|
rs1800014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations.
|
10790216 |
2000 |
|
rs398122370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations.
|
10790216 |
2000 |
|
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 |
|
rs749191312
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative real-time PCR analysis of brain, spinal cord and muscle tissues of the mSOD1(G93A) and controls at various time points during the progression of the neurological disease showed differential expression of the four identified biomarkers in correlation with (i) the tissue type, (ii) the stage of the disease and (iii) the gender of the animals, creating thus a novel spatiotemporal molecular signature of ALS.
|
23836781 |
2013 |
|
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 |
|
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 |
|
rs771884087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative real-time PCR analysis of brain, spinal cord and muscle tissues of the mSOD1(G93A) and controls at various time points during the progression of the neurological disease showed differential expression of the four identified biomarkers in correlation with (i) the tissue type, (ii) the stage of the disease and (iii) the gender of the animals, creating thus a novel spatiotemporal molecular signature of ALS.
|
23836781 |
2013 |
|
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 |
|
rs121912438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative real-time PCR analysis of brain, spinal cord and muscle tissues of the mSOD1(G93A) and controls at various time points during the progression of the neurological disease showed differential expression of the four identified biomarkers in correlation with (i) the tissue type, (ii) the stage of the disease and (iii) the gender of the animals, creating thus a novel spatiotemporal molecular signature of ALS.
|
23836781 |
2013 |
|
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 |
|
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 |
|
rs28933979
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of 8 family members, 5 were evaluated and found to be heterozygous for ATTR Val30Met; a family history found no relative with the similar neurologic disorders.
|
11709003 |
2001 |
|
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 |