MCID: TRD001
MIFTS: 9

Tardbp-Related Amyotrophic Lateral Sclerosis

Aliases & Classifications for Tardbp-Related Amyotrophic Lateral Sclerosis

MalaCards integrated aliases for Tardbp-Related Amyotrophic Lateral Sclerosis:

Name: Tardbp-Related Amyotrophic Lateral Sclerosis 24

Characteristics:

GeneReviews:

24
Penetrance Like pathogenic variants in other als-related genes (e.g., sod1), penetrance is clearly incomplete. this is evident from the number of individuals with apparently simplex als who have a tardbp pathogenic variant, which may have been inherited from an ostensibly asymptomatic (or undiagnosed) parent. however, accurate estimates are difficult to achieve for the following reasons:...

Summaries for Tardbp-Related Amyotrophic Lateral Sclerosis

MalaCards based summary : Tardbp-Related Amyotrophic Lateral Sclerosis is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and amyotrophic lateral sclerosis 1. An important gene associated with Tardbp-Related Amyotrophic Lateral Sclerosis is TARDBP (TAR DNA Binding Protein). Affiliated tissues include brain.

GeneReviews: NBK5942

Related Diseases for Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Tardbp-Related Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 12.1
2 amyotrophic lateral sclerosis 1 10.3
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.3
4 respiratory failure 10.3
5 lateral sclerosis 10.3
6 pseudobulbar affect 10.3
7 spasticity 10.3

Graphical network of the top 20 diseases related to Tardbp-Related Amyotrophic Lateral Sclerosis:



Diseases related to Tardbp-Related Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for Tardbp-Related Amyotrophic Lateral Sclerosis

Drugs & Therapeutics for Tardbp-Related Amyotrophic Lateral Sclerosis

Search Clinical Trials , NIH Clinical Center for Tardbp-Related Amyotrophic Lateral Sclerosis

Genetic Tests for Tardbp-Related Amyotrophic Lateral Sclerosis

Anatomical Context for Tardbp-Related Amyotrophic Lateral Sclerosis

MalaCards organs/tissues related to Tardbp-Related Amyotrophic Lateral Sclerosis:

41
Brain

Publications for Tardbp-Related Amyotrophic Lateral Sclerosis

Articles related to Tardbp-Related Amyotrophic Lateral Sclerosis:

(show all 50)
# Title Authors PMID Year
1
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. 4
25408367 2015
2
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. 4
24300238 2014
3
TARDBP mutations in Parkinson's disease. 4
23231971 2013
4
How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other? 4
23041957 2012
5
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. 4
22645277 2012
6
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. 4
22539580 2012
7
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. 4
21418058 2012
8
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. 4
21803454 2011
9
TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 4
21777387 2011
10
Implications of the prion-related Q/N domains in TDP-43 and FUS. 4
21135580 2011
11
TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. 4
20645878 2010
12
Prion-like disorders: blurring the divide between transmissibility and infectivity. 4
20356930 2010
13
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS. 4
20558945 2010
14
TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation. 4
19864663 2009
15
Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. 4
19822872 2009
16
Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. 4
19822873 2009
17
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. 4
18068872 2009
18
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. 4
19236453 2009
19
TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. 4
18986339 2009
20
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 4
19224587 2009
21
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 4
19350673 2009
22
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 4
19225410 2009
23
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. 4
18931000 2009
24
TDP-43 accumulation is common in myopathies with rimmed vacuoles. 4
19066918 2009
25
Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies. 4
19139911 2009
26
Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis. 4
18989684 2009
27
TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 4
19001167 2008
28
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 4
18796596 2008
29
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. 4
18802454 2008
30
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 4
18779421 2008
31
Whole brain-based computerized neuroimaging in ALS and other motor neuron disorders. 4
18608107 2008
32
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. 4
18545701 2008
33
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. 4
18520774 2008
34
A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. 4
18505686 2008
35
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 4
18372902 2008
36
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 4
18396105 2008
37
TDP-43 mutation in familial amyotrophic lateral sclerosis. 4
18438952 2008
38
TDP-43 A315T mutation in familial motor neuron disease. 4
18288693 2008
39
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 4
18309045 2008
40
TAR-DNA binding protein 43 in Pick disease. 4
18091558 2008
41
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. 4
17981595 2008
42
Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial. 4
17980667 2007
43
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. 4
17219193 2007
44
Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). 4
17253460 2007
45
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 4
17023659 2006
46
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. 4
16157593 2005
47
Survival in amyotrophic lateral sclerosis with home mechanical ventilation: the impact of systematic respiratory assessment and bulbar involvement. 4
15947331 2005
48
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. 4
11464847 2000
49
Amyotrophic lateral sclerosis mimic syndromes: a population-based study. 4
10634456 2000
50
TARDBP-Related Amyotrophic Lateral Sclerosis 38
20301761 2009

Variations for Tardbp-Related Amyotrophic Lateral Sclerosis

Expression for Tardbp-Related Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Tardbp-Related Amyotrophic Lateral Sclerosis.

Pathways for Tardbp-Related Amyotrophic Lateral Sclerosis

GO Terms for Tardbp-Related Amyotrophic Lateral Sclerosis

Sources for Tardbp-Related Amyotrophic Lateral Sclerosis

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73 UMLS via Orphanet
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