|
rs121912438
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Intramuscular delivery of HGF-expressing recombinant AAV improves muscle integrity and alleviates neurological symptoms in the nerve crush and SOD1-G93A transgenic mouse models.
|
31376938 |
2019 |
|
rs121912438
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Studies in the SOD1(G93A) mouse show deposition of C1q and C3/C3b at the motor end-plate before neurological symptoms are apparent, suggesting that complement activation precedes neurodegeneration in this model.
|
27056040 |
2016 |
|
rs121912438
|
|
|
0.030 |
GeneticVariation |
BEFREE |
G93A SOD1 transgenic mice show an increase in proteasome activity and induction of immuno-proteasome subunits within spinal cord as they develop neurological symptoms.
|
17482163 |
2007 |
|
rs1290094897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similar results were observed for Val380Leu (G>C) and IVS4 + 30T>G polymorphisms which suggest their role in element concentration and neurological symptoms.
|
31512170 |
2020 |
|
rs1801582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similar results were observed for Val380Leu (G>C) and IVS4 + 30T>G polymorphisms which suggest their role in element concentration and neurological symptoms.
|
31512170 |
2020 |
|
rs377001714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a 20-year-old male with a novel c.461T>C (p.L154P) PGK1 mutation and clinical disease complicated by anemia and neurological symptoms.
|
30951021 |
2019 |
|
rs748860341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, two half-siblings with neurological symptoms and radiological signs of AOAD were reported and were not found to have any pathogenic variants in the GFAPα gene while further genetic testing by next generation sequencing revealed a c.1289G>A (p.Arg430His) variant in the alternative exon 7A of the GFAPε isoform.
|
30048824 |
2019 |
|
rs1170251457
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous non-sense XPA mutation (p.W235X) was found in the only patient with a history of early severe sunburn reaction and associated neurological symptoms.
|
29178624 |
2018 |
|
rs421016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study confirmed that GD patients with the Leu483Pro allele were prone to experience neurological symptoms.
|
29934114 |
2018 |
|
rs778361520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms.
|
28891236 |
2017 |
|
rs797045360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
He has few neurological symptoms without connective tissue disturbances; and a missense ATP7A variant, p.(Pro852Leu), which results in impaired protein trafficking while the copper transport function is spared.
|
28657131 |
2017 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both.
|
27863426 |
2016 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both.
|
27863426 |
2016 |
|
rs751037529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous c.850G>C mutation carriers were free of any neurological symptoms, consistent with a loss-of-function mechanism of the parkin mutations.
|
27177722 |
2016 |
|
rs76992529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, 91 (85%) of 107 patients with Val122Ile were from the United States, where Val122Ile subjects were younger and more often female and black than patients with wild-type disease, and had similar cardiac phenotype but a greater burden of neurologic symptoms (pain, numbness, tingling, and walking disability) and worse quality of life.
|
27386769 |
2016 |
|
rs1001179
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients homozygous for the CAT rs1001179 T allele characterized with later onset of WD [median (interquartile range) age: 29.0 (14.0) years vs. 22.0 (12.0) years, respectively, P < 0.004], later manifestation of hepatic symptoms [34.5 (14.0) years vs. 22.0 (12.0) years, P < 0.0009], and later presentation of neurological symptoms [37.0 (16.0) years vs. 28.0 (13.0) years, P < 0.03] than those having one or two C alleles.
|
24517502 |
2015 |
|
rs1341026713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course.
|
25595498 |
2015 |
|
rs571825723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course.
|
25595498 |
2015 |
|
rs63751287
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course.
|
25595498 |
2015 |
|
rs1396086494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms.
|
23850332 |
2014 |
|
rs63749806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms.
|
23850332 |
2014 |
|
rs80356726
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to development of full neurological symptoms of amyotrophic lateral sclerosis.
|
23317354 |
2013 |
|
rs367543041
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The index case, carrying the A382T mutation in the homozygous state, had an 8-year history of sporadic PD and 6 years later developed ALS and FTLD; his brother, carrying the same mutation in the homozygous state, and the other two family member carriers of the same mutation in the heterozygous state were without neurological signs and symptoms.
|
22398199 |
2012 |
|
rs118192200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a patient with PNH without other neurologic symptoms, we identified a novel KCNQ2 mutation predicting loss of a charged residue within the voltage sensor of K(V)7.2 (R207Q).
|
17872363 |
2007 |
|
rs13312995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, which was predicted to be "possibly damaging" and was found with significantly higher frequency than in healthy control subjects and in patients with NPHP1 mutations without neurologic symptoms (five of 26 versus four of 276 and three of 152 alleles; P < 0.001 and P < 0.002, respectively).
|
17409309 |
2007 |