1 | ALSFTD1, C9orf72
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| The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK.
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| Rautila OS, Kaivola K, Rautila H, Hokkanen L, Launes J, Strandberg TE, Laaksovirta H, Palmio J, Tienari PJ.
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| Am J Hum Genet. Feb 1;111(2):383-392. doi: 10.1016/j.ajhg.2023.12.019. Epub 2024 Jan 18. 2024
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2 | ALSFTD1, C9orf72
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| Disease Mechanisms of C9ORF72 Repeat Expansions.
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| Gendron TF, Petrucelli L.
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| Cold Spring Harb Perspect Med. Apr 2;8(4):a024224. doi: 10.1101/cshperspect.a024224. 2018
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3 | ALSFTD1, C9orf72
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| Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
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| Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM.
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| Acta Neuropathol Commun 4:18. doi: 10.1186/s40478-016-0289-4.
2016
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4 | ALSFTD1, C9orf72
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| Jump from Pre-mutation to Pathologic Expansion in C9orf72.
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| Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E.
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| Am J Hum Genet 96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21.
2015
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5 | ALSFTD1, ATXN2, C9orf72
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| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
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| van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.
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| Neurobiol Aging 35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.
2014
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6 | ALSFTD1, C9orf72
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| Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
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| Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA.
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| Eur J Hum Genet 21(2):237-9. doi: 10.1038/ejhg.2012.135. Epub 2012 Jun 27.
2013
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7 | ALS8, ALSFTD1, C9orf72, VAPB
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| VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
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| van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
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| Neurobiol Aging 33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.
2012
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8 | ALSFTD1, CHMP2B, FTD3
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| Endosomal damage has gone to our heads.
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| Murphy Z.
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| Clin Genet 68(6):496-7. No abstract available. 2005
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9 | ALSFTD1
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| Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22
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| Savioz A, Riederer BM, Heutink P, Rizzu P, Tolnay M, Kovari E, Probst A, Riederer IM, Bouras C, Leuba G.
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| Neurobiol Dis 12(1):46-55. 2003
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10 | ALSFTD1
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| Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.
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| Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH Jr.
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| JAMA 284(13):1664-9. 2000
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