Publications

  1. Fujioka S, Sanchez Contreras MY, Strongosky AJ, Ogaki K, Whaley NR, Tacik PM, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK, Rademakers R, Dickson DW. Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. Parkinsonism Relat Disord. 2014 Nov 15.
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  2. Aoki N, Murray ME, Ogaki K, Fujioka S, Rutherford NJ, Rademakers R, Ross OA, Dickson DW. Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A. Acta Neuropathol. 2014 Nov 04.
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  3. Guerreiro R, Bras J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging. 2014 Nov; 35(11):2656.e13-6. Epub 2014 May 27.
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  4. Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. A familial form of parkinsonism, dementia, and motor neuron disease: A longitudinal study. Parkinsonism Relat Disord. 2014 Nov; 20(11):1129-34. Epub 2014 Aug 19
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  5. Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, Boxer AL, Kramer JH, Rosen HJ, Miller BL, Seeley WW. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain. 2014 Nov; 137(Pt 11):3047-60. Epub 2014 Oct 01.
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  6. Rademakers R, van Blitterswijk M. Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS. Neuron. 2014 Oct 22; 84(2):241-3.
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  7. Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 2014 Oct 14; 83(16):1476-8. Epub 2014 Sep 10.
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  8. 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, Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging. 2014 Oct; 35(10):2421.e13-7. Epub 2014 May 02.
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  9. Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, Whitelaw E, Ash PE, DeTure M, Rademakers R, Boylan KB, Dickson DW, Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol. 2014 Oct; 128(4):505-24. Epub 2014 Aug 31.
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  10. Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron. 2014 Sep 3; 83(5):1043-50. Epub 2014 Aug 14.
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  11. Murray ME, Cannon A, Graff-Radford NR, Liesinger AM, Rutherford NJ, Ross OA, Duara R, Carrasquillo MM, Rademakers R, Dickson DW. Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathol. 2014 Sep; 128(3):411-21. Epub 2014 Jun 05.
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  12. Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Hum Mutat. 2014 Aug; 35(8):964-71. Epub 2014 Jun 03.
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  13. Hallam BJ, Jacova C, Hsiung GY, Wittenberg D, Sengdy P, Bouchard-Kerr P, Slack P, Rademakers R, Baker M, Chow TW, Levine B, Feldman HH, Mackenzie IR. Early neuropsychological characteristics of progranulin mutation carriers. J Int Neuropsychol Soc. 2014 Aug; 20(7):694-703. Epub 2014 Jul 04.
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  14. Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernandez I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014 Jul; 13(7):686-99.
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  15. Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol. 2014 Jun; 71(6):775-81.
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  16. Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet. 2014 Jun; 51(6):419-24. Epub 2014 Apr 04.
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  17. Nicholson AM, Finch NA, Thomas CS, Wojtas A, Rutherford NJ, Mielke MM, Roberts RO, Boeve BF, Knopman DS, Petersen RC, Rademakers R. Progranulin protein levels are differently regulated in plasma and CSF. Neurology. 2014 May 27; 82(21):1871-8. Epub 2014 Apr 25.
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  18. Bit-Ivan EN, Suh E, Shim HS, Weintraub S, Hyman BT, Arnold SE, McCarty-Wood E, Van Deerlin VM, Schneider JA, Trojanowski JQ, Frosch MP, Baker MC, Rademakers R, Mesulam M, Bigio EH. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. J Neuropathol Exp Neurol. 2014 May; 73(5):467-73.
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  19. Shinohara M, Fujioka S, Murray ME, Wojtas A, Baker M, Rovelet-Lecrux A, Rademakers R, Das P, Parisi JE, Graff-Radford NR, Petersen RC, Dickson DW, Bu G. Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain. 2014 May; 137(Pt 5):1533-49. Epub 2014 Mar 12.
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  20. Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L. Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Hum Mol Genet. 2014 Mar 15; 23(6):1467-78. Epub 2013 Oct 26
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  21. Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 2014 Mar; 15(1):23-30. Epub 2013 Oct 18.
