rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations.
|
16102903 |
2005 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease.
|
16280683 |
2005 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD.
|
16298482 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
|
16511860 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease.
|
16966501 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD).
|
16966502 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157).
|
17044089 |
2006 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation.
|
17115391 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
|
17353388 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.
|
17440812 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domain called the activation segment.
|
17584768 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance.
|
17596714 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population.
|
17614198 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.
|
17880562 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our data suggest that the LRRK2 G2019S mutation plays an important role in the causality of familial and sporadic Parkinson disease (PD) in Israel and that gender affects its frequency among patients.
|
17938369 |
2007 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S mutation frequency is rather low in overall patients (0.8%) and in the familial group (1.7%), suggesting that it may be an uncommon cause of PD in Southern Italy.
|
18621566 |
2009 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
|
18805725 |
2009 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease.
|
19945904 |
2010 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results demonstrate biochemical abnormalities of alpha-synuclein, and increased oxidative stress damage and oxidative stress responses in the frontal cortex in PD linked with G2019S LRRK2 mutation not related with the presence of cortical LBs and in the absence of apparent cognitive deficits.
|
20232069 |
2010 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G2019S mutation in the LRRK2 gene is quite common in Egyptian patients with sporadic PD.
|
21699405 |
2011 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A common p.G2019S mutation (rs34637584:A>G) is responsible for up to 30-40% of PD cases in some ethnic populations.
|
21850687 |
2011 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest that mutant (G2019S) LRRK2 activates MKK4-JNK-c-Jun pathway in the SN and causes the resulting degeneration of SNpc dopaminergic neurons in PD transgenic mice.
|
22539006 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We decided to evaluate nuclear organization in the context of ageing-associated disorders by focusing on a leucine-rich repeat kinase 2 (LRRK2) dominant mutation (G2019S; glycine-to-serine substitution at amino acid 2019), which is associated with familial and sporadic Parkinson's disease as well as impairment of adult neurogenesis in mice.
|
23075850 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This comprehensive study confirms that p.Gly2019Ser is the most important genetic cause of PD known so far in Portugal and supports the contention that p.Arg1441His is also a PD-causing mutation.
|
23726462 |
2013 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No G2019S mutations were found in both patients with sporadic PD and controls.
|
24863511 |
2014 |