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rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS.
|
15099020 |
2004 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
High expression of alpha-synuclein A30P in the Tg5093 line was associated with a progressive motor disorder with rigidity, dystonia, gait impairment, and tremor.
|
12498958 |
2003 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found.
|
15886424 |
2006 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs33939927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |
|
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 |
|
rs34637584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor.
|
17151837 |
2007 |
|
rs35986369
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS.
|
15099020 |
2004 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs63750756
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation.
|
12573870 |
2003 |
|
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 |
|
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 |