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protein level syndrome brain inclusion expression mouse hagerman fmr 1 gene carrier model genet x syndrome premutation length study instability fmr 1 mrna allele expansion hmms 19 pm carriers control tremor patient tassone tfiih fmr 1 mouse model intranuclear inclusions region antibody disease lamin fmrp levels animal broblast mutation phenotype intranuclear transcription cisplatin /ataxia effect mechanism fi broblasts function willemsen yeast number disorder sequence result premutation carriers subunit brouwer difference neuron retardation group signi srpk 1 oostra skin fi broblasts range analysis transmission table x-associated cgg mice methylation trinucleotide repair seizure oostra ba factor receptor subject replication symptom
10 Most Recent Publications
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Generation and characterization of Fmr1 knockout zebrafish
(Article)
Broeder, M.J. den Linde, H.C. van der Brouwer, J. Oostra, B.A. Willemsen, R. Ketting, R.F. |
2009-11-19
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Fibroblast phenotype in male carriers of FMR1 premutation alleles
(Article)
Garcia-Arocena, D. Yang, J.E. Campos, L. Howell, E. Ludwig, A. Greco, C. Willemsen, R. Hagerman, R.J. Brouwer, J. Tassone, F. Iwahashi, C. Berry-Kravis, E.M. Goetz, C.G. Sumis, A.M. Zhou, L. Nguyen, D.V. |
2009-11-11
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The FMR1 gene and fragile X-associated tremor/ataxia syndrome
(Article)
Brouwer, J. Willemsen, R.A. Oostra, B.A. |
2009-09-05
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Microsatellite repeat instability and neurological disease
(Article)
Brouwer, J. Willemsen, R. Oostra, B.A. |
2009-02-16
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Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
(Article)
D'Hulst, C. Heulens, I. Brouwer, J. Willemsen, R. Geest, N. de Reeve, S.P. Deyn, P.P. de Hassan, B.A. Kooy, R.F. |
2009-02-09
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CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
(Article)
Brouwer, J. Huizer, K. Severijnen, L.A. Hukema, R.K. Berman, R.F. Oostra, B.A. Willemsen, R. |
2008-12-01
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Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
(Article)
Brouwer, J. Severijnen, E.A. Jong, F.H. de Hessl, D. Hagerman, P.J. Oostra, B.A. Willemsen, R. |
2008-07-01
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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
(Article)
Brouwer, J. Mientjes, E.J. Bakker, C.E. Nieuwenhuizen, I.M. Severijnen, L.A. Linde, H.C. van der Nelson, D.L. Oostra, B.A. Willemsen, R. |
2007-01-15
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Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes
(Article)
Musumeci, S.A. Calabrese, G. Catania, M.V. Bonaccorso, C.M. D'Antoni, S. Brouwer, J. Bakker, C.E. Elia, M. Ferri, R. Nelson, D.L. Oostra, B.A. |
2007-01-01
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SKY1 is involved in cisplatin-induced cell kill in Saccharomyces cerevisiae, and inactivation of its human homologue, SRPK1, induces cisplatin resistance in a human ovarian carcinoma cell line
(Article)
Schenk, P.W. Boersma, A.W.M. Brandsma, J.A. Dulk, H. den Burger, H. Stoter, G. Brouwer, J. Nooter, K. |
2001-01-01
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