-
1
-
-
84930515648
-
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
-
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015;14:733-45.
-
(2015)
Lancet Neurol
, vol.14
, pp. 733-745
-
-
Curatolo, P.1
Moavero, R.2
de Vries, P.J.3
-
2
-
-
84884522817
-
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference
-
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 2013;49:243-54.
-
(2013)
Pediatr Neurol
, vol.49
, pp. 243-254
-
-
Northrup, H.1
Krueger, D.A.2
-
3
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
van Slegtenhorst, M.1
de Hoogt, R.2
Hermans, C.3
-
4
-
-
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;75:1305-15.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
5
-
-
33646854721
-
TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase
-
Chong-Kopera H, Inoki K, Li Y, Zhu T, Garcia-Gonzalo FR, Rosa JL, Guan KL. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. J Biol Chem 2006;281:8313-6.
-
(2006)
J Biol Chem
, vol.281
, pp. 8313-8316
-
-
Chong-Kopera, H.1
Inoki, K.2
Li, Y.3
Zhu, T.4
Garcia-Gonzalo, F.R.5
Rosa, J.L.6
Guan, K.L.7
-
6
-
-
33646111903
-
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning
-
Cai SL, Tee AR, Short JD, Bergeron JM, Kim J, Shen J, Guo R, Johnson CL, Kiguchi K, Walker CL. Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J Cell Biol 2006;173:279-89.
-
(2006)
J Cell Biol
, vol.173
, pp. 279-289
-
-
Cai, S.L.1
Tee, A.R.2
Short, J.D.3
Bergeron, J.M.4
Kim, J.5
Shen, J.6
Guo, R.7
Johnson, C.L.8
Kiguchi, K.9
Walker, C.L.10
-
7
-
-
0032213545
-
Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles
-
Plank TL, Yeung RS, Henske EP. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 1998;58:4766-70.
-
(1998)
Cancer Res
, vol.58
, pp. 4766-4770
-
-
Plank, T.L.1
Yeung, R.S.2
Henske, E.P.3
-
8
-
-
84866519139
-
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
-
Hoogeveen-Westerveld M, van Unen L, van den Ouweland A, Hally D, Hoogeveen A, Nellist M. The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits. BMC Biochem 2012;13:18.
-
(2012)
BMC Biochem
, vol.13
, pp. 18
-
-
Hoogeveen-Westerveld, M.1
van Unen, L.2
van den Ouweland, A.3
Hally, D.4
Hoogeveen, A.5
Nellist, M.6
-
9
-
-
84865371057
-
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1
-
Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 2012;47:535-46.
-
(2012)
Mol 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
-
10
-
-
0042701991
-
Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
-
Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J. Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 2003;13:1259-68.
-
(2003)
Curr Biol
, vol.13
, pp. 1259-1268
-
-
Tee, A.R.1
Manning, B.D.2
Roux, P.P.3
Cantley, L.C.4
Blenis, J.5
-
11
-
-
0043127125
-
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
-
Inoki K, Li Y, Xu T, Guan KL. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev 2003;17:1829-34.
-
(2003)
Genes Dev
, vol.17
, pp. 1829-1834
-
-
Inoki, K.1
Li, Y.2
Xu, T.3
Guan, K.L.4
-
13
-
-
12244298162
-
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
-
Joinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003;33:335-44.
-
(2003)
Psychol Med
, 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
-
15
-
-
0030942875
-
Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex
-
Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR. Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 1997;12:85-90.
-
(1997)
J Child Neurol
, vol.12
, pp. 85-90
-
-
Goodman, M.1
Lamm, S.H.2
Engel, A.3
Shepherd, C.W.4
Houser, O.W.5
Gomez, M.R.6
-
16
-
-
2642525301
-
The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
-
O'Callaghan FJ, Harris T, Joinson C, Bolton P, Noakes M, Presdee D, Renowden S, Shiell A, Martyn CN, Osborne JP. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530-3.
