• 16828 Citations
  • 69 Scopus h-Index
1992 …2020

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Article
2020

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

Aβ Puts the Alpha in Synuclein

Cook, C. & Petrucelli, L., Jan 22 2020, In : Neuron. 105, 2, p. 205-206 2 p.

Research output: Contribution to journalArticle

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Neuro–CEB Neuropathology Network, Jul 22 2020, In : Neuron. 107, 2, p. 292-305.e6

Research output: Contribution to journalArticle

1 Scopus citations

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
1 Scopus citations
Open Access
1 Scopus citations

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
1 Scopus citations

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

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Todd, T. W., McEachin, Z. T., Chew, J., Burch, A. R., Jansen-West, K., Tong, J., Yue, M., Song, Y., Castanedes-Casey, M., Kurti, A., Dunmore, J. H., Fryer, J. D., Zhang, Y. J., San Millan, B., Teijeira Bautista, S., Arias, M., Dickson, D., Gendron, T. F., Sobrido, M. J., Disney, M. D. & 3 others, Bassell, G. J., Rossoll, W. & Petrucelli, L., May 5 2020, In : Cell reports. 31, 5, 107616.

Research output: Contribution to journalArticle

Open Access
1 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

Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains

Arakhamia, T., Lee, C. E., Carlomagno, Y., Duong, D. M., Kundinger, S. R., Wang, K., Williams, D., DeTure, M., Dickson, D. W., Cook, C. N., Seyfried, N. T., Petrucelli, L. & Fitzpatrick, A. W. P., Feb 20 2020, In : Cell. 180, 4, p. 633-644.e12

Research output: Contribution to journalArticle

12 Scopus citations

Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency

Frew, J., Baradaran-Heravi, A., Balgi, A. D., Wu, X., Yan, T. D., Arns, S., Shidmoossavee, F. S., Tan, J., Jaquith, J. B., Jansen-West, K. R., Lynn, F. C., Gao, F. B., Petrucelli, L., Feldman, H. H., MacKenzie, I. R., Roberge, M. & Nygaard, H. B., Mar 16 2020, In : Molecular neurodegeneration. 15, 1, 21.

Research output: Contribution to journalArticle

Open Access

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Zhu, Q., Jiang, J., Gendron, T. F., McAlonis-Downes, M., Jiang, L., Taylor, A., Diaz Garcia, S., Ghosh Dastidar, S., Rodriguez, M. J., King, P., Zhang, Y., La Spada, A. R., Xu, H., Petrucelli, L., Ravits, J., Da Cruz, S., Lagier-Tourenne, C. & Cleveland, D. W., May 1 2020, In : Nature Neuroscience. 23, 5, p. 615-624 10 p.

Research output: Contribution to journalArticle

6 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
4 Scopus citations

Utility of FDG-PET in diagnosis of Alzheimer-related TDP-43 proteinopathy

Buciuc, M., Botha, H., Murray, M. E., Schwarz, C. G., Senjem, M. L., Jones, D. T., Knopman, D. S., Boeve, B. F., Petersen, R. C., Jack, C. R., Petrucelli, L., Parisi, J. E., Dickson, D. W., Lowe, V., Whitwell, J. L. & Josephs, K. A., Jul 7 2020, In : Neurology. 95, 1, p. e23-e34

Research output: Contribution to journalArticle

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. V., 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. K., Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 106-117 12 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2019

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

Chew, J., Cook, C., Gendron, T. F., Jansen-West, K., Del Rosso, G., Daughrity, L. M., Castanedes-Casey, M., Kurti, A., Stankowski, J. N., Disney, M. D., Rothstein, J. D., Dickson, D. W., Fryer, J. D., Zhang, Y. J. & Petrucelli, L., Feb 15 2019, In : Molecular neurodegeneration. 14, 1, 9.

