Eileen H Bigio

  • 22385 Citations
1989 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

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
8 Scopus citations

APOE is a correlate of phenotypic heterogeneity in Alzheimer disease in a national cohort

Weintraub, S., Teylan, M., Rader, B., Chan, K. C. G., Bollenbeck, M., Kukull, W. A., Coventry, C., Rogalski, E., Bigio, E. & Mesulam, M. M., Feb 11 2020, In : Neurology. 94, 6, p. e607-e612

Research output: Contribution to journalArticle

2 Scopus citations

Calbindin-D28K, parvalbumin, and calretinin in young and aged human locus coeruleus

Lamerand, S., Shahidehpour, R., Ayala, I., Gefen, T., Mesulam, M. M., Bigio, E. & Geula, C., Oct 2020, In : Neurobiology of Aging. 94, p. 243-249 7 p.

Research output: Contribution to journalArticle

Distribution of TDP-43 Pathology in Hippocampal Synaptic Relays Suggests Transsynaptic Propagation in Frontotemporal Lobar Degeneration

Jamshidi, P., Kim, G., Shahidehpour, R. K., Bolbolan, K., Gefen, T., Bigio, E. H., Mesulam, M. M. & Geula, C., Jun 1 2020, In : Journal of neuropathology and experimental neurology. 79, 6, p. 585-591 7 p.

Research output: Contribution to journalArticle

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

The Alzheimer’s Disease Genetics Consortium, Dec 1 2020, In : Nature communications. 11, 1, 667.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations

Neuropathologic basis of in vivo cortical atrophy in the aphasic variant of Alzheimer's disease

Ohm, D. T., Fought, A. J., Rademaker, A., Kim, G., Sridhar, J., Coventry, C., Gefen, T., Weintraub, S., Bigio, E., Mesulam, M. M., Rogalski, E. & Geula, C., Mar 1 2020, In : Brain Pathology. 30, 2, p. 332-344 13 p.

Research output: Contribution to journalArticle

1 Scopus citations

Speech and Language Presentations of FTLD-TDP Type B Neuropathology

Lee, D. J., Bigio, E. H., Rogalski, E. J. & Mesulam, M. M., Mar 1 2020, In : Journal of neuropathology and experimental neurology. 79, 3, p. 277-283 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Spinocerebellar Ataxia Type 3: A Case Report and Literature Review

McCord, M. R., Bigio, E. H., Kam, K. L., Fischer, V., Obeidin, F., White, C. L., Brat, D. J., Muller, W. A. & Mao, Q., Jun 1 2020, In : Journal of neuropathology and experimental neurology. 79, 6, p. 641-646 6 p.

Research output: Contribution to journalArticle

2019

Activated microglia in cortical white matter across cognitive aging trajectories

Gefen, T., Kim, G., Bolbolan, K., Geoly, A., Ohm, D., Oboudiyat, C., Shahidehpour, R., Rademaker, A., Weintraub, S., Bigio, E. H., Marsel Mesulam, M., Rogalski, E. & Geula, C., 2019, In : Frontiers in Aging Neuroscience. 11, MAY, 94.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A highly sensitive sandwich ELISA to detect CSF progranulin: A potential biomarker for CNS disorders

Li, Y., Wang, D., Li, Y., Zhu, J., Zhao, J., Deng, Y., Rogalski, E. J., Bigio, E. H., Rademaker, A. W., Xia, H. & Mao, Q., Jan 1 2019, In : Journal of neuropathology and experimental neurology. 78, 5, p. 406-415 10 p.

Research output: Contribution to journalArticle

1 Scopus citations
1 Scopus citations

Clinical and cortical decline in the aphasic variant of Alzheimer's disease

Rogalski, E. J., Sridhar, J., Martersteck, A., Rader, B., Cobia, D. J., Arora, A. K., Fought, A. J., Bigio, E. H., Weintraub, S., Mesulam, M. M. & Rademaker, A., Apr 2019, In : Alzheimer's and Dementia. 15, 4, p. 543-552 10 p.

Research output: Contribution to journalArticle

Cognitive trajectories and spectrum of neuropathology in SuperAgers: The first 10 cases

Rogalski, E., Gefen, T., Mao, Q., Connelly, M., Weintraub, S., Geula, C., Bigio, E. H. & Mesulam, M. M., May 2019, In : Hippocampus. 29, 5, p. 458-467 10 p.

