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[From psychiatric symptoms to paraneoplastic syndrome].
de Bot ST, Dorresteijn LD, Haaxma CA, Kappelle AC, van de Warrenburg BP. de Bot ST, et al. Tijdschr Psychiatr. 2008;50(9):603-9. Tijdschr Psychiatr. 2008. PMID: 18785107 Free article. Dutch.
Child neurology: hereditary spastic paraplegia in children.
de Bot ST, van de Warrenburg BP, Kremer HP, Willemsen MA. de Bot ST, et al. Neurology. 2010 Nov 9;75(19):e75-9. doi: 10.1212/WNL.0b013e3181fc2776. Neurology. 2010. PMID: 21060088 Review. No abstract available.
Reviewing the genetic causes of spastic-ataxias.
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. de Bot ST, et al. Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Neurology. 2012. PMID: 23033504 Review.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium; Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: de brouwer ap, de vries bb, de bot st. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176823 Free PMC article.
41 results