(Q43532911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Pathophysiological insights into ALS with C9ORF72 expansions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

25 February 2020

main subject

1 reference

1 reference

1

1 reference

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25 February 2020

Jennifer A. Fifita

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Steve Vucic

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Ian P Blair

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

4

Jennifer C Durnall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Garth A Nicholson

7

1 reference

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25 February 2020

Matthew C Kiernan

5

1 reference

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25 February 2020

language of work or name

English

0 references

publication date

5 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

25 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

volume

84

1 reference

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25 February 2020

issue

8

1 reference

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25 February 2020

page(s)

931-935

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: protein misfolding diseases without amyloidosis

25 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Upregulation of persistent sodium conductances in familial ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Nonparametric Estimation from Incomplete Observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Assessment of cortical excitability using threshold tracking techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Cervical magnetic stimulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Novel threshold tracking techniques suggest that cortical hyperexcitability is an early feature of motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Patterns of neuronal degeneration in the motor cortex of amyotrophic lateral sclerosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Caspase-3 cleaves and inactivates the glutamate transporter EAAT2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

ALS: a disease of motor neurons and their nonneuronal neighbors

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Survey of ALS-associated factors potentially promoting Ca2+ overload of motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2012-304529

21 January 2018

Identifiers

DOI

10.1136/JNNP-2012-304529

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463871%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference