(Q52149799)

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A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

scientific article published on 7 September 2015

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23 February 2020

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease (English)

1 reference

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23 February 2020

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23 February 2020

Conceicao Bettencourt

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23 February 2020

Eduardo de Pablo-Fernández

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23 February 2020

Tammaryn Lashley

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Tammaryn Lashley

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Janice L Holton

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23 February 2020

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Christina Murray

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23 February 2020

Lucia Schottlaender

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23 February 2020

Ese Mudanohwo

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23 February 2020

Sarah Mizielinska

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James M Polke

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Adrian M Isaacs

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23 February 2020

Henry Houlden

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23 February 2020

Tamas Revesz

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23 February 2020

publication date

7 September 2015

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23 February 2020

Acta Neuropathologica

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23 February 2020

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599-601

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23 February 2020

https://scigraph.springernature.com/pub.10.1007/s00401-015-1473-5

0 references

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

Jump from pre-mutation to pathologic expansion in C9orf72.

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1473-5

21 January 2018

Identifiers

10.1007/S00401-015-1473-5

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23 February 2020

1 reference

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23 February 2020

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