Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

Fragile X associated tremor/ataxia (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 mRNA, becoming toxic through a ‘gain-of-function’. Since elevated levels of th...

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Bibliografische gegevens
Hoofdauteurs: Loesch, Danuta Z, Khaniani, Mahmoud S, Slater, Howard R, Rubio, Justin P., Bui, Quang M, Kotschet, Kate, D’Souza, Wendy, Venn, Alison, Kalitsis, Paul, Choo, Andy KH, Burgess, Trent, Johnson, Laura, Evans, Andrew, Horne, Malcolm
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2888465/
https://ncbi.nlm.nih.gov/pubmed/19796183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01275.x
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