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  • 81 Scopus h-Index
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2014

ALS-FTD complex disorder due to C9ORF72 gene mutation: Description of first polish family

Siuda, J., Lewicka, T., Bujak, M., Opala, G., Golenia, A., Slowik, A., Van Blitterswijk, M., Baker, M., Ertekin-Taner, N., Wszolek, Z. K. & Rademakers, R., Jul 2014, In : European Neurology. 72, 1-2, p. 64-71 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

Lee, S. E., Khazenzon, A. M., Trujillo, A. J., Guo, C. C., Yokoyama, J. S., Sha, S. J., Takada, L. T., Karydas, A. M., Block, N. R., Coppola, G., Pribadi, M., Geschwind, D. H., Rademakers, R., Fong, J. C., Weiner, M. W., Boxer, A. L., Kramer, J. H., Rosen, H. J., Miller, B. L. & Seeley, W. W., 2014, In : Brain. 137, 11, p. 3047-3060 14 p.

Research output: Contribution to journalArticle

67 Scopus citations

Analysis of COQ2 gene in multiple system atrophy

Ogaki, K., Fujioka, S., Heckman, M. G., Rayaprolu, S., Soto-Ortolaza, A. I., Labbé, C., Walton, R. L., Lorenzo-Betancor, O., Wang, X., Asmann, Y., Rademakers, R., Graff-Radford, N., Uitti, R., Cheshire, W. P., Wszolek, Z. K., Dickson, D. W. & Ross, O. A., Jan 1 2014, In : Molecular neurodegeneration. 9, 1 p.

Research output: Contribution to journalArticle

21 Scopus citations

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Guerreiro, R., Brás, J., Wojtas, A., Rademakers, R., Hardy, J. & Graff-Radford, N., Nov 1 2014, In : Neurobiology of aging. 35, 11, p. 2656.e13-2656.e16

Research output: Contribution to journalArticle

19 Scopus citations

A novel GRN mutation (GRN c.708+6-+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: Clinicopathologic report of 6 cases

Bit-Ivan, E. N., Suh, E., Shim, H. S., Weintraub, S., Hyman, B. T., Arnold, S. E., McCarty-Wood, E., Van Deerlin, V. M., Schneider, J. A., Trojanowski, J. Q., Frosch, M. P., Baker, M. C., Rademakers, R., Mesulam, M. & Bigio, E. H., May 2014, In : Journal of Neuropathology and Experimental Neurology. 73, 5, p. 467-473 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

van Blitterswijk, M., Mullen, B., Heckman, M. G., Baker, M. C., DeJesus-Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L., Neumann, M., Strong, M. J., Beach, T. G. & 17 others, Wszolek, Z. K., Lippa, C., Caselli, R., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Oct 2014, In : Neurobiology of aging. 35, 10, p. 2421.e13-2421.e17

Research output: Contribution to journalArticle

57 Scopus citations

Differential clinicopathologic and genetic features of late-onset amnestic dementias

Murray, M. E., Cannon, A., Graff-Radford, N. R., Liesinger, A. M., Rutherford, N. J., Ross, O. A., Duara, R., Carrasquillo, M. M., Rademakers, R. & Dickson, D. W., Sep 2014, In : Acta neuropathologica. 128, 3, p. 411-421 11 p.

Research output: Contribution to journalArticle

67 Scopus citations

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Su, Z., Zhang, Y., Gendron, T. F., Bauer, P. O., Chew, J., Yang, W. Y., Fostvedt, E., Jansen-West, K., Belzil, V. V., Desaro, P., Johnston, A., Overstreet, K., Oh, S. Y., Todd, P. K., Berry, J. D., Cudkowicz, M. E., Boeve, B. F., Dickson, D., Floeter, M. K., Traynor, B. J. & 9 others, Morelli, C., Ratti, A., Silani, V., Rademakers, R., Brown, R. H., Rothstein, J. D., Boylan, K. B., Petrucelli, L. & Disney, M. D., Sep 3 2014, In : Neuron. 83, 5, p. 1043-1050 8 p.

