Publications
2022
Scholarly publications
Bastiaansen, A. E. M., de Bruijn, M. A. A. M., Schuller, S. L., Martinez-Hernandez, E., Brenner, J., Paunovic, M., Crijnen, Y. S., Mulder, M. J. H. L., Schreurs, M. W. J., de Graaff, E., Smitt, P. A. E., Neuteboom, R. F., de Vries, J. M., & Titulaer, M. J. (2022). Anti-NMDAR Encephalitis in the Netherlands, Focusing on Late-Onset Patients and Antibody Test Accuracy. Neurology: Neuroimmunology and NeuroInflammation, 9(2). https://doi.org/10.1212/NXI.0000000000001127
Noordstra, I., van den Berg, C. M., Boot, F. W. J., Katrukha, E. A., Yu, K. L., Tas, R. P., Portegies, S., Viergever, B. J., de Graaff, E., Hoogenraad, C. C., de Koning, E. J. P., Carlotti, F., Kapitein, L. C., & Akhmanova, A. (2022). Organization and dynamics of the cortical complexes controlling insulin secretion in β-cells. Journal of Cell Science, 135(3), 1-18. [jcs259430]. https://doi.org/10.1242/jcs.259430
2019
Scholarly publications
van Coevorden-Hameete, M. H., de Bruijn, M. A. A. M., de Graaff, E., Bastiaansen, D. A. E. M., Schreurs, M. W. J., Demmers, J. A. A., Ramberger, M., Hulsenboom, E. S. P., Nagtzaam, M. M. P., Boukhrissi, S., Veldink, J. H., Verschuuren, J. J. G. M., Hoogenraad, C. C., Sillevis Smitt, P. A. E., & Titulaer, M. J. (2019). The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies. Brain, 142(6), 1631-1643. https://doi.org/10.1093/brain/awz094
2017
Scholarly publications
van Coevorden-Hameete, M. H., van Beuningen, S. F. B., Perrenoud, M., Will, L. M., Hulsenboom, E., Demonet, J-F., Sabater, L., Kros, J. M., Verschuuren, J. J. G. M., Titulaer, M. J., de Graaff, E., Sillevis Smitt, P. A. E., & Hoogenraad, C. (2017). Antibodies to TRIM46 are associated with paraneoplastic neurological syndromes. Annals of Clinical and Translational Neurology, 4(9), 680-686. https://doi.org/10.1002/acn3.396
2016
Scholarly publications
Kevenaar, J. T., Bianchi, S., van Spronsen, M., Olieric, N., Lipka, J., Frias, C. P., Mikhaylova, M., Harterink, M., Keijzer, N., Wulf, P. S., Hilbert, M., Kapitein, L. C., de Graaff, E., Akhmanova, A., Steinmetz, M. O., & Hoogenraad, C. C. (2016). Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity. Current Biology, 26(7), 849-861. https://doi.org/10.1016/j.cub.2016.01.048
Josifova, D. J., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S. G., Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C. C., Bakkers, J., Knoers, N. V., Firth, H. V., Beales, P. L., van Haaften, G., van Haelst, M. M., & DDD Study (2016). Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Human Molecular Genetics, 25(11), 2158-2167. https://doi.org/10.1093/hmg/ddw082
van Coevorden-Hameete, M. H., Titulaer, M. J., Schreurs, M. W. J., de Graaff, E., Sillevis Smitt, P. A. E., & Hoogenraad, C. C. (2016). Detection and Characterization of Autoantibodies to Neuronal Cell-Surface Antigens in the Central Nervous System. Frontiers in Molecular Neuroscience, 9. https://doi.org/10.3389/fnmol.2016.00037
2015
Scholarly publications
van Beuningen, S. F. B., Will, L., Harterink, M., Chazeau, A., van Battum, E. Y., Frias, C. P., Franker, M. A. M., Katrukha, E. A., Stucchi, R., Vocking, K., Antunes, A. T., Slenders, L., Doulkeridou, S., Sillevis Smitt, P., Altelaar, A. F. M., Post, J. A., Akhmanova, A., Pasterkamp, R. J., Kapitein, L. C., ... Hoogenraad, C. C. (2015). TRIM46 Controls Neuronal Polarity and Axon Specification by Driving the Formation of Parallel Microtubule Arrays. Neuron, 1208-1226. https://doi.org/10.1016/j.neuron.2015.11.012
