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A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

Winton, M. J., Van Deerlin, V. M., Kwong, L. K., Yuan, W., Wood, E. M. C., Yu, C. E., Schellenberg, G. D., Rademakers, R., Caselli, R., Karydas, A., Trojanowski, J. Q., Miller, B. L. & Lee, V. M. Y., Jun 25 2008, In : FEBS Letters. 582, 15, p. 2252-2256 5 p.

Research output: Contribution to journalArticle

68 Scopus citations

A Belgian ancestral haplotype harbours a highly prevalent mutation for I7q21-linked tau-negative FTLD

Van Der Zee, J., Rademakers, R., Engelborghs, S., Gijselinck, I., Bogaerts, V., Vandenberghe, R., Santens, P., Caekebeke, J., De Pooter, T., Peeters, K., Lübke, U., Van Den Broeck, M., Martin, J. J., Cruts, M., De Deyn, P. P., Van Broeckhoven, C. & Dermaut, B., Apr 2006, In : Brain. 129, 4, p. 841-852 12 p.

Research output: Contribution to journalArticle

77 Scopus citations

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Akimoto, C., Volk, A. E., van Blitterswijk, M., Van den Broeck, M., Leblond, C. S., 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. & 23 others, Birve, A., Calini, D., Nordin, A., Tradowsky, D. C., Just, W., Daoud, H., Angerbauer, S., DeJesus-Hernandez, M., Konno, T., Lloyd-Jani, A., de Carvalho, M., Mouzat, K., Landers, J. E., Veldink, J. H., Silani, V., Gitler, A. D., Shaw, C. E., Rouleau, G. A., van den Berg, L. H., Van Broeckhoven, C., Rademakers, R., Andersen, P. M. & Kubisch, C., 2014, In : Journal of medical genetics. 51, 6, p. 419-424 6 p.

Research output: Contribution to journalArticle

69 Scopus citations

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Finch, N. A., Wang, X., Baker, M. C., Heckman, M. G., Gendron, T. F., Bieniek, K. F., Wuu, J., Dejesus-Hernandez, M., Brown, P. H., Chew, J., Jansen-West, K. R., Daughrity, L. M., Nicholson, A. M., Murray, M. E., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F. & 8 others, Graff-Radford, N. R., Asmann, Y. W., Dickson, D. W., Benatar, M., Bowser, R., Boylan, K. B., Rademakers, R. & Van Blitterswijk, M., Jan 1 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype

Josephs, K. A., Whitwell, J. L., Knopman, D. S., Hu, W. T., Stroh, D. A., Baker, M., Rademakers, R., Boeve, B. F., Parisi, J. E., Smith, G. E., Ivnik, R. J., Petersen, R. C., Jack, C. R. & Dickson, D. W., May 2008, In : Neurology. 70, 19 PART 2, p. 1850-1857 8 p.

Research output: Contribution to journalArticle

135 Scopus citations

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

Neumann, M., Roeber, S., Kretzschmar, H. A., Rademakers, R., Baker, M. & MacKenzie, I. R. A., Nov 1 2009, In : Acta neuropathologica. 118, 5, p. 605-616 12 p.

Research output: Contribution to journalArticle

201 Scopus citations

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 60 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E. R., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L. & Rogaeva, E., Oct 1 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

14 Scopus citations

Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration

the ARTFL/LEFFTDS Study, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 91-105 15 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

Bit-Ivan, E. N., Lee, K. H., Gitelman, D., Weintraub, S., Mesulam, M., Rademakers, R., Isaacs, A. M., Hatanpaa, K. J., White, C. L., Mao, Q., Akman, O., Dimauro, S. & Bigio, E. H., Oct 1 2014, In : Neuropathology and Applied Neurobiology. 40, 6, p. 778-782 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

A familial form of parkinsonism, dementia, and motor neuron disease: A longitudinal study

