• 25573 Citations
  • 77 Scopus h-Index
19992020
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Research Output 2001 2020

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Article
2020

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., Jan 1 2020, (Accepted/In press) In : Neurobiology of aging.

Research output: Contribution to journalArticle

Atrophy
Longitudinal Studies
Mutation
Temporal Lobe
Frontotemporal Lobar Degeneration
2019
9 Citations (Scopus)

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
Lewy Body Disease
Frontotemporal Dementia
Alzheimer Disease
Mutation
Neurodegenerative Diseases
Open Access
Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Executive Function
Dementia
Clinical Trials
6 Citations (Scopus)

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., Murray, M. E., Petersen, R. C., Boeve, B. F., Van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Rademakers, R. V., Dickson, D. W. & Ross, O. A., Jan 1 2019, In : JAMA neurology.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Microtubule-Associated Proteins
Pathology
Haplotypes
Odds Ratio

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. 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., Wszolek, Z. K. & 3 others, Rosen, H., Boxer, A. L. & Kantarci, K. M., Jan 1 2019, In : Journal of Neuroimaging.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Magnetic Resonance Spectroscopy
Mutation
Brain
Gyrus Cinguli
1 Citation (Scopus)

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. V., 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
Cerebrovascular Circulation
Frontotemporal Dementia
Perfusion
Age of Onset
Mutation
2 Citations (Scopus)

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

Primary Progressive Aphasia
Motor Neuron Disease
Phosphotransferases
Mutation
Motor Neurons

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

Progressive Supranuclear Palsy
Myotonic Dystrophy
Atrophy
Multiple System Atrophy
Cerebellar Ataxia

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

Lewy Body Disease
Mutation
Colony-Stimulating Factor Receptors
Leukoencephalopathies
Macrophage Colony-Stimulating Factor
Open Access
Frontotemporal Lobar Degeneration
Neurites
Inclusion Bodies
Mutation
Blood Vessels

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. V., 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

Dependovirus
Phosphorylation
Tauopathies
Brain
Progressive Supranuclear Palsy

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
Frontotemporal Lobar Degeneration
Motor Neuron Disease
Monomeric GTP-Binding Proteins
Dipeptides
GTP Phosphohydrolase Activators
1 Citation (Scopus)

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

Microtubule-Associated Proteins
Frontal Lobe
Magnetic Resonance Spectroscopy
Creatine
Inositol

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. V., 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

Frontotemporal Dementia
Pathology
Haploinsufficiency
Mutation
Frontotemporal Lobar Degeneration
1 Citation (Scopus)

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), May 1 2019, In : Neurobiology of aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
Pathology
Brain
Neurodegenerative Diseases
Cognition
9 Citations (Scopus)

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., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation
1 Citation (Scopus)

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. V., Miller, B. L., Gorno-Tempini, M. L. & Lee, S. E., Jan 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticle

Open Access
Occipital Lobe
Gray Matter
17 Citations (Scopus)

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

Double-Stranded RNA
Heterochromatin
Proline
Arginine
Proteins
5 Citations (Scopus)

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

Gene Regulatory Networks
Dementia
Genes
MicroRNAs
Pharmaceutical Databases
3 Citations (Scopus)

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

ARTFL/LEFFTDS consortium, Jan 1 2019, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Atrophy
Dementia
Logistic Models
Brain
55 Citations (Scopus)

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

Nelson, P. T., Dickson, D. W., Trojanowski, J. Q., Jack, C. R. J., Boyle, P. A., Arfanakis, K., Rademakers, R. V., Alafuzoff, I., Attems, J., Brayne, C., Coyle-Gilchrist, I. T. S., Chui, H. C., Fardo, D. W., Flanagan, M. E., Halliday, G., Hokkanen, S. R. K., Hunter, S., Jicha, G. A., Katsumata, Y., Kawas, C. H. & 15 others, Keene, C. D., Kovacs, G. G., Kukull, W. A., Levey, A. I., Makkinejad, N., Montine, T. J., Murayama, S., Murray, M. E., Nag, S., Rissman, R. A., Seeley, W. W., Sperling, R. A., White, C. L., Yu, L. & Schneider, J. A., Jun 1 2019, In : Brain : a journal of neurology. 142, 6, p. 1503-1527 25 p.

