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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. Mackenzie IR, et al. Among authors: rogaeva e. Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025. Neuron. 2017. PMID: 28817800 Free PMC article.
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. Rogaeva E, et al. Nat Genet. 2007 Feb;39(2):168-77. doi: 10.1038/ng1943. Epub 2007 Jan 14. Nat Genet. 2007. PMID: 17220890 Free PMC article.
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.
Xiao S, Sato C, Kawarai T, Goodall EF, Pall HS, Zinman LH, Robertson J, Morrison K, Rogaeva E. Xiao S, et al. Among authors: rogaeva e. Neurobiol Aging. 2008 Aug;29(8):1279-82. doi: 10.1016/j.neurobiolaging.2007.02.022. Epub 2007 Mar 23. Neurobiol Aging. 2008. PMID: 17383054
A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.
Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, Rogaeva E. Zinman L, et al. Among authors: rogaeva e. Neurology. 2009 Mar 31;72(13):1153-9. doi: 10.1212/01.wnl.0000345363.65799.35. Neurology. 2009. PMID: 19332692 Free PMC article.
A novel double mutation in FUS gene causing sporadic ALS.
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E. Robertson J, et al. Among authors: rogaeva e. Neurobiol Aging. 2011 Mar;32(3):553.e27-30. doi: 10.1016/j.neurobiolaging.2010.05.015. Epub 2010 Jun 18. Neurobiol Aging. 2011. PMID: 20561714
Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).
Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C. Gabryelewicz T, et al. Among authors: rogaeva e. J Alzheimers Dis. 2010;22(4):1123-33. doi: 10.3233/JAD-2010-101413. J Alzheimers Dis. 2010. PMID: 20930269 Free PMC article.
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.
Xiao S, Sanelli T, Dib S, Sheps D, Findlater J, Bilbao J, Keith J, Zinman L, Rogaeva E, Robertson J. Xiao S, et al. Among authors: rogaeva e. Mol Cell Neurosci. 2011 Jul;47(3):167-80. doi: 10.1016/j.mcn.2011.02.013. Epub 2011 Mar 21. Mol Cell Neurosci. 2011. PMID: 21421050
426 results