Fujioka, S., Boeve, B. F., Parisi, J. E., Tacik, P., Aoki, N., Strongosky, A. J., Baker, M., Sanchez-Contreras, M., Ross, O. A., Rademakers, R., Sossi, V., Dickson, D. W., Stoessl, A. J. & Wszolek, Z. K., Nov 1 2014, In : Parkinsonism and Related Disorders. 20, 11, p. 1129-1134 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., Mead, S., Bocchetta, M., Boeve, B. F., Knopman, D. S., Graff-Radford, N. R., Forsberg, L. K., Rademakers, R., Wszolek, Z. K., van Swieten, J. C., Jiskoot, L. C. & 151 others, Meeter, L. H., Dopper, E. GP., Papma, J. M., Snowden, J. S., Saxon, J., Jones, M., Pickering-Brown, S., Le Ber, I., Camuzat, A., Brice, A., Caroppo, P., Ghidoni, R., Pievani, M., Benussi, L., Binetti, G., Dickerson, B. C., Lucente, D., Krivensky, S., Graff, C., Öijerstedt, L., Fallström, M., Thonberg, H., Ghoshal, N., Morris, J. C., Borroni, B., Benussi, A., Padovani, A., Galimberti, D., Scarpini, E., Fumagalli, G. G., Mackenzie, I. R., Hsiung, G. Y. R., Sengdy, P., Boxer, A. L., Rosen, H., Taylor, J. B., Synofzik, M., Wilke, C., Sulzer, P., Hodges, J. R., Halliday, G., Kwok, J., Sanchez-Valle, R., Lladó, A., Borrego-Ecija, S., Santana, I., Almeida, M. R., Tábuas-Pereira, M., Moreno, F., Barandiaran, M., Indakoetxea, B., Levin, J., Danek, A., Rowe, J. B., Cope, T. E., Otto, M., Anderl-Straub, S., de Mendonça, A., Maruta, C., Masellis, M., Black, S. E., Couratier, P., Lautrette, G., Huey, E. D., Sorbi, S., Nacmias, B., Laforce, R., Tremblay, M. P. L., Vandenberghe, R., Damme, P. V., Rogalski, E. J., Weintraub, S., Gerhard, A., Onyike, C. U., Ducharme, S., Papageorgiou, S. G., Ng, A. S. L., Brodtmann, A., Finger, E., Guerreiro, R., Bras, J., Rohrer, J. D., Heller, C., Convery, R. S., Woollacott, I. OC., Shafei, R. M., Graff-Radford, J., Jones, D. T., Dheel, C. M., Savica, R., Lapid, M. I., Baker, M., Fields, J. A., Gavrilova, R., Domoto-Reilly, K., Poos, J. M., Van der Ende, E. L., Panman, J. L., Donker Kaat, L., Seelaar, H., Richardson, A., Frisoni, G., Mega, A., Fostinelli, S., Chiang, H. H., Alberici, A., Arighi, A., Fenoglio, C., Heuer, H., Miller, B., Karydas, A., Fong, J., João Leitão, M., Santiago, B., Duro, D., Ferreira, C., Gabilondo, A., De Arriba, M., Tainta, M., Zulaica, M., Ferreira, C., Semler, E., Ludolph, A., Landwehrmeyer, B., Volk, A. E., Miltenberger, G., Verdelho, A., Afonso, S., Tartaglia, M. C., Freedman, M., Rogaeva, E., Ferrari, C., Piaceri, I., Bessi, V., Lombardi, G., St-Onge, F., Doré, M. C., Bruffaerts, R., Vandenbulcke, M., Van den Stock, J., Mesulam, M. M., Bigio, E., Koros, C., Papatriantafyllou, J., Kroupis, C., Stefanis, L., Shoesmith, C., Robertson, E., Coppola, G., Da Silva Ramos, E. M. & Geschwind, D., Feb 2020, In : The Lancet Neurology. 19, 2, p. 145-156 12 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Zhang, Y. J., Jansen-West, K., Xu, Y. F., Gendron, T. F., Bieniek, K. F., Lin, W. L., Sasaguri, H., Caulfield, T., Hubbard, J., Daughrity, L., Chew, J., Belzil, V. V., Prudencio, M., Stankowski, J. N., Castanedes-Casey, M., Whitelaw, E., Ash, P. E. A., DeTure, M., Rademakers, R., Boylan, K. B. & 2 others, Dickson, D. W. & Petrucelli, L., Jan 1 2014, In : Acta neuropathologica. 128, 4, p. 505-524 20 p.

Research output: Contribution to journalArticle

159 Scopus citations

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Sitek, E. J., 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, K. M., Wszolek, Z. K. & Slawek, J., Jan 1 2014, In : Neurocase. 20, 1, p. 69-86 18 p.

