rs267607134
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
rs727502811
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
rs267607134
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel TOR1A missense mutation (c.613T-->A, p.F205I) in a patient with late onset, focal dystonia is reported.
|
19955557 |
2010 |
rs727502811
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia.
|
19284587 |
2009 |
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia.
|
30656493 |
2019 |
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While the pathophysiology and genetic susceptibility in BSP and focal dystonia are only partially understood, it seems that BDNF and rs6265 may constitute one essential risk factor that is heavily involved.
|
30519954 |
2019 |
rs1182
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively.
|
28081261 |
2017 |
rs1801968
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively.
|
28081261 |
2017 |
rs760743322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
rs3842225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia.
|
20669276 |
2010 |