Research output: Contribution to journalArticle

11 Scopus citations

Cortical cholinergic denervation in primary progressive aphasia with Alzheimer pathology

Mesulam, M. M., Lalehzari, N., Rahmani, F., Ohm, D., Shahidehpour, R., Kim, G., Gefen, T., Weintraub, S., Bigio, E. & Geula, C., Apr 2 2019, In : Neurology. 92, 14, p. E1580-E1588

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

1 Scopus citations

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

205 Scopus citations

Genetic screen in a large series of patients with primary progressive aphasia

Ramos, E. M., Dokuru, D. R., Van Berlo, V., Wojta, K., Wang, Q., Huang, A. Y., Miller, Z. A., Karydas, A. M., Bigio, E. H., Rogalski, E., Weintraub, S., Rader, B., Miller, B. L., Gorno-Tempini, M. L., Mesulam, M. M. & Coppola, G., Apr 2019, In : Alzheimer's and Dementia. 15, 4, p. 553-560 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

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

16 Scopus citations

MCP1-CCR2 and neuroinflammation in the ALS motor cortex with TDP-43 pathology

Jara, J. H., Gautam, M., Kocak, N., Xie, E. F., Mao, Q., Bigio, E. H. & Özdinler, P. H., Oct 30 2019, In : Journal of neuroinflammation. 16, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Mitochondria, ER, and nuclear membrane defects reveal early mechanisms for upper motor neuron vulnerability with respect to TDP-43 pathology

Gautam, M., Jara, J. H., Kocak, N., Rylaarsdam, L. E., Kim, K. D., Bigio, E. H. & Hande Özdinler, P., Jan 21 2019, In : Acta Neuropathologica. 137, 1, p. 47-69 23 p.

Research output: Contribution to journalArticle

12 Scopus citations

Morphology and Distribution of TDP-43 Pre-inclusions in Primary Progressive Aphasia

Kim, G., Bolbolan, K., Shahidehpour, R., Jamshidi, P., Gefen, T., Ayala, I. A., Weintraub, S., Bigio, E. H., Mesulam, M. M. & Geula, C., Mar 1 2019, In : Journal of neuropathology and experimental neurology. 78, 3, p. 229-237 9 p.

Research output: Contribution to journalArticle

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., 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

3 Scopus citations
4 Scopus citations

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

Wang, P., Deng, J., Dong, J., Liu, J., Bigio, E. H., Mesulam, M., Wang, T., Sun, L., Wang, L., Lee, A. Y. L., McGee, W. A., Chen, X., Fushimi, K., Zhu, L. & Wu, J. Y., May 2019, In : PLoS genetics. 15, 5, e1007947.

Research output: Contribution to journalArticle

Open Access
17 Scopus citations

Word comprehension in temporal cortex and Wernicke area: A PPA perspective

Mesulam, M. M., Rader, B. M., Sridhar, J., Nelson, M. J., Hyun, J., Rademaker, A., Geula, C., Bigio, E. H., Thompson, C. K., Gefen, T. D., Weintraub, S. & Rogalski, E. J., Jan 15 2019, In : Neurology. 92, 3, p. E224-E233

Research output: Contribution to journalArticle

4 Scopus citations
2018

Associations of MAP2K3 gene variants with superior memory in SuperAgers

for the Alzheimer's Disease Neuroimaging Initiative, May 29 2018, In : Frontiers in Aging Neuroscience. 10, MAY, 155.

Research output: Contribution to journalArticle

5 Scopus citations

Asymmetric TDP pathology in primary progressive aphasia with right hemisphere language dominance

Kim, G., Vahedi, S., Gefen, T., Weintraub, S., Bigio, E. H., Mesulam, M. M. & Geula, C., Jan 30 2018, In : Neurology. 90, 5, p. e396-e403

Research output: Contribution to journalArticle

5 Scopus citations
4 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., 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

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

Research output: Contribution to journalArticle

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS

Dervishi, I., Gozutok, O., Murnan, K., Gautam, M., Heller, D., Bigio, E. & Ozdinler, P. H., Dec 1 2018, In : Scientific reports. 8, 1, 14732.

Research output: Contribution to journalArticle

4 Scopus citations

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA Neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’S Disease Neuroimaging Initiative (Adni) & The Alzheimer Disease Genetics Consortium (Adgc), Dec 1 2018, In : Acta Neuropathologica. 136, 6, p. 857-872 16 p.

