(Q38173694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis and frontotemporal dementia

3 March 2020

main subject

0 references

amyotrophic lateral sclerosis

0 references

frontotemporal dementia

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Christopher Shaw

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Frank Hirth

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Alan Stepto

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

24 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

377-389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24366528%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00401-013-1235-1

3 March 2020

exact match

0 references

cites work

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

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

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Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 January 2018

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ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

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Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

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Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

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21 January 2018

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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

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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

21 January 2018

1 reference

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