Research output: Contribution to journalArticle

Open Access
Brain Diseases
Consensus
TDP-43 Proteinopathies
Frontotemporal Lobar Degeneration
Brain
1 Citation (Scopus)

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. V. & Dickson, D. W., Jan 1 2019, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Microglia
Mutation
Immunohistochemistry
Apraxias
6 Citations (Scopus)

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. V., 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
Astrocytes
Blood Vessels
Brain
Proto-Oncogene Proteins c-sis
Mutation
6 Citations (Scopus)

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. J., Knopman, D. S., Petersen, R. C., Parisi, J. E., Petrucelli, L., Baker, M., Rademakers, R. V., Whitwell, J. L. & Dickson, D. W., Jan 1 2019, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Amygdala
Frontotemporal Lobar Degeneration
Brain
Neuroimaging
Hippocampus

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

Primary Progressive Aphasia
Frontotemporal Dementia
Communication
Frontotemporal Lobar Degeneration
DNA-Binding Proteins
1 Citation (Scopus)

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., Jan 1 2019, In : Alzheimer's and Dementia: Translational Research and Clinical Interventions. 5, p. 338-346 9 p.

Research output: Contribution to journalArticle

Open Access
Microtubule-Associated Proteins
Atrophy
Temporal Lobe
Mutation
Parietal Lobe
2 Citations (Scopus)

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, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Ourselin, S. & 44 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. V., Redaelli, V., Rogaeva, E., Rossi, G., Rossor, M., Scarpini, E., Tang-Wai, D., Tartaglia, C., Thonberg, H., Tiraboschi, P., Verdelho, A. & Warren, J., Mar 1 2019, In : NeuroImage. 188, p. 282-290 9 p.

Research output: Contribution to journalArticle

Spatio-Temporal Analysis
Neurodegenerative Diseases
Atrophy
Thalamus
Frontotemporal Dementia
5 Citations (Scopus)

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., Taner, N., Younkin, S. G., Ross, O. A., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., May 20 2019, In : Genome biology. 20, 1, 97.

Research output: Contribution to journalArticle

Open Access
gene
Technology
Alzheimer disease
Genes
Alzheimer Disease
1 Citation (Scopus)

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. V., Boeve, B. F., Boxer, A. L., Rosen, H. J., Miller, B. L. & Seeley, W. W., Jan 1 2019, In : NeuroImage: Clinical. 22, 101751.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
Mutation
Alzheimer Disease
Primary Progressive Nonfluent Aphasia
Primary Progressive Aphasia
1 Citation (Scopus)

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

LEFFTDS Consortium, Jan 1 2019, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Dementia
tau Proteins
Chromosomes, Human, Pair 9

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

Microtubule-Associated Proteins
Mutation
Diffusion Tensor Imaging
Anisotropy
Disease Progression
2 Citations (Scopus)

Use of the CDR® plus NACC FTLD in mild FTLD: Data from the ARTFL/LEFFTDS consortium

ARTFL/LEFFTDS consortium, Jan 1 2019, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Dementia
Language
Personality
Primary Progressive Nonfluent Aphasia
2018
10 Citations (Scopus)

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. V., 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

Age of Onset
DNA Methylation
HLA-DRB1 Chains
Alleles
Single Nucleotide Polymorphism
15 Citations (Scopus)

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. V., Murray, M. E., Koga, S. & 3 others, Dickson, D. W., Ross, O. A. & Bu, G. D., Dec 1 2018, In : Nature Communications. 9, 1, 4388.

Research output: Contribution to journalArticle

Apolipoprotein E2
Tauopathies
pathology
Pathology
mice
1 Citation (Scopus)

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

Frontotemporal Dementia
Pathology
Frontotemporal Lobar Degeneration
Primary Progressive Aphasia
Mutation
11 Citations (Scopus)

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

Progressive Supranuclear Palsy
Neurodegenerative Diseases
Parkinson Disease
Frontotemporal Dementia
Brain
4 Citations (Scopus)

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. V., 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
Frontotemporal Lobar Degeneration
Heat-Shock Response
Dipeptides
Amyotrophic Lateral Sclerosis
Heat-Shock Proteins
1 Citation (Scopus)

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. V. & van Swieten, J. C., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Alzheimer Disease
Exome
Inborn Genetic Diseases
Endoplasmic Reticulum
Protein Kinases
80 Citations (Scopus)

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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, ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium & NYGC ALS Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study
4 Citations (Scopus)

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

Popuri, K., Dowds, E., Beg, M. F., Balachandar, R., Bhalla, M., Jacova, C., Buller, A., Slack, P., Sengdy, P., Rademakers, R. V., Wittenberg, D., Feldman, H. H., Mackenzie, I. R. & Hsiung, G. Y. R., Jan 1 2018, In : NeuroImage: Clinical. 18, p. 591-598 8 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Mutation
Neuroimaging
Gray Matter
granulin precursor protein
2 Citations (Scopus)

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Pottier, C., Rampersaud, E., Baker, M., Wu, G., Wuu, J., McCauley, J. L., Zuchner, S., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. & Rademakers, R. V., Mar 20 2018, (Accepted/In press) In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-3 3 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Mutation
Inheritance Patterns
Genetic Testing
Frontotemporal Dementia With Motor Neuron Disease
1 Citation (Scopus)

Identification of missing variants by combining multiple analytic pipelines

Ren, Y., Reddy, J. S., Pottier, C., Sarangi, V., Tian, S., Sinnwell, J. P., McDonnell, S. K., Biernacka, J. M., Carrasquillo, M. M., Ross, O. A., Taner, N., Rademakers, R. V., Hudson, M., Mainzer, L. S. & Asmann, Y., Apr 16 2018, In : BMC Bioinformatics. 19, 1, 139.

