|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.
|
27604643 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic contribution of FUS to frontotemporal lobar degeneration.
|
20124201 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
|
19861302 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
|
19251627 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
|
19251628 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
Mutations in this position (R521C and R521H) are the most predominant mutations associated with amyotrophic lateral sclerosis (ALS).
|
27381509 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
Genetic ablation of the fly homologue of human PRMT1 (DART1) exacerbated the neurodegeneration induced by overexpression of FUS-WT and R521H FUS mutant in a Drosophila model of FUS-related ALS.
|
23620769 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
To characterize the cellular pathophysiological defect, we expressed the wild-type human gene (wtFUS) or the ALS-associated mutation R521H (mutFUS) gene in zebrafish larvae and characterized their motor (swimming) activity and function of their neuromuscular junctions (NMJs).
|
23771027 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis.
|
22848727 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
A c.1562G>A (p.R521H) missense mutation was identified in two patients with sporadic ALS.
|
22340366 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS.The mutation segregated with disease.
|
19922450 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS.
|
21158017 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
Further, we observed the known R521H mutation in 1 patient with ALS.
|
20124201 |
2010 |
|
General Paralysis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis.
|
22848727 |
2012 |
|
Motor neuron atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis.
|
22848727 |
2012 |
|
Abnormal behavior
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS.
|
21158017 |
2010 |
|
Behavior Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS.
|
21158017 |
2010 |