|
rs1182
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed associations between rs3842225 and rs1182 polymorphisms in TOR1A and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background.
|
25203860 |
2015 |
|
rs3842225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed associations between rs3842225 and rs1182 polymorphisms in TOR1A and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background.
|
25203860 |
2015 |
|
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia.
|
24375517 |
2014 |
|
rs1265889947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia.
|
25142429 |
2014 |
|
rs767114942
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel TOR1A mutation (c.581A>T, p.Asp194Val) was found in a patient with early-onset segmental dystonia harboring a THAP1 mutation (c.539T>C, p.Leu180Ser).
|
24862462 |
2014 |
|
rs886041099
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel TOR1A mutation (c.581A>T, p.Asp194Val) was found in a patient with early-onset segmental dystonia harboring a THAP1 mutation (c.539T>C, p.Leu180Ser).
|
24862462 |
2014 |
|
rs587776983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.
|
23595291 |
2013 |
|
rs587777074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.
|
23595291 |
2013 |
|
rs1801968
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.
|
20669276 |
2010 |