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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: gane lw. 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: gane lw. 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
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ. Leehey MA, et al. Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. doi: 10.1212/01.wnl.0000281692.98200.f5. Epub 2007 Dec 5. Neurology. 2008. PMID: 18057320 Free PMC article.
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ. Hessl D, et al. Among authors: gane lw. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):115-21. doi: 10.1002/ajmg.b.30241. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 16184602
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ. McConkie-Rosell A, et al. Among authors: gane lw. J Genet Couns. 2007 Oct;16(5):593-606. doi: 10.1007/s10897-007-9099-y. Epub 2007 May 12. J Genet Couns. 2007. PMID: 17497108
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
Hagerman RJ, Hall DA, Coffey S, Leehey M, Bourgeois J, Gould J, Zhang L, Seritan A, Berry-Kravis E, Olichney J, Miller JW, Fong AL, Carpenter R, Bodine C, Gane LW, Rainin E, Hagerman H, Hagerman PJ. Hagerman RJ, et al. Among authors: gane lw. Clin Interv Aging. 2008;3(2):251-62. doi: 10.2147/cia.s1794. Clin Interv Aging. 2008. PMID: 18686748 Free PMC article. Review.
40 results