Research output: Contribution to journalArticle

9 Scopus citations

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 functional connectivity in asymptomatic MAPT subjects A comparison to bvFTD

Whitwell, J. L., Josephs, K. A., Avula, R., Tosakulwong, N., Weigand, S. D., Senjem, M. L., Vemuri, P., Jones, D. T., Gunter, J. L., Baker, M., Wszolek, Z. K., Knopman, D. S., Rademakers, R., Petersen, R. C., Boeve, B. F. & Jack, C. R., Aug 30 2011, In : Neurology. 77, 9, p. 866-874 9 p.

Research output: Contribution to journalArticle

88 Scopus citations

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations

Kocerha, J., Kouri, N., Baker, M., Finch, N. C., DeJesus-Hernandez, M., Gonzalez, J., Chidamparam, K., Josephs, K. A., Boeve, B. F., Graff-Radford, N. R., Crook, J., Dickson, D. W. & Rademakers, R., Oct 27 2011, In : BMC genomics. 12, 527.

Research output: Contribution to journalArticle

32 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

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

Kelley, B. J., Haidar, W., Boeve, B. F., Baker, M., Shiung, M., Knopman, D. S., Rademakers, R., Hutton, M., Adamson, J., Kuntz, K. M., Dickson, D. W., Parisi, J. E., Smith, G. E. & Petersen, R. C., Feb 1 2010, In : Archives of neurology. 67, 2, p. 171-177 7 p.

Research output: Contribution to journalArticle

47 Scopus citations

Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

Cruts, M., Dermaut, B., Rademakers, R., Roks, G., Van den Broeck, M., Munteanu, G., Van Duijn, C. M. & Van Broeckhoven, C., Nov 2 2001, In : Neuroscience Letters. 313, 1-2, p. 105-107 3 p.

Research output: Contribution to journalArticle

36 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

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

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

Wider, C., Ross, O. A., Nishioka, K., Heckman, M. G., Vilariño-Güell, C., Jasinska-Myga, B., Erketin-Taner, N., Rademakers, R., Graff-Radford, N. R., Mash, D. C., Papapetropoulos, S., Duara, R., Uchikado, H., Wszolek, Z. K., Farrer, M. J. & Dickson, D. W., Apr 1 2012, In : Journal of Neurology, Neurosurgery and Psychiatry. 83, 4, p. 424-429 6 p.

Research output: Contribution to journalArticle

42 Scopus citations

A new subtype of frontotemporal lobar degeneration with FUS pathology

Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A. & MacKenzie, I. R. A., Nov 2009, In : Brain. 132, 11, p. 2922-2931 10 p.

Research output: Contribution to journalArticle

456 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 nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Aug 1 2019, In : Acta neuropathologica. 138, 2, p. 237-250 14 p.

Research output: Contribution to journalArticle

Open Access
15 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

A Novel Presenilin 1 Mutation Associated with Pick's Disease but Not β-Amyloid Plaques

Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., Van Den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J. J., Van Broeckhoven, C. & De Deyn, P. P., May 1 2004, In : Annals of neurology. 55, 5, p. 617-626 10 p.

Research output: Contribution to journalArticle

165 Scopus citations

A novel tau mutation, p.K317N, causes globular glial tauopathy

Tacik, P., DeTure, M., Lin, W. L., Sanchez Contreras, M., Wojtas, A., Hinkle, K. M., Fujioka, S., Baker, M. C., Walton, R. L., Carlomagno, Y., Brown, P. H., Strongosky, A. J., Kouri, N., Murray, M. E., Petrucelli, L., Josephs, K. A., Rademakers, R., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., Aug 25 2015, In : Acta neuropathologica. 130, 2, p. 199-214 16 p.

Research output: Contribution to journalArticle

29 Scopus citations

A novel Tau Mutation in exon 12, P. Q336H, causes hereditary pick disease

Tacik, P., Deture, M., Hinkle, K. M., Lin, W. L., Sanchez-Contreras, M., Carlomagno, Y., Pedraza, O. D., Rademakers, R. V., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., 2015, In : Journal of Neuropathology and Experimental Neurology. 74, 11, p. 1042-1052 11 p.

Research output: Contribution to journalArticle

13 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

APOE ε2 is associated with increased tau pathology in primary tauopathy

Zhao, N., Liu, C. C., Van Ingelgom, A. J., Linares, C., Kurti, A., Knight, J. A., Heckman, M. G., Diehl, N. N., Shinohara, M., Martens, Y. A., Attrebi, O. N., Petrucelli, L., Fryer, J. D., Wszolek, Z. K., Graff-Radford, N. R., Caselli, R. J., Sanchez-Contreras, M. Y., Rademakers, R., Murray, M. E., Koga, S. & 3 others, Dickson, D. W., Ross, O. A. & Bu, G., Dec 1 2018, In : Nature communications. 9, 1, 4388.

