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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, Grigsby J, Bourgeois JA, Finucane B, Jacquemont S, Brunberg JA, Zhang L, Lin J, Tassone F, Hagerman PJ, Hagerman RJ, Leehey MA. Berry-Kravis E, et al. Among authors: brunberg ja. Mov Disord. 2007 Oct 31;22(14):2018-30, quiz 2140. doi: 10.1002/mds.21493. Mov Disord. 2007. PMID: 17618523 Review.
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.
Hagerman RJ, Coffey SM, Maselli R, Soontarapornchai K, Brunberg JA, Leehey MA, Zhang L, Gane LW, Fenton-Farrell G, Tassone F, Hagerman PJ. Hagerman RJ, et al. Among authors: brunberg ja. Am J Med Genet A. 2007 Oct 1;143A(19):2256-60. doi: 10.1002/ajmg.a.31920. Am J Med Genet A. 2007. PMID: 17726686
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).
Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ. Greco CM, et al. Brain. 2006 Jan;129(Pt 1):243-55. doi: 10.1093/brain/awh683. Epub 2005 Dec 5. Brain. 2006. PMID: 16332642
The fragile X premutation presenting as essential tremor.
Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grigsby J, Greco C, Jacquemont S, Tassone F, Lozano AM, Hagerman PJ, Hagerman RJ. Leehey MA, et al. Among authors: brunberg ja. Arch Neurol. 2003 Jan;60(1):117-21. doi: 10.1001/archneur.60.1.117. Arch Neurol. 2003. PMID: 12533098
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. Jacquemont S, et al. Among authors: brunberg ja. Am J Hum Genet. 2003 Apr;72(4):869-78. doi: 10.1086/374321. Epub 2003 Mar 12. Am J Hum Genet. 2003. PMID: 12638084 Free PMC article.
132 results