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inclusion premutation protein brain mouse level hagerman intranuclear inclusions syndrome intranuclear control carrier sam 68 fmr 1 mrna neuron figure tremor cgg aggregates fmr 1 gene genet aggregate patient tassone tissue study allele precgg expression lamin premutation carriers broblast number model analysis fxtas patients /ataxia disorder antibody fi broblasts erasmus university rotterdam identi fied culture disease x syndrome cgg ki mice signi x-associated result cos 7 cells presence skin fi broblasts panel cortex precgg neurons hagerman rj alternative mouse model fi ndings table fmr 1 premutation mbnl 1 feature subject university formation section genetic region cgg ki tassone f premutation alleles hippocampal transfection identi downloaded group sample hippocampu mrna levels staining
7 Most Recent Publications
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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
(Article)
Hunsaker, M.R. Greco, C. Hagerman, P.J. Willemsen, R.A. Hukema, R.K. Spath, M.A. Smits, A.P.T. Navarro, C.S. Tassone, F. Kros, J.M. Severijnen, L.A. Berry-Kravis, E.M. Berman, R.F. |
2011-10-01
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Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
(Article)
Tassone, F. Rubeis, S. de Carosi, C. La Fata, G. Serpa, G. Raske, C. Willemsen, R.A. Hagerman, P.J. Bagni, C. |
2011-08-01
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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
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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
(Article)
Sellier, C. Rau, F. Hagerman, P.J. Charlet-Berguerand, N. Liu, Y.X. Tassone, F. Hukema, R.K. Gattoni, R. Schneider, A. Richard, S. Willemsen, R. Elliott, D.J. |
2010-04-01
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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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Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
(Article)
Chen, Y. Tassone, F. Berman, R.F. Hagerman, P.J. Willemsen, R. Pessah, I.N. |
2009-10-21
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
(Article)
Willemsen, R. Unen, L. van Severijnen, L.A. Nieuwenhuizen, I.M. Schrier, M. Tassone, F. Oostra, B.A. Hoogeveen, A.T. Mientjes, E.J. Hagerman, P.J. Hoogeveen-Westerveld, M. Reis, S. Holstege, J. |
2003-01-01
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