Research output: Contribution to journalArticle

181 Scopus citations

Early neuropsychological characteristics of progranulin mutation carriers

Hallam, B. J., Jacova, C., Hsiung, G. Y. R., Wittenberg, D., Sengdy, P., Bouchard-Kerr, P., Slack, P., Rademakers, R., Baker, M., Chow, T. W., Levine, B., Feldman, H. H. & Mackenzie, I. R., Jan 1 2014, In : Journal of the International Neuropsychological Society. 20, 7, p. 694-703 10 p.

Research output: Contribution to journalArticle

10 Scopus citations

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

Bieniek, K. F., Van Blitterswijk, M., Baker, M. C., Petrucelli, L., Rademakers, R. & Dickson, D. W., Jun 2014, In : JAMA neurology. 71, 6, p. 775-781 7 p.

Research output: Contribution to journalArticle

22 Scopus citations

Frontotemporal dementia and its subtypes: A genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks William S., B. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A. & 138 others, Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van der Zee, J., Deschamps, W., Van Langenhove, T., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Jul 2014, In : The Lancet Neurology. 13, 7, p. 686-699 14 p.

Research output: Contribution to journalArticle

133 Scopus citations

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

Van Blitterswijk, M., Mullen, B., Wojtas, A., Heckman, M. G., Diehl, N. N., Baker, M. C., DeJesus-Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L., Neumann, M. & 19 others, Strong, M. J., Beach, T. G., Wszolek, Z. K., Lippa, C., Caselli, R. J., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R. V., 2014, In : Molecular Neurodegeneration. 9, p. 38 1 p.

Research output: Contribution to journalArticle

38 Scopus citations

Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology

Sanchez-Contreras, M., Baker, M. C., Finch, N. A., Nicholson, A., Wojtas, A., Wszolek, Z. K., Ross, O. A., Dickson, D. W. & Rademakers, R., Aug 2014, In : Human mutation. 35, 8, p. 964-971 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

Kouri, N., Carlomagno, Y., Baker, M., Liesinger, A. M., Caselli, R. J., Wszolek, Z. K., Petrucelli, L., Boeve, B. F., Parisi, J. E., Josephs, K. A., Uitti, R. J., Ross, O. A., Graff-Radford, N. R., Deture, M. A., Dickson, D. W. & Rademakers, R., Feb 1 2014, In : Acta neuropathologica. 127, 2, p. 271-282 12 p.

Research output: Contribution to journalArticle

48 Scopus citations

Progranulin-associated PiB-negative logopenic primary progressive aphasia

Josephs, K. A., Duffy, J. R., Strand, E. A., Machulda, M. M., Vemuri, P., Senjem, M. L., Perkerson, R. B., Baker, M. C., Lowe, V., Jack, C. R., Rademakers, R. & Whitwell, J. L., Mar 2014, In : Journal of Neurology. 261, 3, p. 604-614 11 p.

Research output: Contribution to journalArticle

28 Scopus citations

Progranulin protein levels are differently regulated in plasma and CSF

Nicholson, A. M., Finch, N. C. A., Thomas, C. S., Wojtas, A., Rutherford, N. J., Mielke, M. M., Roberts, R. O., Boeve, B. F., Knopman, D. S., Petersen, R. C. & Rademakers, R., May 27 2014, In : Neurology. 82, 21, p. 1871-1878 8 p.

Research output: Contribution to journalArticle

46 Scopus citations

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease

Shinohara, M., Fujioka, S., Murray, M. E., Wojtas, A., Baker, M., Rovelet-Lecrux, A., Rademakers, R., Das, P., Parisi, J. E., Graff-Radford, N. R., Petersen, R. C., Dickson, D. W. & Bu, G., May 2014, In : Brain. 137, 5, p. 1533-1549 17 p.

