|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case.
|
31124595 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TDP-43 are one cause of familial amyotrophic lateral sclerosis.
|
30905713 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.
|
29621978 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Optineurin (OPTN) is a causative gene in familial amyotrophic lateral sclerosis (ALS) with transactivation response element DNA-binding protein of 43 kDa (TDP-43) protein pathology.
|
29272468 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the superoxide dismutase (SOD1) gene account for ∼15% and in the transactive response DNA binding protein (TARDBP) gene for ∼5% of familial amyotrophic lateral sclerosis (FALS) cases.
|
26630559 |
2016 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation.
|
26908597 |
2016 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the profilin 1 (PFN1) gene have been identified as a cause of familial amyotrophic lateral sclerosis (ALS), and neuropathological studies indicate that TDP-43 is accumulated in brains of patients with PFN1 mutation.
|
27432186 |
2016 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An autopsy case of familial amyotrophic lateral sclerosis with a TARDBP Q343R mutation.
|
26096467 |
2015 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neuronal mitochondrial morphology abnormalities occur in models of familial amyotrophic lateral sclerosis (ALS) associated with SOD1 and TDP43 mutations.
|
24154542 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To examine the contribution of these potentially toxic mechanisms in vivo, we generated transgenic mice expressing human TDP-43 containing the familial amyotrophic lateral sclerosis-linked M337V mutation and identified two lines that developed neurological phenotypes of differing severity and progression.
|
24466128 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.
|
23235148 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the TARDBP gene encoding the TAR DNA-binding protein 43 (TDP-43) have been identified in some familial amyotrophic lateral sclerosis (ALS) and sporadic ALS patients.
|
23327806 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS).
|
23874513 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for ~60% of familial amyotrophic lateral sclerosis in Italy.
|
22366794 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
The RNA-binding proteins TAR DNA-binding protein (TDP-43) and fused in sarcoma (FUS) play central roles in neurodegeneration associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U).
|
21956718 |
2011 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To present the relationship between TARDBP gene mutation and clinicopathologic findings of a Japanese pedigree affected by familial amyotrophic lateral sclerosis (FALS).
|
21956716 |
2011 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases.
|
20598774 |
2011 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Yet, mutations in TARDBP, the gene encoding these inclusions are associated with only 3% of sporadic and familial amyotrophic lateral sclerosis.
|
21752789 |
2011 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the CuZn superoxide dismutase (SOD1) and TAR DNA-binding protein 43 (TDP-43) genes are linked to familial amyotrophic lateral sclerosis, ALS1 and ALS10, respectively.
|
20933032 |
2010 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
TDP-43 is an evolutionarily conserved RNA-binding protein implicated in the pathogenesis of frontotemporal dementia (FTD), sporadic and familial amyotrophic lateral sclerosis (ALS), and possibly other neurodegenerative diseases.
|
19781077 |
2009 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
(2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.Nat.Genet.40, 572-574].
|
19379745 |
2009 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
|
19496940 |
2009 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.
|
19411082 |
2009 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RNA binding protein TDP-43 were recently identified in patients with familial amyotrophic lateral sclerosis (ALS), and TDP-43 aggregates are found in both ALS and FTLD-U (FTLD with ubiquitin aggregates), suggesting a common underlying mechanism.
|
19833869 |
2009 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations in the gene encoding TDP-43, TARDBP, have been reported in familial amyotrophic lateral sclerosis (FALS) and, more recently, in families with a heterogeneous clinical phenotype including both ALS and frontotemporal lobar degeneration (FTLD).
|
19618195 |
2009 |