van Mierlo, H. C., van Coevorden-Hameete, M. H., Munting, L. P., de Graaff, E., de Witte, L., & GROUP investigators (2015). No evidence for the presence of neuronal surface autoantibodies in plasma of patients with schizophrenia. European Neuropsychopharmacology, 25(12), 2326–2332. https://doi.org/10.1016/j.euroneuro.2015.09.017
Probst, C., Komorowski, L., de Graaff, E., van Coevorden-Hameete, M., Rogemond, V., Honnorat, J., Sabeter, L., Graus, F., Jarius, S., Voltz, R., Wildemann, B., Franciotta, D., Blöcker, I. M., Schlumberger, W., Stöcker, W., & Sillevis Smitt, P. A. E. (2015). Standardized test for anti-Tr/DNER in patients with paraneoplastic cerebellar degeneration. Neurology® neuroimmunology & neuroinflammation, 2(2), [e68]. https://doi.org/10.1212/NXI.0000000000000068
https://dspace.library.uu.nl/bitstream/handle/1874/324903/Probst.pdf?sequence=1
https://dspace.library.uu.nl/bitstream/handle/1874/324903/Probst.pdf?sequence=1
van Coevorden-Hameete, M. H., de Graaff, E., Titulaer, M. J., Hulsenboom, E., Sabater, L., Hoogenraad, C. C., & Sillevis Smitt, P. A. (2015). Plasticity-related gene 5: A novel surface autoantigen in paraneoplastic cerebellar degeneration. Neurology® neuroimmunology & neuroinflammation, 2(5), [e156]. https://doi.org/10.1212/NXI.0000000000000156
https://dspace.library.uu.nl/bitstream/handle/1874/324902/Hameete.pdf?sequence=1
https://dspace.library.uu.nl/bitstream/handle/1874/324902/Hameete.pdf?sequence=1
2014
Scholarly publications
Hessel, E. V. S., de Wit, M., Wolterink-Donselaar, I. G., Karst, H., de Graaff, E., van Lith, H. A., de Bruijn, E., de Sonnaville, S., Verbeek, N. E., Lindhout, D., de Kovel, C. G. F., Koeleman, B. P. C., van Kempen, M., Brilstra, E., Cuppen, E., Loos, M., Spijker, S. S., Kan, A. A., Baars, S. E., ... de Graan, P. N. E. (2014). Identification of Srp9 as a febrile seizure susceptibility gene. Annals of Clinical and Translational Neurology, 1(4), 239-50. https://doi.org/10.1002/acn3.48
Jaarsma, D., van den Berg, R., Wulf, P. S., van Erp, S., Keijzer, N., Schlager, M. A., de Graaff, E., De Zeeuw, C. I., Pasterkamp, R. J., Akhmanova, A., & Hoogenraad, C. C. (2014). A role for Bicaudal-D2 in radial cerebellar granule cell migration. Nature Communications [E], 5, 3411. https://doi.org/10.1038/ncomms4411
van Coevorden - Hameete, M., de Graaff, E., Titulaer, M. J., Hoogenraad, C., & Sillevis Smitt, P. A. (2014). Molecular and celllar mechanisms underlying anti-neuronal antibody mediated disorders of the central nervous system. Autoimmunity Reviews, 13(3), 299-312. https://doi.org/10.1016/j.autrev.2013.10.016
Other output
Kevenaar, J., Bianchi, S., van Spronsen, M., Olieric, N., Lipka, J., Mikhaylova, M., Rietman, L., Wulf, P., Beier, A., Harschnitz, O., Geijsen, N., Kapitein, L., de Graaff, E., Pasterkamp, R. J., Akhmanova, A., Steinmetz, M. O., & Hoogenraad, C. (2014). Goldberg-Shprintzen syndrome protein KBP controls kinesin activity to regulate vesicle trafficking and neuronal development. Poster session presented at Gordon Conference: "Cell Biology of the Neuron" 2014, Waterville Valley, United States.
