|
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 |
|
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 |
|
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 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.
|
15955629 |
2005 |
|
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 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
|
16149095 |
2005 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
|
16240353 |
2005 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S is the most common genetic determinant of Parkinson's disease identified so far.
|
16272257 |
2005 |
|
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 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort.
|
16614029 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
|
16622859 |
2006 |
|
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 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Herein we have assessed the frequency of G2019S in a referral-based series of 225 patients with Parkinson's disease (PD) from the region of Asturias, Northern Spain.
|
16643318 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD.
|
16671078 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease.
|
16728648 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
|
16750929 |
2006 |
|
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 |
|
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 |
|
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 |
|
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 |