|
rs9637454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neither TMEM106B (rs1990622_T), KCNMB2 (rs9637454_A), nor any of the non-risk alleles were associated with brain atrophy.
|
27003218 |
2016 |
|
rs908867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No SNPs were significantly associated with baseline brain volume measures, however six SNPs were significantly associated with hippocampal and/or whole brain atrophy over two years (rs908867, rs11030094, rs6265, rs10501087, rs1157659, rs1491850).
|
24086677 |
2013 |
|
rs895293055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy.
|
25446406 |
2015 |
|
rs878853325
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs878853324
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs878853323
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs878853322
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs869320624
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
|
27657687 |
2017 |
|
rs869320624
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
|
26942288 |
2016 |
|
rs864309505
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs80338700
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs796052243
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs796052019
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp).
|
30014764 |
2018 |
|
rs776969714
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs772037717
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
|
27182039 |
2016 |
|
rs769236847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband from the second family was homozygous for c.146G > A (p.R49Q) and manifested myoclonic seizures, developmental delay, coarse hair and diffuse cortical atrophy.
|
30978478 |
2019 |
|
rs759834365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BDNF Val66Met polymorphism is associated with cognitive impairment and brain atrophy among the non-demented elderly, APOEɛ4 non-carriers and A + subgroup, implying the potential of the Val66Met polymorphism as an important genetic factor for AD-related neurodegeneration.
|
30775992 |
2019 |
|
rs749203329
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs7354779
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the effect of a damaging coding variant within the DNA methyltransferase gene DNMT3L (R278G, A/G) by examining B vitamin intake, homocysteine levels, cognitive performance, and brain atrophy in individuals in the VITACOG study of mild cognitive impairment and the TwinsUK cohort.
|
30877840 |
2019 |
|
rs730882147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy.
|
25446406 |
2015 |
|
rs73069071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, both rs704180 and rs73069071 risk genotypes were associated with widespread brain atrophy visualized by MRI (Alzheimer's Disease Neuroimaging Initiative data; n = 1239).
|
27815632 |
2016 |
|
rs7127507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we examined nine BDNF single-nucleotide polymorphisms (SNPs; rs908867, rs11030094, rs6265, rs10501087, rs1157659, rs1491850, rs11030107, rs7127507 and rs12273363) previously associated with brain atrophy or memory deficits in mTBI.
|
28755387 |
2018 |
|
rs704180
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, both rs704180 and rs73069071 risk genotypes were associated with widespread brain atrophy visualized by MRI (Alzheimer's Disease Neuroimaging Initiative data; n = 1239).
|
27815632 |
2016 |
|
rs672601366
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs63751273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients.
|
29568692 |
2018 |