Kevenaar, J., Bianchi, S., van Spronsen, M., Olieric, N., Lipka, J., Mikhaylova, M., Rietman, L., Wulf, P., Beier, A., Harschnitz, O., Geijsen, N., Kapitein, L., de Graaff, E., Pasterkamp, R. J., Akhmanova, A., Steinmetz, M. O., & Hoogenraad, C. (2014). Goldberg-Shprintzen syndrome protein KBP controls kinesin activity to regulate vesicle trafficking and neuronal development.
2013
Scholarly publications
Spangler, S. A., Schmitz, S. K., Kevenaar, J. T., de Graaff, E., de Wit, H., Demmers, J., Toonen, R. F. G., & Hoogenraad, C. C. (2013). Liprin-alpha2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission. Journal of Cell Biology, 201(6), 915-928.
Maat, P., de Graaff, E., Beveren, N. M., Hulsenboom, E., Verdijk, R. M., Koorengevel, K., van Duijn, M., Hooijkaas, H., Hoogenraad, C. C., & Sillevis Smitt, P. A. (2013). Psychiatric phenomena as initial manifestation of encephalitis by anti-NMDAR antibodies. Acta Neuropsychiatrica, 25(3), 128-136.
Other output
Kevenaar, J. T., Schmitz, S. K., Spangler, S. A., Jaarsma, D., de Graaff, E., Toonen, R. F., & Hoogenraad, C. C. (2013). Liprin-a2 regulates presynaptic plasticity by organizing active zone composition. Poster session presented at ENCODS, Bordeaux, France.
Kevenaar, J. T., Schmitz, S. K., Spangler, S. A., Jaarsma, D., de Graaff, E., Toonen, R. F., & Hoogenraad, C. C. (2013). Liprin-a2 regulates presynaptic plasticity by organizing active zone composition. Poster session presented at Gordon Research Conference Excitatory synapses and brain function, les Diablerets, Switzerland.
Kevenaar, J. T., Bianchi, S., van Spronsen, M., Olieric, N., Lipka, J. E., Mikhaylova, M., Rietman, L. M., Kapitein, L. C., de Graaff, E., Keijzer, N., Wulf, P. S., Pasterkamp, J. R., Steinmetz, M. O., Hoogenraad, C. C., & Akhmanova, A. S. (2013). Misregulation of KIF1A-mediated synaptic vesicle transport underlies Goldberg-Shprintzen syndrome. Poster session presented at Annual PhD ONWAR meeting, Zeist, The Netherlands.
van Beuningen, S. F. B., Antunes, A., Doulkeridou, S., van den Berg, R., de Graaff, E., & Hoogenraad, C. C. (2013). Playing with neuronal polarity.. Poster session presented at CGDB PhD retreat, Elspeet, The Netherlands.
2012
Scholarly publications
de Graaff, E., Maat, P., Hulsenboom, E., van den Berg, R., van den Bent, M., Demmers, J., Lugtenburg, P. J., Hoogenraad, C. C., & Sillevis Smitt, P. (2012). Identification of delta/notch-like epidermal growth factor-related receptor as the Tr antigen inparaneoplastic cerebellar degeneration. Annals of Neurology, 71(6), 815-824. https://doi.org/10.1002/ana.23550
French, V. M., Laar, I. M., Wessels, M. W., Rohe, C., Roos-Hesselink, J. W., Wang, G., Frohn-Mulder, I. M. E., Severijnen, L. A., Graaf, B. M., Schot, R., Breedveld, G., Mientjes, E., van Tienhoven, M., Jadot, E., Jiang, Z., Verkerk, A., Swagemakers, S., Venselaar, H., Rahimi, Z., ... Bertoli-Avella, A. M. (2012). NPHP4 variants are associated with pleiotropic heart malformations. Circulation Research, 110(12), 1564-1574.
