TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report (Q34297851)

1 August 2017

title

TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report (English)

1 reference

1 August 2017

0 references

8

J C Morris

1 reference

1 August 2017

1

N J Cairns

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1 August 2017

10

R H Baloh

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1 August 2017

9

M. A. Gitcho

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

7 July 2024

author name string

R. J. Perrin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

7 July 2024

R. E. Schmidt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

7 July 2024

A. Gru

4

1 reference

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7 July 2024

K. G. Green

5

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7 July 2024

D. Carter

6

1 reference

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7 July 2024

L. Taylor-Reinwald

7

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7 July 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20819167

7 July 2024

publication date

1 December 2010

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full work available at URL

1 August 2017

https://europepmc.org/articles/pmc2978282?pdf=render

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Portable Document Format

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open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20819167/?tool=EBI

7 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20819167/pdf/?tool=EBI

7 July 2024

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

https://europepmc.org/articles/PMC2978282

7 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

https://europepmc.org/articles/PMC2978282?pdf=render

7 July 2024

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Portable Document Format

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content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20819167

https://doi.org/10.1111/j.1365-2990.2010.01121.x

7 July 2024

online access status

open access

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2990.2010.01121.x

7 July 2024

1 reference

10.1111/J.1365-2990.2010.01121.X

Crossref

DOI

https://api.crossref.org/works/10.1111/J.1365-2990.2010.01121.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2990.2010.01121.x/fullpdf

7 July 2024

1 reference

10.1111/J.1365-2990.2010.01121.X

Crossref

DOI

https://api.crossref.org/works/10.1111/J.1365-2990.2010.01121.X

Neuropathology and Applied Neurobiology

7 July 2024

published in

1 reference

1 August 2017

volume

36

1 reference

1 August 2017

issue

7

1 reference

1 August 2017

page(s)

673-679

1 reference

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

1 August 2017

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TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

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TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

6 July 2018

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6 July 2018

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Rethinking ALS: the FUS about TDP-43.

6 July 2018

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

6 July 2018

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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

6 July 2018

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

6 July 2018

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

6 July 2018

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6 July 2018

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TDP-43 A315T mutation in familial motor neuron disease

6 July 2018

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TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

6 July 2018

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Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

6 July 2018

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6 July 2018

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New ubiquitin-positive intraneuronal inclusions in the extra-motor cortices in patients with amyotrophic lateral sclerosis

6 July 2018

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Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia

6 July 2018

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

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TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

21 January 2018

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TDP-43 mutation in familial amyotrophic lateral sclerosis

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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

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Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation

28 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20819167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1365-2990.2010.01121.X

1 reference

1 August 2017

1 reference

1 August 2017

1 reference