Research output: Contribution to journalArticle

22 Scopus citations

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Johnston, J. J., Sanchez-Contreras, M. Y., Keppler-Noreuil, K. M., Sapp, J., Crenshaw, M., Finch, N. C. A., Cormier-Daire, V., Rademakers, R., Sybert, V. P. & Biesecker, L. G., Sep 3 2015, In : American journal of human genetics. 97, 3, p. 465-474 10 p., 1921.

Research output: Contribution to journalArticle

34 Scopus citations

Apolipoprotein E is a ligand for triggering receptor expressed on myeloid cells 2 (TREM2)

Atagi, Y., Liu, C-C., Painter, M. M., Chen, X. F., Verbeeck, C., Zheng, H., Li, X., Rademakers, R. V., Kang, S., Xu, H., Younkin, S. G., Das, P., Fryer, J. D. & Bu, G. D., Oct 23 2015, In : Journal of Biological Chemistry. 290, 43, p. 26043-26050 8 p.

Research output: Contribution to journalArticle

163 Scopus citations

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

on behalf of the ARTFL/LEFFTDS consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 11-21 11 p.

Research output: Contribution to journalArticle

Open Access

Assessment of olfactory function in MAPT-associated neurodegenerative disease reveals odor-identification irreproducibility as a non-disease-specific, general characteristic of olfactory dysfunction

Markopoulou, K., Chase, B. A., Robowski, P., Strongosky, A., Narozańska, E., Sitek, E. J., Berdynski, M., Barcikowska, M., Baker, M. C., Rademakers, R., Sławek, J., Klein, C., Hückelheim, K., Kasten, M. & Wszolek, Z. K., Nov 2016, In : PloS one. 11, 11, e0165112.

Research output: Contribution to journalArticle

6 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

Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease

Rademakers, R., Sleegers, K., Theuns, J., Van Den Broeck, M., Bel Kacem, S., Nilsson, L. G., Adolfsson, R., Van Duijn, C. M., Van Broeckhoven, C. & Cruts, M., Aug 1 2005, In : Neurobiology of aging. 26, 8, p. 1145-1151 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Association of mapt subhaplotypes with risk of progressive supranuclear palsy and severity of tau pathology

Heckman, M. G., Brennan, R. R., Labbé, C., Soto, A. I., Koga, S., Deture, M. A., Murray, M. E., Petersen, R. C., Boeve, B. F., Van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Rademakers, R., Dickson, D. W. & Ross, O. A., Jun 2019, In : JAMA neurology. 76, 6, p. 710-717 8 p.

Research output: Contribution to journalArticle

7 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

Ataxin-2 repeat-length variation and neurodegeneration

Ross, O. A., Rutherford, N. J., Baker, M., Soto-Ortolaza, A. I., Carrasquillo, M. M., DeJesus-Hernandez, M., Adamson, J., Li, M., Volkening, K., Finger, E., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., Lippa, C., Woodruff, B. K., Knopman, D. S., White, C. L., Van Gerpen, J. A. & 13 others, Meschia, J. F., Mackenzie, I. R., Boylan, K., Boeve, B. F., Miller, B. L., Strong, M. J., Uitti, R. J., Younkin, S. G., Graff-Radford, N. R., Petersen, R. C., Wszolek, Z. K., Dickson, D. W. & Rademakers, R., Aug 2011, In : Human molecular genetics. 20, 16, p. 3207-3212 6 p.

Research output: Contribution to journalArticle

115 Scopus citations

Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations

Whitwell, J. L., Jack, C. R., Boeve, B. F., Senjem, M. L., Baker, M., Ivnik, R. J., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R. & Josephs, K. A., Sep 2009, In : Neurology. 73, 13, p. 1058-1065 8 p.

Research output: Contribution to journalArticle

48 Scopus citations

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Nakamura, M., Bieniek, K. F., Lin, W. L., Graff-Radford, N. R., Murray, M. E., Castanedes-Casey, M., Desaro, P., Baker, M. C., Rutherford, N. J., Robertson, J., Rademakers, R., Dickson, D. W. & Boylan, K. B., Jul 17 2015, In : Acta neuropathologica. 130, 1, p. 145-157 13 p.