Other output
Kevenaar, J. T., Schmitz, S. K., Jaarsma, D., de Graaff, E., Toonen, R. F. G., & Hoogenraad, C. C. (2012). Liprin-α2 regulates presynaptic plasticity by organizaing active zone composition. Abstract from Federation of European Neuroscience Societies Forum of Neuroscience, Barcelona.
Kevenaar, J. T., Schmitz, S. K., Jaarsma, D., de Graaff, E., Toonen, R. F. G., & Hoogenraad, C. C. (2012). Liprin-α2 regulates presynaptic plasticity by organizaing active zone composition. Poster session presented at Federation of European Neuroscience Societies Forum of Neuroscience, Barcelona.
2011
Scholarly publications
Zhao, T., De Graaff, E., Breedveld, G. J., Loda, A., Severijnen, L-A., Wouters, C. H., Verheijen, F. W., Dekker, M. C. J., Montagna, P., Willemsen, R., Oostra, B. A., & Bonifati, V. (2011). Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15). PLoS ONE, Edited by Eric Kremer, 6(2). https://doi.org/10.1371/journal.pone.0016983
Spangler, S. A., Jaarsma, D., de Graaff, E., Wulf, P. S., Akhmanova, A. S., & Hoogenraad, C. C. (2011). Differential expression of liprin-alpha proteins in the brain suggests functional diversification. Journal of Comparative Neurology, 519(15), 3040-3060.
Other output
de Graaff, E., Maat, P., Hulsenboom, E., van den Berg, R., van den Bent, M., Demmers, J., & Hoogenraad, C. C. (2011). Identifying the anti-TR antigen in paraneoplastic cerbellar degeneration. Abstract from American Society for Cell Biology Annual Meeting 2011, Denver.
de Graaff, E., Maat, P., Hulsenboom, E., van den Berg, R., van den Bent, M., Demmers, J., & Hoogenraad, C. C. (2011). Identifying the anti-TR antigen in paraneoplastic cerbellar degeneration. Poster session presented at American Society for Cell Biology Annual Meeting 2011, Denver.
2009
Scholarly publications
Lodder, E. M., Eussen, B. H., van Hassel, D. A. C. M., Hoogeboom, A. J. M., Poddighe, P. J., Coert, J. H., Oostra, B. A., de Klein, A., & de Graaff, E. (2009). Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly. Chromosome Research, 17(6), 737-44. https://doi.org/10.1007/s10577-009-9059-5
Di Fonzo, A., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Correia Guedes, L., Szczerbinska, A., Zhao, T., Dubbel-Hulsman, L. O. M., Wouters, C. H., de Graaff, E., Oyen, W. J. G., Simons, E. J., Breedveld, G. J., Oostra, B. A., Horstink, M. W., & Bonifati, V. (2009). FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology, 72(3), 240-5. https://doi.org/10.1212/01.wnl.0000338144.10967.2b
2005
Scholarly publications
Brooks, A. S., Bertoli-Avella, A. M., Burzynski, G. M., Breedveld, G. J., Osinga, J., Boven, L. G., Hurst, J. A., Mancini, G. M. S., Lequin, M. H., de Coo, R. F., Matera, I., de Graaff, E., Meijers, C., Willems, P. J., Tibboel, D., Oostra, B. A., & Hofstra, R. M. W. (2005). Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. American Journal of Human Genetics, 77(1), 120-6. https://doi.org/10.1086/431244
2003
Scholarly publications
Galjaard, R-J. H., Smits, A. P. T., Tuerlings, J. H. A. M., Bais, A. G., Bertoli Avella, A. M., Breedveld, G., de Graaff, E., Oostra, B. A., & Heutink, P. (2003). A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. European Journal of Human Genetics, 11(5), 409-15. https://doi.org/10.1038/sj.ejhg.5200982
