|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |