|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.
|
15955629 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
|
16240353 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S is the most common genetic determinant of Parkinson's disease identified so far.
|
16272257 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We amplified and sequenced the coding region of LRRK2 from genomic DNA by PCR, and identified a heterozygous mutation (Gly2019 ser) present in four of 61 (6.6%) unrelated families with Parkinson's disease and autosomal dominant inheritance.
|
15680456 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
|
16149095 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls.
|
15680455 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease.
|
15680457 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
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
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Subsequently, 42 family members of the 13 probands were examined; 22 have an LRRK2 G2019S substitution, 7 with a diagnosis of PD.
|
15726496 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD).
|
16157909 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.
|
16102999 |
2005 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.
|
17078063 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A G2019S molecular test for PD would be highly specific, technically simple, and inexpensive.
|
17020475 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
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
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease.
|
16728648 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G.
|
17097110 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
|
16960813 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
One specific LRRK2 mutation, G2019S, was reported in 18% of people with PD of Ashkenazi descent, supporting a founder effect in this population.
|
16632201 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S mutation in the LRRK2 gene is reportedly a common cause of familial Parkinson's disease (PD) and may also have a significant role in nonfamilial PD.
|
16250030 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant.
|
16817197 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
|
16622859 |
2006 |
|
rs34637584
|
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been identified in several populations of patients with parkinsonism, including Ashkenazi Jewish subjects with Parkinson disease.
|
16781064 |
2006 |