rs34016896
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower.
|
29564728 |
2018 |
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |
rs74315431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.
|
26566915 |
2016 |
rs786205232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor.
|
27733563 |
2016 |
rs12593813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MAP2K5/SKOR1 marker rs12593813 was associated with higher frequency of tremor in the Tel-Aviv cohort (61.0% vs. 46.5%, p = 0.001, dominant model).
|
25817513 |
2015 |
rs76732092
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age.
|
26108367 |
2015 |
rs80356727
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age.
|
26108367 |
2015 |
rs900147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(-4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(-2)).
|
26507264 |
2015 |
rs11868035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor.
|
24514572 |
2014 |
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
rs1564282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor.
|
24514572 |
2014 |
rs76763715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
rs3794087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotypic and allelic frequencies of rs3794087 did not differ significantly between patients with ET and controls and were unrelated with the age at onset of tremor or sex.
|
23949322 |
2013 |
rs1052553
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor.
|
22911817 |
2012 |
rs4292394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
rs6600879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
rs6600880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
rs6600893
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
rs7439366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
rs3810651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex.
|
21422964 |
2011 |
rs6280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We did not identify any effect of DRD3 Ser9Gly on tremor in PD, even when regarding various symptom combinations to avoid missing a weak effect on the phenotype.
|
20434388 |
2010 |
rs104894158
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, Egr2(I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days.
|
19244508 |
2009 |
rs281865051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls.
|
18435766 |
2008 |
rs33939927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |