-
1
-
-
84859778293
-
mTOR signaling in growth control and disease
-
Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell 2012;149:274-93.
-
(2012)
Cell
, vol.149
, pp. 274-293
-
-
Laplante, M.1
Sabatini, D.M.2
-
2
-
-
84856078168
-
Deconvoluting mTOR Biology
-
Weber JD, Gutmann DH. Deconvoluting mTOR Biology. Cell Cycle 2012;11:236-48.
-
(2012)
Cell Cycle
, vol.11
, pp. 236-248
-
-
Weber, J.D.1
Gutmann, D.H.2
-
3
-
-
84879073039
-
A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials
-
Wong M. A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials. Expert Rev Neurother 2013;13:657-69.
-
(2013)
Expert Rev Neurother
, vol.13
, pp. 657-669
-
-
Wong, M.1
-
4
-
-
0037039358
-
A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
-
Tang SJ, Reis G, Kang H, Gingras AC, Sonenberg N, Schuman EM. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proc Natl Acad Sci USA 2002;99:467-72.
-
(2002)
Proc Natl Acad Sci USA
, 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
-
6
-
-
84899144736
-
mTOR signaling and its roles in normal and abnormal brain development
-
Takei N, Nawa H. mTOR signaling and its roles in normal and abnormal brain development. Front Mol Neurosci 2014;7:28.
-
(2014)
Front Mol Neurosci
, vol.7
, pp. 28
-
-
Takei, N.1
Nawa, H.2
-
7
-
-
84920141663
-
Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
-
Lasarge CL, Danzer SC. Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Front Mol Neurosci 2014;7:18.
-
(2014)
Front Mol Neurosci
, vol.7
, pp. 18
-
-
Lasarge, C.L.1
Danzer, S.C.2
-
8
-
-
0037178786
-
mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery
-
Kim DH, Sarbassov DD, Ali SM, King JE, Latek RR, Erdjument-Bromage H, Tempst P, Sabatini DM. mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery. Cell 2002;110:163-75.
-
(2002)
Cell
, vol.110
, pp. 163-175
-
-
Kim, D.H.1
Sarbassov, D.D.2
Ali, S.M.3
King, J.E.4
Latek, R.R.5
Erdjument-Bromage, H.6
Tempst, P.7
Sabatini, D.M.8
-
9
-
-
0035976615
-
Phosphatidic acid-mediated mitogenic activation of mTOR signaling
-
Fang Y, Vilella-Bach M, Bachmann R, Flanigan A, Chen J. Phosphatidic acid-mediated mitogenic activation of mTOR signaling. Science 2001;294:1942-5.
-
(2001)
Science
, vol.294
, pp. 1942-1945
-
-
Fang, Y.1
Vilella-Bach, M.2
Bachmann, R.3
Flanigan, A.4
Chen, J.5
-
10
-
-
84878357685
-
A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1
-
Bar-Peled L, Chantranupong L, Cherniack AD, Chen WW, Ottina KA, Grabiner BC, Spear ED, Carter SL, Meyerson M, Sabatini DM. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 2013;340:1100-6.
-
(2013)
Science
, vol.340
, pp. 1100-1106
-
-
Bar-Peled, L.1
Chantranupong, L.2
Cherniack, A.D.3
Chen, W.W.4
Ottina, K.A.5
Grabiner, B.C.6
Spear, E.D.7
Carter, S.L.8
Meyerson, M.9
Sabatini, D.M.10
-
11
-
-
79957971892
-
A conserved coatomer-related complex containing Sec13 and Seh1 dynamically associates with the vacuole in Saccharomyces cerevisiae
-
M110.006478
-
Dokudovskaya S, Waharte F, Schlessinger A, Pieper U, Devos DP, Cristea IM, Williams R, Salamero J, Chait BT, Sali A, Field MC, Rout MP, Dargemont C. A conserved coatomer-related complex containing Sec13 and Seh1 dynamically associates with the vacuole in Saccharomyces cerevisiae. Mol Cell Proteomics 2011;10:M110.006478.
-
(2011)
Mol Cell Proteomics
, vol.10
-
-
Dokudovskaya, S.1
Waharte, F.2
Schlessinger, A.3
Pieper, U.4
Devos, D.P.5
Cristea, I.M.6
Williams, R.7
Salamero, J.8
Chait, B.T.9
Sali, A.10
Field, M.C.11
Rout, M.P.12
Dargemont, C.13
-
12
-
-
84905908848
-
The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila
-
Wei Y, Lilly MA. The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila. Cell Death Differ 2014;21:1460-8.
