| 1 | FTD3, FTDP17, FTDU17, FTLD
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| Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia.
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| Cenik B, Sephton CF, Dewey CM, Xian X, Wei S, Yu K, Niu W, Coppola G, Coughlin SE, Lee SE, Dries DR, Almeida S, Geschwind DH, Gao FB, Miller BL, Farese RV Jr, Posner BA, Yu G, Herz J.
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| J Biol Chem 286(18):16101-8. Epub 2011 Mar 23.
2011
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| 2 | ALS10, FTLD, TARDBP
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| Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis.
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| Pesiridis GS, Lee VM, Trojanowski JQ.
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| Hum Mol Genet 18(R2):R156-62. Review.PMID: 19808791 2009
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| 3 | ALS10, FTLD, TARDBP
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| TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.
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| Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijik MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC.
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| Brain 130(Pt 5):1375-85. Epub 2007 Mar 14.
2007
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| 4 | ALS10, ALSPD, FTLD, TARDBP
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| TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.
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| Hasegawa M, Arai T, Akiyama H, Nonaka T, Mori H, Hashimoto T, Yamazaki M, Oyanagi K.
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| Brain 130(Pt 5):1386-94. Epub 2007 Apr 17. 2007
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| 5 | FTLD, TARDBP, VCP
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| TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.
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| Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS.
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| J Neuropathol Exp Neurol 66(2):152-7.
2007
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| 6 | FTLD,PSEN1
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| Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
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| Zekanowski C, Golan MP, Krzysko KA, Lipczynska-Lojkowska W, Filipek S, Kowalska A, Rossa G, Peplonska B, Styczynska M, Maruszak A, Religa D, Wender M, Kulczycki J, Barcikowska M, Kuznicki J.
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| Exp Neurol 200(1):82-8. Epub 2006 Mar 20. 2006
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| 7 | FTLD, PSEN1
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| Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
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| Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D.
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| Neurology 55(10):1577-8. 2000
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