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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
The most common mutation in both familial and sporadic PD is the G2019S mutation of leucine-rich repeat kinase 2 (LRRK2) with high prevalence in Ashkenazi Jewish patients and in North African Berber and Arab patients.
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31330122 |
2019 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
A Y2018F mutation creates a hyperactive phenotype similar to the familial mutation G2019S.
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31292254 |
2019 |
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rs34637584
|
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0.100 |
GeneticVariation |
BEFREE |
The most prevalent PD associated mutation, LRRK2-G2019S is linked to familial and sporadic cases.
|
31621607 |
2019 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
The mutation-specific postsynaptic effects caused by human A53T α-synuclein will help us better understand the neurobiological basis of this specific form of familial PD.
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30249789 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M).
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29288430 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
In this study, we compared the effect of striatal injection of high-capacity adenoviral vectors expressing either a kinase-overactive LRRK2 with the familial G2019S mutation or a kinase-inactive LRRK2 variant in young and old C57BL/6J mice.
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29550548 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts.
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29665080 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
Here, the impact of the p.G2019S mutation of leucine-rich repeat kinase 2 (LRRK2), which is most frequently associated with familial and sporadic PD, on α-synuclein pathology was investigated.
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30172844 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
We find that expression of familial mutant G2019S LRRK2 does not dramatically elevate the pathological burden of α-synuclein or neurodegeneration in neurons.
|
29855356 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
The frequency of LRRK2 G2019S mutation was 5.8% in familial and 0.5% in sporadic PD cases.
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30146349 |
2018 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD).
|
28251720 |
2017 |
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rs34637584
|
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|
0.100 |
GeneticVariation |
BEFREE |
The p.G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) has been identified as the most prevalent genetic cause of familial and sporadic Parkinson's disease (PD).
|
28826027 |
2017 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD).
|
28683740 |
2017 |
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rs34637584
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0.100 |
GeneticVariation |
BEFREE |
Among such pathogenic mutations, Gly2019Ser mutation in the LRRK2 kinase domain is the most frequent cause of familial PD in Caucasians and is also found in some apparently sporadic PD cases.
|
26403521 |
2016 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Concurrently, intracerebral injection of pathological alpha-synuclein into transgenic mice overexpressing human wild-type alpha-synuclein, or human alpha-synuclein with the familial A53T mutation, or into wild-type mice causes spreading of alpha-synuclein pathology in the CNS.
|
26612754 |
2015 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology.
|
24833599 |
2014 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance.
|
24313877 |
2014 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
To determine whether CLR01 was effective in vivo, we tested the compound in mice expressing TTR V30M, a model of familial amyloidotic polyneuropathy, which recapitulates the main pathological features of the human disease.
|
24459092 |
2014 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
|
25550818 |
2014 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine.
|
23462670 |
2013 |
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rs34637584
|
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0.100 |
GeneticVariation |
BEFREE |
G2019S, the most frequent mutation, is responsible for both familial and sporadic cases of PD.
|
23227859 |
2013 |
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rs34637584
|
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0.100 |
GeneticVariation |
BEFREE |
In the remaining 251 PD patients (25 familial and 226 sporadic) we found ten additional carriers of the heterozygous p.Gly2019Ser</span> and no carriers of the other mutations.
|
23726462 |
2013 |
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rs34637584
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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 |
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rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
(G2019S) mutation of leucine-rich repeat kinase 2 (LRRK2) is the most common genetic cause of both familial and sporadic Parkinson's disease (PD) cases.
|
22539006 |
2012 |
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rs34637584
|
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0.100 |
GeneticVariation |
BEFREE |
The missense mutation G2019S is the most common LRRK2 mutation and has been identified in both familial and sporadic PD cases.
|
23126385 |
2012 |