-
(2014)
Cell Death Differ
, vol.21
, pp. 1460-1468
-
-
Wei, Y.1
Lilly, M.A.2
-
13
-
-
67651235863
-
A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex
-
Neklesa TK, Davis RW. A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. PLoS Genet 2009;5: e1000515.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000515
-
-
Neklesa, T.K.1
Davis, R.W.2
-
14
-
-
84932183545
-
SEA you later alli-GATOR--a dynamic regulator of the TORC1 stress response pathway
-
Dokudovskaya S, Rout MP. SEA you later alli-GATOR--a dynamic regulator of the TORC1 stress response pathway. J Cell Sci 2015;128:2219-28.
-
(2015)
J Cell Sci
, vol.128
, pp. 2219-2228
-
-
Dokudovskaya, S.1
Rout, M.P.2
-
15
-
-
84978375350
-
Definition and diagnostic criteria of sleep-related hypermotor epilepsy.
-
15 April
-
Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, Provini F, Scheffer IE, Tassi L, Vignatelli L, Bassetti C, Cirignotta F, Derry C, Gambardella A, Guerrini R, Halasz P, Licchetta L, Mahowald M, Manni R, Marini C, Mostacci B, Naldi I, Parrino L, Picard F, Pugliatti M, Ryvlin P, Vigevano F, Zucconi M, Berkovic S, Ottman R. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology Published Online First: 15 April 2016.
-
(2016)
Neurology Published Online First
-
-
Tinuper, P.1
Bisulli, F.2
Cross, J.H.3
Hesdorffer, D.4
Kahane, P.5
Nobili, L.6
Provini, F.7
Scheffer, I.E.8
Tassi, L.9
Vignatelli, L.10
Bassetti, C.11
Cirignotta, F.12
Derry, C.13
Gambardella, A.14
Guerrini, R.15
Halasz, P.16
Licchetta, L.17
Mahowald, M.18
Manni, R.19
Marini, C.20
Mostacci, B.21
Naldi, I.22
Parrino, L.23
Picard, F.24
Pugliatti, M.25
Ryvlin, P.26
Vigevano, F.27
Zucconi, M.28
Berkovic, S.29
Ottman, R.30
more..
-
16
-
-
84878366242
-
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
-
Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, WolffM, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet 2013;45:552-5.
-
(2013)
Nat Genet
, vol.45
, pp. 552-555
-
-
Ishida, S.1
Picard, F.2
Rudolf, G.3
Noé, E.4
Achaz, G.5
Thomas, P.6
Genton, P.7
Mundwiller, E.8
Wolff, M.9
Marescaux, C.10
Miles, R.11
Baulac, M.12
Hirsch, E.13
Leguern, E.14
Baulac, S.15
-
17
-
-
85046981886
-
Epilepsy with auditory features: a heterogenous and clinico-molecular disease
-
Pippucci T, Licchetta L, Baldassari S, Palombo F, Menghi V, D'Aurizio R, Leta C, Stipa C, Boero G, d'Orsi G, Magi A, Scheffer I, Seri M, Tinuper P, Bisulli F. Epilepsy with auditory features: a heterogenous and clinico-molecular disease. Neurol Genet 2015;1:e5.
-
(2015)
Neurol Genet
, vol.1
, pp. e5
-
-
Pippucci, T.1
Licchetta, L.2
Baldassari, S.3
Palombo, F.4
Menghi, V.5
D'Aurizio, R.6
Leta, C.7
Stipa, C.8
Boero, G.9
d'Orsi, G.10
Magi, A.11
Scheffer, I.12
Seri, M.13
Tinuper, P.14
Bisulli, F.15
-
18
-
-
84878352545
-
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
-
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013;45: 546-51.
-
(2013)
Nat Genet
, vol.45
, pp. 546-551
-
-
Dibbens, L.M.1
de Vries, B.2
Donatello, S.3
Heron, S.E.4
Hodgson, B.L.5
Chintawar, S.6
Crompton, D.E.7
Hughes, J.N.8
Bellows, S.T.9
Klein, K.M.10
Callenbach, P.M.11
Corbett, M.A.12
Gardner, A.E.13
Kivity, S.14
Iona, X.15
Regan, B.M.16
Weller, C.M.17
Crimmins, D.18
O'Brien, T.J.19
Guerrero-López, R.20
Mulley, J.C.21
Dubeau, F.22
Licchetta, L.23
Bisulli, F.24
Cossette, P.25
Thomas, P.Q.26
Gecz, J.27
Serratosa, J.28
Brouwer, O.F.29
Andermann, F.30
Andermann, E.31
van den Maagdenberg, A.M.32
Pandolfo, M.33
Berkovic, S.F.34
Scheffer, I.E.35
more..
