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… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X… (More)
  • figure 1
  • figure 2
  • table 1
Is this relevant?
Review
2015
Review
2015
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all… (More)
Is this relevant?
Highly Cited
2013
Highly Cited
2013
Fragile X-associated tremor ataxia syndrome (FXTAS) results from a CGG repeat expansion in the 5' UTR of FMR1. This repeat is… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2010
Highly Cited
2010
FXTAS (fragile X-associated tremor/ataxia syndrome) is a late-onset neurodegenerative disorder that affects individuals who are… (More)
Is this relevant?
Highly Cited
2009
Highly Cited
2009
After our initial discovery of reduced expression of several subunits of the GABA(A) receptor in two different animal models for… (More)
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves gait… (More)
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently recognized neurodegenerative disorder in fragile X premutation… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a… (More)
Is this relevant?