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Page 1
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.
Vandewalle J, Langen M, Zschätzsch M, Nijhof B, Kramer JM, Brems H, Bauters M, Lauwers E, Srahna M, Marynen P, Verstreken P, Schenck A, Hassan BA, Froyen G. Vandewalle J, et al. Among authors: nijhof b. PLoS One. 2013 Nov 26;8(11):e81791. doi: 10.1371/journal.pone.0081791. eCollection 2013. PLoS One. 2013. PMID: 24303071 Free PMC article.
Human intellectual disability genes form conserved functional modules in Drosophila.
Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, Verstreken P, Huynen MA, Schenck A. Oortveld MA, et al. Among authors: nijhof b. PLoS Genet. 2013 Oct;9(10):e1003911. doi: 10.1371/journal.pgen.1003911. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204314 Free PMC article.
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A. van Bon BW, et al. Among authors: nijhof b. Hum Mol Genet. 2013 Aug 1;22(15):3138-51. doi: 10.1093/hmg/ddt170. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575228
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T. Willemsen MH, et al. Among authors: nijhof b. J Med Genet. 2013 Aug;50(8):507-14. doi: 10.1136/jmedgenet-2012-101490. Epub 2013 May 4. J Med Genet. 2013. PMID: 23644463
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L. Iqbal Z, et al. Among authors: nijhof b. Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390136 Free article.
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW. Esmaeeli-Nieh S, et al. Among authors: nijhof b. PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May. PLoS Genet. 2016. PMID: 27166630 Free PMC article.
14 results