|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121918413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutant allele GLRA1 (P250T) of the glycine receptor alpha1 subunit gene underlies a dominant form of the human neurological disorder, hyperekplexia.
|
12359314 |
2002 |
|
rs1467252662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutant allele GLRA1 (P250T) of the glycine receptor alpha1 subunit gene underlies a dominant form of the human neurological disorder, hyperekplexia.
|
12359314 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency.
|
9453374 |
1997 |
|
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 |
|
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 |
|
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 |
|
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 |