-
19
-
-
84956578812
-
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
-
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Ann Neurol 2016;79:132-7.
-
(2016)
Ann Neurol
, vol.79
, pp. 132-137
-
-
Sim, J.C.1
Scerri, T.2
Fanjul-Fernández, M.3
Riseley, J.R.4
Gillies, G.5
Pope, K.6
van Roozendaal, H.7
Heng, J.I.8
Mandelstam, S.A.9
McGillivray, G.10
MacGregor, D.11
Kannan, L.12
Maixner, W.13
Harvey, A.S.14
Amor, D.J.15
Delatycki, M.B.16
Crino, P.B.17
Bahlo, M.18
Lockhart, P.J.19
Leventer, R.J.20
more..
-
20
-
-
84956574326
-
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
-
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol 2016;79:120-31.
-
(2016)
Ann Neurol
, vol.79
, pp. 120-131
-
-
Ricos, M.G.1
Hodgson, B.L.2
Pippucci, T.3
Saidin, A.4
Ong, Y.S.5
Heron, S.E.6
Licchetta, L.7
Bisulli, F.8
Bayly, M.A.9
Hughes, J.10
Baldassari, S.11
Palombo F12
Epilepsy Electroclinical Study, Group.13
Santucci, M.14
Meletti, S.15
Berkovic, S.F.16
Rubboli, G.17
Thomas, P.Q.18
Scheffer, I.E.19
Tinuper, P.20
Geoghegan, J.21
Schreiber, A.W.22
Dibbens, L.M.23
more..
-
21
-
-
84902273128
-
DEPDC5 mutations in genetic focal epilepsies of childhood
-
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 2014;75:788-92.
-
(2014)
Ann Neurol
, vol.75
, pp. 788-792
-
-
Lal, D.1
Reinthaler, E.M.2
Schubert, J.3
Muhle, H.4
Riesch, E.5
Kluger, G.6
Jabbari, K.7
Kawalia, A.8
Bäumel, C.9
Holthausen, H.10
Hahn, A.11
Feucht, M.12
Neophytou, B.13
Haberlandt, E.14
Becker, F.15
Altmüller, J.16
Thiele, H.17
Lemke, J.R.18
Lerche, H.19
Nürnberg, P.20
Sander, T.21
Weber, Y.22
Zimprich, F.23
Neubauer, B.A.24
more..
-
22
-
-
84979668151
-
Epileptic spasms are a feature of DEPDC5 mTORopathy
-
Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer FJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC. Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurol Genet 2015;1:e17.
-
(2015)
Neurol Genet
, vol.1
, pp. e17
-
-
Carvill, G.L.1
Crompton, D.E.2
Regan, B.M.3
McMahon, J.M.4
Saykally, J.5
Zemel, M.6
Schneider, A.L.7
Dibbens, L.8
Howell, K.B.9
Mandelstam, S.10
Leventer, F.J.11
Harvey, A.S.12
Mullen, S.A.13
Berkovic, S.F.14
Sullivan, J.15
Scheffer, I.E.16
Mefford, H.C.17
-
23
-
-
80055085208
-
Incidence of epilepsy: a systematic review and meta-analysis
-
Ngugi AK, Kariuki SM, Bottomley C, Kleinschmidt I, Sander JW, Newton CR. Incidence of epilepsy: a systematic review and meta-analysis. Neurology 2011;77:1005-12.
-
(2011)
Neurology
, vol.77
, pp. 1005-1012
-
-
Ngugi, A.K.1
Kariuki, S.M.2
Bottomley, C.3
Kleinschmidt, I.4
Sander, J.W.5
Newton, C.R.6
-
24
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009
-
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51:676-85.
-
(2010)
Epilepsia
, vol.51
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
Cross, J.H.5
van Emde Boas, W.6
Engel, J.7
French, J.8
Glauser, T.A.9
Mathern, G.W.10
Moshé, S.L.11
Nordli, D.12
Plouin, P.13
Scheffer, I.E.14
-
26
-
-
18544376557
-
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
-
Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-41.
-
(2002)
Nat Genet
, vol.30
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
Winawer, M.4
Barker-Cummings, C.5
Martinelli Boneschi, F.6
Choi, C.7
Morozov, P.8
Das, K.9
Teplitskaya, E.10
Yu, A.11
Cayanis, E.12
Penchaszadeh, G.13
Kottmann, A.H.14
Pedley, T.A.15
Hauser, W.A.16
Ottman, R.17
Gilliam, T.C.18
-
27
-
-
85005917703
-
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy
-
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet 2015;96:992-1000.
-
(2015)
Am J Hum Genet
, vol.96
, pp. 992-1000
-
-
Dazzo, E.1
Fanciulli, M.2
Serioli, E.3
Minervini, G.4
Pulitano, P.5
Binelli, S.6
Di Bonaventura, C.7
Luisi, C.8
Pasini, E.9
Striano, S.10
Striano, P.11
Coppola, G.12
Chiavegato, A.13
Radovic, S.14
Spadotto, A.15
Uzzau, S.16
La Neve, A.17
Giallonardo, A.T.18
Mecarelli, O.19
Tosatto, S.C.20
Ottman, R.21
Michelucci, R.22
Nobile, C.23
more..
-
28
-
-
84868196552
-
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
-
Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012;44:1188-90.
-
(2012)
Nat Genet
, vol.44
, pp. 1188-1190
-
-
Heron, S.E.1
Smith, K.R.2
Bahlo, M.3
Nobili, L.4
Kahana, E.5
Licchetta, L.6
Oliver, K.L.7
Mazarib, A.8
Afawi, Z.9
Korczyn, A.10
Plazzi, G.11
Petrou, S.12
Berkovic, S.F.13
Scheffer, I.E.14
Dibbens, L.M.15
-
29
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
Wallace, R.H.4
Phillips, H.A.5
Sutherland, G.R.6
Scheffer, I.E.7
Berkovic, S.F.8
-
30
-
-
33746578967
-
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
-
Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 2006;79:342-50.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 342-350
-
-
Aridon, P.1
Marini, C.2
Di Resta, C.3
Brilli, E.4
De Fusco, M.5
Politi, F.6
Parrini, E.7
Manfredi, I.8
Pisano, T.9
Pruna, D.10
Curia, G.11
Cianchetti, C.12
Pasqualetti, M.13
Becchetti, A.14
Guerrini, R.15
Casari, G.16
-
31
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-6.
-
(2000)
Nat Genet
, vol.26
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
Annesi, G.4
Gambardella, A.5
Quattrone, A.6
Ballabio, A.7
Wanke, E.8
Casari, G.9
-
32
-
-
84979657800
-
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
-
Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Ann Clin Transl Neurol 2015;2:821-30.
-
(2015)
Ann Clin Transl Neurol
, vol.2
, pp. 821-830
-
-
Hildebrand, M.S.1
Tankard, R.2
Gazina, E.V.3
Damiano, J.A.4
Lawrence, K.M.5
Dahl, H.H.6
Regan, B.M.7
Shearer, A.E.8
Smith, R.J.9
Marini, C.10
Guerrini, R.11
Labate, A.12
Gambardella, A.13
Tinuper, P.14
Lichetta, L.15
Baldassari, S.16
Bisulli, F.17
Pippucci, T.18
Scheffer, I.E.19
Reid, C.A.20
Petrou, S.21
Bahlo, M.22
Berkovic, S.F.23
more..
-
33
-
-
84925386380
-
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy
-
Steinlein OK. Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. Prog Brain Res 2014;213:1-15.
-
(2014)
Prog Brain Res
, vol.213
, pp. 1-15
-
-
Steinlein, O.K.1
-
34
-
-
84883828127
-
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified
-
Kaur A. Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified. Clin Genet 2013;84:341-2.
-
(2013)
Clin Genet
, vol.84
, pp. 341-342
-
-
Kaur, A.1
-
35
-
-
84877576898
-
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies
-
Malpass K. Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies. Nat Rev Neurol 2013; 9:237.
-
(2013)
Nat Rev Neurol
, vol.9
, pp. 237
-
-
Malpass, K.1
-
36
-
-
84937511052
-
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population
-
Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. Clin Genet 2014;86:570-4.
-
(2014)
Clin Genet
, vol.86
, pp. 570-574
-
-
Martin, C.1
Meloche, C.2
Rioux, M.F.3
Nguyen, D.K.4
Carmant, L.5
Andermann, E.6
Gravel, M.7
Cossette, P.8
-
37
-
-
84903974365
-
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
-
Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis SE, Leguern E, Steinlein O, Baulac S. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology 2014;82:2101-6.
-
(2014)
Neurology
, vol.82
, pp. 2101-2106
-
-
Picard, F.1
Makrythanasis, P.2
Navarro, V.3
Ishida, S.4
de Bellescize, J.5
Ville, D.6
Weckhuysen, S.7
Fosselle, E.8
Suls, A.9
De Jonghe, P.10
Vasselon Raina, M.11
Lesca, G.12
Depienne, C.13
An-Gourfinkel, I.14
Vlaicu, M.15
Baulac, M.16
Mundwiller, E.17
Couarch, P.18
Combi, R.19
Ferini-Strambi, L.20
Gambardella, A.21
Antonarakis, S.E.22
Leguern, E.23
Steinlein, O.24
Baulac, S.25
more..
-
38
-
-
84946721624
-
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
-
Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann Clin Transl Neurol 2015;2:575-80.
-
(2015)
Ann Clin Transl Neurol
, vol.2
, pp. 575-580
-
-
Scerri, T.1
Riseley, J.R.2
Gillies, G.3
Pope, K.4
Burgess, R.5
Mandelstam, S.A.6
Dibbens, L.7
Chow, C.W.8
Maixner, W.9
Harvey, A.S.10
Jackson, G.D.11
Amor, D.J.12
Delatycki, M.B.13
Crino, P.B.14
Berkovic, S.F.15
Scheffer, I.E.16
Bahlo, M.17
Lockhart, P.J.18
Leventer, R.J.19
-
39
-
-
84902281810
-
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
-
Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014;75:782-7.
-
(2014)
Ann Neurol
, vol.75
, pp. 782-787
-
-
Scheffer, I.E.1
Heron, S.E.2
Regan, B.M.3
Mandelstam, S.4
Crompton, D.E.5
Hodgson, B.L.6
Licchetta, L.7
Provini, F.8
Bisulli, F.9
Vadlamudi, L.10
Gecz, J.11
Connelly, A.12
Tinuper, P.13
Ricos, M.G.14
Berkovic, S.F.15
Dibbens, L.M.16
-
40
-
-
84925430981
-
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
-
Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol 2015;77:675-83.
-
(2015)
Ann Neurol
, vol.77
, pp. 675-683
-
-
Baulac, S.1
Ishida, S.2
Marsan, E.3
Miquel, C.4
Biraben, A.5
Nguyen, D.K.6
Nordli, D.7
Cossette, P.8
Nguyen, S.9
Lambrecq, V.10
Vlaicu, M.11
Daniau, M.12
Bielle, F.13
Andermann, E.14
Andermann, F.15
Leguern, E.16
Chassoux, F.17
Picard, F.18
-
41
-
-
84925674581
-
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
-
D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 2015;77:720-5.
-
(2015)
Ann Neurol
, vol.77
, pp. 720-725
-
-
D'Gama, A.M.1
Geng, Y.2
Couto, J.A.3
Martin, B.4
Boyle, E.A.5
LaCoursiere, C.M.6
Hossain, A.7
Hatem, N.E.8
Barry, B.J.9
Kwiatkowski, D.J.10
Vinters, H.V.11
Barkovich, A.J.12
Shendure, J.13
Mathern, G.W.14
Walsh, C.A.15
Poduri, A.16
-
42
-
-
84922018584
-
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy
-
van Kranenburg M, Hoogeveen-Westerveld M, Nellist M. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. Hum Mutat 2015;36:200-9.
-
(2015)
Hum Mutat
, vol.36
, pp. 200-209
-
-
van Kranenburg, M.1
Hoogeveen-Westerveld, M.2
Nellist, M.3
-
43
-
-
84943181104
-
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy
-
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia 2015;56:e168-71.
-
(2015)
Epilepsia
, vol.56
, pp. e168-e171
-
-
Striano, P.1
Serioli, E.2
Santulli, L.3
Manna, I.4
Labate, A.5
Dazzo, E.6
Pasini, E.7
Gambardella, A.8
Michelucci, R.9
Striano, S.10
Nobile, C.11
-
44
-
-
84959278799
-
DEPDC5 mutations in epilepsy with auditory features
-
Bisulli F, Licchetta L, Baldassari S, Pippucci T, Tinuper P. DEPDC5 mutations in epilepsy with auditory features. Epilepsia 2016;57:335.
-
(2016)
Epilepsia
, vol.57
, pp. 335
-
-
Bisulli, F.1
Licchetta, L.2
Baldassari, S.3
Pippucci, T.4
Tinuper, P.5
-
45
-
-
84862684102
-
Focal cortical dysplasia-review
-
Kabat J, Król P. Focal cortical dysplasia-review. Pol J Radiol 2012;77:35-43.
