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231 results

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Page 1
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: boylan k. 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.
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: boylan k. Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791. Science. 2016. PMID: 27516603 Free PMC article.
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.
DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, Johnston A, Rutherford N, Wojtas A, Kennelly K, Wszolek ZK, Graff-Radford N, Boylan K, Rademakers R. DeJesus-Hernandez M, et al. Among authors: boylan k. Hum Mutat. 2010 May;31(5):E1377-89. doi: 10.1002/humu.21241. Hum Mutat. 2010. PMID: 20232451 Free PMC article.
Amyotrophic lateral sclerosis-specific quality of life-short form (ALSSQOL-SF): A brief, reliable, and valid version of the ALSSQOL-R.
Felgoise SH, Feinberg R, Stephens HE, Barkhaus P, Boylan K, Caress J, Clawson LL, Elman L, Goutman SA, Mccluskey L, Russell J, Tiryaki E, Weiss M, Simmons Z. Felgoise SH, et al. Among authors: boylan k. Muscle Nerve. 2018 Nov;58(5):646-654. doi: 10.1002/mus.26203. Epub 2018 Oct 19. Muscle Nerve. 2018. PMID: 30028537 Free article.
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice.
Xu YF, Gendron TF, Zhang YJ, Lin WL, D'Alton S, Sheng H, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, Dickson DW, Lewis J, Petrucelli L. Xu YF, et al. Among authors: boylan k. J Neurosci. 2010 Aug 11;30(32):10851-9. doi: 10.1523/JNEUROSCI.1630-10.2010. J Neurosci. 2010. PMID: 20702714 Free PMC article.
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Belzil VV, et al. Among authors: boylan k. Acta Neuropathol. 2013 Dec;126(6):895-905. doi: 10.1007/s00401-013-1199-1. Epub 2013 Oct 29. Acta Neuropathol. 2013. PMID: 24166615 Free PMC article.
Ataxin-2 repeat-length variation and neurodegeneration.
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R. Ross OA, et al. Among authors: boylan k. Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24. Hum Mol Genet. 2011. PMID: 21610160 Free PMC article.
Old age amyotrophic lateral sclerosis and limbic TDP-43 pathology.
Murakami A, Koga S, Sekiya H, Oskarsson B, Boylan K, Petrucelli L, Josephs KA, Dickson DW. Murakami A, et al. Among authors: boylan k. Brain Pathol. 2022 Nov;32(6):e13100. doi: 10.1111/bpa.13100. Epub 2022 Jun 17. Brain Pathol. 2022. PMID: 35715944 Free PMC article.
231 results