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  22. Josephs KA, Duffy JR, Strand EA, Machulda MM, Vemuri P, Senjem ML, Perkerson RB, Baker MC, Lowe V, Jack CR Jr, Rademakers R, Whitwell JL. Progranulin-associated PiB-negative logopenic primary progressive aphasia. J Neurol. 2014 Mar; 261(3):604-14. Epub 2014 Jan 22.
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  23. van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, 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, Strong TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014 Mar; 127(3):397-406. Epub 2014 Jan 03.
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  24. Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, Rademakers R. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol. 2014 Feb; 127(2):271-82.
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  25. Caselli RJ, Locke DE, Dueck AC, Knopman DS, Woodruff BK, Hoffman-Snyder C, Rademakers R, Fleisher AS, Reiman EM. The neuropsychology of normal aging and preclinical Alzheimer's disease. Alzheimers Dement. 2014 Jan; 10(1):84-92. Epub 2013 Mar 26.
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  26. Adeli A, Savica R, Lowe VJ, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Crum BA, Jack CR, Petersen RC, Boeve BF. The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome. Neurocase. 2014; 20(1):110-20. Epub 2012 Nov 30.
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  27. Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, Heilman KM, Wszolek ZK, Slawek J. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. 2014; 20(1):69-86. Epub 2012 Nov 05.
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  28. Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R. Als-ftd complex disorder due to c9orf72 gene mutation: description of first Polish family. Eur Neurol. 2014; 72(1-2):64-71.
  29. van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, 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, Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Mol Neurodegener. 2014; 9:38. Epub 2014 Sep 20.
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  30. Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbe C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Analysis of COQ2 gene in multiple system atrophy. Mol Neurodegener. 2014; 9:44. Epub 2014 Nov 05.
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  31. Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. 2013 Dec; 126(6):829-44. Epub 2013 Oct 16.
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  32. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol. 2013 Dec; 126(6):895-905. Epub 2013 Oct 29.
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  33. van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 2013 Oct 8; 81(15):1332-41. Epub 2013 Sep 11.
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  34. Jacova C, Hsiung GY, Tawankanjanachot I, Dinelle K, McCormick S, Gonzalez M, Lee H, Sengdy P, Bouchard-Kerr P, Baker M, Rademakers R, Sossi V, Stoessl AJ, Feldman HH, Mackenzie IR. Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology. 2013 Oct 8; 81(15):1322-31. Epub 2013 Sep 04.
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  35. van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol. 2013 Oct; 12(10):978-88. Epub 2013 Sep 05.
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  36. Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta Neuropathol. 2013 Oct; 126(4):545-54. Epub 2013 Aug 07.
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  37. Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord. 2013 Oct; 19(10):869-77. Epub 2013 Jun 17.
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  38. Lee SE, Tartaglia MC, Yener G, Genc S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, Lopez de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, Geschwind MD, Gorno-Tempini ML, Karydas AM, Rabinovici GD, Coppola G, Geschwind DH Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer Dis Assoc Disord. 2013 Oct-Dec; 27(4):302-9.
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  39. Kertesz A, Ang LC, Jesso S, MacKinley J, Baker M, Brown P, Shoesmith C, Rademakers R, Finger EC. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cogn Behav Neurol. 2013 Sep; 26(3):146-54.
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  40. Miller ZA, Rankin KP, Graff-Radford NR, Takada LT, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA, Stan T, Heggeli KA, Hsu SC, Karydas A, Khan BK, Grinberg LT, Gorno-Tempini ML, Boxer AL, Rosen HJ, Kramer JH, Coppola G, Geschwind DH, Rademakers R, Seeley TDP-43 frontotemporal lobar degeneration and autoimmune disease. J Neurol Neurosurg Psychiatry. 2013 Sep; 84(9):956-62. Epub 2013 Mar 30.
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  41. van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep; 14(5-6):463-9. Epub 2013 May 02.