Research output: Contribution to journalArticle

21 Scopus citations

The revised national Alzheimer's coordinating center's neuropathology form-available data and new analyses

Besser, L. M., Kukull, W. A., Teylan, M. A., Bigio, E. H., Cairns, N. J., Kofler, J. K., Montine, T. J., Schneider, J. A. & Nelson, P. T., 2018, In : Journal of neuropathology and experimental neurology. 77, 8, p. 717-726 10 p.

Research output: Contribution to journalArticle

18 Scopus citations
12 Scopus citations

Von Economo neurons of the anterior cingulate across the lifespan and in Alzheimer's disease

Gefen, T., Papastefan, S. T., Rezvanian, A., Bigio, E. H., Weintraub, S., Rogalski, E., Mesulam, M. M. & Geula, C., Feb 2018, In : Cortex. 99, p. 69-77 9 p.

Research output: Contribution to journalArticle

12 Scopus citations
2017

A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction

Lopez, A., Lee, S. E., Wojta, K., Ramos, E. M., Klein, E., Chen, J., Boxer, A. L., Gorno-Tempini, M. L., Geschwind, D. H., Schlotawa, L., Ogryzko, N. V., Bigio, E. H., Rogalski, E., Weintraub, S., Mesulam, M. M., Fleming, A., Coppola, G., Miller, B. L., Rubinsztein, D. C., Agosta, F. & 31 others, Alberici, A., Babacan-Yildiz, G., Bennett, D. A., Bilguvar, K., Borroni, B., Caglayan, A. O., Combarros, O., Comi, G., Cortés, E. P., Ferrer, I., Genç, Ş., Gunel, M., Gylys, K. H., Indakoetxea, B., Karageorgiou, C. E., Karydas, A., Kilic, U., De Munain, A. L., Magnani, G., Mahley, R. W., Boneschi, F. M., Martinez, J., Mazzeo, S., Moreno, F., Padovani, A., Papatriantafyllou, J., Rogaeva, E., Sanchez-Juan, P., Santangelo, R., Small, G. W. & Tauopathy Genetics Consortium, Apr 1 2017, In : Brain. 140, 4, p. 1128-1146 19 p.

Research output: Contribution to journalArticle

35 Scopus citations

Apical dendrite degeneration, a novel cellular pathology for Betz cells in ALS

Genç, B., Jara, J. H., Lagrimas, A. K. B., Pytel, P., Roos, R. P., Mesulam, M-M., Geula, C., Bigio, E. H. & Ozdinler, P. H., Feb 6 2017, In : Scientific reports. 7, 41765.

Research output: Contribution to journalArticle

24 Scopus citations

Cerebrospinal fluid markers detect Alzheimer's disease in nonamnestic dementia

Oboudiyat, C., Gefen, T., Varelas, E., Weintraub, S., Rogalski, E., Bigio, E. H. & Mesulam, M. M., May 2017, In : Alzheimer's and Dementia. 13, 5, p. 598-601 4 p.

Research output: Contribution to journalArticle

4 Scopus citations

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Hirsch-Reinshagen, V., Pottier, C., Nicholson, A. M., Baker, M., Hsiung, G. Y. R., Krieger, C., Sengdy, P., Boylan, K. B., Dickson, D. W., Mesulam, M., Weintraub, S., Bigio, E., Zinman, L., Keith, J., Rogaeva, E., Zivkovic, S. A., Lacomis, D., Taylor, J. P., Rademakers, R. & Mackenzie, I. R. A., Dec 7 2017, In : Acta Neuropathologica Communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

13 Scopus citations

Disease and region specificity of granulin immunopositivities in Alzheimer disease and frontotemporal lobar degeneration

Mao, Q., Wang, D., Li, Y., Kohler, M., Wilson, J., Parton, Z., Shmaltsuyeva, B., Gursel, D., Rademakers, R., Weintraub, S., Mesulam, M. M., Xia, H. & Bigio, E. H., 2017, In : Journal of neuropathology and experimental neurology. 76, 11, p. 957-968 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Evidence for an early innate immune response in the motor cortex of ALS

Jara, J. H., Genç, B., Stanford, M. J., Pytel, P., Roos, R. P., Weintraub, S., Mesulam, M. M., Bigio, E. H., Miller, R. J. & Özdinler, P. H., Jun 26 2017, In : Journal of neuroinflammation. 14, 1, 129.

