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dai: 298698552
scopus: 7004053171

Graaff, E. de

(Esther de Graaff)


protein liprin-a bicdr figure mutation expression family patient neuron brain control antibody vesicle syndrome secretory development fbxo 7 microtubule study analysis staining mouse genet localization region ier 3ip hippocampal isoform genetic journal level liprin-a 2 transport function cause neurite apoptosi neurology | research liprin-a proteins microcephaly liprin-a 1 member hippocampal neurons liprin-a 3 rab 6a breakpoint system scg 10 cortex liprin-a 4 ficking american journal interaction motor presynaptic image chromosome dynein liprin-a antibodies synaptic distribution marker deletion hippocampu zebra phenotype johns hopkins university fbxo 7 proteins domain fication transfected result fbxo 7 protein hoogenraad mendelian inheritance synapses kinesin sequence inversion disease




10 Most Recent Publications

Differential expression of liprin-α family proteins in the brain suggests functional diversification (Article)
Spangler, S.A. Jaarsma, D. Graaff, E. de Wulf, P. Akhmanova, A. Hoogenraad, C.C.
2011-10-15
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors (Article)
Poulton, C.J. Schot, R. Kia, S.K. Jones, M. Verheijen, F.W. Venselaar, H. Wit, M.C.Y. de Graaff, E. de Bertoli Avella, A.M. Mancini, G.M.S.
2011-08-12
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15) (Article)
Zhao, T. Graaff, E. de Oostra, B.A. Bonifati, V. Breedveld, G.J. Loda, A. Severijnen, L.A. Wouters, C.H. Verheijen, F.W. Dekker, M.C.J. Montagna, P. Willemsen, R.
2011-02-25
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation (Article)
Alves, M.M. Burzynski, G.M. Shepherd, I.T. Eggen, B.J. Hofstra, R.M. Delalande, J.M. Osinga, J. Goot, A. van der Dolga, A.M. Graaff, E. de Brooks, A.S. Metzger, M. Eisel, U.L.M.
2010-07-09
Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis (Article)
Schlager, M.A. Kapitein, L.C. Hoogenraad, C.C. Grigoriev, I. Burzynski, G.M. Wulf, P. Keijzer, N. Graaff, E. de Fukuda, M. Shepherd, I.T. Akhmanova, A.
2010-05-19
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly (Article)
Lodder, E.M. Eussen, B.H.J. Hassel, D.A.C.M. van Hoogeboom, A.J.M. Poddighe, P. Coert, J.H. Oostra, B.A. Klein, J.E.M.M. de Graaff, E. de
2009-08-01
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy (Article)
Verkerk, J.H.M. Schot, R. Hirst, J. Wessels, M.W. Catsman-Berrevoets, C.E. Verheijen, F.W. Graaff, E. de Coo, I.F.M. de Kros, J.M. Willemsen, R. Willems, P.J. Spek, P.J. van der Dumee, B. Mancini, G.M.S. Schellekens, K. Swagemakers, S.M.A. Bertoli Avella, A.M. Leguin, M. Dudink, J. Govaert, P. Zwol, A.L. van
2009-07-10
Genetics of radial deficiencies (Article)
Graaff, E. de Kozin, S.H.
2009-07-01
Deletion of 1 amino acid in indian hedgehog leads to Brachydactylya (Article)
Lodder, E.M. Hoogeboom, A.J.M. Coert, J.H. Graaff, E. de
2008-08-15
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems (Article)
Brooks, A.S. Breedveld, G.J. Meijers, C. Coo, R.F. de Oostra, B.A. Matera, I. Bertoli Avella, A.M. Burzynski, G.M. Graaff, E. de Tibboel, D. Osinga, J. Boven, L.G. Hurst, J.A. Willems, P.J. Hofstra, R.M. Mancini, G.M.S. Lequin, M.H.
2005-01-01