My research is driven by curiosity and focuses on fragile X syndrome and C9ORF72-linked frontaltemporal dementia/amyotrophic lateral sclerosis. My ambition is to understand the molecular pathways underlying these devastating diseases. The inspiring scientific creativity provided by research is the motivation to come to work every morning.
Education and career
I received my PhD degree at the Erasmus University Rotterdam where I performed research on lysosomal storage disorders, including Gaucher disease. Since 1995, my research is focused on the physiological function of FMRP and the pathogenesis of the fragile X syndrome.
Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously.
Zeidler S, H. de Boer, R.K. Hukema, R. Willemsen. (2017). Front Mol Neurosci. 2017; 10: 368.
RAN translation of expanded CGG repeats is pathogenic in Fragile X Tremor Ataxia Syndrome.
Sellier, C., R.A.M. Buijsen, F. He, L. Jung, P. Tropel, A. Gaucherot, H. Jacobs, H. Meziane, A. Vincent, M. Champy, T. Sorg, G. Pavlovic, M. Wattenhofer-Donze, M. Birling, M. Oulad-Abdelghani, P. Eberling, F. Ruffenach, M. Joint, M. Anheim, V. Martinez-Cerdeno, F. Tassone, R. Willemsen, R.K. Hukema, S. Viville, C. Martinat, P.K. Todd, N. Charlet-Berguerand. (2017). Volume 93, Issue 2, 18 January 2017, Pages 331-347.
The quest for targeted therapy in fragile X syndrome.
Zeidler, S., R.K. Hukema, R. Willemsen. (2015). Expert Opin Ther Targets. 2015;19(10):1277-81.
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
Hukema R.K., R.A. Buijsen, M. Schonewille, C. Raske, L.A. Severijnen, I. Nieuwenhuizen-Bakker, R.F. Verhagen,L. van Dessel, A. Maas, N. Charlet-Berguerand, C.I. De Zeeuw, P.J. Hagerman, R.F. Berman, R. Willemsen. (2015). Hum Mol Genet. 2015 Sep 1;24(17):4948-57.
Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test.
De Esch, C.E., W.E. van den Berg, R.A.M. Buijsen, I.A. Jaafar, I.M. Nieuwenhuizen-Bakker, F. Gasparini, S.A. Kushner, R Willemsen. (2015). Neurobiol Dis. 2015 Mar;75:31-9.
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
De Esch, C.E., M. Ghazvini, F. Loos, N. Schelling-Kazaryan, W. Widagdo, S.T. Munshi, E. van der Wal, H. Douben, N. Gunhanlar, S.A. Kushner, W.W.M. Pijnappel, F.M.S. de Vrij, N. Geijse, J. Gribnau, R. Willemsen. (2014). Stem Cell Reports. 2014 Oct 14;3(4):548-55.