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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD. Elden AC, et al. Among authors: clay falcone d. Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320. Nature. 2010. PMID: 20740007 Free PMC article.
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.
Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, Kalb RG, Trojanowski JQ, Lee VM, Van Deerlin VM, Gitler AD, Bonini NM. Yu Z, et al. Among authors: clay falcone d. PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951. PLoS One. 2011. PMID: 21479228 Free PMC article.
A yeast functional screen predicts new candidate ALS disease genes.
Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD. Couthouis J, et al. Among authors: clay falcone d. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):20881-90. doi: 10.1073/pnas.1109434108. Epub 2011 Nov 7. Proc Natl Acad Sci U S A. 2011. PMID: 22065782 Free PMC article.
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD. Couthouis J, et al. Among authors: clay falcone d. Hum Mol Genet. 2012 Jul 1;21(13):2899-911. doi: 10.1093/hmg/dds116. Epub 2012 Mar 27. Hum Mol Genet. 2012. PMID: 22454397 Free PMC article.