|
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
|
24442578 |
2014 |
|
rs1481950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study identified rs1481950 within ATP6V1H influencing human CSF BACE activity, which indicated that ATP6V1H gene may play some roles in the pathogenesis of neurodegenerative diseases such as AD.
|
29751835 |
2018 |
|
rs766001707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect.
|
16630162 |
2006 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Understanding the role of brain-derived neurotrophic factor (BDNF) in synaptic plasticity and synaptogenesis, the impact of the BDNF Val66Met polymorphism in Alzheimer's disease-relevant endophenotypes - including episodic memory and hippocampal volume - and the technological progress in measuring synaptic changes in humans all pave the way for a 'synaptic repair' therapy for neurodegenerative diseases that targets pathophysiology rather than pathogenesis.
|
23674053 |
2013 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common human Val66Met polymorphism of BDNF has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders, and in the outcome of pro-adaptive and therapeutic treatments.
|
30067287 |
2018 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we review the role and relevance of the BDNF Val66Met polymorphism in neurodegenerative diseases, with particular emphasis on glaucoma, multiple sclerosis (MS), Alzheimer's disease (AD) and Parkinson's disease (PD).
|
29896439 |
2018 |
|
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders.
|
30448615 |
2019 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders.
|
30448615 |
2019 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Understanding the role of brain-derived neurotrophic factor (BDNF) in synaptic plasticity and synaptogenesis, the impact of the BDNF Val66Met polymorphism in Alzheimer's disease-relevant endophenotypes - including episodic memory and hippocampal volume - and the technological progress in measuring synaptic changes in humans all pave the way for a 'synaptic repair' therapy for neurodegenerative diseases that targets pathophysiology rather than pathogenesis.
|
23674053 |
2013 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we review the role and relevance of the BDNF Val66Met polymorphism in neurodegenerative diseases, with particular emphasis on glaucoma, multiple sclerosis (MS), Alzheimer's disease (AD) and Parkinson's disease (PD).
|
29896439 |
2018 |
|
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common human Val66Met polymorphism of BDNF has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders, and in the outcome of pro-adaptive and therapeutic treatments.
|
30067287 |
2018 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Yet the expression of BRAF(V600E) in the haematopoietic stem cell lineage causes leukaemic and tumoural diseases but not neurodegenerative disease.
|
28854169 |
2017 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Yet the expression of BRAF(V600E) in the haematopoietic stem cell lineage causes leukaemic and tumoural diseases but not neurodegenerative disease.
|
28854169 |
2017 |
|
rs587777606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7.
|
30903322 |
2019 |
|
rs755221106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spinocerebellar ataxia 42 (SCA42) is a neurodegenerative disorder recently shown to be caused by c.5144G > A (p.Arg1715His) mutation in CACNA1G, which encodes the T-type voltage-gated calcium channel Ca<sub>V</sub>3.1.
|
31229688 |
2019 |
|
rs1424266770
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |
|
rs646776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for common neurodegenerative diseases, we studied 304 patients with Parkinson's disease (PD), 217 individuals with Alzheimer's disease, 131 subjects with mild cognitive impairment, and 126 controls.
|
23398167 |
2013 |
|
rs104894201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CryAB R120G causes perinuclear formation of aggresomes containing preamyloid oligomer intermediates, which are wellknown as a primary toxic species in neurodegenerative disease.
|
22040875 |
2011 |
|
rs371557337
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we aimed to study TTR V30M aggregates effect in autophagy, a cellular mechanism crucial for cell survival that has been implicated in the development of several neurodegenerative diseases.
|
27382986 |
2016 |
|
rs387907043
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease.
|
25905915 |
2015 |
|
rs387907043
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we demonstrate that L115R and ΔL116 mutant proteins are mistargeted in neuroendocrine cells and form SDS-resistant aggregates, concordant with the properties of other mutant proteins linked to neurodegenerative disorders.
|
22902780 |
2012 |
|
rs75548401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GBA variant, p.Thr408Met, was found to have an allele frequency of 6.94% in SND cases which was significantly higher compared with normal (0%) and other neurodegenerative disease pathologies (0.74%), suggesting that it is associated with MSA.
|
30203094 |
2018 |
|
rs63751177
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for whole exome screen which revealed NCL type 11 due to homozygous mutation c.912G>A (p.Trp304Ter) in exon 9 of GRN gene (OMIM#614706).
|
30922528 |
2019 |
|
rs63751294
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We measured the frequency of Arg493X in 3405 unrelated patients with various neurodegenerative diseases using Taqman single-nucleotide polymorphism (SNP) genotyping.
|
17826340 |
2007 |
|
rs5848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that rs5848 was associated with an increased risk of neurodegenerative diseases in the homozygous (TT vs. CC: OR, 1.24; 95% CI, 1.10-1.39; P < 0.001) and recessive models (TT vs. CC + CT: OR, 1.23; 95% CI, 1.10-1.37; P < 0.001).
|
25578179 |
2015 |