New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline and parkinsonism in individuals who carry between 55-200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series of pat...

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Bibliographic Details
Main Authors: Avram eFraint, Padmaja eVittal, Aimee eSzewka, Bryan eBernard, Elizabeth eBerry-Kravis, Deborah eHall
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-10-01
Series:Frontiers in Genetics
Subjects:
FMR1
FXS
premutation
FXTAS
CGG
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00365/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00365/full

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