Publications

  1. Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB, 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 Jun 06. [Epub ahead of print] 2328454
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  2. 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. 2320456
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  3. 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. 2317712
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  4. 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 May 02. [Epub ahead of print] 2320458
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  5. 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 Apr 28. [Epub ahead of print] 2320469
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  6. 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. 2252571
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  7. 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. 2013 Mar 26. [Epub ahead of print] 2314148
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  8. Lee SE, Tartaglia MC, Yener G, Genc S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, Munain AL, 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 Mar 25. [Epub ahead of print] 2311994
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  9. 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. 2304047
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  10. 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. 2274544
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  11. 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. 2289484
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  12. 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. 2281818
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  13. 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. 2304028
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  14. 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. 2278577
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  15. 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. 2276827
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  16. 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. 2238961
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  17. 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. 2296269
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  18. 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. 2299568
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  19. 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. 2316489
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  20. 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; 495(7442):467-73. 2320539
  21. 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. 2293559
  22. Rademakers R, Van Blitterswijk M. Novel causal genes and disease modifiers. Nat. Rev. Neurol. 2013; 9(2):63-4. 2307519
  23. 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. 2256089
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  24. 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. 2290414
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  25. 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. 2284681
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  26. 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. 2261294
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  27. 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. 2012 Nov 30. [Epub ahead of print] 2287755
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  28. 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. 2286754
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  29. 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. 2263388
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  30. Kandiah N, Sengdy P, Mackenzie IRA, Hsiung GR, DeJesus-Hernandez M, Rademakers R. Rapidly progressive dementia in a Chinese patient due to C9ORF72 mutation. The Canadian Journal of Neurological Sciences/ Le Journal Canadien Des Sciences Neurologiques. 2012 Sep; 39(5):676-7. 2281331
  31. Takada LT, Pimentel ML, Dejesus-Hernandez M, Fong JC, Yokoyama JS, Karydas A, Thibodeau MP, Rutherford NJ, Baker MC, Lomen-Hoerth C, Rademakers R, Miller BL. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch Neurol. 2012 Sep; 69(9):1149-53. 2276575
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  32. Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Arch Neurol. 2012 Sep; 69(9):1164-9. 2276590
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  33. Duker AP, Espay AJ, Wszolek ZK, Rademakers R, Dickson DW, Kelley BJ. Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist. 2012 Sep; 18(5):266-72. 2267973
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  34. Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R. TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease. Neurology. 2012 Aug 14; 79(7):717-8. Epub 2012 Aug 01. 2261734
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  35. Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012 Aug 7; 79(6):566-74. Epub 2012 Jul 25. 2261710
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  36. Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012 Aug 1; 21(15):3500-12. Epub 2012 May 03. 2251064
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  37. Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012 Aug; 8(8):423-34. Epub 2012 Jun 26. 2253213
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  38. Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R. C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology. 2012 Jul 31; 79(5):482-3. Epub 2012 Jul 18. 2259029
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  39. 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. 2012 May 21. [Epub ahead of print] 2247793
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  40. McDade E, Boeve BF, Burrus TM, Boot BP, Kantarci K, Fields J, Lowe VJ, Peller P, Knopman D, Baker M, Finch N, Rademakers R, Petersen R. Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin. Neurology. 2012 Apr 17; 78(16):1245-9. Epub 2012 Apr 04. 2241157
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  41. Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry. 2012 Apr; 83(4):358-64. 2235845
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  42. Wider C, Ross OA, Nishioka K, Heckman MG, Vilarino-Guell C, Jasinska-Myga B, Erketin-Taner N, Rademakers R, Graff-Radford NR, Mash DC, Papapetropoulos S, Duara R, Uchikado H, Wszolek ZK, Farrer MJ, Dickson DW. An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry. 2012 Apr; 83(4):424-9. Epub 2012 Jan 30. 2221001
