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2020

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
1 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. V., 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

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

Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

on behalf of the ARTFL and LEFFTDS consortia, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 49-59 11 p.

Research output: Contribution to journalArticle

Open Access

Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort

on behalf of the ARTFL and LEFFTDS consortia, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 60-70 11 p.

Research output: Contribution to journalArticle

Open Access

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Jackson, J. L., Finch, N. C. A., Baker, M. C., Kachergus, J. M., Dejesus-Hernandez, M., Pereira, K., Christopher, E., Prudencio, M., Heckman, M. G., Thompson, E. A., Dickson, D. W., Shah, J., Oskarsson, B., Petrucelli, L., Rademakers, R. & Van Blitterswijk, M., Jan 30 2020, In : Molecular neurodegeneration. 15, 1, 7.

Research output: Contribution to journalArticle

Open Access

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

on behalf of the ARTFL/LEFFTDS consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 118-130 13 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

on behalf of the ARTFL/LEFFTDS consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 37-48 12 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

Kempthorne, L., Yoon, H., Madore, C., Smith, S., Wszolek, Z. K., Rademakers, R., Kim, J., Butovsky, O. & Dickson, D. W., May 19 2020, In : Acta Neuropathologica Communications. 8, 1, 72.

Research output: Contribution to journalArticle

Open Access

Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies

Zhou, X., Nicholson, A. M., Ren, Y., Brooks, M., Jiang, P., Zuberi, A., Phuoc, H. N., Perkerson, R. B., Matchett, B., Parsons, T. M., Finch, N. C. A., Lin, W., Qiao, W., Castanedes-Casey, M., Phillips, V., Librero, A. L., Asmann, Y., Bu, G., Murray, M. E., Lutz, C. & 2 others, Dickson, D. W. & Rademakers, R., Jun 1 2020, In : Brain : a journal of neurology. 143, 6, p. 1905-1919 15 p.

Research output: Contribution to journalArticle

3 Scopus citations

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

on Behalf of the LEFFTDS Consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 22-36 15 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study

Chen, Q., Boeve, B. F., Senjem, M., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J., Forsberg, L., Gavrilova, R., Gearhart, D., Graff-Radford, J., Graff-Radford, N., Jack, C. R., Jones, D., Knopman, D., Kremers, W. K., Lapid, M., Rademakers, R., Ramos, E. M. & 5 others, Syrjanen, J., Boxer, A. L., Rosen, H., Wszolek, Z. K. & Kantarci, K., Apr 2020, In : Neurobiology of aging. 88, p. 42-50 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium

Miyagawa, T., Brushaber, D., Syrjanen, J., Kremers, W., Fields, J., Forsberg, L. K., Heuer, H. W., Knopman, D., Kornak, J., Boxer, A., Rosen, H. J., Boeve, B. F., Appleby, B., Bordelon, Y., Bove, J., Brannelly, P., Caso, C., Coppola, G., Dever, R., Dheel, C. & 65 others, Dickerson, B., Dickinson, S., Dominguez, S., Domoto-Reilly, K., Faber, K., Ferrell, J., Fishman, A., Fong, J., Foroud, T., Gavrilova, R., Gearhart, D., Ghazanfari, B., Ghoshal, N., Goldman, J. S., Graff-Radford, J., Graff-Radford, N., Grant, I., Grossman, M., Haley, D., Hsiung, R., Huey, E., Irwin, D., Jones, D., Jones, L., Kantarci, K., Karydas, A., Kaufer, D., Kerwin, D., Kraft, R., Kramer, J., Kukull, W., Litvan, I., Lucente, D., Lungu, C., Mackenzie, I., Maldonado, M., Manoochehri, M., McGinnis, S., McKinley, E., Mendez, M. F., Miller, B., Multani, N., Onyike, C., Padmanabhan, J., Pantelyat, A., Pearlman, R., Petrucelli, L., Potter, M., Rademakers, R., Ramos, E. M., Rankin, K., Rascovsky, K., Roberson, E. D., Rogalski, E., Sengdy, P., Shaw, L., Tartaglia, M. C., Tatton, N., Taylor, J., Toga, A., Trojanowski, J. Q., Wang, P., Weintraub, S., Wong, B. & Wszolek, Z., Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 106-117 12 p.

Research output: Contribution to journalArticle

Open Access
2019

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

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., Jan 1 2019, In : JAMA neurology.

Research output: Contribution to journalArticle

7 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

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: A GENFI study

Mutsaerts, H. J. M. M., Mirza, S. S., Petr, J., Thomas, D. L., Cash, D. M., Bocchetta, M., De Vita, E., Metcalfe, A. W. S., Shirzadi, Z., Robertson, A. D., Tartaglia, M. C., Mitchell, S. B., Black, S. E., Freedman, M., Tang-Wai, D., Keren, R., Rogaeva, E., Van Swieten, J., Laforce, R., Tagliavini, F. & 51 others, Borroni, B., Galimberti, D., Rowe, J. B., Graff, C., Frisoni, G. B., Finger, E., Sorbi, S., De Mendonça, A., Rohrer, J. D., MacIntosh, B. J., Masellis, M., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Binetti, G., Cosseddu, M., Dick, K. M., Fallström, M., Ferreira, C., Fenoglio, C., Fox, N. C., Fumagalli, G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Lombardi, G., Maruta, C., Mead, S., Meeter, L., Van Minkelen, R., Nacmias, B., Öijerstedt, L., Ourselin, S., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rossi, G., Rossor, M. N., Scarpini, E., Thonberg, H., Tiraboschi, P., Verdelho, A. & Warren, J. D., Jan 1 2019, In : Brain. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

Hirsch-Reinshagen, V., Alfaify, O. A., Hsiung, G. Y. R., Pottier, C., Baker, M., Perkerson, R. B., Rademakers, R. V., Briemberg, H., Foti, D. J. & Mackenzie, I. R., Jan 1 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

Research output: Contribution to journalArticle

3 Scopus citations

Coexistence of Progressive Supranuclear Palsy with Pontocerebellar Atrophy and Myotonic Dystrophy Type 1

Koga, S., Eric Ahlskog, J., DeTure, M. A., Baker, M., Roemer, S. F., Konno, T., Rademakers, R., Ross, O. A. & Dickson, D. W., Jan 1 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 8, p. 756-762 7 p.

Research output: Contribution to journalArticle

CSF1R mutation presenting as dementia with Lewy bodies

Sharma, R., Graff-Radford, J., Rademakers, R. V., Boeve, B. F., Petersen, R. C. & Jones, D. T., Jan 1 2019, In : Neurocase.

Research output: Contribution to journalArticle

2 Scopus citations
Open Access

EIF2AK3 variants in Dutch patients with Alzheimer's disease

Wong, T. H., van der Lee, S. J., van Rooij, J. G. J., Meeter, L. H. H., Frick, P., Melhem, S., Seelaar, H., Ikram, M. A., Rozemuller, A. J., Holstege, H., Hulsman, M., Uitterlinden, A., Neumann, M., Hoozemans, J. J. M., van Duijn, C. M., Rademakers, R. & van Swieten, J. C., Jan 2019, In : Neurobiology of aging. 73, p. 229.e11-229.e18

Research output: Contribution to journalArticle

1 Scopus citations

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Carlomagno, Y., Chung, D. E. C., Yue, M., Kurti, A., Avendano, N. M., Castanedes-Casey, M., Hinkle, K. M., Jansen-West, K., Daughrity, L. M., Tong, J., Phillips, V., Rademakers, R., DeTure, M., Fryer, J. D., Dickson, D. W., Petrucelli, L. & Cook, C., Jan 23 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

ALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, Dec 1 2019, In : Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Dickson, D. W., Baker, M. C., Jackson, J. L., Dejesus-Hernandez, M., Finch, N. C. A., Tian, S., Heckman, M. G., Pottier, C., Gendron, T. F., Murray, M. E., Ren, Y., Reddy, J. S., Graff-Radford, N. R., Boeve, B. F., Petersen, R. C., Knopman, D. S., Josephs, K. A., Petrucelli, L., Oskarsson, B., Sheppard, J. W. & 3 others, Asmann, Y. W., Rademakers, R. & Van Blitterswijk, M., Oct 8 2019, In : Acta Neuropathologica Communications. 7, 1, 150.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers

Chen, Q., Boeve, B. F., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J. A., Forsberg, L., Gavrilova, R. M., Gearhart, D., Haley, D., Gunter, J. L., Graff-Radford, J., Jones, D. T., Knopman, D. S., Graff Radford, N. R., Kraft, R., Lapid, M. I., Rademakers, R. V., Syrjanen, J. & 4 others, Wszolek, Z. K., Rosen, H., Boxer, A. L. & Kantarci, K. M., Jan 1 2019, In : Neurology. 93, 8, p. E758-E765

Research output: Contribution to journalArticle

3 Scopus citations

FTLD-TDP with and without GRN mutations cause different patterns of CA1 pathology

Mao, Q., Zheng, X., Gefen, T., Rogalski, E., Spencer, C. L., Rademakers, R., Fought, A. J., Kohler, M., Weintraub, S., Xia, H., Mesulam, M. M. & Bigio, E. H., Sep 1 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 9, p. 844-853 10 p.

Research output: Contribution to journalArticle

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), May 2019, In : Neurobiology of aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

International FTD-Genomics Consortium (IFGC), Dec 1 2019, In : Scientific reports. 9, 1, 10854.

Research output: Contribution to journalArticle

Open Access

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 1 2019, In : Acta neuropathologica. 137, 6, p. 879-899 21 p.

Research output: Contribution to journalArticle

13 Scopus citations

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers

Caverzasi, E., Battistella, G., Chu, S. A., Rosen, H., Zanto, T. P., Karydas, A., Shwe, W., Coppola, G., Geschwind, D. H., Rademakers, R., Miller, B. L., Gorno-Tempini, M. L. & Lee, S. E., Sep 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 9, p. 1005-1010 6 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

Zhang, Y. J., Guo, L., Gonzales, P. K., Gendron, T. F., Wu, Y., Jansen-West, K., O’Raw, A. D., Pickles, S. R., Prudencio, M., Carlomagno, Y., Gachechiladze, M. A., Ludwig, C., Tian, R., Chew, J., DeTure, M., Lin, W. L., Tong, J., Daughrity, L. M., Yue, M., Song, Y. & 15 others, Andersen, J. W., Castanedes-Casey, M., Kurti, A., Datta, A., Antognetti, G., McCampbell, A., Rademakers, R., Oskarsson, B., Dickson, D. W., Kampmann, M., Ward, M. E., Fryer, J. D., Link, C. D., Shorter, J. & Petrucelli, L., Feb 15 2019, In : Science. 363, 6428, eaav2606.

Research output: Contribution to journalArticle

31 Scopus citations

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

International Frontotemporal Dementia Genomics Consortium, Jan 1 2019, In : Nature Medicine. 25, 1, p. 152-164 13 p.

Research output: Contribution to journalArticle

9 Scopus citations

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

Sakae, N., Roemer, S. F., Bieniek, K. F., Murray, M. E., Baker, M. C., Kasanuki, K., Graff-Radford, N. R., Petrucelli, L., Van Blitterswijk, M., Rademakers, R. & Dickson, D. W., Sep 1 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1782-1796 15 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Nonlinear Z-score modeling for improved detection of cognitive abnormality

ARTFL/LEFFTDS consortium, Dec 2019, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 11, p. 797-808 12 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response

Zarb, Y., Weber-Stadlbauer, U., Kirschenbaum, D., Kindler, D. R., Richetto, J., Keller, D., Rademakers, R., Dickson, D. W., Pasch, A., Byzova, T., Nahar, K., Voigt, F. F., Helmchen, F., Boss, A., Aguzzi, A., Klohs, J. & Keller, A., Jan 1 2019, In : Brain. 142, 4, p. 885-902 18 p.

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

Josephs, K. A., Murray, M. E., Tosakulwong, N., Weigand, S. D., Serie, A. M., Perkerson, R. B., Matchett, B. J., Jack, C. R., Knopman, D. S., Petersen, R. C., Parisi, J. E., Petrucelli, L., Baker, M., Rademakers, R., Whitwell, J. L. & Dickson, D. W., Feb 11 2019, In : Acta neuropathologica. 137, 2, p. 227-238 12 p.

