-
1
-
-
84874683722
-
The costs of autism
-
Taylor & Francis, S.O. Moldin, J.L.R. Rubenstein (Eds.)
-
Ganz M. The costs of autism. Understanding Autism: From Basic Neuroscience to Treatment 2006, 475-502. Taylor & Francis. S.O. Moldin, J.L.R. Rubenstein (Eds.).
-
(2006)
Understanding Autism: From Basic Neuroscience to Treatment
, pp. 475-502
-
-
Ganz, M.1
-
2
-
-
0000984981
-
Autistic disturbances of affective contact
-
Kanner L. Autistic disturbances of affective contact. Nervous Child 1943, 2:217-250.
-
(1943)
Nervous Child
, vol.2
, pp. 217-250
-
-
Kanner, L.1
-
3
-
-
0242300623
-
Postnatal neurodevelopmental disorders: meeting at the synapse?
-
Zoghbi H.Y. Postnatal neurodevelopmental disorders: meeting at the synapse?. Science 2003, 302:826-830.
-
(2003)
Science
, vol.302
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
4
-
-
14644395605
-
Neuroanatomic observations of the brain in autism: a review and future directions
-
Bauman M.L., Kemper T.L. Neuroanatomic observations of the brain in autism: a review and future directions. Int J Dev Neurosci 2005, 23:183-187.
-
(2005)
Int J Dev Neurosci
, vol.23
, pp. 183-187
-
-
Bauman, M.L.1
Kemper, T.L.2
-
5
-
-
33645926675
-
Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism
-
Courchesne E., Redcay E., Morgan J.T., Kennedy D.P. Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism. Dev Psychopathol 2005, 17:577-597.
-
(2005)
Dev Psychopathol
, vol.17
, pp. 577-597
-
-
Courchesne, E.1
Redcay, E.2
Morgan, J.T.3
Kennedy, D.P.4
-
6
-
-
77950864908
-
Genetics of autistic disorders: review and clinical implications
-
Freitag C.M., Staal W., Klauck S.M., Duketis E., Waltes R. Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 2010, 19:169-178.
-
(2010)
Eur Child Adolesc Psychiatry
, vol.19
, pp. 169-178
-
-
Freitag, C.M.1
Staal, W.2
Klauck, S.M.3
Duketis, E.4
Waltes, R.5
-
8
-
-
77950564908
-
Clinical genetic testing for patients with autism spectrum disorders
-
peds.2009-1684v2001
-
Shen Y., Dies K., Holm I., Bridgemohan C., Sobeih M., Caronna E., Miller K., Frazier J., Silverstein I., Picker J., et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010, 125(4):e727-e735. peds.2009-1684v2001.
-
(2010)
Pediatrics
, vol.125
, Issue.4
-
-
Shen, Y.1
Dies, K.2
Holm, I.3
Bridgemohan, C.4
Sobeih, M.5
Caronna, E.6
Miller, K.7
Frazier, J.8
Silverstein, I.9
Picker, J.10
-
9
-
-
79958071067
-
Solving the autism puzzle a few pieces at a time
-
Schaaf C.P., Zoghbi H.Y. Solving the autism puzzle a few pieces at a time. Neuron 2011, 70:806-808.
-
(2011)
Neuron
, vol.70
, pp. 806-808
-
-
Schaaf, C.P.1
Zoghbi, H.Y.2
-
12
-
-
42449103568
-
Characterization of autism in young children with tuberous sclerosis complex
-
Jeste S.S., Sahin M., Bolton P., Ploubidis G.B., Humphrey A. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 2008, 23:520-525.
-
(2008)
J Child Neurol
, vol.23
, pp. 520-525
-
-
Jeste, S.S.1
Sahin, M.2
Bolton, P.3
Ploubidis, G.B.4
Humphrey, A.5
-
13
-
-
8844247121
-
Brain abnormalities in tuberous sclerosis complex
-
DiMario F.J. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 2004, 19:650-657.
-
(2004)
J Child Neurol
, vol.19
, pp. 650-657
-
-
DiMario, F.J.1
-
14
-
-
27744588780
-
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
-
(14 Spec No. 2)
-
Kwiatkowski D.J., Manning B.D. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005, R251-R258. (14 Spec No. 2).
