Skip to search formSkip to main contentSkip to account menu

FRAGILE X TREMOR/ATAXIA SYNDROME

Known as: FXTAS, Fragile X Tremor Ataxia Syndrome, Fragile X-Associated Tremor Ataxia Syndrome 
An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects… 
National Institutes of Health

Related topics

Related topics

29 relations
Action TremorBradykinesiaCerebellar atrophyDysarthria

Broader (3)

AtaxiaFragile X SyndromeTremor

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Repeat‐associated non‐AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome
Repeat‐associated non‐AUG (RAN) translation drives production of toxic proteins from pathogenic repeat sequences in multiple… 
Highly Cited
2014
Highly Cited
2014
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile… 
Highly Cited
2013
Highly Cited
2013
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
Highly Cited
2013
Highly Cited
2013
Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
The human fragile X mental retardation 1 (FMR1) gene contains a (CGG)n trinucleotide repeat in its 5′ untranslated region (5′UTR… 
Highly Cited
2013
Highly Cited
2013
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor…
The majority of the human genome is transcribed but not translated, giving rise to noncoding RNAs (ncRNAs), including long ncRNAs… 
Review
2011
Review
2011
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with… 
Highly Cited
2010
Highly Cited
2010
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
FXTAS (fragile X-associated tremor/ataxia syndrome) is a late-onset neurodegenerative disorder that affects individuals who are… 
Highly Cited
2010
Highly Cited
2010
Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome
Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG… 
Highly Cited
2009
Highly Cited
2009
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated… 
Highly Cited
2007
Highly Cited
2007
Pur α Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor/Ataxia Syndrome
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)