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10 Most Recent Publications
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
(Article)
Hoogeveen-Westerveld, M. Exalto, C. Maat-Kievit, A.A. Ouweland, A.M.W. van den Halley, D. Nellist, M. |
2010-09-01
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Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors
(Article)
Boer, K. Crino, P.B. Wadman, W.J. Aronica, E. Gorter, J.A. Nellist, M. Jansen, F.H. Spliet, W.G.M. Rijen, P.C. van Wittink, F. Breit, T.M. Troost, D. |
2010-07-01
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex
(Article)
Nellist, M. Heuvel, D. van den Bartalini, G. Vierimaa, O. Penttinen, M. Ende, J. van den Ouweland, A.M.W. van den Halley, D. Schluep, D. Exalto, C. Goedbloed, M.A. Maat-Kievit, A.A. Essen, T. van Spaendonck-Zwarts, K.Y. van Jansen, F. Helderman, P. |
2009-01-01
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A reliable cell-based assay for testing unclassified TSC2 gene variants
(Article)
Coevoets, R. Arican, S. Hoogeveen-Westerveld, M. Simons, E.J. Ouweland, A.M.W. van den Halley, D. Nellist, M. |
2009-01-01
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Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex
(Article)
Boer, K. Troost, D. Jansen, F.H. Nellist, M. Ouweland, A.M.W. van den Geurts, J.J.G. Spliet, W.G.M. Crino, P.B. Aronica, E. |
2008-12-01
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Cellular localization of metabotropic glutamate receptors in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex
(Article)
Boer, K. Troost, D. Timmermans, W. Gorter, J.A. Spliet, W.G.M. Nellist, M. Jansen, F.H. Aronica, E. |
2008-09-22
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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
(Article)
Nellist, M. Sancak, O. Goedbloed, M.A. Adriaans, A. Wessels, M.W. Maat-Kievit, A.A. Baars, M. Dommering, C.J. Ouweland, A.M.W. van den Halley, D. |
2008-04-16
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Cognitive impairment in tuberous sclerosis complex is a multifactorial condition
(Article)
Jansen, F.H. Vincken, K.L. Huffelen, A.C. van Nieuwenhuizen, O. van Algra, A. Anbeek, P. Braams, O. Nellist, M. Zonnenberg, B.A. Jennekens-Schinkel, A. Ouweland, A.M.W. van den Halley, D. |
2008-03-01
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Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
(Article)
Jansen, F.H. Braams, O. Nieuwenhuizen, O. van Nellist, M. Vincken, K.L. Algra, A. Anbeek, P. Jennekens-Schinkel, A. Halley, D. Zonnenberg, B.A. Ouweland, A.M.W. van den Huffelen, A.C. van |
2008-03-01
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