-
(2012)
Pol J Radiol
, vol.77
, pp. 35-43
-
-
Kabat, J.1
Król, P.2
-
46
-
-
66849115589
-
Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience
-
Lerner JT, Salamon N, Hauptman JS, Velasco TR, Hemb M, Wu JY, Sankar R, Donald Shields W, Engel J Jr, Fried I, Cepeda C, Andre VM, Levine MS, Miyata H, Yong WH, Vinters HV, Mathern GW. Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience. Epilepsia 2009;50:1310-35.
-
(2009)
Epilepsia
, vol.50
, pp. 1310-1335
-
-
Lerner, J.T.1
Salamon, N.2
Hauptman, J.S.3
Velasco, T.R.4
Hemb, M.5
Wu, J.Y.6
Sankar, R.7
Donald Shields, W.8
Engel, J.9
Fried, I.10
Cepeda, C.11
Andre, V.M.12
Levine, M.S.13
Miyata, H.14
Yong, W.H.15
Vinters, H.V.16
Mathern, G.W.17
-
48
-
-
84864402732
-
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
-
Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44:941-5.
-
(2012)
Nat Genet
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
Huynh, M.2
Silhavy, J.L.3
Kim, S.4
Dixon-Salazar, T.5
Heiberg, A.6
Scott, E.7
Bafna, V.8
Hill, K.J.9
Collazo, A.10
Funari, V.11
Russ, C.12
Gabriel, S.B.13
Mathern, G.W.14
Gleeson, J.G.15
-
49
-
-
84939653040
-
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
-
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol 2015;78:375-86.
-
(2015)
Ann Neurol
, vol.78
, pp. 375-386
-
-
Nakashima, M.1
Saitsu, H.2
Takei, N.3
Tohyama, J.4
Kato, M.5
Kitaura, H.6
Shiina, M.7
Shirozu, H.8
Masuda, H.9
Watanabe, K.10
Ohba, C.11
Tsurusaki, Y.12
Miyake, N.13
Zheng, Y.14
Sato, T.15
Takebayashi, H.16
Ogata, K.17
Kameyama, S.18
Kakita, A.19
Matsumoto, N.20
more..
-
50
-
-
84931090578
-
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
-
Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat Med 2015;21:395-400.
-
(2015)
Nat Med
, vol.21
, pp. 395-400
-
-
Lim, J.S.1
Kim, W.I.2
Kang, H.C.3
Kim, S.H.4
Park, A.H.5
Park, E.K.6
Cho, Y.W.7
Kim, S.8
Kim, H.M.9
Kim, J.A.10
Kim, J.11
Rhee, H.12
Kang, S.G.13
Kim, H.D.14
Kim, D.15
Kim, D.S.16
Lee, J.H.17
-
51
-
-
84923250272
-
Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy
-
Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr Neurol 2015;52:281-9.
-
(2015)
Pediatr Neurol
, vol.52
, pp. 281-289
-
-
Curatolo, P.1
-
52
-
-
84896320213
-
Fetal brain mTOR signaling activation in tuberous sclerosis complex
-
Tsai V, Parker WE, Orlova KA, Baybis M, Chi AW, Berg BD, Birnbaum JF, Estevez J, Okochi K, Sarnat HB, Flores-Sarnat L, Aronica E, Crino PB. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cereb Cortex 2014;24:315-27.
-
(2014)
Cereb Cortex
, vol.24
, pp. 315-327
-
-
Tsai, V.1
Parker, W.E.2
Orlova, K.A.3
Baybis, M.4
Chi, A.W.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
-
53
-
-
84958240587
-
Depdc5 knockout rat: A novel model of mTORopathy
-
Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S. Depdc5 knockout rat: A novel model of mTORopathy. Neurobiol Dis 2016;89:180-9.
-
(2016)
Neurobiol Dis
, vol.89
, pp. 180-189
-
-
Marsan, E.1
Ishida, S.2
Schramm, A.3
Weckhuysen, S.4
Muraca, G.5
Lecas, S.6
Liang, N.7
Treins, C.8
Pende, M.9
Roussel, D.10
Le Van Quyen, M.11
Mashimo, T.12
Kaneko, T.13
Yamamoto, T.14
Sakuma, T.15
Mahon, S.16
Miles, R.17
Leguern, E.18
Charpier, S.19
Baulac, S.20
more..
-
54
-
-
80053418271
-
A molecular chaperone mediates a two-protein enzyme complex and glycosylation of serine-rich streptococcal adhesins
-
Wu R, Wu H. A molecular chaperone mediates a two-protein enzyme complex and glycosylation of serine-rich streptococcal adhesins. J Biol Chem 2011;286:34923-31.