-
(2004)
Arch Dis Child
, vol.89
, pp. 530-533
-
-
O'Callaghan, F.J.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
-
17
-
-
34547168930
-
The tuberous sclerosis complex proteins-a GRIPP on cognition and neurodevelopment
-
de Vries PJ, Howe CJ. The tuberous sclerosis complex proteins-a GRIPP on cognition and neurodevelopment. Trends Mol Med 2007;13:319-26.
-
(2007)
Trends Mol Med
, vol.13
, pp. 319-326
-
-
de Vries, P.J.1
Howe, C.J.2
-
18
-
-
37849049287
-
Cognitive deficits in Tsc1+/-mice in the absence of cerebral lesions and seizures
-
Goorden SM, van Woerden GM, van der Weerd L, Cheadle JP, Elgersma Y. Cognitive deficits in Tsc1+/-mice in the absence of cerebral lesions and seizures. Ann Neurol 2007;62:648-55.
-
(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
-
19
-
-
49149088555
-
Reversal of learning deficits in a Tsc2+/-mouse model of tuberous sclerosis
-
Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ. Reversal of learning deficits in a Tsc2+/-mouse model of tuberous sclerosis. Nat Med 2008;14:843-8.
-
(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
-
20
-
-
84865508373
-
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
-
Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012;488:647-51.
-
(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
-
21
-
-
79959262531
-
Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial
-
Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, Watson PC, Howe CJ, Doyle T, Pointon K, Cross JJ, Tattersfield AE, Kingswood JC, Sampson JR. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011;17:4071-81.
-
(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
Cross, J.J.11
Tattersfield, A.E.12
Kingswood, J.C.13
Sampson, J.R.14
-
22
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-61.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2155-2161
-
-
Jones, A.C.1
Daniells, C.E.2
Snell, R.G.3
Tachataki, M.4
Idziaszczyk, S.A.5
Krawczak, M.6
Sampson, J.R.7
Cheadle, J.P.8
-
23
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkpwski DJ. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
Roberts, P.S.4
Nieto, A.5
Chung, J.6
Choy, Y.S.7
Reeve, M.P.8
Thiele, E.9
Egelhoff, J.C.10
Kasprzyk-Obara, J.11
Domanska-Pakiela, D.12
Kwiatkpwski, D.J.13
-
24
-
-
1542407036
-
Genotype and psychological phenotype in tuberous sclerosis
-
Lewis JC, Thomas HV, Murphy KC. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet 2004;41:203-7.
-
(2004)
J Med Genet
, vol.41
, pp. 203-207
-
-
Lewis, J.C.1
Thomas, H.V.2
Murphy, K.C.3
-
25
-
-
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. Eur J Hum Genet 2005;13:731-41.
-
(2005)
Eur J Hum Genet
, 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
-
26
-
-
33847057994
-
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
-
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007;9:88-100.
-
(2007)
Genet Med
, vol.9
, pp. 88-100
-
-
Au, K.S.1
Williams, A.T.2
Roach, E.S.3
Batchelor, L.4
Sparagana, S.P.5
Delgado, M.R.6
Wheless, J.W.7
Baumgartner, J.E.8
Roa, B.B.9
Wilson, C.M.10
Smith-Knuppel, T.K.11
Cheung, M.Y.12
Whittemore, V.H.13
King, T.M.14
Northrup, H.15
-
27
-
-
41149172302
-
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
-
Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 2008;70:908-15.
-
(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
-
28
-
-
84859893640
-
Genotype and cognitive phenotype of patients with tuberous sclerosis complex
-
van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet 2012;20:510-5.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 510-515
-
-
van Eeghen, A.M.1
Black, M.E.2
Pulsifer, M.B.3
Kwiatkowski, D.J.4
Thiele, E.A.5
-
29
-
-
0032104190
-
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
-
Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998;23: 198-9.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 198-199
-
-
Nagy, E.1
Maquat, L.E.2
-
30
-
-
0036944170
-
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre-and post-positional cloning
-
Jeganathan D, Fox MF, Young JM, Yates JRW, Osborne JP, Povey S. Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre-and post-positional cloning. Hum Genet 2002;111:555-65.
-
(2002)
Hum Genet
, vol.111
, pp. 555-565
-
-
Jeganathan, D.1
Fox, M.F.2
Young, J.M.3
Yates, J.R.W.4
Osborne, J.P.5
Povey, S.6
-
31
-
-
70349763010
-
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
-
Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J, Ekong R, Povey S, den Dunnen JT, van den Ouweland A, Halley D, Nellist M. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009;10:88.
-
(2009)
BMC Med Genet
, vol.10
, pp. 88
-
-
Mozaffari, M.1
Hoogeveen-Westerveld, M.2
Kwiatkowski, D.3
Sampson, J.4
Ekong, R.5
Povey, S.6
den Dunnen, J.T.7
van den Ouweland, A.8
Halley, D.9
Nellist, M.10
-
32
-
-
77954959759
-
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
-
Hoogeveen-Westerveld M, Exalto C, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochim Biophys Acta 2010;1802:774-81.
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 774-781
-
-
Hoogeveen-Westerveld, M.1
Exalto, C.2
Maat-Kievit, A.3
van den Ouweland, A.4
Halley, D.5
Nellist, M.6
-
33
-
-
79952758204
-
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
-
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011;32:424-35.
-
(2011)
Hum Mutat
, vol.32
, pp. 424-435
-
-
Hoogeveen-Westerveld, M.1
Wentink, M.2
van den Heuvel, D.3
Mozaffari, M.4
Ekong, R.5
Povey, S.6
den Dunnen, J.T.7
Metcalfe, K.8
Vallee, S.9
Krueger, S.10
Bergoffen, J.11
Shashi, V.12
Elmslie, F.13
Kwiatkowski, D.14
Sampson, J.15
Vidales, C.16
Dzarir, J.17
Garcia-Planells, J.18
Dies, K.19
Maat-Kievit, A.20
van den Ouweland, A.21
Halley, D.22
Nellist, M.23
more..
-
34
-
-
79958238519
-
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex
-
Tierney KM, McCartney DL, Serfontein JR, de Vries PJ. Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. Behav Genet 2011;41:437-44.
-
(2011)
Behav Genet
, vol.41
, pp. 437-444
-
-
Tierney, K.M.1
McCartney, D.L.2
Serfontein, J.R.3
de Vries, P.J.4
-
35
-
-
0032438210
-
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria
-
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8.
-
(1998)
J Child Neurol
, vol.13
, pp. 624-628
-
-
Roach, E.S.1
Gomez, M.R.2
Northrup, H.3
-
41
-
-
0003406702
-
The ICD-10 classification of mental and behavioural disorders
-
Geneva: World Health Organization
-
World Health Organization. The ICD-10 classification of mental and behavioural disorders. Clinical Descriptions and Diagnostic Guidelines. Geneva: World Health Organization, 1994.
-
(1994)
Clinical Descriptions and Diagnostic Guidelines
-
-
-
42
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-15.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
43
-
-
0033917014
-
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
-
Jones AC, Sampson JR, Hoogendoorn B, Cohen D, Cheadle JP. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet 2000;106:663-8.
-
(2000)
Hum Genet
, vol.106
, pp. 663-668
-
-
Jones, A.C.1
Sampson, J.R.2
Hoogendoorn, B.3
Cohen, D.4
Cheadle, J.P.5
-
44
-
-
36448991500
-
Clustal W and Clustal X version 2.0
-
Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R, Thompson JD, Gibson TJ, Higgins DG. Clustal W and Clustal X version 2.0. Bioinformatics 2007;23:2947-8.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
McWilliam, H.6
Valentin, F.7
Wallace, I.M.8
Wilm, A.9
Lopez, R.10
Thompson, J.D.11
Gibson, T.J.12
Higgins, D.G.13
-
45
-
-
84955194331
-
-
http://chromium.liacs.nl/LOVD2/TSC/home.php.
