The DOI matches its Crossref record; 63 of the 63 references it cites were found in a registry or an index.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
Open accessAbstract
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes of FTLD-TDP; however, the genetic etiology in the majority of FTLD-TDP remains unexplained. In this study, we performed whole-genome sequencing in 104 pathologically confirmed FTLD-TDP patients from the Mayo Clinic brain bank negative for C9ORF72 and GRN mutations and report on the contribution of rare single nucleotide and copy number variants in 21 known neurodegenerative disease genes. Interestingly, we identified 5 patients (4.8 %) with variants in optineurin (OPTN) and TANK-binding kinase 1 (TBK1) that are predicted to be highly pathogenic, including two double mutants. Case A was a compound heterozygote for mutations in OPTN, carrying the p.Q235* nonsense and p.A481V missense mutation in trans, while case B carried a deletion of OPTN exons 13-15 (p.Gly538Glufs*27) and a loss-of-function mutation (p.Arg117*) in TBK1. Cases C-E carried heterozygous missense mutations in TBK1, including the p.Glu696Lys mutation which was previously reported in two amyotrophic lateral sclerosis (ALS) patients and is located in the OPTN binding domain. Quantitative mRNA expression and protein analysis in cerebellar tissue showed a striking reduction of OPTN and/or TBK1 expression in 4 out of 5 patients supporting pathogenicity in these specific patients and suggesting a loss-of-function disease mechanism. Importantly, neuropathologic examination showed FTLD-TDP type A in the absence of motor neuron disease in 3 pathogenic mutation carriers. In conclusion, we highlight TBK1 as an important cause of pure FTLD-TDP, identify the first OPTN mutations in FTLD-TDP, and suggest a potential oligogenic basis for at least a subset of FTLD-TDP patients. Our data further add to the growing body of evidence linking ALS and FTD and suggest a key role for the OPTN/TBK1 pathway in these diseases.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Supporting the link between ALS and FTD, TBK1 mutations have also been identified in FTD patients, and in fact occur more frequently in patients with combined ALS-FTD than in those with ALS alone [207–209].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [209]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
NIH Image to ImageJ: 25 years of image analysis
Schneider, C. A., Rasband, W. S., & Eliceiri, K. W. (2012) · Nature Methods · doi:10.1038/nmeth.2089 · Cited by 64,638
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
Li, Y., Jiang, Q. L., Cao, G.-F., Yao, J., & Yan, B. (2015) · Cellular Physiology and Biochemistry · doi:10.1159/000373980 · Cited by 16,351
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · cited 13×
“The most striking evidence, however, came from the identification of repeat expansions in C9ORF72 as a common cause of FTD, ALS and mixed FTD-ALS patients, which firmly established a genetic link between these disorders [14, 45].”
BackgroundInfluentialSelf-citationA Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498
Self-citationArai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Vance, C. A., Rogelj, B., Hortobágyi, T., Vos, K. J. D., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B. N., Ruddy, D., Wright, P. D., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,625
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J. M., Kasarskis, E. J., Munsat, T. L., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,624
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058
Self-citationCruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., et al. (2006) · Nature · doi:10.1038/nature05017 · Cited by 1,512
Self-citationPhosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth
Wild, P., Farhan, H., McEwan, D. G., Wagner, S., Rogov, V. V., Brady, N. R., Richter, B., Korac, J., Waidmann, O., Choudhary, C., et al. (2011) · Science · doi:10.1126/science.1205405 · Cited by 1,298
Mutations of optineurin in amyotrophic lateral sclerosis
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., et al. (2010) · Nature · doi:10.1038/nature08971 · Cited by 1,265
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212
Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70043-1 · Cited by 1,210
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Self-citationExome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966
Wong, Y. C., & Holzbaur, E. L. F. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405752111 · Cited by 812
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4000 · Cited by 786
A new subtype of frontotemporal lobar degeneration with FUS pathology
Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., & Mackenzie, I. R. A. (2009) · Brain · doi:10.1093/brain/awp214 · Cited by 722
Self-citationThe overlap of amyotrophic lateral sclerosis and frontotemporal dementia
Lomen, C. E., Anderson, T. T., & Miller, B. L. (2002) · Neurology · doi:10.1212/wnl.59.7.1077 · Cited by 699
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D. M., Baron, D. M., et al. (2012) · Nature · doi:10.1038/nature11280 · Cited by 624
Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.1027 · Cited by 571
Self-citationWhole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544
Al-Sarraj, S., King, A., Troakes, C., Smith, B., Maekawa, S., Bodi, I., Rogelj, B., Al-Chalabi, A., Hortobágyi, T., & Shaw, C. E. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0911-2 · Cited by 475
Advances in understanding the molecular basis of frontotemporal dementia
Rademakers, R., Neumann, M., & Mackenzie, I. R. (2012) · Nature Reviews Neurology · doi:10.1038/nrneurol.2012.117 · Cited by 432
Self-citationEvidence for an oligogenic basis of amyotrophic lateral sclerosis
van Blitterswijk, M., van Es, M. A., Hennekam, E. A. M., Dooijes, D., van Rheenen, W., Medic, J., Bourque, P. R., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds199 · Cited by 355
Mackenzie, I. R., Baborie, A., Pickering-Brown, S. M., du Plessis, D., Jaros, E., Perry, R. H., Neary, D., Snowden, J. S., & Mann, D. M. A. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0138-9 · Cited by 322
Sampathu, D. M., Neumann, M., Kwong, L. K., Chou, T. T. T., Micsenyi, M. C., Truax, A. C., BRUCE, J. S., Grossman, M., Trojanowski, J. Q., & Lee, V. M. ‐. (2006) · American Journal Of Pathology · doi:10.2353/ajpath.2006.060438 · Cited by 321
The genetics and neuropathology of frontotemporal lobar degeneration
Sieben, A., Van Langenhove, T., Engelborghs, S., Martin, J.-J., Boon, P., Cras, P., De Deyn, P.-P., Santens, P., Van Broeckhoven, C., & Cruts, M. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1029-x · Cited by 280
The Genome of the Netherlands: design, and project goals
Boomsma, D. I., Wijmenga, C., Slagboom, P. E., Swertz, M. A., Karssen, L. C., Abdellaoui, A., Ye, K., Guryev, V., Vermaat, M., van Dijk, F., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.118 · Cited by 249
Convergence of the NF-κB and IRF pathways in the regulation of the innate antiviral response
Hiscott, J. B. (2007) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2007.06.002 · Cited by 239
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
Fingert, J. H., Robin, A. L., Stone, J. L., Roos, B. R., Davis, L. K., Scheetz, T. E., Bennett, S. R., Wassink, T. H., Kwon, Y. H., Alward, W. L. M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr123 · Cited by 228
Structure and Ubiquitination-Dependent Activation of TANK-Binding Kinase 1
Tu, D., Zhu, Z., Zhou, A. Y., Yun, C., Lee, K., Toms, A. V., Li, Y., Dunn, G. P., Chan, E. M., Thai, T. C., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.01.033 · Cited by 222
