Essential Tremor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Focused ultrasound thalamotomy (FUS-T) was recently approved for the treatment of refractory essential tremor (ET).
|
29579287 |
2019 |
Essential Tremor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Magnetic resonance-guided focused ultrasound thalamotomy (FUS-T) is an emerging treatment for essential tremor (ET).
|
31690945 |
2019 |
Essential Tremor
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent discoveries linking LINGO1, FUS and TENM4 to essential tremor have been met with cautious optimism since reproducibility and pathogenicity have been contentious in previously implicated genes.
|
26411503 |
2016 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, a pathogenic FUS-Q290X mutation has been reported in a large ET-affected family; however, the pathophysiologic mechanism underlying FUS-linked ET is unknown.
|
27395408 |
2016 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published FUS mutation segregating in a large ET family.
|
25631824 |
2015 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The entire coding sequence of FUS in 217 patients diagnosed with ET was analyzed and two missense variants in 219 healthy controls were genotyped by Sanger sequencing.
|
23834483 |
2014 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, a mutation located in the nuclear export signal (NES) of the FUS gene has been reported to cause an autosomal dominant form of familial Essential tremor.
|
25375143 |
2014 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings and previous studies have shown that variants within the FUS gene are not a common cause of PD or ET, in comparison to their role in ALS.
|
24262168 |
2014 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the FUS gene (fused in sarcoma) was found in one ET family by exome sequencing.
|
24532269 |
2014 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family.
|
24080306 |
2014 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a study that involved 7,548 subjects, we first sequenced all the exon and exon-intronic boundaries of FUS in 84 ET samples.
|
23825177 |
2013 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the FUS mutations associated with risk of Essential Tremor are probably a rare occurrence.
|
23601511 |
2013 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.
|
23731953 |
2013 |
Essential Tremor
|
0.100 |
Biomarker
|
disease |
BEFREE |
We evaluated an association between ET and SNPs in the FUS/TLS gene by genotyping four haplotype tagging SNPs in all 259 ET cases and 262 controls.
|
23114103 |
2013 |
Essential Tremor
|
0.100 |
Biomarker
|
disease |
BEFREE |
FUS in familial essential tremor - the search for common causes is still on.
|
23660545 |
2013 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor.
|
23582660 |
2013 |
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Functional considerations suggest that the pathogenic effects of ET-specific FUS mutations are different from the effects observed when FUS is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET FUS nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis FUS mutant transcripts are not.
|
22863194 |
2012 |