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Selected References of Consortium Members

and Affiliated Researchers


 

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)


Berry-Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G. (2003). Tremor and ataxia in fragile X premutation carriers: Blinded videotape study. Annals of Neurology, 53, 616-623
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Brunberg, J. A., Jacquemont, S., Hagerman, R. J., Berry-Kravis, E. M., Grigsby, J., Leehey, M. A., Tassone, F., Brown, W. T., Greco, C. M., & Hagerman, P. J. (2002). Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR: American Journal of Neuroradiology, 23, 1757-1766
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Greco, C. M., Hagerman, R. J., Tassone, F., Chudley, A. E., Del Bigio, M. R., Jacquemont, S., Leehey, M., & Hagerman, P. J. (2002). Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771
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Hagerman, P. J., Greco, C. M., & Hagerman, R. J. (2003). A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenetic & Genome Research, 100, 206-212
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Hagerman, P. J. & Hagerman, R. J. (2004). Fragile X-associated tremor/ataxia syndrome (FXTAS). Mental Retardation & Developmental Disabilities Research Reviews, 10, 25-30
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Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C. M., Brunberg, J. A., Tassone, F., Hessl, D., Harris, S. W., Zhang, L., Jardini, T., Gane, L. W., Ferranti, J., Ruiz, L., Leehey, M. A., Grigsby, J., & Hagerman, P. J. (2004). Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American Journal of Human Genetics, 74, 1051-1056
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Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. J. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130
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Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., Zhang, L., Grigsby, J., Jardini, T., Lewin, F., Berry-Kravis, E., Hagerman, P. J., & Hagerman, R. J. (2004). Aging in individuals with the FMR1 mutation. American Journal of Mental Retardation, 109, 154-164
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Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., Greco, C., Des, P., V, Jardini, T., Levine, R., Berry-Kravis, E., Brown, W. T., Schaeffer, S., Kissel, J., Tassone, F., & Hagerman, P. J. (2003). Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72, 869-878
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Jacquemont, S., Hagerman, R. J., Leehey, M. A., Hall, D. A., Levine, R. A., Brunberg, J. A., Zhang, L., Jardini, T., Gane, L. W., Harris, S. W., Herman, K., Grigsby, J., Greco, C. M., Berry-Kravis, E., Tassone, F., & Hagerman, P. J. (2004). Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Journal of the American Medical Association, 291, 460-469
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Leehey, M. A., Munhoz, R. P., Lang, A. E., Brunberg, J. A., Grigsby, J., Greco, C., Jacquemont, S., Tassone, F., Lozano, A. M., Hagerman, P. J., & Hagerman, R. J. (2003). The fragile X premutation presenting as essential tremor. Archives of Neurology, 60, 117-121
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Tassone, F., Hagerman, R. J., Garcia-Arocena, D., Khandjian, E. W., Greco, C. M., & Hagerman, P. J. (2004). Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. Journal of Medical Genetics, 41, e43.