Publications

1. Murakami A, Koga S, Fujioka S, White AE, Bieniek KF, Sekiya H, DeJesus-Hernandez M, Finch NA, van Blitterswijk M, Nakamura M, Tsuboi Y, Murray ME, Wszolek ZK, Dickson DW. Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study. Brain Pathol. 2024 Jul 10; e13286 Epub 2024 July 10
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2. Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta Neuropathol. 2024 Apr 19; 147 (1):73
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3. Milioto C, Carcole M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nat Neurosci. 2024 Apr; 27 (4):643-655 Epub 2024 Feb 29
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4. Jain A, Udine E, van Blitterswijk M. Exploring shared features in neurodegenerative diseases. Brain 2023 Nov 2; 146 (11):4405-4407
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5. Monnakgotla NR, Mahungu AC, Heckmann JM, Botha G, Mulder NJ, Wu G, Rampersaud E, Myers J, Van Blitterswijk M, Rademakers R, Taylor JP, Wuu J, Benatar M, Nel M. Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurol Genet. 2023 Aug; 9 (4):e200077 Epub 2023 June 16
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6. Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK, Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug; 24 (5-6):420-435 Epub 2023 Mar 10
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7. Meneses AD, Koga S, Li Z, O'Leary J, Li F, Chen K, Murakami A, Qiao W, Kurti A, Heckman MG, White L, Xie M, Chen Y, Finch NA, Lim MJ, Delenclos M, DeTure MA, Linares C, Martin NB, Ikezu TC, van Blitterswijk MM, Wu LJ, McLean PJ, Rademakers R, Ross OA, Dickson DW, Bu G, Zhao N. APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology. Ann Neurol. 2023 Apr; 93 (4):830-843 Epub 2023 Jan 10
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8. Udine E, Jain A, van Blitterswijk M. Advances in sequencing technologies for amyotrophic lateral sclerosis research. Mol Neurodegener. 2023 Jan 13; 18 (1):4
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9. Gao J, Mewborne QT, Girdhar A, Sheth U, Coyne AN, Punathil R, Kang BG, Dasovich M, Veire A, DeJesus Hernandez M, Liu S, Shi Z, Dafinca R, Fouquerel E, Talbot K, Kam TI, Zhang YJ, Dickson D, Petrucelli L, van Blitterswijk M, Guo L, Dawson TM, Dawson VL, Leung AKL, Lloyd TE, Gendron TF, Rothstein JD, Zhang K. Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins. Sci Transl Med. 2022 Sep 14; 14 (662):eabq3215 Epub 2022 Sept 14
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10. Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Asmann YW, Dickson DW, Rademakers R. Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations. Brain. 2022 Jul 29; 145 (7):2472-2485
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11. Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM. Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis. Neurol Genet. 2022 Feb; 8 (1):e654 Epub 2022 Jan 12
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12. Tsai YC, Zafar F, McEachin ZT, McLaughlin I, Van Blitterswijk M, Ziegle J. Multiplex CRISPR/Cas9-guided no-amp targeted sequencing panel for spinocerebellar ataxia repeat expansions. Neuromethods. 2022; 182:95-120
    
13. Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chio A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Perez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Soraru G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Garcia-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chio A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chio A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, et al, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol. 2021 Oct 1; 78 (10):1236-1248
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14. 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. Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases. Brain. 2021 May 7; 144 (4):1082-1088
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15. van der Ende EL, Jackson JL, White A, Seelaar H, van Blitterswijk M, Van Swieten JC. Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions. J Neurol Neurosurg Psychiatry. 2021 May; 92 (5):502-509 Epub 2021 Jan 15
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16. Fumagalli L, Young FL, Boeynaems S, De Decker M, Mehta AR, Swijsen A, Fazal R, Guo W, Moisse M, Beckers J, Dedeene L, Selvaraj BT, Vandoorne T, Madan V, van Blitterswijk M, Raitcheva D, McCampbell A, Poesen K, Gitler AD, Koch P, Vanden Berghe P, Thal DR, Verfaillie C, Chandran S, Van Den Bosch L, Bullock SL, Van Damme P. C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility. Sci Adv. 2021 Apr; 7 (15) Epub 2021 Apr 09