Research output: Contribution to journalArticle

10 Scopus citations

Heat shock-induced phosphorylation of TAR DNA-binding protein 43 (TDP-43) by MAPK/ERK kinase regulates TDP-43 function

Li, W., Reeb, A. N., Lin, B., Subramanian, P., Fey, E. E., Knoverek, C. R., French, R. L., Bigio, E. H. & Ayala, Y. M., Mar 24 2017, In : Journal of Biological Chemistry. 292, 12, p. 5089-5100 12 p.

Research output: Contribution to journalArticle

18 Scopus citations

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Ward, M. E., Chen, R., Huang, H. Y., Ludwig, C., Telpoukhovskaia, M., Taubes, A., Boudin, H., Minami, S. S., Reichert, M., Albrecht, P., Gelfand, J. M., Cruz-Herranz, A., Cordano, C., Alavi, M. V., Leslie, S., Seeley, W. W., Miller, B. L., Bigio, E., Mesulam, M. M., Bogyo, M. S. & 6 others, Mackenzie, I. R., Staropoli, J. F., Cotman, S. L., Huang, E. J., Gan, L. & Green, A. J., Apr 12 2017, In : Science translational medicine. 9, 385, eaah5642.

Research output: Contribution to journalArticle

55 Scopus citations

Multisite assessment of aging-related tau astrogliopathy (ARTAG)

Kovacs, G. G., Xie, S. X., Lee, E. B., Robinson, J. L., Caswell, C., Irwin, D. J., Toledo, J. B., Johnson, V. E., Smith, D. H., Alafuzoff, I., Attems, J., Bencze, J., Bieniek, K. F., Bigio, E. H., Bodi, I., Budka, H., Dickson, D. W., Dugger, B. N., Duyckaerts, C., Ferrer, I. & 42 others, Forrest, S. L., Gelpi, E., Gentleman, S. M., Giaccone, G., Grinberg, L. T., Halliday, G. M., Hatanpaa, K. J., Hof, P. R., Hofer, M., Hortobágyi, T., Ironside, J. W., King, A., Kofler, J., Kövari, E., Kril, J. J., Love, S., Mackenzie, I. R., Mao, Q., Matej, R., McLean, C., Munoz, D. G., Murray, M. E., Neltner, J., Nelson, P. T., Ritchie, D., Rodriguez, R. D., Rohan, Z., Rozemuller, A., Sakai, K., Schultz, C., Seilhean, D., Smith, V., Tacik, P., Takahashi, H., Takao, M., Thal, D. R., Weis, S., Wharton, S. B., White, C. L., Woulfe, J. M., Yamada, M. & Trojanowski, J. Q., 2017, In : Journal of neuropathology and experimental neurology. 76, 7, p. 605-619 15 p.

Research output: Contribution to journalArticle

16 Scopus citations

Neuroendocrine carcinoma of the pineal parenchyma. The first reported case

Hakar, M., Chandler, J. P., Bigio, E. H. & Mao, Q., Jan 1 2017, In : Journal of Clinical Neuroscience. 35, p. 68-70 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 429 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Jr, W. T. L., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Morris, J. C., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Tsolaki, M., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Goate, A. M., Uitterlinden, A. G., Holmes, C., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Holmans, P. A., Pericak-Vance, M. A., Amouyel, P., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In : Nature Genetics. 49, 9, p. 1373-1384 12 p.

Research output: Contribution to journalArticle

252 Scopus citations

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C., Annu, K., Baker, M., Perkerson, R. B., Kurti, A., Matchett, B. J., Mittag, T., Temirov, J., Hsiung, G. Y. R., Krieger, C., Murray, M. E., Kato, M., Fryer, J. D., Petrucelli, L., Zinman, L. & 22 others, Weintraub, S., Mesulam, M., Keith, J., Zivkovic, S. A., Hirsch-Reinshagen, V., Roos, R. P., Züchner, S., Graff-Radford, N. R., Petersen, R. C., Caselli, R. J., Wszolek, Z. K., Finger, E., Lippa, C., Lacomis, D., Stewart, H., Dickson, D. W., Kim, H. J., Rogaeva, E., Bigio, E., Boylan, K. B., Taylor, J. P. & Rademakers, R., Aug 16 2017, In : Neuron. 95, 4, p. 808-816.e9

Research output: Contribution to journalArticle

193 Scopus citations