(Q51815155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

21 January 2020

main subject

Italy

0 references

0 references

author

Emanuele Buratti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Nicola Ticozzi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Vincenzo Silani

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Cinzia Gellera

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Barbara Castellotti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Franco Taroni

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

A Ratti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Y Carlomagno

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

L Mazzini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

L Testa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

F E Baralle

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

S D'Alfonso

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Lucia Corrado

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

publication date

1 April 2009

1 reference

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21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

688-694

1 reference

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21 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19224587%20AND%20SRC:MED&resulttype=core&format=json

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

21 January 2020

cites work

1 reference

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7 January 2021

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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7 January 2021

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

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7 January 2021

TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression

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7 January 2021

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander

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7 January 2021

Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

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7 January 2021

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

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7 January 2021

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

1 reference

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7 January 2021

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

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7 January 2021

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

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7 January 2021

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

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7 January 2021

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

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7 January 2021

Motor neuron disease, parkinsonism and dementia. Report of a case with diffuse Lewy body-like intracytoplasmic inclusions.

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7 January 2021

TDP-43: a novel neurodegenerative proteinopathy

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7 January 2021

TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration

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7 January 2021

Association between Alzheimer disease and amyotrophic lateral sclerosis?

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7 January 2021

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

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7 January 2021

TDP-43 A315T mutation in familial motor neuron disease

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7 January 2021

The Microprocessor complex mediates the genesis of microRNAs

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7 January 2021

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

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7 January 2021

TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.

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7 January 2021

Concurrence of Alzheimer's disease, Parkinson's disease, diffuse Lewy body disease, and amyotrophic lateral sclerosis.

1 reference

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7 January 2021

Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review

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7 January 2021

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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7 January 2021

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations

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7 January 2021

Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration.

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7 January 2021

Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus.

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7 January 2021

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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7 January 2021

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

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7 January 2021

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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7 January 2021

Amyotrophic lateral sclerosis and Alzheimer's disease--clinical and neuropathological considerations in two cases.

1 reference

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7 January 2021

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

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7 January 2021

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7 January 2021

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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7 January 2021

Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

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7 January 2021

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

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7 January 2021

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

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7 January 2021

TDP-43 mutation in familial amyotrophic lateral sclerosis

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7 January 2021