Research output: Contribution to journalArticle

68 Scopus citations

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Baker, M., Strongosky, A. J., Sanchez-Contreras, M. Y., Yang, S., Ferguson, W., Calne, D. B., Calne, S., Stoessl, A. J., Allanson, J. E., Broderick, D. F., Hutton, M. L., Dickson, D. W., Ross, O. A., Wszolek, Z. K. & Rademakers, R., Mar 2014, In : Neurogenetics. 15, 1, p. 23-30 8 p.

Research output: Contribution to journalArticle

42 Scopus citations

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency

Lee, W. C., Almeida, S., Prudencio, M., Caulfield, T. R., Zhang, Y. J., Tay, W. M., Bauer, P. O., Chew, J., Sasaguri, H., Jansen-west, K. R., Gendron, T. F., Stetler, C. T., Finch, N. C., Mackenzie, I. R., Rademakers, R., Gao, F. B. & Petrucelli, L., Mar 1 2014, In : Human molecular genetics. 23, 6, p. 1467-1478 12 p., ddt534.

Research output: Contribution to journalArticle

49 Scopus citations

The GGGGCC Repeat Expansion in C9ORF72 in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome

Adeli, A., Savica, R., Lowe, V. J., Vemuri, P., Knopman, D. S., DeJesus-Hernandez, M., Rademakers, R., Fields, J. A., Crum, B. A., Jack, C. R., Petersen, R. C. & Boeve, B. F., Jan 1 2014, In : Neurocase. 20, 1, p. 110-120 11 p.

Research output: Contribution to journalArticle

13 Scopus citations

The neuropsychology of normal aging and preclinical Alzheimer's disease

Caselli, R. J., Locke, D. E. C., Dueck, A. C., Knopman, D. S., Woodruff, B. K., Hoffman-Snyder, C., Rademakers, R., Fleisher, A. S. & Reiman, E. M., Jan 1 2014, In : Alzheimer's and Dementia. 10, 1, p. 84-92 9 p.

Research output: Contribution to journalArticle

40 Scopus citations

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Van Blitterswijk, M., Mullen, B., Nicholson, A. M., Bieniek, K. F., Heckman, M. G., Baker, M. C., Dejesus-Hernandez, M., Finch, N. A., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L. & 19 others, Strong, M. J., Beach, T. G., Wszolek, Z. K., Lippa, C., Caselli, R., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Mar 1 2014, In : Acta neuropathologica. 127, 3, p. 397-406 10 p.

Research output: Contribution to journalArticle

81 Scopus citations
2013

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

DeJesus-Hernandez, M., Rayaprolu, S., Soto-Ortolaza, A. I., Rutherford, N. J., Heckman, M. G., Traynor, S., Strongosky, A., Graff-Radford, N., Van Gerpen, J., Uitti, R. J., Shih, J. J., Lin, S. C., Wszolek, Z. K., Rademakers, R. & Ross, O. A., Feb 1 2013, In : Parkinsonism and Related Disorders. 19, 2, p. 198-201 4 p.

Research output: Contribution to journalArticle

27 Scopus citations

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers

Jacova, C., Hsiung, G. Y. R., Tawankanjanachot, I., Dinelle, K., McCormick, S., Gonzalez, M., Lee, H., Sengdy, P., Bouchard-Kerr, P., Baker, M., Rademakers, R., Sossi, V., Stoessl, A. J., Feldman, H. H. & Mackenzie, I. R., Oct 8 2013, In : Neurology. 81, 15, p. 1322-1331 10 p.

Research output: Contribution to journalArticle

31 Scopus citations

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Gendron, T. F., Bieniek, K. F., Zhang, Y. J., Jansen-West, K., Ash, P. E. A., Caulfield, T., Daughrity, L., Dunmore, J. H., Castanedes-Casey, M., Chew, J., Cosio, D. M., Van Blitterswijk, M., Lee, W. C., Rademakers, R., Boylan, K. B., Dickson, D. W. & Petrucelli, L., Dec 1 2013, In : Acta neuropathologica. 126, 6, p. 829-844 16 p.

