|
rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previously, we reported that intracranial inoculation of brain homogenate from multiple system atrophy (MSA) patient samples produces neurological disease in the transgenic (Tg) mouse model TgM83<sup>+/-</sup>, which uses the prion protein promoter to express human α-synuclein harboring the A53T mutation found in familial Parkinson's disease (PD).
|
30690664 |
2019 |
|
rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.
|
31230104 |
2019 |
|
rs1051169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analyses showed that the rs1051169 polymorphism was associated with an increased risk of neurologic disorder in SLE patients (C vs. G: OR=1.78, 95% CI, 1.22-2.59, p=0.003; GC vs. GG: OR=2.33, 95% CI, 1.14-4.77, P=0.019; CC vs. GG: OR=3.02, 95% CI, 1.39-6.53, p=0.004; CC+GC vs. GG: OR=2.57, 95% CI=1.31-5.04, p=0.005).
|
31271591 |
2020 |
|
rs141138948
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygosity for the EXOSC3 variant c.395A > C, p.(Asp132Ala) is proposed to lead to a rather mild phenotype compared to compound-heterozygous EXOSC3-pathogenic-variants carriers with lethal neurological disease in very early childhood.
|
30986545 |
2020 |
|
rs1258159645
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs1280914556
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.
|
31230104 |
2019 |
|
rs13963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although our findings do not support an association between CLEC3B p.S106G and aging without neurological disease (P=0.89), we confirmed the association between the APOE ε2 allele and better survival without neurological disease (P=0.001).
|
31570938 |
2019 |
|
rs1471980111
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Likewise, mutation I364M, which causes the neurological disorder cerebellar ataxia, mental retardation, and disequilibrium (CAMRQ) syndrome, strongly interfered with the electrogenic lipid translocation.
|
31371510 |
2019 |
|
rs17849781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs1800566
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
|
rs374651285
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.
|
31230104 |
2019 |
|
rs62643364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Previously, we reported that intracranial inoculation of brain homogenate from multiple system atrophy (MSA) patient samples produces neurological disease in the transgenic (Tg) mouse model TgM83<sup>+/-</sup>, which uses the prion protein promoter to express human α-synuclein harboring the A53T mutation found in familial Parkinson's disease (PD).
|
30690664 |
2019 |
|
rs756915170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.
|
31230104 |
2019 |
|
rs121434444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs121908345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs1364050643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
|
29908077 |
2018 |
|
rs267607102
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proteinopathy of D169G and K263E mutants at the RNA Recognition Motif (RRM) domain of tar DNA-binding protein (tdp43) causing neurological disorders: A computational study.
|
28330421 |
2018 |
|
rs80356717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proteinopathy of D169G and K263E mutants at the RNA Recognition Motif (RRM) domain of tar DNA-binding protein (tdp43) causing neurological disorders: A computational study.
|
28330421 |
2018 |
|
rs114925667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We further provide confirmatory evidence that p.Ala371Thr is a hypomorphic mutation, by presenting three adult homozygotes who show no signs of neurological disease.
|
28965491 |
2017 |
|
rs1801252
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Because the primary component of MACE was ischemic stroke, we tested the association of Ser49Gly with ischemic stroke among 41 475 individuals of European and African ancestry in the NINDS (National Institute of Neurological Disorders and Stroke) SiGN (Stroke Genetics Network).
|
28351962 |
2017 |
|
rs12252
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The only Spanish patient homozygous for rs12252-C had a neurological disorder (a known risk factor for severe IVI) and mild influenza.
|
27492307 |
2016 |
|
rs28939711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme.
|
26940873 |
2016 |
|
rs397514662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme.
|
26940873 |
2016 |
|
rs587777162
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Until now, only one missense mutation (c.208G > A, p.Gly70Ser) in EEF1A2 has been reported in two independent patients with neurological disease.
|
24697219 |
2015 |
|
rs1805032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently a model has been proposed according to which failed nuclear translocation of the truncated β(4) subunit R482X mutation resulted in altered transcriptional regulation and consequently in neurological disease.
|
24875574 |
2014 |