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Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Eger SJ, et al. Among authors: gitler ad. Neurol Genet. 2021 Dec 7;8(1):e647. doi: 10.1212/NXG.0000000000000647. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901437 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: gitler ad. 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.
CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.
Kramer NJ, Haney MS, Morgens DW, Jovičić A, Couthouis J, Li A, Ousey J, Ma R, Bieri G, Tsui CK, Shi Y, Hertz NT, Tessier-Lavigne M, Ichida JK, Bassik MC, Gitler AD. Kramer NJ, et al. Among authors: gitler ad. Nat Genet. 2018 Apr;50(4):603-612. doi: 10.1038/s41588-018-0070-7. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507424 Free PMC article.
These violent repeats have violent extends.
Couthouis J, Gitler AD. Couthouis J, et al. Among authors: gitler ad. Neurol Genet. 2018 Aug 1;4(4):e247. doi: 10.1212/NXG.0000000000000247. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30109264 Free PMC article. No abstract available.
A memory of eS25 loss drives resistance phenotypes.
Johnson AG, Flynn RA, Lapointe CP, Ooi YS, Zhao ML, Richards CM, Qiao W, Yamada SB, Couthouis J, Gitler AD, Carette JE, Puglisi JD. Johnson AG, et al. Among authors: gitler ad. Nucleic Acids Res. 2020 Jul 27;48(13):7279-7297. doi: 10.1093/nar/gkaa444. Nucleic Acids Res. 2020. PMID: 32463448 Free PMC article.
168 results