Lettice, L. A., Heaney, S. J. H., Purdie, L. A., Li, L., de Beer, P., Oostra, B. A., Goode, D., Elgar, G., Hill, R. E., & de Graaff, E. (2003). A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Human Molecular Genetics, 12(14), 1725-35. https://doi.org/10.1093/hmg/ddg180
Galjaard, R-J. H., van der Linde, H. C., Eussen, B. H. J., de Vries, B. B. A., Wouters, C. H., Oostra, B. A., de Graaff, E., & Heutink, P. (2003). Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring. American Journal of Medical Genetics, Part A, 121A(2), 168-73. https://doi.org/10.1002/ajmg.a.20165
2002
Scholarly publications
van Baren, M. J., van der Linde, H. C., Breedveld, G. J., Baarends, W. M., Rizzu, P., de Graaff, E., Oostra, B. A., & Heutink, P. (2002). A double RING-H2 domain in RNF32, a gene expressed during sperm formation. Biochemical and Biophysical Research Communications, 292(1), 58-65. https://doi.org/10.1006/bbrc.2002.6612
1998
Scholarly publications
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., Lincoln, S., Dickson, D., Davies, P., Petersen, R. C., Stevens, M., de Graaff, E., Wauters, E., ... Heutink, P. (1998). Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature, 393(6686), 702-705. https://doi.org/10.1038/31508
1997
Scholarly publications
Malter, H. E., Iber, J. C., Willemsen, R., de Graaff, E., Tarleton, J. C., Leisti, J., Warren, S. T., & Oostra, B. A. (1997). Characterization of the full fragile X syndrome mutation in fetal gametes. Nature Genetics, 15(2), 165-9. https://doi.org/10.1038/ng0297-165
Bontekoe, C. J., de Graaff, E., Nieuwenhuizen, I. M., Willemsen, R., & Oostra, B. A. (1997). FMR1 premutation allele (CGG)81 is stable in mice. European Journal of Human Genetics, 5(5), 293-8.
1994
Scholarly publications
Hermans, M. M., De Graaff, E., Kroos, M. A., Mohkamsing, S., Eussen, B. J., Joosse, M., Willemsen, R., Kleijer, W. J., Oostra, B. A., & Reuser, A. J. (1994). The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Human Molecular Genetics, 3(12), 2213-8. https://doi.org/10.1093/hmg/3.12.2213
1993
Scholarly publications
Hermans, M. M., Kroos, M. A., de Graaff, E., Oostra, B. A., & Reuser, A. J. (1993). Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Human Mutation, 2(4), 268-73. https://doi.org/10.1002/humu.1380020406
Hermans, M. M., de Graaff, E., Kroos, M. A., Wisselaar, H. A., Willemsen, R., Oostra, B. A., & Reuser, A. J. (1993). The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochemical Journal, 289 ( Pt 3), 687-93. https://doi.org/10.1042/bj2890687
Verheij, C., Bakker, C. E., de Graaff, E., Keulemans, J., Willemsen, R., Verkerk, A. J. M. H., Galjaard, H., Reuser, A. J. J., Hoogeveen, A. T., & Oostra, B. A. (1993). Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature, 363(6431), 722-724. https://doi.org/10.1038/363722a0
1991
Scholarly publications
Hermans, M. M., de Graaff, E., Kroos, M. A., Wisselaar, H. A., Oostra, B. A., & Reuser, A. J. (1991). Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochemical and Biophysical Research Communications, 179(2), 919-26. https://doi.org/10.1016/0006-291x(91)91906-s