Journal article
Genome-wide analyses identify KIF5A as a novel ALS gene
- Abstract:
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To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are cau...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Accepted manuscript, zip, 1.2MB, Terms of use)
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(Preview, Accepted manuscript, pdf, 1.2MB, Terms of use)
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- Publisher copy:
- 10.1016/j.neuron.2018.02.027
Authors
Funding
Bibliographic Details
- Publisher:
- Cell Press
- Journal:
- Neuron More from this journal
- Volume:
- 97
- Issue:
- 6
- Pages:
- 1268-1283.e6
- Publication date:
- 2018-03-21
- Acceptance date:
- 2018-02-26
- DOI:
- EISSN:
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1097-4199
- ISSN:
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0896-6273
- Pmid:
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29566793
Item Description
- Language:
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English
- Keywords:
-
- Pubs id:
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pubs:832045
- UUID:
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uuid:535757df-42a5-4213-b831-a3eff17164af
- Local pid:
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pubs:832045
- Source identifiers:
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832045
- Deposit date:
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2018-11-06
Terms of use
- Copyright holder:
- Elsevier Inc
- Copyright date:
- 2018
- Notes:
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Copyright © 2018 Elsevier Inc. This is the accepted manuscript version of the article. The final version is available online from Cell Press at: https://doi.org/10.1016/j.neuron.2018.02.027
For full funding information, see article.
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