18.10.2013 Views

Verslag – Rapport – Bericht – Report - GSKE - FMRE

Verslag – Rapport – Bericht – Report - GSKE - FMRE

Verslag – Rapport – Bericht – Report - GSKE - FMRE

SHOW MORE
SHOW LESS

Create successful ePaper yourself

Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.

REFERENCES<br />

<strong>–</strong> Bagni, C., Tassone, F., Neri, G., and Hagerman, R. (2012). Fragile X syndrome: causes, diagnosis, mechanisms, and<br />

therapeutics. J Clin Invest 122, 4314-4322.<br />

<strong>–</strong> Bittel, D.C., Kibiryeva, N., and Butler, M.G. (2006). Expression of 4 genes between chromosome 15 breakpoints 1 and 2<br />

and behavioral outcomes in Prader-Willi syndrome. Pediatrics 118, e1276-1283.<br />

<strong>–</strong> Bozdagi, O., Sakurai, T., Dorr, N., Pilorge, M., Takahashi, N., and Buxbaum, J.D. (2012). Haploinsufficiency of Cyfip1<br />

produces fragile X-like phenotypes in mice. PLoS One 7, e42422.<br />

<strong>–</strong> Chai, J.H., Locke, D.P., Greally, J.M., Knoll, J.H., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E., and Nicholls, R.D. (2003).<br />

Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman<br />

syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum<br />

Genet 73, 898-925.<br />

<strong>–</strong> Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C.A., Dijkhuizen, T., Bijlsma, E.K., Gijsbers, A.C., Hilhorst-Hofstee, Y.,<br />

Hordijk, R., Verbruggen, K.T., Kerstjens-Frederikse, W.S., et al. (2009). Nine patients with a microdeletion 15q11.2 between<br />

breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet<br />

52, 108-115.<br />

<strong>–</strong> Fiala, J.C., Spacek, J., and Harris, K.M. (2002). Dendritic spine pathology: cause or consequence of neurological disorders?<br />

Brain Res Brain Res Rev 39, 29-54.<br />

<strong>–</strong> Klemmer, P., Smit, A.B., and Li, K.W. (2009). Proteomics analysis of immuno-precipitated synaptic protein complexes. J<br />

Proteomics 72, 82-90.<br />

<strong>–</strong> Li, K., Hornshaw, M.P., van Minnen, J., Smalla, K.H., Gundelfinger, E.D., and Smit, A.B. (2005). Organelle proteomics of<br />

rat synaptic proteins: correlation-profiling by isotope-coded affinity tagging in conjunction with liquid chromatographytandem<br />

mass spectrometry to reveal post-synaptic density specific proteins. J Proteome Res 4, 725-733.<br />

<strong>–</strong> Li, K.W., Jimenez, C.R., van der Schors, R.C., Hornshaw, M.P., Schoffelmeer, A.N., and Smit, A.B. (2006). Intermittent<br />

administration of morphine alters protein expression in rat nucleus accumbens. Proteomics 6, 2003-2008.<br />

<strong>–</strong> Li, K.W., Miller, S., Klychnikov, O., Loos, M., Stahl-Zeng, J., Spijker, S., Mayford, M., and Smit, A.B. (2007). Quantitative<br />

proteomics and protein network analysis of hippocampal synapses of CaMKIIalpha mutant mice. J Proteome Res 6,<br />

3127-3133.<br />

<strong>–</strong> Li, K.W., and Smit, A.B. (2008). Subcellular proteomics in neuroscience. Front Biosci 13, 4416-4425.<br />

<strong>–</strong> Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.L., and Giangrande, A. (2003). CYFIP/Sra-1 controls<br />

neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 38, 887-898.<br />

<strong>–</strong> Star, E.N., Kwiatkowski, D.J., and Murthy, V.N. (2002). Rapid turnover of actin in dendritic spines and its regulation by<br />

activity. Nat Neurosci 5, 239-246.<br />

<strong>–</strong> Tam, G.W., van de Lagemaat, L.N., Redon, R., Strathdee, K.E., Croning, M.D., Malloy, M.P., Muir, W.J., Pickard, B.S.,<br />

Deary, I.J., Blackwood, D.H., et al. (2010). Confirmed rare copy number variants implicate novel genes in schizophrenia.<br />

Biochem Soc Trans 38, 445-451.<br />

<strong>–</strong> van der Zwaag, B., Staal, W.G., Hochstenbach, R., Poot, M., Spierenburg, H.A., de Jonge, M.V., Verbeek, N.E., van ‘t Slot,<br />

R., van Es, M.A., Staal, F.J., et al. (2010). A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk<br />

genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 153B, 960-966.<br />

<strong>–</strong> von der Lippe, C., Rustad, C., Heimdal, K., and Rodningen, O.K. (2010). 15q11.2 microdeletion - seven new patients with<br />

delayed development and/or behavioural problems. Eur J Med Genet.<br />

<strong>Verslag</strong> <strong>–</strong> <strong>Rapport</strong> <strong>–</strong> <strong>Report</strong> 2012 23

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!