Research output: Contribution to journalArticle

10 Scopus citations

Preferential Disruption of Auditory Word Representations in Primary Progressive Aphasia with the Neuropathology of FTLD-TDP Type A

Mesulam, M. M., Nelson, M. J., Hyun, J., Rader, B., Hurley, R. S., Rademakers, R. V., Baker, M. C., Bigio, E. H. & Weintraub, S., Mar 1 2019, In : Cognitive and Behavioral Neurology. 32, 1, p. 46-53 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Rates of lobar atrophy in asymptomatic MAPT mutation carriers

Chen, Q., Boeve, B. F., Senjem, M., Tosakulwong, N., Lesnick, T. G., Brushaber, D., Dheel, C., Fields, J., Forsberg, L., Gavrilova, R., Gearhart, D., Graff-Radford, J., Graff-Radford, N. R., Jack, C. R., Jones, D. T., Knopman, D. S., Kremers, W. K., Lapid, M., Rademakers, R., Syrjanen, J. & 4 others, Boxer, A. L., Rosen, H., Wszolek, Z. K. & Kantarci, K., 2019, In : Alzheimer's and Dementia: Translational Research and Clinical Interventions. 5, p. 338-346 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort

Cury, C., Durrleman, S., Cash, D. M., Lorenzi, M., Nicholas, J. M., Bocchetta, M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Ourselin, S. & 43 others, Rohrer, J. D., Modat, M., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Black, S., Cosseddu, M., Fallstrm, M., Ferreira, C., Fenoglio, C., Fox, N., Freedman, M., Fumagalli, G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Keren, R., Lombardi, G., Maruta, C., Meeter, L., van Minkelen, R., Nacmias, B., ijerstedt, L., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rogaeva, E., Rossi, G., Rossor, M., Scarpini, E., Tang-Wai, D., Thonberg, H., Tiraboschi, P., Verdelho, A. & Warren, J., Mar 1 2019, In : NeuroImage. 188, p. 282-290 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

Ebbert, M. T. W., Jensen, T. D., Jansen-West, K., Sens, J. P., Reddy, J. S., Ridge, P. G., Kauwe, J. S. K., Belzil, V., Pregent, L., Carrasquillo, M. M., Keene, D., Larson, E., Crane, P., Asmann, Y. W., Ertekin-Taner, N., Younkin, S. G., Ross, O. A., Rademakers, R., Petrucelli, L. & Fryer, J. D., May 20 2019, In : Genome biology. 20, 1, 97.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers

Lee, S. E., Sias, A. C., Kosik, E. L., Flagan, T. M., Deng, J., Chu, S. A., Brown, J. A., Vidovszky, A. A., Ramos, E. M., Gorno-Tempini, M. L., Karydas, A. M., Coppola, G., Geschwind, D. H., Rademakers, R., Boeve, B. F., Boxer, A. L., Rosen, H. J., Miller, B. L. & Seeley, W. W., 2019, In : NeuroImage: Clinical. 22, 101751.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

LEFFTDS Consortium, Nov 2019, In : Neurobiology of aging. 83, p. 54-62 9 p.

Research output: Contribution to journalArticle

3 Scopus citations
2018

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

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

Combined pathologies in FTLD-TDP types A and C

Gefen, T., Ahmadian, S. S., Mao, Q., Kim, G., Seckin, M., Bonakdarpour, B., Ramos, E. M., Coppola, G., Rademakers, R. V., Rogalski, E., Rademaker, A., Weintraub, S., Mesulam, M. M., Geula, C. & Bigio, E. H., May 1 2018, In : Journal of Neuropathology and Experimental Neurology. 77, 5, p. 405-412 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

CXCR4 involvement in neurodegenerative diseases

International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genetics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Dec 1 2018, In : Translational psychiatry. 8, 1, 73.

Research output: Contribution to journalArticle

13 Scopus citations

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

Mordes, D. A., Prudencio, M., Goodman, L. D., Klim, J. R., Moccia, R., Limone, F., Pietilainen, O., Chowdhary, K., Dickson, D. W., Rademakers, R., Bonini, N. M., Petrucelli, L. & Eggan, K., Jul 4 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

102 Scopus citations