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17. Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibanez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chio A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ, American Genome Center (TAGC)//FALS Sequencing Consortium//Genomics England Research Consortium//International ALS/FTD Genomics Consortium (iAFGC)//International FTD Genetics Consortium (IFGC)//International LBD Genomics Consortium (iLBDGC)//NYGC ALS Consortium//PROSPECT Consortium. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. 2021 Feb 3; 109 (3):448-460.e4 Epub 2020 Nov 26
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18. Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S, Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L, NYGC ALS Consortium. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. J Clin Invest. 2020 Nov 2; 130 (11):6080-6092
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19. Mitsumoto H, Turner MR, Ajroud-Driss S, Andres P, Andrews J, Gomez EA, Atehortua JMS, Babu S, Barohn R, Bede P, Benatar M, Chew S, Conwit R, Corcia P, Cudkowicz M, Davis F, Carvalho M, Drory V, Elman L, Factor-Litvak P, Fernandes JAM, Ferrey D, Finegan E, Fink J, Floeter MK, Fournier C, Genge A, Govindarajan R, Granit V, Haase G, Hardiman O, Harms M, Hayat G, Heiman-Patterson T, Hill B, Hubers A, Huey E, Jawdat O, Kano O, Kau K, Kiernan M, Kisanuki Y, Kurent J, Kwan J, Lange D, Ludolph A, Mackenzie I, Manfredi G, Marren D, Morita M, Murphy J, Nations S, Oskarsson B, Paganoni S, Pellerin D, Ravits J, Rezania K, Rouleau G, Scelsa S, Siddique T, Siddique N, Silani V, Simmons Z, Statland J, Traynor B, Blitterswijk MV, Berg LVD, Walk D, Warden D, Wymer J, all Delegates of the PLS Conference. Preface: promoting research in PLS: current knowledge and future challenges. Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov; 21 (sup1):1-2
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20. Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 Oct 21; 12(566).
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21. Benatar M, Zhang L, Wang L, Granit V, Statland J, Barohn R, Swenson A, Ravits J, Jackson C, Burns TM, Trivedi J, Pioro EP, Caress J, Katz J, McCauley JL, Rademakers R, Malaspina A, Ostrow LW, Wuu J, CReATe Consortium. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 Jul 7; 95 (1):e59-e69 Epub 2020 May 08
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22. 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. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Mol Neurodegener. 2020 Jan 30; 15 (1):7
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23. 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, Coppola G, ARTFL/LEFFTDS consortium. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimers Dement. 2020 Jan; 16 (1):118-130
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24. 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. Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers. Acta Neuropathol Commun. 2019 Oct 8; 7 (1):150 Epub 2019 Oct 08
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25. Sakae N, Roemer SF, Bieniek KF, Murray ME, Baker MC, Kasanuki K, Graff-Radford NR, Petrucelli L, Van Blitterswijk M, Rademakers R, Dickson DW. Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations. Ann Clin Transl Neurol. 2019 Sep; 6 (9):1782-1796 Epub 2019 Aug 25
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26. Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Oijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol. 2019 Jun; 137 (6):879-899 Epub 2019 Feb 09
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27. 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. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Mol Neurodegener. 2018 Aug 21; 13 (1):46
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28. Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R. TMEM106B haplotypes have distinct gene expression patterns in aged brain. Mol Neurodegener. 2018 Jul 3; 13 (1):35 Epub 2018 July 03
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29. Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, Lopez de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sanchez-Valle R, Antonell A, Llado A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Oijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol. 2018 Jun; 17 (6):548-558 Epub 2018 Apr 30
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30. van Blitterswijk M, Rademakers R. Repeat expansions in myoclonic epilepsy. Nat Genet 2018 Apr; 50 (4):477-478
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