Research output: Contribution to journalArticle

14 Scopus citations

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Moore, S., Alsop, E., Lorenzini, I., Starr, A., Rabichow, B. E., Mendez, E., Levy, J. L., Burciu, C., Reiman, R., Chew, J., Belzil, V. V., W. Dickson, D., Robertson, J., Staats, K. A., Ichida, J. K., Petrucelli, L., Van Keuren-Jensen, K. & Sattler, R., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

10 Scopus citations
Open Access

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

Goodman, L. D., Prudencio, M., Srinivasan, A. R., Rifai, O. M., Lee, V. M. Y., Petrucelli, L. & Bonini, N. M., Apr 25 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
4 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

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

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

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

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

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

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Yamada, S. B., Gendron, T. F., Niccoli, T., Genuth, N. R., Grosely, R., Shi, Y., Glaria, I., Kramer, N. J., Nakayama, L., Fang, S., Dinger, T. J. I., Thoeng, A., Rocha, G., Barna, M., Puglisi, J. D., Partridge, L., Ichida, J. K., Isaacs, A. M., Petrucelli, L. & Gitler, A. D., Sep 1 2019, In : Nature Neuroscience. 22, 9, p. 1383-1388 6 p.

Research output: Contribution to journalArticle

13 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

Tau exhibits unique seeding properties in globular glial tauopathy

Chung, D. E. C., Carlomagno, Y., Cook, C. N., Jansen-West, K., Daughrity, L., Lewis-Tuffin, L. J., Castanedes-Casey, M., DeTure, M., Dickson, D. W. & Petrucelli, L., Mar 7 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

The Hairpin Form of r(G 4 C 2 ) exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules

Wang, Z. F., Ursu, A., Childs-Disney, J. L., Guertler, R., Yang, W. Y., Bernat, V., Rzuczek, S. G., Fuerst, R., Zhang, Y., Gendron, T. D., Yildirim, I., Dwyer, B. G., Rice, J. E., Petrucelli, L. & Disney, M. D., Feb 21 2019, In : Cell Chemical Biology. 26, 2, p. 179-190.e12

Research output: Contribution to journalArticle

19 Scopus citations
18 Scopus citations

TIA1 regulates the generation and response to toxic tau oligomers

Jiang, L., Ash, P. E. A., Maziuk, B. F., Ballance, H. I., Boudeau, S., Abdullatif, A. A., Orlando, M., Petrucelli, L., Ikezu, T. & Wolozin, B., Feb 11 2019, In : Acta neuropathologica. 137, 2, p. 259-277 19 p.

Research output: Contribution to journalArticle

14 Scopus citations

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

Goodman, L. D., Prudencio, M., Kramer, N. J., Martinez-Ramirez, L. F., Srinivasan, A. R., Lan, M., Parisi, M. J., Zhu, Y., Chew, J., Cook, C. N., Berson, A., Gitler, A. D., Petrucelli, L. & Bonini, N. M., Jun 1 2019, In : Nature Neuroscience. 22, 6, p. 863-874 12 p.

Research output: Contribution to journalArticle

8 Scopus citations
2018

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

Association of Apolipoprotein e ϵ4 with Transactive Response DNA-Binding Protein 43

Wennberg, A. M., Tosakulwong, N., Lesnick, T. G., Murray, M. E., Whitwell, J. L., Liesinger, A. M., Petrucelli, L., Boeve, B. F., Parisi, J. E., Knopman, D. S., Petersen, R. C., Dickson, D. W. & Josephs, K. A., Jan 1 2018, (Accepted/In press) In : JAMA Neurology. p. E1-E8

Research output: Contribution to journalArticle

19 Scopus citations

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Swinnen, B., Bento-Abreu, A., Gendron, T. F., Boeynaems, S., Bogaert, E., Nuyts, R., Timmers, M., Scheveneels, W., Hersmus, N., Wang, J., Mizielinska, S., Isaacs, A. M., Petrucelli, L., Lemmens, R., Van Damme, P., Van Den Bosch, L. & Robberecht, W., Mar 1 2018, In : Acta neuropathologica. 135, 3, p. 427-443 17 p.