-
-
-
-
46
-
-
84880366057
-
Crystal structujre of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations
-
Sun W, Zhu YJ, Wang Z, Zhong Q, Gao F, Lou J, Gong W, Xu W. Crystal structujre of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations. Nature Comms 2013;4:2135-0.
-
(2013)
Nature Comms
, vol.4
, pp. 2135-2140
-
-
Sun, W.1
Zhu, Y.J.2
Wang, Z.3
Zhong, Q.4
Gao, F.5
Lou, J.6
Gong, W.7
Xu, W.8
-
47
-
-
79958212150
-
Conservation of structural and functional elements of TSC1 and TSC2: a bioinformatic comparison across animal models
-
Serfontein J, Nisbet RER, Howe CJ, de Vries PJ. Conservation of structural and functional elements of TSC1 and TSC2: a bioinformatic comparison across animal models. Behav Genet 2011;41:349-56.
-
(2011)
Behav Genet
, vol.41
, pp. 349-356
-
-
Serfontein, J.1
Nisbet, R.E.R.2
Howe, C.J.3
de Vries, P.J.4
-
48
-
-
84886148621
-
Genetics of tuberous sclerosis complex
-
Kwiatkowski DJ, Whittemore VH, Thiele EA, eds. Wienheim: Wiley
-
Kwiatkowski DJ. Genetics of tuberous sclerosis complex. In: Kwiatkowski DJ, Whittemore VH, Thiele EA, eds. Tuberous sclerosis complex: genes, clinical features and therapeutics. Wienheim: Wiley, 2010:29-60.
-
(2010)
Tuberous sclerosis complex: genes, clinical features and therapeutics
, pp. 29-60
-
-
Kwiatkowski, D.J.1
-
49
-
-
0033775869
-
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
-
Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2000;2:281-7.
-
(2000)
Nat Cell Biol
, vol.2
, pp. 281-287
-
-
Lamb, R.F.1
Roy, C.2
Diefenbach, T.J.3
Vinters, H.V.4
Johnson, M.W.5
Jay, D.G.6
Hall, A.7
-
50
-
-
42249115210
-
Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling
-
Han S, Witt RM, Santos TM, Polizzano C, Sabatini BL, Ramesh V. Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling. Cell Signal 2008;20:1084-91.
-
(2008)
Cell Signal
, vol.20
, pp. 1084-1091
-
-
Han, S.1
Witt, R.M.2
Santos, T.M.3
Polizzano, C.4
Sabatini, B.L.5
Ramesh, V.6
-
51
-
-
0037262226
-
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
-
Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat 2003;21:112-15.
-
(2003)
Hum Mutat
, vol.21
, pp. 112-115
-
-
Emmerson, P.1
Maynard, J.2
Jones, S.3
Butler, R.4
Sampson, J.R.5
Cheadle, J.P.6
-
52
-
-
77955390643
-
Heritability in the efficiency of nonsense-mediated mRNA decay in humans
-
Seoighe C, Gehring C. Heritability in the efficiency of nonsense-mediated mRNA decay in humans. PLoS ONE 2010;5:e11657.
-
(2010)
PLoS ONE
, vol.5
-
-
Seoighe, C.1
Gehring, C.2
-
53
-
-
33845308278
-
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
-
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau FA, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 2006;60:528-39.
-
(2006)
Ann Neurol
, vol.60
, pp. 528-539
-
-
Jansen, A.C.1
Sancak, O.2
D'Agostino, M.D.3
Badhwar, A.4
Roberts, P.5
Gobbi, G.6
Wilkinson, R.7
Melanson, D.8
Tampieri, D.9
Koenekoop, R.10
Gans, M.11
Maat-Kievit, A.12
Goedbloed, M.13
van den Ouweland, A.M.W.14
Nellist, M.15
Pandolfo, M.16
McQueen, M.17
Sims, K.18
Thiele, E.A.19
Dubeau, F.A.20
Andermann, F.21
Kwiatkowski, D.J.22
Halley, D.J.J.23
Andermann, E.24
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