Cady, J., Allred, P., Bali, T., Pestronk, A., Goate, A., Miller, T. M., Mitra, R. D., Ravits, J., Harms, M. B., & Baloh, R. H. (2014) · Annals of Neurology · doi:10.1002/ana.24306 · Cited by 220
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia
van Blitterswijk, M., DeJesus‐Hernandez, M., & Rademakers, R. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835a3efb · Cited by 211
Self-citationMukherjee, O., Pástor, P., Cairns, N. J., Chakraverty, S., Kauwe, J. S. K., Shears, S., Behrens, M. I., Budde, J., Hinrichs, A. L., Norton, J. B., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20963 · Cited by 187
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Liu, E. Y., Russ, J., Wu, K., Neal, D., Suh, E., McNally, A. G., Irwin, D. J., Van Deerlin, V. M., & Lee, E. B. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1286-y · Cited by 180
Morton, S., Hesson, L. B., Peggie, M. W., & Cohen, P. (2008) · FEBS Letters · doi:10.1016/j.febslet.2008.02.047 · Cited by 180
Gleason, C. E., Ordureau, A., Gourlay, R., Arthur, J. S. C., & Cohen, P. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.267567 · Cited by 177
Tau gene mutations: dissecting the pathogenesis of FTDP-17
Ingram, E., & Spillantini, M. G. (2002) · Trends in Molecular Medicine · doi:10.1016/s1471-4914(02)02440-1 · Cited by 177
Chiò, A., Calvo, A., Mazzini, L., Cantello, R. M., Mora, G., Moglia, C., Corrado, L., D’Alfonso, S., Majounie, E., Renton, A. E., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182735d36 · Cited by 171
Leverenz, J. B., Yu, C. E., Montine, T. J., Steinbart, E., Bekris, L. M., Zabetian, C., Kwong, L. K., Lee, V. M.-Y., Schellenberg, G. D., & Bird, T. D. (2007) · Brain · doi:10.1093/brain/awm069 · Cited by 129
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
Russ, J., Liu, E. Y., Wu, K., Neal, D., Suh, E. R., Irwin, D. J., McMillan, C. T., Harms, M. B., Cairns, N. J., Wood, E. M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1365-0 · Cited by 127
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
Bo, R. D., Tiloca, C., Pensato, V., Corrado, L., Ratti, A., Ticozzi, N., Corti, S. P., Castellotti, B., Mazzini, L., Sorarú, G., et al. (2011) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2011.242313 · Cited by 104
Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS
Callister, J. B., & Pickering-Brown, S. M. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.06.001 · Cited by 103
Graff‐Radford, N. R., & Woodruff, B. K. (2007) · Seminars in Neurology · doi:10.1055/s-2006-956755 · Cited by 102
Self-citationArai, T., Nonaka, T., Hasegawa, M., Akiyama, H., Yoshida, M., Hashizume, Y., Tsuchiya, K., Oda, T., & Ikeda, K. (2003) · Neuroscience Letters · doi:10.1016/s0304-3940(03)00216-7 · Cited by 92
Screening of OPTN in French familial amyotrophic lateral sclerosis
Millecamps, S., Boillée, S., Chabrol, E., Camu, W., Cazeneuve, C., Salachas, F., Pradat, P., Danel-Brunaud, V., Vandenberghe, N., Corcia, P., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.11.005 · Cited by 87
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
van Blitterswijk, M., Baker, M., DeJesus‐Hernandez, M., Ghidoni, R., Benussi, L., Finger, E. C., Hsiung, G. R., Kelley, B. J., Murray, M. E., Rutherford, N. J., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a8250c · Cited by 83
Self-citationMotor neuron disease and frontotemporal dementia: sometimes related, sometimes not
Hardy, J., & Rogaeva, E. A. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2013.11.006 · Cited by 83
FUS and TDP43 genetic variability in FTD and CBS
Huey, E. D., Ferrari, R., Moreno, J. H., Jensen, C., Morris, C. M., Potocnik, F., Kalaria, R. N., Tierney, M., Wassermann, E. M., Hardy, J., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.08.004 · Cited by 82 · cited 4×
“Moreover, TDP-43, fused in sarcoma (FUS) and p62 inclusions are found in post-mortem tissues of both ALS and FTD cases [1–3, 28, 41, 42, 57].”