Research output: Contribution to journalArticle

25 Scopus citations

CRISPR expands insight into the mechanisms of ALS and FTD

Pickles, S. & Petrucelli, L., Apr 25 2018, (Accepted/In press) In : Nature Reviews Neurology. p. 1-2 2 p.

Research output: Contribution to journalArticle

1 Scopus citations

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Tabet, R., Schaeffer, L., Freyermuth, F., Jambeau, M., Workman, M., Lee, C. Z., Lin, C. C., Jiang, J., Jansen-West, K., Abou-Hamdan, H., Désaubry, L., Gendron, T. D., Petrucelli, L., Martin, F. & Lagier-Tourenne, C., Dec 1 2018, In : Nature Communications. 9, 1, 152.

Research output: Contribution to journalArticle

44 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, p. 55 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Disease mechanisms of c9orf72 repeat expansions

Gendron, T. F. & Petrucelli, L., Apr 2018, In : Cold Spring Harbor Perspectives in Medicine. 8, 4, a024224.

Research output: Contribution to journalArticle

24 Scopus citations

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. F., 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., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular neurodegeneration. 13, 1, 46.

Research output: Contribution to journalArticle

21 Scopus citations

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. F., Murray, M. E., Dickson, D. W. & 3 others, Fryer, J. D., Petrucelli, L. & Rademakers, R., May 31 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau

Kang, S., Ebbert, M. T. W., Baker, K. E., Cook, C., Wang, X., Sens, J. P., Kocher, J-P., Petrucelli, L. & Fryer, J. D., Jan 1 2018, In : Journal of Experimental Medicine. 215, 9, p. 2235-2245 11 p.

Research output: Contribution to journalArticle

31 Scopus citations

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

Meeter, L. H. H., Gendron, T. F., 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., 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 2018, In : Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

Research output: Contribution to journalArticle

15 Scopus citations

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

Zhang, Y. J., Gendron, T. F., Ebbert, M. T. W., O’Raw, A. D., Yue, M., Jansen-West, K., Zhang, X., Prudencio, M., Chew, J., Cook, C. N., Daughrity, L. M., Tong, J., Song, Y., Pickles, S. R., Castanedes-Casey, M., Kurti, A., Rademakers, R., Oskarsson, B., Dickson, D. W., Hu, W. & 3 others, Gitler, A. D., Fryer, J. D. & Petrucelli, L., Aug 1 2018, In : Nature Medicine. 24, 8, p. 1136-1142 7 p.

Research output: Contribution to journalArticle

59 Scopus citations
Open Access
23 Scopus citations

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.

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25 Scopus citations

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

Sanchez-Contreras, M. Y., Kouri, N., Cook, C. N., Serie, D. J., Heckman, M. G., Finch, N. A., Caselli, R. J., Uitti, R. J., Wszolek, Z. K., Graff-Radford, N., Petrucelli, L., Wang, L. S., Schellenberg, G. D., Dickson, D. W., Rademakers, R. & Ross, O. A., Jul 9 2018, In : Molecular neurodegeneration. 13, 1, 37.

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8 Scopus citations

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease

Eftekharzadeh, B., Daigle, J. G., Kapinos, L. E., Coyne, A., Schiantarelli, J., Carlomagno, Y., Cook, C., Miller, S. J., Dujardin, S., Amaral, A. S., Grima, J. C., Bennett, R. E., Tepper, K., Deture, M., Vanderburgh, C. R., Corjuc, B. T., DeVos, S. L., Gonzalez, J. A., Chew, J., Vidensky, S. & 10 others, Gage, F. H., Mertens, J., Troncoso, J., Mandelkow, E., Salvatella, X., Lim, R. Y. H., Petrucelli, L., Wegmann, S., Rothstein, J. D. & Hyman, B. T., Sep 5 2018, In : Neuron. 99, 5, p. 925-940.e7

Research output: Contribution to journalArticle

64 Scopus citations