|
rs104893922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Taken together, deletions or mutations of the C terminus of SMN that result from proteolysis, splicing (SMNDelta7), or germ-line mutations (e.g., Y272C), produce a proapoptotic form of SMN that may contribute to neuronal death in SMA and perhaps other neurodegenerative disorders.
|
11078511 |
2000 |
|
rs1428103360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Taken together, deletions or mutations of the C terminus of SMN that result from proteolysis, splicing (SMNDelta7), or germ-line mutations (e.g., Y272C), produce a proapoptotic form of SMN that may contribute to neuronal death in SMA and perhaps other neurodegenerative disorders.
|
11078511 |
2000 |
|
rs104893768
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We show that expression of P23H, but not wild-type rhodopsin, results in a generalized impairment of the ubiquitin proteasome system, suggesting a mechanism for photoreceptor degeneration that links RP to a broad class of neurodegenerative diseases.
|
12091393 |
2002 |
|
rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The mice expressing the A53T human alpha-Syn, but not wild-type or the A30P variants, develop adult-onset neurodegenerative disease with a progressive motoric dysfunction leading to death.
|
12084935 |
2002 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The mice expressing the A53T human alpha-Syn, but not wild-type or the A30P variants, develop adult-onset neurodegenerative disease with a progressive motoric dysfunction leading to death.
|
12084935 |
2002 |
|
rs63750311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that (1) LB pathology can influence the clinical features of familial AD, (2) the E184D mutation of presenilin-1 may be associated with the LB formation through Abeta overproduction, although the process of LB formation is strongly affected by other unknown mechanisms, (3) in neurodegenerative disorders with LBs, there is a common pathophysiological background inducing NAC accumulation in neuritic plaques and astrocytes, and (4) the NAC accumulation in neuritic plaques is modulated by the abnormally aggregated tau protein.
|
12410385 |
2002 |
|
rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
|
rs121909715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF).
|
14596804 |
2003 |
|
rs121912432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Self-inactivation rates are further enhanced in a mutant SOD1 protein (L38V) linked to the fatal neurodegenerative disorder, familial amyotrophic lateral sclerosis.
|
12649272 |
2003 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previous reports have shown that the C677T polymorphism of methylenetetrahydrofolate reductase gene has been associated with neurodegenerative disorders.
|
15390052 |
2004 |
|
rs63750376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.
|
15122701 |
2004 |
|
rs63751068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.
|
15122701 |
2004 |
|
rs17125721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Glu318Gly polymorphism may be associated with risk for neurodegenerative disease; however, in the cases described here, it did not appear to be a risk factor.
|
16216949 |
2005 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders.
|
17119292 |
2006 |
|
rs28933979
|
|
|
0.030 |
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 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders.
|
17119292 |
2006 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date.
|
16250030 |
2006 |
|
rs752933837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the R659S mutation is susceptible to neuronal death and is involved in the pathogenesis of neurodegenerative diseases, including RP11.
|
16828200 |
2006 |
|
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 |
|
rs1049564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that the G51S PNP polymorphism is associated with a faster rate of cognitive decline in AD patients, highlighting the important role of purine metabolism in the progression of this neurodegenerative disorder.
|
17221831 |
2007 |
|
rs119467003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1).
|
17948061 |
2007 |
|
rs121912443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the light of the possibility that different SOD1 entities could be expressed also in other neurodegenerative disorders, as a sort of unifying event with AD and PD, we have investigated amyotrophic lateral sclerosis (ALS) using human neuroblastoma SH-SY5Y cells with mutated SOD1 gene H46R as cellular model.
|
17987632 |
2007 |
|
rs35801418
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex.
|
16865326 |
2007 |
|
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 |