-
(2011)
J Biol Chem
, vol.286
, pp. 34923-34931
-
-
Wu, R.1
Wu, H.2
-
55
-
-
33748590520
-
DEP-domain-mediated regulation of GPCR signaling responses
-
Ballon DR, Flanary PL, Gladue DP, Konopka JB, Dohlman HG, Thorner J. DEP-domain-mediated regulation of GPCR signaling responses. Cell 2006;126:1079-93.
-
(2006)
Cell
, vol.126
, pp. 1079-1093
-
-
Ballon, D.R.1
Flanary, P.L.2
Gladue, D.P.3
Konopka, J.B.4
Dohlman, H.G.5
Thorner, J.6
-
56
-
-
84876431000
-
Discovery of new longin and roadblock domains that form platforms for small GTPases in ragulator and TRAPP-II
-
Levine TP, Daniels RD, Wong LH, Gatta AT, Gerondopoulos A, Barr FA. Discovery of new longin and roadblock domains that form platforms for small GTPases in ragulator and TRAPP-II. Small GTPases 2013;4:62-9.
-
(2013)
Small GTPases
, vol.4
, pp. 62-69
-
-
Levine, T.P.1
Daniels, R.D.2
Wong, L.H.3
Gatta, A.T.4
Gerondopoulos, A.5
Barr, F.A.6
-
57
-
-
84870859143
-
Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer
-
Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, Blundell TL. Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol 2012;2:120071.
-
(2012)
Open Biol
, vol.2
, pp. 120071
-
-
Nookala, R.K.1
Langemeyer, L.2
Pacitto, A.3
Ochoa-Montaño, B.4
Donaldson, J.C.5
Blaszczyk, B.K.6
Chirgadze, D.Y.7
Barr, F.A.8
Bazan, J.F.9
Blundell, T.L.10
-
58
-
-
84874266850
-
Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease
-
Zhang D, Iyer LM, He F, Aravind L. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 2012;3:283.
-
(2012)
Front Genet
, vol.3
, pp. 283
-
-
Zhang, D.1
Iyer, L.M.2
He, F.3
Aravind, L.4
-
59
-
-
84910612231
-
Molecular architecture and function of the SEA complex, a modulator of the TORC1 pathway
-
Algret R, Fernandez-Martinez J, Shi Y, Kim SJ, Pellarin R, Cimermancic P, Cochet E, Sali A, Chait BT, Rout MP, Dokudovskaya S. Molecular architecture and function of the SEA complex, a modulator of the TORC1 pathway. Mol Cell Proteomics 2014;13:2855-70.
-
(2014)
Mol Cell Proteomics
, vol.13
, pp. 2855-2870
-
-
Algret, R.1
Fernandez-Martinez, J.2
Shi, Y.3
Kim, S.J.4
Pellarin, R.5
Cimermancic, P.6
Cochet, E.7
Sali, A.8
Chait, B.T.9
Rout, M.P.10
Dokudovskaya, S.11
-
60
-
-
0032486268
-
Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism
-
Hara K, Yonezawa K, Weng QP, Kozlowski MT, Belham C, Avruch J. Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism. J Biol Chem 1998;273:14484-94. Erratum in: J Biol Chem 1998;273:22160.
-
(1998)
J Biol Chem
, vol.273
, pp. 14484-14494
-
-
Hara, K.1
Yonezawa, K.2
Weng, Q.P.3
Kozlowski, M.T.4
Belham, C.5
Avruch, J.6
-
62
-
-
84908232014
-
The neurology of mTOR
-
Lipton JO, Sahin M. The neurology of mTOR. Neuron 2014;84:275-91.
-
(2014)
Neuron
, vol.84
, pp. 275-291
-
-
Lipton, J.O.1
Sahin, M.2
-
63
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Epi4K Consortium; Epilepsy Phenome/Genome ProjectAllen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, KossoffEH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-21.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
Berkovic, S.F.2
Cossette, P.3
Delanty, N.4
Dlugos, D.5
Eichler, E.E.6
Epstein, M.P.7
Glauser, T.8
Goldstein, D.B.9
Han, Y.10
Heinzen, E.L.11
Hitomi, Y.12
Howell, K.B.13
Johnson, M.R.14
Kuzniecky, R.15
Lowenstein, D.H.16
Lu, Y.F.17
Madou, M.R.18
Marson, A.G.19
Mefford, H.C.20
Esmaeeli Nieh, S.21
O'Brien, T.J.22
Ottman, R.23
Petrovski, S.24
Poduri, A.25
Ruzzo, E.K.26
Scheffer, I.E.27
Sherr, E.H.28
Yuskaitis, C.J.29
Abou-Khalil, B.30
Alldredge, B.K.31
Bautista, J.F.32
Berkovic, S.F.33
Boro, A.34
Cascino, G.D.35
Consalvo, D.36
Crumrine, P.37
Devinsky, O.38
Dlugos, D.39
Epstein, M.P.40
Fiol, M.41
Fountain, N.B.42
French, J.43
Friedman, D.44
Geller, E.B.45
Glauser, T.46
Glynn, S.47
Haut, S.R.48
Hayward, J.49
Helmers, S.L.50
Joshi, S.51
Kanner, A.52
Kirsch, H.E.53
Knowlton, R.C.54
Kossoff, E.H.55
Kuperman, R.56
Kuzniecky, R.57
Lowenstein, D.H.58
McGuire, S.M.59
Motika, P.V.60
Novotny, E.J.61
Ottman, R.62
Paolicchi, J.M.63
Parent, J.M.64
Park, K.65
Poduri, A.66
Scheffer, I.E.67
Shellhaas, R.A.68
Sherr, E.H.69
Shih, J.J.70
Singh, R.71
Sirven, J.72
Smith, M.C.73
Sullivan, J.74
Lin Thio, L.75
Venkat, A.76
Vining, E.P.77
Von Allmen, G.K.78
Weisenberg, J.L.79
Widdess-Walsh, P.80
Winawer, M.R.81
more..
-
64
-
-
84859646140
-
Somatic activation of AKT3 causes hemispheric developmental brain malformations
-
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 2012;74:41-8.
-
(2012)
Neuron
, vol.74
, pp. 41-48
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Elhosary, P.C.4
Beroukhim, R.5
Lehtinen, M.K.6
Hills, L.B.7
Heinzen, E.L.8
Hill, A.9
Hill, R.S.10
Barry, B.J.11
Bourgeois, B.F.12
Riviello, J.J.13
Barkovich, A.J.14
Black, P.M.15
Ligon, K.L.16
Walsh, C.A.17
-
65
-
-
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 DJ. 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;28:5422-32.
-
(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
-
66
-
-
42949140259
-
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.
-
Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 2008;63:444-53
-
(2008)
Ann Neurol
, vol.63
, pp. 444-453
-
-
Zeng, L.H.1
Xu, L.2
Gutmann, D.H.3
Wong, M.4
-
67
-
-
77954896543
-
Chemistry and pharmacology of rapamycin and its derivatives
-
Abraham RT, Gibbons JJ, Graziani EI. Chemistry and pharmacology of rapamycin and its derivatives. Enzymes 2010;27:329-66.
-
(2010)
Enzymes
, vol.27
, pp. 329-366
-
-
Abraham, R.T.1
Gibbons, J.J.2
Graziani, E.I.3
-
69
-
-
77957911956
-
Characterization of PF-4708671: a novel and highly specific inhibitor of p70 ribosomal S6 kinase (S6K1)
-
Pearce LR, Alton GR, Richter DT, Kath JC, Lingardo L, Chapman J, Hwang C, Alessi DR. Characterization of PF-4708671: a novel and highly specific inhibitor of p70 ribosomal S6 kinase (S6K1). Biochem J 2010;431:245-55.
-
(2010)
Biochem J
, vol.431
, pp. 245-255
-
-
Pearce, L.R.1
Alton, G.R.2
Richter, D.T.3
Kath, J.C.4
Lingardo, L.5
Chapman, J.6
Hwang, C.7
Alessi, D.R.8
-
70
-
-
84962791864
-
mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis
-
Citraro R, Leo A, Constanti A, Russo E, De Sarro G. mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. Pharmacol Res 2016;107:333-43.
-
(2016)
Pharmacol Res
, vol.107
, pp. 333-343
-
-
Citraro, R.1
Leo, A.2
Constanti, A.3
Russo, E.4
De Sarro, G.5
-
71
-
-
43249131881
-
Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI
-
Jacobs J, Rohr A, Moeller F, Boor R, Kobayashi E, LeVan Meng P, Stephani U, Gotman J, Siniatchkin M. Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. Epilepsia 2008;49: 816-25.
-
(2008)
Epilepsia
, vol.49
, pp. 816-825
-
-
Jacobs, J.1
Rohr, A.2
Moeller, F.3
Boor, R.4
Kobayashi, E.5
LeVan Meng, P.6
Stephani, U.7
Gotman, J.8
Siniatchkin, M.9
|