|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs80338777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred.
|
11034874 |
2000 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found.
|
15886424 |
2006 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |