|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recent genetic studies suggest that the Val66Met polymorphism of the BDNF gene is a genetic modifier in cranial-cervical dystonia in Caucasians.However, the finding is not consistent.
|
23816543 |
2013 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association was identified between Val66Met polymorphism and primary dystonia or cervical dystonia (P=0.309 and P=0.803 respectively).
|
23201631 |
2013 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recent genetic studies suggest that the Val66Met polymorphism of the BDNF gene is a genetic modifier in cranial-cervical dystonia in Caucasians.However, the finding is not consistent.
|
23816543 |
2013 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association was identified between Val66Met polymorphism and primary dystonia or cervical dystonia (P=0.309 and P=0.803 respectively).
|
23201631 |
2013 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The current findings suggest that the BDNF val(66)met polymorphism might play a role in the pathogenesis of cervical dystonia in some subjects.
|
19857550 |
2010 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The current findings suggest that the BDNF val(66)met polymorphism might play a role in the pathogenesis of cervical dystonia in some subjects.
|
19857550 |
2010 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We explored the influence of the Val66Met SNP of the BDNF gene on the risk of cranial and cervical dystonia in a cohort of 156 Italian patients and 170 age- and gender-matched healthy control subjects drawn from the same population.
|
19473353 |
2009 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We explored the influence of the Val66Met SNP of the BDNF gene on the risk of cranial and cervical dystonia in a cohort of 156 Italian patients and 170 age- and gender-matched healthy control subjects drawn from the same population.
|
19473353 |
2009 |
|
rs143888944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs149427020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs371288995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs533268185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs769617030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs770304347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD.
|
29057844 |
2017 |
|
rs2296793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population.
|
26704435 |
2016 |
|
rs3842225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population.
|
26704435 |
2016 |
|
rs529094238
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One likely pathogenic TOR1A mutation (c.385G>A, p.Val129Ile) was detected in an adult-onset cervical dystonia patient.
|
26297380 |
2015 |
|
rs1252185897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In our cohort we identified 1 pathogenic nonsense mutation (c.733C>T, p.R245*) in a patient with cervical dystonia.
|
24408567 |
2014 |
|
rs1239936594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Screening in subjects with adult-onset cervical dystonia identified 2 additional CIZ1 missense mutations (p.P47S and p.R672M).
|
22447717 |
2012 |