1 |
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.
6
25
|
Synofzik M...Adamczyk C
|
24300238 |
2014 |
2 |
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
6
25
|
Benajiba L...French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease
|
19350673 |
2009 |
3 |
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
6
25
|
Corrado L...D'Alfonso S
|
19224587 |
2009 |
4 |
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
6
25
|
Kuhnlein P...Neumann M
|
18779421 |
2008 |
5 |
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
25
6
|
Kabashi E...Rouleau GA
|
18372902 |
2008 |
6 |
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
6
25
|
Van Deerlin VM...Yu CE
|
18396105 |
2008 |
7 |
TDP-43 A315T mutation in familial motor neuron disease.
25
6
|
Gitcho MA...Cairns NJ
|
18288693 |
2008 |
8 |
TDP-43 mutation in familial amyotrophic lateral sclerosis.
6
25
|
Yokoseki A...Onodera O
|
18438952 |
2008 |
9 |
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
6
25
|
Sreedharan J...Shaw CE
|
18309045 |
2008 |
10 |
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
6
|
Chio A...Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium
|
21220647 |
2011 |
11 |
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.
6
|
Chio A...Borghero G
|
20697052 |
2010 |
12 |
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy.
6
|
Gitcho MA...Cairns NJ
|
19618195 |
2009 |
13 |
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.
6
|
Luquin N...Pamphlett R
|
19695877 |
2009 |
14 |
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.
25
|
Floris G...Marrosu F
|
25408367 |
2015 |
15 |
TARDBP mutations in Parkinson's disease.
25
|
Rayaprolu S...Ross OA
|
23231971 |
2013 |
16 |
How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?
25
|
Baloh RH
|
23041957 |
2012 |
17 |
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
25
|
van Blitterswijk M...van den Berg LH
|
22645277 |
2012 |
18 |
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
25
|
Corcia P...Camu W
|
22539580 |
2012 |
19 |
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
25
|
Orru S...Petersen MB
|
21418058 |
2012 |
20 |
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.
25
|
Borghero G...Chio A
|
21803454 |
2011 |
21 |
TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
25
|
Baloh RH
|
21777387 |
2011 |
22 |
Implications of the prion-related Q/N domains in TDP-43 and FUS.
25
|
Udan M...Baloh RH
|
21135580 |
2011 |
23 |
TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.
25
|
Borroni B...Padovani A
|
20645878 |
2010 |
24 |
Prion-like disorders: blurring the divide between transmissibility and infectivity.
25
|
Cushman M...Shorter J
|
20356930 |
2010 |
25 |
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
25
|
Nozaki I...Yamada M
|
20558945 |
2010 |
26 |
TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.
25
|
Baumer D...Talbot K
|
19864663 |
2009 |
27 |
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.
25
|
Miller RG...Quality Standards Subcommittee of the American Academy of Neurology
|
19822872 |
2009 |
28 |
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.
25
|
Miller RG...Quality Standards Subcommittee of the American Academy of Neurology
|
19822873 |
2009 |
29 |
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.
25
|
Gijselinck I...Cruts M
|
18068872 |
2009 |
30 |
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
25
|
Del Bo R...Comi GP
|
19236453 |
2009 |
31 |
TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations.
25
|
Pamphlett R...Adams L
|
18986339 |
2009 |
32 |
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.
25
|
Olive M...Ferrer I
|
19225410 |
2009 |
33 |
TDP-43 accumulation is common in myopathies with rimmed vacuoles.
25
|
Kusters B...Lammens M
|
19066918 |
2009 |
34 |
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
25
|
Daoud H...Rouleau GA
|
18931000 |
2009 |
35 |
Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.
25
|
Arai T...Akiyama H
|
19139911 |
2009 |
36 |
Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis.
25
|
Kasai T...Nakagawa M
|
18989684 |
2009 |
37 |
TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
25
|
Steinacker P...Otto M
|
19001167 |
2008 |
38 |
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.
25
|
Weihl CC...Pestronk A
|
18796596 |
2008 |
39 |
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
25
|
Rutherford NJ...Rademakers R
|
18802454 |
2008 |
40 |
Whole brain-based computerized neuroimaging in ALS and other motor neuron disorders.
25
|
Grosskreutz J...Kassubek J
|
18608107 |
2008 |
41 |
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
25
|
Guerreiro RJ...Traynor BJ
|
18545701 |
2008 |
42 |
A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.
25
|
Winton MJ...Lee VM
|
18505686 |
2008 |
43 |
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies.
25
|
Uryu K...Neumann M
|
18520774 |
2008 |
44 |
TAR-DNA binding protein 43 in Pick disease.
25
|
Freeman SH...Frosch MP
|
18091558 |
2008 |
45 |
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.
25
|
Buratti E...Baralle FE
|
17981595 |
2008 |
46 |
Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial.
25
|
Gordon PH...Western ALS Study Group
|
17980667 |
2007 |
47 |
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.
25
|
Davidson Y...Mann DM
|
17219193 |
2007 |
48 |
Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND).
25
|
Miller RG...Moore DH
|
17253460 |
2007 |
49 |
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
25
|
Neumann M...Lee VM
|
17023659 |
2006 |
50 |
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.
25
|
Buratti E...Baralle FE
|
16157593 |
2005 |