rs34637584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The G2019S mutation in leucine-rich repeat kinase 2 (<i>LRRK2</i>) is a prevalent cause of late-onset Parkinson's disease, producing psychiatric and motor symptoms, including depression, that are indistinguishable from sporadic cases.
|
30249796 |
2018 |
rs34637584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
G2019S carriers do not manifest changes in gray matter volume or diffusivity parameters in Parkinson's disease-related structures prior to the appearance of motor symptoms.
|
24482120 |
2014 |
rs34637584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Like in IPD, disturbances such as hyposmia, depression, constipation and excessive daytime sleepiness may antedate the onset of classical motor symptoms in LRRK2-G2019S-PD.
|
25330404 |
2014 |
rs121912438
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset.
|
24040091 |
2013 |
rs121912438
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, we have recently reported elevated heart rate and blood pressure in transgenic (TG) mice carrying the SOD1 mutant form of the human SOD1 transgene (SOD1-G93A) even prior to the appearance of motor symptoms.
|
23607704 |
2013 |
rs34637584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD.
|
21954089 |
2011 |
rs121912438
|
|
|
0.040 |
GeneticVariation |
BEFREE |
After identification of the clinical onset in each female G93A mutant SOD1 transgenic mouse, we intraperitoneally administered multiple doses of edaravone to the mice and observed their motor symptoms.
|
18718468 |
2008 |
rs121912438
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice.
|
16478527 |
2006 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Chronic isolation stress is associated with increased colonic and motor symptoms in the A53T mouse model of Parkinson's disease.
|
31709672 |
2020 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The presence of serotonergic pathology in premotor A53T SNCA carriers preceded development of dopaminergic pathology and motor symptoms and was associated with disease burden, highlighting the potential early role of serotonergic pathology in the progression of Parkinson's disease.
|
31229470 |
2019 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genomic DNA levels of mutant alpha-synuclein correlate with non-motor symptoms in an A53T Parkinson's disease mouse model.
|
29355568 |
2018 |
rs11931074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study shows for the first time that SNCA rs11931074 polymorphism might modulate brain functional alterations and correlate with motor symptoms in Chinese PD patients.
|
31243602 |
2019 |
rs1224426272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of serotonergic pathology in premotor A53T SNCA carriers preceded development of dopaminergic pathology and motor symptoms and was associated with disease burden, highlighting the potential early role of serotonergic pathology in the progression of Parkinson's disease.
|
31229470 |
2019 |
rs387907264
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although profilin 1 C71G was only expressed during development, adult mice presented with some ALS-associated pathology and motor symptoms.
|
31611772 |
2019 |
rs62643364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic DNA levels of mutant alpha-synuclein correlate with non-motor symptoms in an A53T Parkinson's disease mouse model.
|
29355568 |
2018 |
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Data from two distinct, unmedicated, early-stage PD cohorts suggest that carrying two copies of the rs6265 Met66 allele (∼4% of the population) is associated with less severity in motor symptoms and potentially a slower rate of progression.
|
29759928 |
2018 |
rs6821591
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PPARGC1α rs6821591 was also associated with faster motor symptom progression as measured with the UPDRS-III (β = 0.234; p = 0.001).
|
29630901 |
2018 |
rs6280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariate regression analysis revealed that DRD3 p.Ser9Gly (rs6280) heterozygous variant CT (OR = 2.22, 95% CI: 1.03-4.86, p = 0.041), higher daily Levodopa equivalent doses (LED) of drugs (for 100 mg LED, OR = 1.14, 95% CI: 1.01-1.29, p = 0.041), current dopamine agonist but not Levodopa use (OR = 2.16, 95% CI: 1.03-4.55, p = 0.042) and age of onset of motor symptoms under 50 years (OR 2.09, 95% CI: 1.05-4.18, p = 0.035) were independently associated with ICD.
|
27325396 |
2016 |
rs34778348
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Non-motor symptoms in Chinese Parkinson's disease patients with and without LRRK2 G2385R and R1628P variants.
|
25062988 |
2015 |
rs1475170339
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset.
|
24040091 |
2013 |
rs2435207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, it was reported that a variation (rs2435207) in the MAPT gene region influenced the age of motor symptoms onset (AO) in 44 PD patients from 19 families, carriers of leucine-rich repeat kinase 2 (LRRK2) mutations, all of European and North American origin.
|
21898123 |
2012 |
rs7665116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results do not support rs7665116 as a modifier of AO of motor symptoms, as we found evidence for a dramatic effect of phenotypic (AO) and genotypic (MAF) stratification among European cohorts that was not considered in previously reported association studies.
|
22825315 |
2012 |
rs63751273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms.
|
17764851 |
2007 |