Research output: Contribution to journalArticle

258 Scopus citations

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study

van Blitterswijk, M., DeJesus-Hernandez, M., Niemantsverdriet, E., Murray, M. E., Heckman, M. G., Diehl, N. N., Brown, P. H., Baker, M. C., Finch, N. C. A., Bauer, P. O., Serrano, G., Beach, T. G., Josephs, K. A., Knopman, D. S., Petersen, R. C., Boeve, B. F., Graff-Radford, N. R., Boylan, K. B., Petrucelli, L., Dickson, D. W. & 1 others, Rademakers, R., Oct 1 2013, In : The Lancet Neurology. 12, 10, p. 978-988 11 p.

Research output: Contribution to journalArticle

141 Scopus citations

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Van Blitterswijk, M., Baker, M. C., Hernandez, M., Ghidoni, R., Benussi, L., Finger, E., Hsiung, G. Y. R., Kelley, B. J., Murray, M. E., Rutherford, N. J., Brown, P. E., Ravenscroft, T., Mullen, B., Ash, P. E. A., Bieniek, K. F., Hatanpaa, K. J., Karydas, A., Wood, E. M. C., Coppola, G., Bigio, E. H. & 22 others, Lippa, C., Strong, M. J., Beach, T. G., Knopman, D. S., Huey, E. D., Mesulam, M., Bird, T., White, C. L., Kertesz, A., Geschwind, D. H., Van Deerlin, V. M., Petersen, R. C., Binetti, G., Miller, B. L., Petrucelli, L., Wszolek, Z. K., Boylan, K. B., Graff-Radford, N. R., MacKenzie, I. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Oct 8 2013, In : Neurology. 81, 15, p. 1332-1341 10 p.

Research output: Contribution to journalArticle

65 Scopus citations

Clinical/scientific notes

Fujioka, S., Algom, A. A., Murray, M. E., Strongosky, A., Soto-Ortolaza, A. I., Rademakers, R., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., May 28 2013, In : Neurology. 80, 22, p. 2076-2078 3 p.

Research output: Contribution to journalArticle

9 Scopus citations

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

Coon, E. A., Daube, J. R., Dejesus-Hernandez, M., Adeli, A., Savica, R., Parisi, J. E., Dickson, D. W., Josephs, K. A., Baker, M. C., Johnson, K. A., Ivnik, R. J., Petersen, R. C., Knopman, D. S., Boylan, K. B., Rademakers, R. & Boeve, B. F., Mar 1 2013, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 14, 2, p. 132-137 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

Cannon, A., Fujioka, S., Rutherford, N. J., Ferman, T. J., Broderick, D. F., Boylan, K. B., Graff-Radford, N. R., Uitti, R. J., Rademakers, R., Wszolek, Z. K. & Dickson, D. W., May 7 2013, In : Neurology. 80, 19, p. 1771-1777 7 p.

Research output: Contribution to journalArticle

15 Scopus citations
23 Scopus citations

CSF1R mutations link POLD and HDLS as a single disease entity

Nicholson, A. M., Baker, M. C., Finch, N. C. A., Rutherford, N. J., Wider, C., Graff-Radford, N. R., Nelson, P. T., Clark, H. B., Wszolek, Z. K., Dickson, D. W., Knopman, D. S. & Rademakers, R., Mar 12 2013, In : Neurology. 80, 11, p. 1033-1040 8 p.

Research output: Contribution to journalArticle

79 Scopus citations

Estimating the age of the most common italian grn mutation: Walking back to Canossa Times

Benussi, L., Rademakers, R., Rutherford, N. J., Wojtas, A., Glionna, M., Paterlini, A., Albertini, V., Bettecken, T., Binetti, G. & Ghidoni, R., Jan 1 2013, In : Journal of Alzheimer's Disease. 33, 1, p. 69-76 8 p.

