Genetic Conditions > fragile X-associated tremor/ataxia syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on fragile X-associated tremor/ataxia syndrome.

Galloway JN, Nelson DL. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol. 2009 Nov 1;4(6):785. PubMed citation
Gene Review: FMR1-Related Disorders
Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM. Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry. 2011 Nov 1;70(9):859-65. doi: 10.1016/j.biopsych.2011.05.033. Epub 2011 Jul 23. PubMed citation
Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007 Jan;6(1):45-55. PubMed citation
Li Y, Jin P. RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res. 2012 Jun 26;1462:112-7. doi: 10.1016/j.brainres.2012.02.057. Epub 2012 Mar 9. Review. PubMed citation
Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA. 2007 Apr;13(4):555-62. Epub 2007 Feb 5. PubMed citation
Tassone F, Iwahashi C, Hagerman PJ. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 2004 Jul;1(2):103-5. Epub 2004 Jul 17. PubMed citation
Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. Clin Genet. 2011 Sep;80(3):214-25. doi: 10.1111/j.1399-0004.2011.01723.x. Epub 2011 Jun 30. Review. PubMed citation


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