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  43. Sundal C, Lash J, Aasly J, Oygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci. 2012 Mar 15; 314(1-2):130-7. Epub 2011 Nov 01. 2203399
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  44. Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. 2012 Mar; 123(3):409-17. Epub 2012 Jan 07. 2235815
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  45. Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain. 2012 Mar; 135(Pt 3):709-22. Epub 2012 Feb 17. 2235760
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  46. Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012 Mar; 135(Pt 3):794-806. 2227679
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  47. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar; 135(Pt 3):765-83. 2227707
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  48. Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R. Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Feb; 33(2):424.e23-4. Epub 2010 Nov 12. 2124044
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  49. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2012 Feb; 44(2):200-5. Epub 2011 Dec 25. 2213598
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  50. Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chio A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simon-Sanchez J, van Swieten JC, Heutink P, Restagno G, Mora Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging. 2012 Jan; 33(1):209.e3-8. Epub 2011 Sep 16. 2211487
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  51. Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. Advances in Alzheimer's Disease. 2012; 3:35-45. 2329781
  52. Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Am J Neurodegener Dis. 2012; 1(1):107-18. Epub 2012 May 16. 2301275
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  53. Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjaer A, Petrucelli L. Progranulin regulates neuronal outgrowth independent of sortilin. Mol Neurodegener. 2012; 7:33. Epub 2012 Jul 10. 2287313
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  54. Verbeeck C, Deng Q, Dejesus-Hernandez M, Taylor G, Ceballos-Diaz C, Kocerha J, Golde T, Das P, Rademakers R, Dickson DW, Kukar T. Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis. Mol Neurodegener. 2012; 7:53. Epub 2012 Oct 10. 2297436
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  55. Nicholson AM, Gass J, Petrucelli L, Rademakers R. Progranulin axis and recent developments in frontotemporal lobar degeneration. Alzheimers Res Ther. 2012; 4(1):4. Epub 2012 Jan 23. 2219706
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  56. Potts LF, Cambon AC, Ross OA, Rademakers R, Dickson DW, Uitti RJ, Wszolek ZK, Rai SN, Farrer MJ, Hein DW, Litvan I. Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. BMC Med Genet. 2012; 13:16. Epub 2012 Mar 17. 2248941
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  57. Lee SE, Seeley WW, Poorzand P, Rademakers R, Karydas A, Stanley CM, Miller BL, Rankin KP. Clinical characterization of bvFTD due to FUS neuropathology. Neurocase. 2012; 18(4):305-17. Epub 2011 Nov 07. 2267605
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  58. Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford N A yeast functional screen predicts new candidate ALS disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of. 2011 Dec 27; 108(52):20881-90. 2221539
  59. Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 2011 Dec; 122(6):673-90. Epub 2011 Nov 15. 2206597
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  60. Dopper EG, Seelaar H, Chiu WZ, de Koning I, van Minkelen R, Baker MC, Rozemuller AJ, Rademakers R, van Swieten JC. Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. J Mol Neurosci. 2011 Nov; 45(3):354-8. Epub 2011 Aug 24. 2208981
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  61. Nicholson AM, Finch NA, Rademakers R. Human genetics as a tool to identify progranulin regulators. J Mol Neurosci. 2011 Nov; 45(3):532-7. Epub 2011 May 28. 2167770
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  62. Kouri N, Murray ME, Hassan A, Rademakers R, Uitti RJ, Boeve BF, Graff-Radford NR, Wszolek ZK, Litvan I, Josephs KA, Dickson DW. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain. 2011 Nov; 134(Pt 11):3264-75. Epub 2011 Sep 20. 2192280
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  63. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct 20; 72(2):245-56. Epub 2011 Sep 21. 2196787
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  64. Pao WC, Dickson DW, Crook JE, Finch NA, Rademakers R, Graff-Radford NR. Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically. Alzheimer Dis Assoc Disord. 2011 Oct; 25(4):364-8. 2151739
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  65. DeJesus-Hernandez M, Desaro P, Johnston A, Ross OA, Wszolek ZK, Ertekin-Taner N, Graff-Radford NR, Rademakers R, Boylan K. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology. 2011 Sep 13; 77(11):1102-3. Epub 2011 Aug 31. 2187824
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  66. Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, Mackenzie IR. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain. 2011 Sep; 134(Pt 9):2595-609. Epub 2011 Aug 19. 2199834
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  67. Kumar N, Boeve BF, Boot BP, Orr CF, Duffy J, Woodruff BK, Nair AK, Ellison J, Kuntz K, Kantarci K, Jack CR Jr, Westmoreland BF, Fields JA, Baker M, Rademakers R, Parisi JE, Dickson DW. Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. Arch Neurol. 2011 Sep; 68(9):1165-70. 2190687
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  68. Whitwell JL, Josephs KA, Avula R, Tosakulwong N, Weigand SD, Senjem ML, Vemuri P, Jones DT, Gunter JL, Baker M, Wszolek ZK, Knopman DS, Rademakers R, Petersen RC, Boeve BF, Jack CR Jr. Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD. Neurology. 2011 Aug 30; 77(9):866-74. Epub 2011 Aug 17. 2184829
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  69. Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet. 2011 Aug 15; 20(16):3207-12. Epub 2011 May 24. 2166874
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  70. Whitwell JL, Weigand SD, Gunter JL, Boeve BF, Rademakers R, Baker M, Knopman DS, Wszolek ZK, Petersen RC, Jack CR Jr, Josephs KA. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. Neurology. 2011 Jul 26; 77(4):393-8. Epub 2011 Jul 13. 2176118
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