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Items: 6

1.

Repeat expansion in C9ORF72 in Alzheimer's disease.

Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ.

N Engl J Med. 2012 Jan 19;366(3):283-4. doi: 10.1056/NEJMc1113592. Epub 2012 Jan 4. No abstract available.

2.

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

Todd TW, Petrucelli L.

J Neurochem. 2016 Aug;138 Suppl 1:145-62. doi: 10.1111/jnc.13623. Epub 2016 Jun 15. Review.

3.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD.

Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Review. Erratum in: Lancet Neurol. 2015 Apr;14(4):350.

PMID:
25638642
4.

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Mizielinska S, Isaacs AM.

Curr Opin Neurol. 2014 Oct;27(5):515-23. doi: 10.1097/WCO.0000000000000130. Review.

5.

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

van Blitterswijk M, DeJesus-Hernandez M, Rademakers R.

Curr Opin Neurol. 2012 Dec;25(6):689-700. doi: 10.1097/WCO.0b013e32835a3efb. Review.

6.

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD.

Edbauer D, Haass C.

Curr Opin Neurobiol. 2016 Feb;36:99-106. doi: 10.1016/j.conb.2015.10.009. Epub 2015 Nov 8. Review.

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