-
(2005)
Hum Mol Genet
-
-
Kwiatkowski, D.J.1
Manning, B.D.2
-
15
-
-
32044465506
-
TOR signaling in growth and metabolism
-
Wullschleger S., Loewith R., Hall M.N. TOR signaling in growth and metabolism. Cell 2006, 124:471-484.
-
(2006)
Cell
, vol.124
, pp. 471-484
-
-
Wullschleger, S.1
Loewith, R.2
Hall, M.N.3
-
16
-
-
33745150462
-
Ribosomal protein S6 phosphorylation: from protein synthesis to cell size
-
Ruvinsky I., Meyuhas O. Ribosomal protein S6 phosphorylation: from protein synthesis to cell size. Trends Biochem Sci 2006, 31:342-348.
-
(2006)
Trends Biochem Sci
, vol.31
, pp. 342-348
-
-
Ruvinsky, I.1
Meyuhas, O.2
-
17
-
-
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
-
18
-
-
0042063774
-
Association between cardiac tumors and tuberous sclerosis in the fetus and neonate
-
Tworetzky W., McElhinney D.B., Margossian R., Moon-Grady A.J., Sallee D., Goldmuntz E., van der Velde M.E., Silverman N.H., Allan L.D. Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003, 92:487-489.
-
(2003)
Am J Cardiol
, vol.92
, pp. 487-489
-
-
Tworetzky, W.1
McElhinney, D.B.2
Margossian, R.3
Moon-Grady, A.J.4
Sallee, D.5
Goldmuntz, E.6
van der Velde, M.E.7
Silverman, N.H.8
Allan, L.D.9
-
19
-
-
39049083046
-
Clinical presentation and diagnosis of tuberous sclerosis complex in infancy
-
Datta A.N., Hahn C.D., Sahin M. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol 2008, 23:268-273.
-
(2008)
J Child Neurol
, vol.23
, pp. 268-273
-
-
Datta, A.N.1
Hahn, C.D.2
Sahin, M.3
-
20
-
-
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 Dev 2008, 22:2485-2495.
-
(2008)
Genes Dev
, 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
-
21
-
-
57749090378
-
Rheb and mTOR regulate neuronal polarity through Rap1B
-
Li Y.H., Werner H., Puschel A.W. Rheb and mTOR regulate neuronal polarity through Rap1B. J Biol Chem 2008, 283:33784-33792.
-
(2008)
J Biol Chem
, vol.283
, pp. 33784-33792
-
-
Li, Y.H.1
Werner, H.2
Puschel, A.W.3
-
22
-
-
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. J Biol Chem 2009, 284:27734-27745.
-
(2009)
J Biol Chem
, vol.284
, pp. 27734-27745
-
-
Morita, T.1
Sobue, K.2
-
23
-
-
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., et al. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci 2010, 13:163-172.
-
(2010)
Nat Neurosci
, 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
-
24
-
-
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. J Neurosci 2007, 27:5546-5558.
-
(2007)
J Neurosci
, 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
-
25
-
-
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. J Neurosci 2005, 25:11288-11299.
-
(2005)
J Neurosci
, vol.25
, pp. 11288-11299
-
-
Kumar, V.1
Zhang, M.X.2
Swank, M.W.3
Kunz, J.4
Wu, G.Y.5
-
26
-
-
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. J Neurosci 2005, 25:11300-11312.
-
(2005)
J Neurosci
, vol.25
, pp. 11300-11312
-
-
Jaworski, J.1
Spangler, S.2
Seeburg, D.P.3
Hoogenraad, C.C.4
Sheng, M.5
-
27
-
-
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. Nat Neurosci 2005, 8:1727-1734.
-
(2005)
Nat Neurosci
, 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
-
28
-
-
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. J Neurosci 2008, 28:5422-5432.
-
(2008)
J Neurosci
, 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
-
29
-
-
33646391271
-
A role for the mTOR pathway in surface expression of AMPA receptors
-
Wang Y., Barbaro M.F., Baraban S.C. A role for the mTOR pathway in surface expression of AMPA receptors. Neurosci Lett 2006, 401:35-39.
-
(2006)
Neurosci Lett
, vol.401
, pp. 35-39
-
-
Wang, Y.1
Barbaro, M.F.2
Baraban, S.C.3
-
30
-
-
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. J Neurosci 2011, 31:8862-8869.
-
(2011)
J Neurosci
, 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
-
31
-
-
82555196668
-
Mutations causing syndromic autism define an axis of synaptic pathophysiology
-
Auerbach B.D., Osterweil E.K., Bear M.F. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 2011, 480:63-68.
-
(2011)
Nature
, vol.480
, pp. 63-68
-
-
Auerbach, B.D.1
Osterweil, E.K.2
Bear, M.F.3
-
32
-
-
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. Eur J Neurosci 2006, 23:686-692.
-
(2006)
Eur J Neurosci
, vol.23
, pp. 686-692
-
-
von der Brelie, C.1
Waltereit, R.2
Zhang, L.3
Beck, H.4
Kirschstein, T.5
-
33
-
-
34447281251
-
The new neurobiology of autism: cortex, connectivity, and neuronal organization
-
Minshew N.J., Williams D.L. The new neurobiology of autism: cortex, connectivity, and neuronal organization. Arch Neurol 2007, 64:945-950.
-
(2007)
Arch Neurol
, vol.64
, pp. 945-950
-
-
Minshew, N.J.1
Williams, D.L.2
-
34
-
-
33846921789
-
Autism spectrum disorders: developmental disconnection syndromes
-
Geschwind D.H., Levitt P. Autism spectrum disorders: developmental disconnection syndromes. Curr Opin Neurobiol 2007, 17:103-111.
-
(2007)
Curr Opin Neurobiol
, vol.17
, pp. 103-111
-
-
Geschwind, D.H.1
Levitt, P.2
-
35
-
-
49149088555
-
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
-
Ehninger D., Han S., Shilyansky C., Zhou Y., Li W., Kwiatkowski D.J., Ramesh V., Silva A.J. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 2008, 14:843-848.
-
(2008)
Nat Med
, vol.14
, pp. 843-848
-
-
Ehninger, D.1
Han, S.2
Shilyansky, C.3
Zhou, Y.4
Li, W.5
Kwiatkowski, D.J.6
Ramesh, V.7
Silva, A.J.8
-
36
-
-
37849049287
-
Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures
-
Goorden S.M., 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. Ann Neurol 2007, 62:648-655.
-
(2007)
Ann Neurol
, vol.62
, pp. 648-655
-
-
Goorden, S.M.1
van Woerden, G.M.2
van der Weerd, L.3
Cheadle, J.P.4
Elgersma, Y.5
-
37
-
-
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., et al. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis 2007, 28:184-196.
-
(2007)
Neurobiol Dis
, 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
-
38
-
-
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 Dev 2011, 25:1595-1600.
-
(2011)
Genes Dev
, 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
-
39
-
-
0037191045
-
Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent
-
Jaeschke A., Hartkamp J., Saitoh M., Roworth W., Nobukuni T., Hodges A., Sampson J., Thomas G., Lamb R. Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent. J Cell Biol 2002, 159:217-224.
-
(2002)
J Cell Biol
, vol.159
, pp. 217-224
-
-
Jaeschke, A.1
Hartkamp, J.2
Saitoh, M.3
Roworth, W.4
Nobukuni, T.5
Hodges, A.6
Sampson, J.7
Thomas, G.8
Lamb, R.9
-
40
-
-
18544375193
-
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
-
Dan H.C., Sun M., Yang L., Feldman R.I., Sui X.M., Ou C.C., Nellist M., Yeung R.S., Halley D.J., Nicosia S.V., et al. Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem 2002, 277:35364-35370.
