|
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 |
|
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 |
|
rs74315322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All the three patients with Q190X mutations who were alive and available for evaluation developed neurological disease with decreased cognitive function, and three of four patients who reached 10 years developed epilepsy.
|
18513342 |
2008 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121913223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid.
|
21310277 |
2011 |
|
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 |
|
rs80358261
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.V39M, described in the homozygous state in two patients with an adult-onset neurological disease, resulted in the synthesis of apparently functional recombinant proteins correctly targeted to lysosomes.
|
15937921 |
2005 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1064039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3.
|
20849835 |
2010 |
|
rs1457713736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3.
|
20849835 |
2010 |
|
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 |
|
rs1475170339
|
|
|
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 |