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Journal article

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

Abstract:
C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.neurobiolaging.2016.08.023

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
National Institutes of Neurological Disease More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Neurobiology of Aging Journal website
Volume:
49
Pages:
214.e13–214.e15
Publication date:
2016-09-02
Acceptance date:
2016-08-25
DOI:
EISSN:
1558-1497
ISSN:
0197-4580
Pmid:
27666590
Language:
English
Keywords:
Pubs id:
pubs:648183
UUID:
uuid:a9d1c8a4-9c97-440a-b8c5-02e8fe3d09ab
Local pid:
pubs:648183
Source identifiers:
648183
Deposit date:
2016-10-10

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