-
(2002)
J Biol Chem
, vol.277
, pp. 35364-35370
-
-
Dan, H.C.1
Sun, M.2
Yang, L.3
Feldman, R.I.4
Sui, X.M.5
Ou, C.C.6
Nellist, M.7
Yeung, R.S.8
Halley, D.J.9
Nicosia, S.V.10
-
41
-
-
0036713778
-
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
-
Inoki K., Li Y., Zhu T., Wu J., Guan K.L. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 2002, 4:648-657.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 648-657
-
-
Inoki, K.1
Li, Y.2
Zhu, T.3
Wu, J.4
Guan, K.L.5
-
42
-
-
0036342294
-
Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway
-
Manning B.D., Tee A.R., Logsdon M.N., Blenis J., Cantley L.C. Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway. Mol Cell 2002, 10:151-162.
-
(2002)
Mol Cell
, vol.10
, pp. 151-162
-
-
Manning, B.D.1
Tee, A.R.2
Logsdon, M.N.3
Blenis, J.4
Cantley, L.C.5
-
43
-
-
0036714127
-
Akt regulates growth by directly phosphorylating Tsc2
-
Potter C.J., Pedraza L.G., Xu T. Akt regulates growth by directly phosphorylating Tsc2. Nat Cell Biol 2002, 4:658-665.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 658-665
-
-
Potter, C.J.1
Pedraza, L.G.2
Xu, T.3
-
44
-
-
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. Ann Neurol 2006, 59:490-498.
-
(2006)
Ann Neurol
, 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
-
45
-
-
78049510428
-
Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis
-
Krueger D.A., Care M.M., Holland K., Agricola K., Tudor C., Mangeshkar P., Wilson K.A., Byars A., Sahmoud T., Franz D.N. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010, 363:1801-1811.
-
(2010)
N Engl J Med
, vol.363
, pp. 1801-1811
-
-
Krueger, D.A.1
Care, M.M.2
Holland, K.3
Agricola, K.4
Tudor, C.5
Mangeshkar, P.6
Wilson, K.A.7
Byars, A.8
Sahmoud, T.9
Franz, D.N.10
-
46
-
-
38049169559
-
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
-
Bissler J.J., McCormack F.X., Young L.R., Elwing J.M., Chuck G., Leonard J.M., Schmithorst V.J., Laor T., Brody A.S., Bean J., et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008, 358:140-151.
-
(2008)
N Engl J Med
, vol.358
, pp. 140-151
-
-
Bissler, J.J.1
McCormack, F.X.2
Young, L.R.3
Elwing, J.M.4
Chuck, G.5
Leonard, J.M.6
Schmithorst, V.J.7
Laor, T.8
Brody, A.S.9
Bean, J.10
-
47
-
-
80052472675
-
Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease
-
Dabora S.L., Franz D.N., Ashwal S., Sagalowsky A., DiMario F.J., Miles D., Cutler D., Krueger D., Uppot R.N., Rabenou R., et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PLoS One 2011, 6:e23379.
-
(2011)
PLoS One
, vol.6
-
-
Dabora, S.L.1
Franz, D.N.2
Ashwal, S.3
Sagalowsky, A.4
DiMario, F.J.5
Miles, D.6
Cutler, D.7
Krueger, D.8
Uppot, R.N.9
Rabenou, R.10
-
48
-
-
79959262531
-
Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial
-
Davies D.M., de Vries P.J., Johnson S.R., McCartney D.L., Cox J.A., Serra A.L., Watson P.C., Howe C.J., Doyle T., Pointon K., et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011, 17:4071-4081.
-
(2011)
Clin Cancer Res
, vol.17
, pp. 4071-4081
-
-
Davies, D.M.1
de Vries, P.J.2
Johnson, S.R.3
McCartney, D.L.4
Cox, J.A.5
Serra, A.L.6
Watson, P.C.7
Howe, C.J.8
Doyle, T.9
Pointon, K.10
-
49
-
-
79955510505
-
Efficacy and safety of sirolimus in lymphangioleiomyomatosis
-
McCormack F.X., Inoue Y., Moss J., Singer L.G., Strange C., Nakata K., Barker A.F., Chapman J.T., Brantly M.L., Stocks J.M., et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011, 364:1595-1606.
-
(2011)
N Engl J Med
, vol.364
, pp. 1595-1606
-
-
McCormack, F.X.1
Inoue, Y.2
Moss, J.3
Singer, L.G.4
Strange, C.5
Nakata, K.6
Barker, A.F.7
Chapman, J.T.8
Brantly, M.L.9
Stocks, J.M.10
-
50
-
-
79955498414
-
Regression of a cardiac rhabdomyoma in a patient receiving everolimus
-
Tiberio D., Franz D.N., Phillips J.R. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics 2011, 127:e1335-e1337.
-
(2011)
Pediatrics
, vol.127
-
-
Tiberio, D.1
Franz, D.N.2
Phillips, J.R.3
-
51
-
-
47549093135
-
The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis
-
Hofbauer G.F., Marcollo-Pini A., Corsenca A., Kistler A.D., French L.E., Wuthrich R.P., Serra A.L. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol 2008, 159:473-475.
-
(2008)
Br J Dermatol
, vol.159
, pp. 473-475
-
-
Hofbauer, G.F.1
Marcollo-Pini, A.2
Corsenca, A.3
Kistler, A.D.4
French, L.E.5
Wuthrich, R.P.6
Serra, A.L.7
-
52
-
-
77954830298
-
Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis
-
Haemel A.K., O'Brian A.L., Teng J.M. Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis. Arch Dermatol 2010, 146:715-718.
-
(2010)
Arch Dermatol
, vol.146
, pp. 715-718
-
-
Haemel, A.K.1
O'Brian, A.L.2
Teng, J.M.3
-
54
-
-
84856014473
-
Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin
-
Kaufman McNamara E., Curtis A.R., Fleischer A.B. Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin. J Dermatol Treat 2012, 23:46-48.
-
(2012)
J Dermatol Treat
, vol.23
, pp. 46-48
-
-
Kaufman McNamara, E.1
Curtis, A.R.2
Fleischer, A.B.3
-
55
-
-
80053078020
-
Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: optimizing a treatment protocol
-
DeKlotz C.M., Ogram A.E., Singh S., Dronavalli S., MacGregor J.L. Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: optimizing a treatment protocol. Arch Dermatol 2011, 147:1116-1117.
-
(2011)
Arch Dermatol
, vol.147
, pp. 1116-1117
-
-
DeKlotz, C.M.1
Ogram, A.E.2
Singh, S.3
Dronavalli, S.4
MacGregor, J.L.5
-
56
-
-
80053003178
-
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
-
Jozwiak S., Kotulska K., Domanska-Pakiela D., Lojszczyk B., Syczewska M., Chmielewski D., Dunin-Wasowicz D., Kmiec T., Szymkiewicz-Dangel J., Kornacka M., et al. 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 2011, 15:424-431.
-
(2011)
Eur J Paediatr Neurol
, vol.15
, pp. 424-431
-
-
Jozwiak, S.1
Kotulska, K.2
Domanska-Pakiela, D.3
Lojszczyk, B.4
Syczewska, M.5
Chmielewski, D.6
Dunin-Wasowicz, D.7
Kmiec, T.8
Szymkiewicz-Dangel, J.9
Kornacka, M.10
-
57
-
-
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 Res 2010, 89:246-253.
-
(2010)
Epilepsy Res
, 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
-
58
-
-
82955173883
-
Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex
-
Peters J.M., Sahin M., Vogel-Farley V.K., Jeste S.S., Gregas M.C., Prabhu S.P., Scherrer B., Warfield S.K. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol 2012, 19:17-25.
-
(2012)
Acad Radiol
, vol.19
, pp. 17-25
-
-
Peters, J.M.1
Sahin, M.2
Vogel-Farley, V.K.3
Jeste, S.S.4
Gregas, M.C.5
Prabhu, S.P.6
Scherrer, B.7
Warfield, S.K.8
-
59
-
-
84855807682
-
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
-
Huang H.S., Allen J.A., Mabb A.M., King I.F., Miriyala J., Taylor-Blake B., Sciaky N., Dutton J.W., Lee H.M., Chen X., et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 2012, 481:185-189.
-
(2012)
Nature
, vol.481
, pp. 185-189
-
-
Huang, H.S.1
Allen, J.A.2
Mabb, A.M.3
King, I.F.4
Miriyala, J.5
Taylor-Blake, B.6
Sciaky, N.7
Dutton, J.W.8
Lee, H.M.9
Chen, X.10
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