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COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM. Verbeek E, et al. Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333902 Free PMC article.
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: verbeek e. Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4. Mol Genet Metab. 2006. PMID: 16275149
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.
Yarovaya N, Schot R, Fodero L, McMahon M, Mahoney A, Williams R, Verbeek E, de Bondt A, Hampson M, van der Spek P, Stubbs A, Masters CL, Verheijen FW, Mancini GM, Venter DJ. Yarovaya N, et al. Among authors: verbeek e. Neurobiol Dis. 2005 Aug;19(3):351-65. doi: 10.1016/j.nbd.2004.12.020. Neurobiol Dis. 2005. PMID: 16023578
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM. Kheradmand Kia S, et al. Among authors: verbeek e. Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939636 Free PMC article.
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Göhlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R. Stroobants S, et al. Among authors: verbeek e. Exp Neurol. 2017 May;291:106-119. doi: 10.1016/j.expneurol.2017.02.009. Epub 2017 Feb 9. Exp Neurol. 2017. PMID: 28189729 Free article.
A mouse model for the cystic fibrosis delta F508 mutation.
van Doorninck JH, French PJ, Verbeek E, Peters RH, Morreau H, Bijman J, Scholte BJ. van Doorninck JH, et al. Among authors: verbeek e. EMBO J. 1995 Sep 15;14(18):4403-11. doi: 10.1002/j.1460-2075.1995.tb00119.x. EMBO J. 1995. PMID: 7556083 Free PMC article.
63 results