Research output: Contribution to journalArticle

Sample Size
Pipelines
Gene Frequency
Alzheimer Disease
Sequencing
13 Citations (Scopus)
Microtubule-Associated Proteins
Protein Isoforms
Mutation
Exons
Alzheimer Disease
14 Citations (Scopus)

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

Ebbert, M. T. W., Farrugia, S. L., Sens, J. P., Jansen-West, K., Gendron, T. D., Prudencio, M., McLaughlin, I. J., Bowman, B., Seetin, M., Dejesus-Hernandez, M., Jackson, J., Brown, P. H., Dickson, D. W., Van Blitterswijk, M., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular Neurodegeneration. 13, 1, 46.

Research output: Contribution to journalArticle

Technology
Nucleotides
Nanopores
Plasmids
Clustered Regularly Interspaced Short Palindromic Repeats
2 Citations (Scopus)

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Nicholson, A. M., Zhou, X., Perkerson, R. B., Parsons, T. M., Chew, J., Brooks, M., DeJesus-Hernandez, M., Finch, N. C. A., Matchett, B. J., Kurti, A., Jansen-West, K. R., Perkerson, E., Daughrity, L., Castanedes-Casey, M., Rousseau, L., Phillips, V., Hu, F., Gendron, T. D., Murray, M. E., Dickson, D. W. & 3 others, Fryer, J. D., Petrucelli, L. & Rademakers, R. V., May 31 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Phenotype
Mutation
Dipeptides
9 Citations (Scopus)

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations

Caneus, J., Granic, A., Rademakers, R. V., Dickson, D. W., Coughlan, C. M., Chial, H. J. & Potter, H., Mar 1 2018, In : Molecular Biology of the Cell. 29, 5, p. 575-586 12 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Aneuploidy
Apoptosis
Mutation
Brain
2 Citations (Scopus)

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities

Konno, T., Miura, T., Harriott, A. M., Mezaki, N., Edwards, E. S., Rademakers, R. V., Ross, O. A., Meschia, J. F., Ikeuchi, T. & Wszolek, Z. K., Jan 1 2018, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

Colony-Stimulating Factor Receptors
Macrophage Colony-Stimulating Factor
Neuroglia
White Matter
Stroke
4 Citations (Scopus)

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

Arrant, A. E., Nicholson, A. M., Zhou, X., Rademakers, R. V. & Roberson, E. D., Jun 22 2018, In : Molecular Neurodegeneration. 13, 1, 32.

Research output: Contribution to journalArticle

Haploinsufficiency
Frontotemporal Dementia
Mutation
Brain
Lysosome-Associated Membrane Glycoproteins
10 Citations (Scopus)

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L. H. H., Gendron, T. D., Sias, A. C., Jiskoot, L. C., Russo, S. P., Donker Kaat, L., Papma, J. M., Panman, J. L., van der Ende, E. L., Dopper, E. G., Franzen, S., Graff, C., Boxer, A. L., Rosen, H. J., Sanchez-Valle, R., Galimberti, D., Pijnenburg, Y. A. L., Benussi, L., Ghidoni, R., Borroni, B. & 21 others, Laforce, R., del Campo, M., Teunissen, C. E., van Minkelen, R., Rojas, J. C., Coppola, G., Geschwind, D. H., Rademakers, R. V., Karydas, A. M., Öijerstedt, L., Scarpini, E., Binetti, G., Padovani, A., Cash, D. M., Dick, K. M., Bocchetta, M., Miller, B. L., Rohrer, J. D., Petrucelli, L., van Swieten, J. C. & Lee, S. E., May 1 2018, In : Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

Research output: Contribution to journalArticle

Intermediate Filaments
Light
Frontotemporal Dementia
Atrophy
Biomarkers
46 Citations (Scopus)

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Zhang, Y., Gendron, T. D., Ebbert, M. T. W., O’Raw, A. D., Yue, M., Jansen-West, K., Zhang, X., Prudencio, M., Chew, J., Cook, C., Daughrity, L. M., Tong, J., Song, Y., Pickles, S. R., Castanedes-Casey, M., Kurti, A., Rademakers, R. V., Oskarsson, B., Dickson, D. W., Hu, W. & 3 others, Gitler, A. D., Fryer, J. D. & Petrucelli, L., Jun 25 2018, (Accepted/In press) In : Nature Medicine. p. 1-7 7 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Protein Biosynthesis
Dipeptides
Proteins
Brain