rs421016
|
|
|
0.730 |
GeneticVariation |
BEFREE |
α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
|
29310663 |
2018 |
rs421016
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Six GD3 patients, all homoallelic for L444P GBA1 mutations, have lived beyond 40years of age; and none has developed Parkinsonism.
|
27789132 |
2018 |
rs421016
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families.
|
27777137 |
2016 |
rs421016
|
|
G |
0.730 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1057519629
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
|
27541164 |
2016 |
rs1057518882
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555507479
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs756677845
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice.
|
31813996 |
2020 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
|
27692902 |
2016 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families.
|
27777137 |
2016 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We suggested that lovastatin is a potential disease-modifying agent for LRRK2-G2019S parkinsonism.
|
26931464 |
2016 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers.
|
26251043 |
2015 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.
|
24355527 |
2014 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurons and parkinsonism phenotypes of motor dysfunction.
|
22539006 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We aim to characterize these compensatory mechanisms and early disease-related changes by quantifying movement-related cerebral function in subjects at significantly increased risk of developing Parkinson's disease, namely carriers of a leucine-rich repeat kinase 2-G2019S mutation associated with dominantly inherited parkinsonism.
|
23250886 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported.
|
23938256 |
2012 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism.
|
22169201 |
2012 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using Cox proportional hazard models to evaluate the risk of parkinsonism among family members of PD subjects, having a daughter with PD compared with a son was associated with increased risk of parkinsonism in the parent (HR 2.59, p=0.014) as was having a child with a LRRK2 G2019S mutation (HR 3.19, p=0.003).
|
21511009 |
2011 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinsonism.
|
20621541 |
2010 |