Research output: Contribution to journalArticle

10 Scopus citations
37 Scopus citations

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: Clinicopathologic correlation

Bigio, E. H., Weintraub, S., Rademakers, R., Baker, M., Ahmadian, S. S., Rademaker, A., Weitner, B. B., Mao, Q., Lee, K. H., Mishra, M., Ganti, R. A. & Mesulam, M. M., Apr 2013, In : Neuropathology. 33, 2, p. 122-133 12 p.

Research output: Contribution to journalArticle

26 Scopus citations
1 Scopus citations

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Kim, H. J., Kim, N. C., Wang, Y. D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., Kanagaraj, A. P., Carter, R., Boylan, K. B., Wojtas, A. M., Rademakers, R., Pinkus, J. L., Greenberg, S. A., Trojanowski, J. Q., Traynor, B. J., Smith, B. N. & 17 others, Topp, S., Gkazi, A. S., Miller, J., Shaw, C. E., Kottlors, M., Kirschner, J., Pestronk, A., Li, Y. R., Ford, A. F., Gitler, A. D., Benatar, M., King, O. D., Kimonis, V. E., Ross, E. D., Weihl, C. C., Shorter, J. & Taylor, J. P., Mar 28 2013, In : Nature. 495, 7442, p. 467-473 7 p.

Research output: Contribution to journalArticle

700 Scopus citations

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS

Ravenscroft, T. A., Baker, M. C., Rutherford, N. J., Neumann, M., Mackenzie, I. R., Josephs, K. A., Boeve, B. F., Petersen, R., Halliday, G. M., Kril, J., van Swieten, J. C., Seeley, W. W., Dickson, D. W. & Rademakers, R., Sep 2013, In : Neurobiology of aging. 34, 9, p. 2235.e11-2235.e13

Research output: Contribution to journalArticle

7 Scopus citations

Neurodegenerative disease phenotypes in carriers of MAPT P.A152T, a risk factor for frontotemporal dementia spectrum disorders and alzheimer disease

Lee, S. E., Tartaglia, M. C., Yener, G., Genç, S., Seeley, W. W., Sanchez-Juan, P., Moreno, F., Mendez, M. F., Klein, E., Rademakers, R., Munain, A. L. D., Combarros, O., Kramer, J. H., Kenet, R. O., Boxer, A. L., Geschwind, M. D., Gorno-Tempini, M. L., Karydas, A. M., Rabinovici, G. D., Coppola, G. & 2 others, Geschwind, D. H. & Miller, B. L., Oct 1 2013, In : Alzheimer disease and associated disorders. 27, 4, p. 302-309 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Sundal, C., Fujioka, S., Van Gerpen, J. A., Wider, C., Nicholson, A. M., Baker, M., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Tselis, A., Swerdlow, R. H., Miller, B. B., Borjesson-Hanson, A., Uitti, R. J., Ross, O. A., Stoessl, A. J., Rademakers, R. & 4 others, Josephs, K. A., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Oct 1 2013, In : Parkinsonism and Related Disorders. 19, 10, p. 869-877 9 p.

Research output: Contribution to journalArticle

41 Scopus citations
22 Scopus citations

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72

Murray, M. E., Bieniek, K. F., Banks Greenberg, M., Dejesus-Hernandez, M., Rutherford, N. J., Van Blitterswijk, M., Niemantsverdriet, E., Ash, P. E., Gendron, T. F., Kouri, N., Baker, M., Goodman, I. J., Petrucelli, L., Rademakers, R. & Dickson, D. W., Aug 7 2013, In : Acta neuropathologica. 126, 4, p. 545-554 10 p.

Research output: Contribution to journalArticle

18 Scopus citations

Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 Mutation: A detailed clinical cohort

Kertesz, A., Ang, L. C., Jesso, S., MacKinley, J., Baker, M., Brown, P., Shoesmith, C., Rademakers, R. & Finger, E. C., Sep 1 2013, In : Cognitive and Behavioral Neurology. 26, 3, p. 146-154 9 p.

Research output: Contribution to journalArticle

42 Scopus citations

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

Belzil, V. V., Bauer, P. O., Prudencio, M., Gendron, T. F., Stetler, C. T., Yan, I. K., Pregent, L., Daughrity, L., Baker, M. C., Rademakers, R., Boylan, K., Patel, T. C., Dickson, D. W. & Petrucelli, L., Oct 29 2013, In : Acta neuropathologica. 126, 6, p. 895-905 11 p.

Research output: Contribution to journalArticle

151 Scopus citations

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

Fujioka, S., Sundal, C., Strongosky, A. J., Castanedes, M. C., Rademakers, R., Ross, O. A., Vilariño-Güell, C., Farrer, M. J., Wszolek, Z. K. & Dickson, D. W., Mar 2013, In : Acta neuropathologica. 125, 3, p. 425-438 14 p.

Research output: Contribution to journalArticle

14 Scopus citations

TARDBP mutations in Parkinson's disease

Rayaprolu, S., Fujioka, S., Traynor, S., Soto-Ortolaza, A. I., Petrucelli, L., Dickson, D. W., Rademakers, R., Boylan, K. B., Graff-Radford, N. R., Uitti, R. J., Wszolek, Z. K. & Ross, O. A., Mar 1 2013, In : Parkinsonism and Related Disorders. 19, 3, p. 312-315 4 p.

Research output: Contribution to journalArticle

24 Scopus citations

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

Bieniek, K. F., Murray, M. E., Rutherford, N. J., Castanedes-Casey, M., Dejesus-Hernandez, M., Liesinger, A. M., Baker, M. C., Boylan, K. B., Rademakers, R. & Dickson, D. W., Feb 1 2013, In : Acta neuropathologica. 125, 2, p. 289-302 14 p.

Research output: Contribution to journalArticle

60 Scopus citations

TDP-43 frontotemporal lobar degeneration and autoimmune disease

Miller, Z. A., Rankin, K. P., Graff-Radford, N. R., Takada, L. T., Sturm, V. E., Cleveland, C. M., Criswell, L. A., Jaeger, P. A., Stan, T., Heggeli, K. A., Hsu, S. C., Karydas, A., Khan, B. K., Grinberg, L. T., Gorno-Tempini, M. L., Boxer, A. L., Rosen, H. J., Kramer, J. H., Coppola, G., Geschwind, D. H. & 4 others, Rademakers, R., Seeley, W. W., Wyss-Coray, T. & Miller, B. L., Sep 2013, In : Journal of Neurology, Neurosurgery and Psychiatry. 84, 9, p. 956-962 7 p.

Research output: Contribution to journalArticle

81 Scopus citations

TMEM106B p.T185S regulates TMEM106B protein levels: Implications for frontotemporal dementia

Nicholson, A. M., Finch, N. A., Wojtas, A., Baker, M. C., Perkerson, R. B., Castanedes-Casey, M., Rousseau, L., Benussi, L., Binetti, G., Ghidoni, R., Hsiung, G. Y. R., Mackenzie, I. R., Finger, E., Boeve, B. F., Ertekin-Taner, N., Graff-Radford, N. R., Dickson, D. W. & Rademakers, R., Sep 1 2013, In : Journal of neurochemistry. 126, 6, p. 781-791 11 p.

Research output: Contribution to journalArticle

44 Scopus citations

TREM2 in neurodegeneration: Evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

Rayaprolu, S., Mullen, B., Baker, M., Lynch, T., Finger, E., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., Lippa, C., Josephs, K. A., Knopman, D. S., White, C. L., Caselli, R., Mackenzie, I. R., Miller, B. L., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A. & 13 others, Barcikowska, M., Younkin, S. G., Petersen, R. C., Ertekin-Taner, N., Uitti, R. J., Meschia, J. F., Boylan, K. B., Boeve, B. F., Graff-Radford, N. R., Wszolek, Z. K., Dickson, D. W., Rademakers, R. & Ross, O. A., 2013, In : Molecular neurodegeneration. 8, 1, 19.

Research output: Contribution to journalArticle

203 Scopus citations