View Author
protein brain patient inclusion disease mouse expression study neuron x syndrome syndrome level model antibody mutation figure genet control premutation fmr 1 gene analysis gaucher result hagerman animal fxr 1p length intranuclear inclusions function willemsen fmr 1 mrna glucocerebrosidase intranuclear cgg ki mice tissue carrier receptor phenotype enzyme lysosomal retardation section cilia fxr 2p localization activity number mouse model tremor response exosome membrane region effect fmr 1 presence staining wild-type allele zebrafish oostra tassone liver mglur experiment disorder family dendritic treatment cortex instability signi embryo group development spine expansion isoform retardation protein gaucher disease
10 Most Recent Publications
|
Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice
(Article)
Hunsaker, M.R. Leden, R.E. von Ta, B.T. Goodrich-Hunsaker, N.J. Arque, G. Kim, K. Willemsen, R. Berman, R.F. |
2011-09-12
|
|
Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: Implications for the spectrum of fragile X-associated disorders
(Article)
Hunsaker, M.R. Greco, C. Tassone, F. Berman, R.F. Willemsen, R. Hagerman, R.J. |
2011-06-01
|
|
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome
(Article)
Levenga, G.J. Hayashi, S. Nelson, D.L. Willemsen, R. Gasparini, F. Oostra, B.A. Vrij, F.M.S. Koekkoek, S.K.E. Linde, H.C. van der Nieuwenhuizen, I.M. Song, C. Buijsen, R.A.M. Pop, A.S. GomezMancilla, B. |
2011-06-01
|
|
Defect of development of ocular vasculature in Glut1/SLC2A1 knockdown in vivo
(Article)
Zheng, P.-P. Romme, E. Spek, P.J. van der Dirven, C.M.F. Willemsen, R. Kros, J.M. |
2011-06-01
|
|
HeNe laser (633 nm)-coupled confocal microscope allows simulating magnetic resonance imaging/computed tomography scan of the brain and eye: A noninvasive optical approach applicable to small laboratory animals
(Article)
Zheng, P.-P. Romme, E. Spek, P.J. van der Dirven, C.M.F. Willemsen, R. Kros, J.M. |
2011-06-01
|
|
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
|
|
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
(Article)
Laar, I.M.B.H. van de Oldenburg, R. Vriend, G. Pattynama, P.M.T. Collee, J.M. Majoor-Krakauer, D.F. Poldermans, D. Frohn-Mulder, I.M.E. Micha, D. Timmermans, J. Hilhorst-Hofstee, Y. Bierma-Zeinstra, S.M.A. Pals, G. Willems, P.J. Kros, J.M. Oei, E.H.G. Oostra, B.A. Wessels, M.W. Bertoli Avella, A.M. Roos-Hesselink, J.W. Graaf, B.M. de Verhagen, J.M.A. Hoedemaekers, Y.M. Willemsen, R. Severijnen, L.A. Venselaar, H. |
2011-02-01
|
|
Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
(Article)
Hunsaker, M.R. Goodrich-Hunsaker, N.J. Willemsen, R. Berman, R.F. |
2010-12-01
|
|
Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo
(Article)
Zheng, P.P. Romme, E. Spek, P.J. van der Dirven, C.M.F. Willemsen, R. Kros, J.M. |
2010-12-01
|
|
Potential therapeutic interventions for fragile X syndrome
(Article)
Levenga, G.J. Vrij, F.M.S. Oostra, B.A. Willemsen, R. |
2010-11-01
|