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2018 1
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2021 2
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Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. DeJesus-Hernandez M, et al. Brain. 2021 May 7;144(4):1082-1088. doi: 10.1093/brain/awab006. Brain. 2021. PMID: 33889947 Free PMC article.
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
Jackson JL, Finch NA, Baker MC, Kachergus JM, DeJesus-Hernandez M, Pereira K, Christopher E, Prudencio M, Heckman MG, Thompson EA, Dickson DW, Shah J, Oskarsson B, Petrucelli L, Rademakers R, van Blitterswijk M. Jackson JL, et al. Mol Neurodegener. 2020 Jan 30;15(1):7. doi: 10.1186/s13024-020-0359-8. Mol Neurodegener. 2020. PMID: 32000838 Free PMC article.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Fields J, Fong J, Foroud T, Forsberg LK, Gavrilova R, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Heuer HW, Hsiung GR, Huey E, Irwin D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kremers W, Kukull W, Litvan I, Ljubenkov P, Lungu C, Mackenzie I, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Rademakers R, Boeve BF, Rosen HJ, Boxer AL; ARTFL/LEFFTDS consortium; Coppola G. Ramos EM, et al. Alzheimers Dement. 2020 Jan;16(1):118-130. doi: 10.1002/alz.12011. Alzheimers Dement. 2020. PMID: 31914217 Free PMC article.
Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.
Dickson DW, Baker MC, Jackson JL, DeJesus-Hernandez M, Finch NA, Tian S, Heckman MG, Pottier C, Gendron TF, Murray ME, Ren Y, Reddy JS, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Petrucelli L, Oskarsson B, Sheppard JW, Asmann YW, Rademakers R, van Blitterswijk M. Dickson DW, et al. Acta Neuropathol Commun. 2019 Oct 8;7(1):150. doi: 10.1186/s40478-019-0797-0. Acta Neuropathol Commun. 2019. PMID: 31594549 Free PMC article.
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4. Mol Neurodegener. 2018. PMID: 30126445 Free PMC article.