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

Abstract:

Background: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods: We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease ...

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Authors


Majounie, E More by this author
Renton, AE More by this author
Dopper, EGP More by this author
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Journal:
The Lancet Neurology
Volume:
11
Issue:
4
Pages:
323-330
Publication date:
2012-04-05
DOI:
EISSN:
1474-4465
ISSN:
1474-4422
URN:
uuid:8fd3f51c-f98b-4c4e-a40d-94781a17ff21
Source identifiers:
341667
Local pid:
pubs:341667
Language:
English

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