka J.T., Takashima S., Becker L.E. Evidence of abnormal differentiation in giant cells of tuberous sclerosis. Pediatric Neurology 1997, 17:49-53.
-
(1997)
Pediatric Neurology
, vol.17
, pp. 49-53
-
-
Yamanouchi, H.1
Jay, V.2
Rutka, J.T.3
Takashima, S.4
Becker, L.E.5
-
160
-
-
84866354915
-
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
-
Yuan E., Tsai P.T., Greene-Colozzi E., Sahin M., Kwiatkowski D.J., Malinowska I.A. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Human Molecular Genetics 2012, 21:4286-4300.
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 4286-4300
-
-
Yuan, E.1
Tsai, P.T.2
Greene-Colozzi, E.3
Sahin, M.4
Kwiatkowski, D.J.5
Malinowska, I.A.6
-
161
-
-
35348950503
-
Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex
-
Zeng L.-H., Ouyang Y., Gazit V., Cirrito J.R., Jansen L.A., Ess K.C., Yamada K.A., Wozniak D.F., Holtzman D.M., Gutmann D.H., Wong M. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiology of Disease 2007, 28:184-196.
-
(2007)
Neurobiology of Disease
, vol.28
, pp. 184-196
-
-
Zeng, L.-H.1
Ouyang, Y.2
Gazit, V.3
Cirrito, J.R.4
Jansen, L.A.5
Ess, K.C.6
Yamada, K.A.7
Wozniak, D.F.8
Holtzman, D.M.9
Gutmann, D.H.10
Wong, M.11
-
162
-
-
66149169973
-
The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy
-
Zeng L.H., Rensing N.R., Wong M. The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy. Journal of Neuroscience 2009, 29:6964-6972.
-
(2009)
Journal of Neuroscience
, vol.29
, pp. 6964-6972
-
-
Zeng, L.H.1
Rensing, N.R.2
Wong, M.3
-
163
-
-
84862776902
-
Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat
-
Zhang B., Wong M. Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat. Epilepsia 2012, 53:506-511.
-
(2012)
Epilepsia
, vol.53
, pp. 506-511
-
-
Zhang, B.1
Wong, M.2
-
164
-
-
0038141979
-
Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
-
Zhang Y., Gao X., Saucedo L.J., Ru B., Edgar B.A., Pan D. Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nature Cell Biology 2003, 5:578-581.
-
(2003)
Nature Cell Biology
, vol.5
, pp. 578-581
-
-
Zhang, Y.1
Gao, X.2
Saucedo, L.J.3
Ru, B.4
Edgar, B.A.5
Pan, D.6
-
165
-
-
80051495791
-
Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle
-
Zhou J., Shrikhande G., Xu J., McKay R.M., Burns D.K., Johnson J.E., Parada L.F. Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle. Genes & Development 2011, 25:1595-1600.
-
(2011)
Genes & Development
, vol.25
, pp. 1595-1600
-
-
Zhou, J.1
Shrikhande, G.2
Xu, J.3
McKay, R.M.4
Burns, D.K.5
Johnson, J.E.6
Parada, L.F.7
-
166
-
-
84865217428
-
Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects
-
Zhu G., Chow L.M., Bayazitov I.T., Tong Y., Gilbertson R.J., Zakharenko S.S., Solecki D.J., Baker S.J. Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects. Development 2012, 139:3422-3431.
-
(2012)
Development
, vol.139
, pp. 3422-3431
-
-
Zhu, G.1
Chow, L.M.2
Bayazitov, I.T.3
Tong, Y.4
Gilbertson, R.J.5
Zakharenko, S.S.6
Solecki, D.J.7
Baker, S.J.8
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