BackgroundInfluentialC9orf72 promoter hypermethylation is neuroprotective
McMillan, C. T., Russ, J., Wood, E. M., Irwin, D. J., Grossman, M., McCluskey, L. F., Elman, L. B., Deerlin, V. M. V., & Lee, E. B. (2015) · Neurology · doi:10.1212/wnl.0000000000001495 · Cited by 71
ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations
Chiò, A., Restagno, G., Brunetti, M., Ossola, I., Calvo, A., Canosa, A., Moglia, C., Floris, G., Tacconi, P., Marrosu, F., et al. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-302219 · Cited by 61
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis
Belzil, V., Daoud, H., Desjarlais, A., Bouchard, J.-P., Dupré, N., Camu, W., Dion, P. A., & Rouleau, G. A. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.10.001 · Cited by 53
Weishaupt, J. H., Waibel, S., Birve, A., Volk, A. E., Mayer, B., Meyer, T., Ludolph, A. C., & Andersen, P. M. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.09.007 · Cited by 52
A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
Tümer, Z., Bertelsen, B., Gredal, O., Magyari, M., Nielsen, K. C., LuCamp, Grønskov, K., & Brøndum‐Nielsen, K. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.07.001 · Cited by 51
Luigetti, M., Lattante, S., Zollino, M., Conte, A., Marangi, G., Grande, A. D., & Sabatelli, M. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.04.004 · Cited by 39
Autophagy and innate immunity ally against bacterial invasion
Galluzzi, L., Kepp, O., & Kroemer, G. (2011) · The EMBO Journal · doi:10.1038/emboj.2011.244 · Cited by 32
van Blitterswijk, M., Baker, M., Bieniek, K. F., Knopman, D. S., Josephs, K. A., Boeve, B. F., Caselli, R. J., Wszołek, Z. K., Petersen, R. C., Graff‐Radford, N. R., et al. (2013) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2013.787630 · Cited by 30
Self-citationMutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis
Fifita, J. A., Williams, K. L., Yang, S., Nicholson, G. A., & Blair, I. P. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.09.023 · Cited by 21
Phenotypes in Swiss Patients with Familial ALS Carrying TARDBP Mutations
Czell, D., Andersen, P. M., Morita, M., Neuwirth, C., Perren, F., & Weber, M. (2013) · Neurodegenerative Diseases · doi:10.1159/000345835 · Cited by 18
Cited by
Sorted by citations
Brown, R. H., & Al‐Chalabi, A. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1603471 · Cited by 2,580
Proteasomal and Autophagic Degradation Systems
Đikić, I. (2017) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-061516-044908 · Cited by 1,217
Richter, B., Sliter, D. A., Herhaus, L., Stolz, A., Wang, C., Beli, P., Zaffagnini, G., Wild, P., Martens, S., Wagner, S. A., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1523926113 · Cited by 755
Autophagy: The spotlight for cellular stress responses
Ravanan, P., Florance, I., & Talwar, P. (2017) · Life Sciences · doi:10.1016/j.lfs.2017.08.029 · Cited by 595
Liao, Y.-C., Fernandopulle, M. S., Wang, G., Choi, H., Hao, L., Drerup, C. M., Patel, R., Qamar, S., Nixon-Abell, J., Shen, Y., et al. (2019) · Cell · doi:10.1016/j.cell.2019.08.050 · Cited by 550
Metadata
- Authors
- Pottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., DeTure, M., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Boylan, K. B., Boeve, B. F., Graff-Radford, N. R., Veltman, J. A., Gilissen, C., Murray, M. E., Dickson, D. W., & Rademakers, R.
- Affiliations
- Mayo Clinic (US)
- Radboud University Nijmegen (NL)
- Corresponding author
- Rademakers, Rosa
- ORCID
- Venue
- Acta Neuropathologica
- Published
- 2015-05-06
- Volume
- 130
- Issue
- 1
- Pages
- 77-92
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC4470809
- OpenAlex
- W239648239
- Cited by
- 312
- References
- 63
- Citations by year
- 2026: 8 · 2025: 21 · 2024: 14 · 2023: 18 · 2022: 16 · 2021: 32 · 2020: 48 · 2019: 32 · 2018: 38 · 2017: 34 · 2016: 37 · 2015: 14
- FWCI
- 28.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- National Institutes of Health (R01 AG037491, R01 NS076471, R01 NS080882, R01 AG026251, P50 AG016574, U01 AG006786)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- frontotemporal dementia, optineurin, TBK1, loss-of-function mutations, compound heterozygosity, copy number variation, single nucleotide variants, oligogenic inheritance, amyotrophic lateral sclerosis
- MeSH terms
- Aged, Aged, 80 and over, Brain, Female, Humans, Immunohistochemistry, Male, Mutation, RNA, Messenger, Blotting, Western, Cohort Studies, Gene Expression, Motor Neuron Disease, Protein Serine-Threonine Kinases, Sequence Analysis, DNA, Cell Cycle Proteins, Membrane Transport Proteins, Transcription Factor TFIIIA, DNA Copy Number Variations, Frontotemporal Lobar Degeneration
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
