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Page 1
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.
Bieri G, Brahic M, Bousset L, Couthouis J, Kramer NJ, Ma R, Nakayama L, Monbureau M, Defensor E, Schüle B, Shamloo M, Melki R, Gitler AD. Bieri G, et al. Among authors: couthouis j. Acta Neuropathol. 2019 Jun;137(6):961-980. doi: 10.1007/s00401-019-01995-0. Epub 2019 Mar 29. Acta Neuropathol. 2019. PMID: 30927072 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. 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.
Exome sequencing to identify de novo mutations in sporadic ALS trios.
Chesi A, Staahl BT, Jovičić A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, Williams KL, Fifita JA, Maragakis NJ, Nicholson GA, King OD, Reed R, Crabtree GR, Blair IP, Glass JD, Gitler AD. Chesi A, et al. Among authors: couthouis j. Nat Neurosci. 2013 Jul;16(7):851-5. doi: 10.1038/nn.3412. Epub 2013 May 26. Nat Neurosci. 2013. PMID: 23708140 Free PMC article.
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD. Kramer NJ, et al. Among authors: couthouis j. Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791. Science. 2016. PMID: 27516603 Free PMC article.
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. Joly P, et al. Among authors: couthouis j. PLoS One. 2017 Jun 15;12(6):e0179369. doi: 10.1371/journal.pone.0179369. eCollection 2017. PLoS One. 2017. PMID: 28617828 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: couthouis j. 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. 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.
32 results