Research output: Contribution to journalArticle

10 Scopus citations

ATXN2 trinucleotide repeat length correlates with risk of ALS

Sproviero, W., Shatunov, A., Stahl, D., Shoai, M., van Rheenen, W., Jones, A. R., Al-Sarraj, S., Andersen, P. M., Bonini, N. M., Conforti, F. L., Van Damme, P., Daoud, H., Del Mar Amador, M., Fogh, I., Forzan, M., Gaastra, B., Gellera, C., Gitler, A. D., Hardy, J., Fratta, P. & 27 others, La Bella, V., Le Ber, I., Van Langenhove, T., Lattante, S., Lee, Y. C., Malaspina, A., Meininger, V., Millecamps, S., Orrell, R., Rademakers, R., Robberecht, W., Rouleau, G., Ross, O. A., Salachas, F., Sidle, K., Smith, B. N., Soong, B. W., Sorarù, G., Stevanin, G., Kabashi, E., Troakes, C., van Broeckhoven, C., Veldink, J. H., van den Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 1 2017, In : Neurobiology of aging. 51, p. 178.e1-178.e9

Research output: Contribution to journalArticle

27 Scopus citations

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Karydas, A. M., Wu, T., Ketelle, R. S., Baker, M. C., Hernandez, M. D., Coppola, G., Geschwind, D. H., Rademakers, R., Lee, S. E., Rosen, H. J., Rabinovici, G. D., Seeley, W. W., Rankin, K. P., Boxer, A. L. & 1 others, Miller, B. L., Apr 2012, In : Journal of Neurology, Neurosurgery and Psychiatry. 83, 4, p. 358-364 7 p.

Research output: Contribution to journalArticle

124 Scopus citations

A yeast functional screen predicts new candidate ALS disease genes

Couthouisa, J., Harta, M. P., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A. X., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Chiang, A., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H. J., Solski, J. A., Williams, K. L., Mojsilovic-Petrovic, J., Ingre, C. & 21 others, Boylan, K., Graff-Radford, N. R., Dickson, D. W., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Kalb, R. G., Lee, V. M. Y., Trojanowski, J. Q., Ludolph, A., Robberecht, W., Andersen, P. M., Nicholson, G. A., Blair, I. P., King, O. D., Bonini, N. M., Van, V. D., Rademakers, R., Mourelatos, Z. & Gitler, A. D., Dec 27 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 52, p. 20881-20890 10 p.

Research output: Contribution to journalArticle

242 Scopus citations

Brain atrophy over time in genetic and sporadic frontotemporal dementia: A study of 198 serial magnetic resonance images

Whitwell, J. L., Boeve, B. F., Weigand, S. D., Senjem, M. L., Gunter, J. L., Baker, M. C., Dejesus-Hernandez, M., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R. V., Jack, C. R. J. & Josephs, K. A., May 1 2015, In : European Journal of Neurology. 22, 5, p. 745-752 8 p.

Research output: Contribution to journalArticle

58 Scopus citations

Brain calcifications and PCDH12 variants

Nicolas, G., Sanchez-Contreras, M., Ramos, E. M., Lemos, R. R., Ferreira, J., Moura, D., Sobrido, M. J., Richard, A. C., Lopez, A. R., Legati, A., Deleuze, J. F., Boland, A., Quenez, O., Krystkowiak, P., Favrole, P., Geschwind, D. H., Aran, A., Segel, R., Levy-Lahad, E., Dickson, D. W. & 3 others, Coppola, G., Rademakers, R. & De Oliveira, J. R. M., 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers

Chen, Q., Boeve, B. F., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J., Forsberg, L., Gavrilova, R., Gearhart, D., Haley, D., Gunter, J. L., Graff-Radford, J., Jones, D., Knopman, D., Graff-Radford, N., Kraft, R., Lapid, M., Rademakers, R., Wszolek, Z. K. & 3 others, Rosen, H., Boxer, A. L. & Kantarci, K., Sep 1 2019, In : Journal of Neuroimaging. 29, 5, p. 624-629 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

Zeier, Z., Esanov, R., Belle, K. C., Volmar, C. H., Johnstone, A. L., Halley, P., DeRosa, B. A., Khoury, N., Van Blitterswijk, M., Rademakers, R. V., Albert, J., Brothers, S. P., Wuu, J., Dykxhoorn, D. M., Benatar, M. & Wahlestedt, C., Sep 1 2015, In : Experimental Neurology. 271, p. 241-250 10 p.

Research output: Contribution to journalArticle

15 Scopus citations