|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs398122370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations.
|
10790216 |
2000 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |