|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Such suggestions are relevant mainly for people at putatively high risk of developing AD (i.e., older adults with mild cognitive impairment subtypes) or PD (i.e., older adults with either Mild Parkinsonian signs or LRRK2 G2019S mutation).
|
28588547 |
2017 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population.
|
17469194 |
2007 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations.
|
16939701 |
2006 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease.
|
17050822 |
2006 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The present case confirms that clinical PD caused by G2019S mutations can be associated with non-specific nigral degeneration without Lewy bodies.
|
17210620 |
2007 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.
|
15955629 |
2005 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent manner in a rat model of Parkinson's disease.
|
25731749 |
2015 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S mutation was present in 3 Ashkenazi Jewish subjects (5.45%); all of them reported family history of PD in first-degree relatives.
|
23340200 |
2013 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
|
16240353 |
2005 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review.
|
19945904 |
2010 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In examining the effects of PD-associated mutations and risk factors on protein function, we found that conserved substitutions such as G2019S affect human and mouse LRRK2 proteins similarly, but variation around position 2385, which is not fully conserved between humans and mice, induces divergent in vitro behavior.
|
30291536 |
2019 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S LRRK2 mutation is more common in both familial (37-42%) and apparently sporadic PD (41%) in North African Arabs than in Europeans and North Americans (2-3%).
|
18442138 |
2008 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A G2019S molecular test for PD would be highly specific, technically simple, and inexpensive.
|
17020475 |
2006 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G2019S mutation in LRRK2 represents the most clinically relevant PD-causing mutation and has been found in both familial and sporadic forms of the disorder.
|
20544233 |
2010 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These aforementioned findings suggest that LRRK2-G2019S and SNCA-triplication iPSC-derived DA neurons exhibit early phenotypes linked to PD.
|
22538490 |
2012 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort.
|
20933457 |
2010 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To test for an association between the LRRK2-G2019S mutation and gait, we studied 52 first-degree relatives of patients with Parkinson's disease (PD) who carry this mutation.
|
21280089 |
2011 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We propose G2019S knock-in mice as a presymptomatic Parkinson's disease model, useful to investigate the pathogenic interaction among genetics, aging, and internal or environmental factors leading to the disease.
|
28292328 |
2017 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results confirm that the G2019S mutation is a relevant cause of sporadic PD cases in the Italian population and stress the importance of performing this genetic test, which has important implications for genetic counselling.
|
17235449 |
2007 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the most common PD causing mutation identified to date.
|
16467219 |
2006 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Herein, we report that the most common neuropathology of G2019S-associated Parkinson's disease is Lewy body disease.
|
16437559 |
2006 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
G2019S is the most common genetic determinant of Parkinson's disease identified so far.
|
16272257 |
2005 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
SIGNIFICANCE OF THE STUDY: Leucine-rich repeat kinase 2 (LRRK2) is the most common genetic cause of Parkinson disease (PD), and the most prevalent pathogenic mutation, G2019S, increases its kinase activity.
|
30411383 |
2018 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.
|
24355527 |
2014 |
|
rs34637584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Individuals possessing gain of function mutations in the kinase domain such as the most prevalent G2019S mutation have been associated with an increased risk for the development of Parkinson's disease (PD).
|
28245354 |
2017 |