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  42. Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R. Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiol Aging. 2013 Sep; 34(9):2235.e11-3. Epub 2013 Apr 28.
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  43. Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB 3rd, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R. TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. J Neurochem. 2013 Sep; 126(6):781-91. Epub 2013 Jul 01.
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  44. McDade EM, Boeve BF, Fields JA, Kumar N, Rademakers R, Baker MC, Knopman BD, Petersen RC, Jack CR Jr, Kantarci K. MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene. J Neuroimaging. 2013 Jul; 23(3):409-13. Epub 2012 May 21.
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  45. Fujioka S, Algom AA, Murray ME, Strongosky A, Soto-Ortolaza AI, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. Neurology. 2013 May 28; 80(22):2076-8. Epub 2013 May 01.
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  46. Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology. 2013 May 7; 80(19):1771-7. Epub 2013 Apr 17.
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  47. Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A, Weitner BB, Mao Q, Lee KH, Mishra M, Ganti RA, Mesulam MM. Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology. 2013 Apr; 33(2):122-33. Epub 2012 Jun 18.
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  48. Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28; 495(7442):467-73. Epub 2013 Mar 03.
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  49. Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 2013 Mar 12; 80(11):1033-40. Epub 2013 Feb 13.
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  50. Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord. 2013 Mar; 19(3):312-5. Epub 2012 Dec 08.
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  51. Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilarino-Guell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol. 2013 Mar; 125(3):425-38. Epub 2012 Nov 04.
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  52. Coon EA, Daube JR, Dejesus-Hernandez M, Adeli A, Savica R, Parisi JE, Dickson DW, Josephs KA, Baker MC, Johnson KA, Ivnik RJ, Petersen RC, Knopman DS, Boylan KB, Rademakers R, Boeve BF. Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Mar; 14(2):132-7. Epub 2012 Oct 04.
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  53. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 2013 Feb 20; 77(4):639-46. Epub 2013 Feb 12.
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  54. Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathol. 2013 Feb; 125(2):289-302. Epub 2012 Sep 28.
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  55. Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord. 2013 Feb; 19(2):198-201. Epub 2012 Oct 18.
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  56. Whitwell JL, Xu J, Mandrekar J, Boeve BF, Knopman DS, Parisi JE, Senjem ML, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA. Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiol Aging. 2013 Feb; 34(2):636-9. Epub 2012 Apr 11.
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  57. Rademakers R, van Blitterswijk M. Motor neuron disease in 2012: Novel causal genes and disease modifiers. Nat Rev Neurol. 2013 Feb; 9(2):63-4. Epub 2013 Jan 15
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  58. Josephs KA, Whitwell JL, Murray ME, Parisi JE, Graff-Radford NR, Knopman DS, Boeve BF, Senjem ML, Rademakers R, Jack CR Jr, Petersen RC, Dickson DW. Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. Brain. 2013 Feb; 136(Pt 2):455-70. Epub 2013 Jan 28.
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  59. Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, TREM2 variants in Alzheimer's disease. N Engl J Med. 2013 Jan 10; 368(2):117-27. Epub 2012 Nov 14.
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  60. Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener. 2013; 8:19. Epub 2013 Jun 21.
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  61. Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R. Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. J Alzheimers Dis. 2013; 33(1):69-76.
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  62. Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. J Alzheimers Dis. 2013; 33 Suppl 1:S35-45.
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  63. Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A. 2012 Dec 26; 109(52):21510-5. Epub 2012 Dec 10.
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  64. Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012 Dec; 33(12):2950.e5-7. Epub 2012 Jul 26.
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  65. van Blitterswijk M, DeJesus-Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol. 2012 Dec; 25(6):689-700.
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  66. Keller BA, Volkening K, Droppelmann CA, Ang LC, Rademakers R, Strong MJ. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathol. 2012 Nov; 124(5):733-47. Epub 2012 Sep 01.
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  67. Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, Seeley W, Miller BL, Boxer AL. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 2012 Sep 4; 79(10):1002-11. Epub 2012 Aug 08.
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