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Cognitive impairment in tuberous sclerosis complex is a multifactorial condition.
Jansen FE, Vincken KL, Algra A, Anbeek P, Braams O, Nellist M, Zonnenberg BA, Jennekens-Schinkel A, van den Ouweland A, Halley D, van Huffelen AC, van Nieuwenhuizen O. Jansen FE, et al. Among authors: nellist m. Neurology. 2008 Mar 18;70(12):916-23. doi: 10.1212/01.wnl.0000280579.04974.c0. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032744
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. Jansen FE, et al. Among authors: nellist m. Neurology. 2008 Mar 18;70(12):908-15. doi: 10.1212/01.wnl.0000280578.99900.96. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032745
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Nellist M, et al. Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830229 Free PMC article.
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.
Prabowo AS, Anink JJ, Lammens M, Nellist M, van den Ouweland AM, Adle-Biassette H, Sarnat HB, Flores-Sarnat L, Crino PB, Aronica E. Prabowo AS, et al. Among authors: nellist m. Brain Pathol. 2013 Jan;23(1):45-59. doi: 10.1111/j.1750-3639.2012.00616.x. Epub 2012 Aug 30. Brain Pathol. 2013. PMID: 22805177 Free PMC article.
Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signalling.
Ferrer I, Mohan P, Chen H, Castellsague J, Gómez-Baldó L, Carmona M, García N, Aguilar H, Jiang J, Skowron M, Nellist M, Ampuero I, Russi A, Lázaro C, Maxwell CA, Pujana MA. Ferrer I, et al. Among authors: nellist m. J Pathol. 2014 Jul;233(3):247-57. doi: 10.1002/path.4343. Epub 2014 Apr 29. J Pathol. 2014. PMID: 24604753 Free article.
100 results