(Q35643260)

26016851

9 August 2017

title

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis (English)

1 reference

26016851

amyotrophic lateral sclerosis

9 August 2017

main subject

1 reference

based on heuristic

inferred from title

author

Johnathan Cooper-Knock

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Joanna J Bury

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Robin Highley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Magnus Rattray

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Janine Kirby

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Pamela Shaw

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Paul R Heath

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Matthew Wyles

4

1 reference

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12 June 2020

Adrian Higginbottom

5

1 reference

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12 June 2020

Catherine Gelsthorpe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Guillaume Hautbergue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

27 May 2015

1 reference

9 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

10

1 reference

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12 June 2020

issue

5

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12 June 2020

page(s)

e0127376

1 reference

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Creative Commons Attribution 4.0 International

12 June 2020

copyright license

start time

27 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

WGCNA

object named as

WGCNA

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

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1 reference

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

27 July 2018

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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

27 July 2018

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27 July 2018

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27 July 2018

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Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

27 July 2018

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

27 July 2018

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

27 July 2018

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

27 July 2018

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Transcriptome instability in colorectal cancer identified by exon microarray analyses: Associations with splicing factor expression levels and patient survival

27 July 2018

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Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients

27 July 2018

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Noisy splicing drives mRNA isoform diversity in human cells.

27 July 2018

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Neural cell cycle dysregulation and central nervous system diseases

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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25 September 2018

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25 September 2018

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25 September 2018

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hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

25 September 2018

1 reference

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Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

25 September 2018

1 reference

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

25 September 2018

1 reference

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Exome sequencing reveals VCP mutations as a cause of familial ALS

25 September 2018

1 reference

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ALS disease onset may occur later in patients with pre-morbid diabetes mellitus

25 September 2018

1 reference

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Neuropathological diagnoses in elderly patients in Oslo: Alzheimer's disease, Lewy body disease, vascular lesions.

25 September 2018

1 reference

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10.1371/JOURNAL.PONE.0127376

25 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

26016851

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26016851%20AND%20SRC:MED&resulttype=core&format=json