{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T06:37:53Z","timestamp":1791959873626,"version":"4.3.4"},"reference-count":74,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T00:00:00Z","timestamp":1606953600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T00:00:00Z","timestamp":1606953600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The CReATe Consortium","award":["U54NS092091"],"award-info":[{"award-number":["U54NS092091"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS106754"],"award-info":[{"award-number":["NS106754"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AG017586"],"award-info":[{"award-number":["AG017586"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS092091"],"award-info":[{"award-number":["NS092091"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AG054060"],"award-info":[{"award-number":["AG054060"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000971","name":"ALS Association","doi-asserted-by":"publisher","award":["17\u2010LGCA\u2010331"],"award-info":[{"award-number":["17\u2010LGCA\u2010331"]}],"id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000971","name":"ALS Association","doi-asserted-by":"publisher","award":["16\u2010TACL\u2010242"],"award-info":[{"award-number":["16\u2010TACL\u2010242"]}],"id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO Mol Med"],"published-print":{"date-parts":[[2021,1,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Amyotrophic lateral sclerosis (ALS) is a multi\u2010system disease characterized primarily by progressive muscle weakness. Cognitive dysfunction is commonly observed in patients; however, factors influencing risk for cognitive dysfunction remain elusive. Using sparse canonical correlation analysis (sCCA), an unsupervised machine\u2010learning technique, we observed that single nucleotide polymorphisms collectively associate with baseline cognitive performance in a large ALS patient cohort (\n                    <jats:italic>N<\/jats:italic>\n                    \u00a0=\u00a0327) from the multicenter Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. We demonstrate that a polygenic risk score derived using sCCA relates to longitudinal cognitive decline in the same cohort and also to\n                    <jats:italic>in vivo<\/jats:italic>\n                    cortical thinning in the orbital frontal cortex, anterior cingulate cortex, lateral temporal cortex, premotor cortex, and hippocampus (\n                    <jats:italic>N<\/jats:italic>\n                    \u00a0=\u00a090) as well as\n                    <jats:italic>post\u2010mortem<\/jats:italic>\n                    motor cortical neuronal loss (\n                    <jats:italic>N<\/jats:italic>\n                    \u00a0=\u00a087) in independent ALS cohorts from the University of Pennsylvania Integrated Neurodegenerative Disease Biobank. Our findings suggest that common genetic polymorphisms may exert a polygenic contribution to the risk of cortical disease vulnerability and cognitive dysfunction in ALS.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202012595","type":"journal-article","created":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T14:28:31Z","timestamp":1607005711000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0832-6684","authenticated-orcid":false,"given":"Katerina","family":"Placek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Benatar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Wuu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evadnie","family":"Rampersaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Hennessy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivianna M","family":"Van Deerlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray","family":"Grossman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Irwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Elman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo","family":"McCluskey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Quinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volkan","family":"Granit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M","family":"Statland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ted M","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Ravits","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Swenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Katz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik P","family":"Pioro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlayne","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Caress","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuen","family":"So","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Maiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Walk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward B","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Q","family":"Trojanowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Gee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Sha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam C","family":"Naj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4049-0863","authenticated-orcid":false,"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The CReATe Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Paul Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7581-6405","authenticated-orcid":false,"given":"Corey T","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,12,3]]},"reference":[{"key":"BFEMMM202012595_CR1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3109\/21678421.2013.805784","volume":"15","author":"S Abrahams","year":"2014","unstructured":"Abrahams S, Newton J, Niven E, Foley J, Bak TH (2014) Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener 15: 9\u201314","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"BFEMMM202012595_CR2","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/hbm.23124","volume":"37","author":"F Agosta","year":"2016","unstructured":"Agosta F, Ferraro PM, Riva N, Spinelli EG, Chi\u00f2 A, Canu E, Valsasina P, Lunetta C, Iannaccone S, Copetti M et al (2016) Structural brain correlates of cognitive and behavioral impairment in MND. Hum Brain Mapp 37: 1614\u20131626","journal-title":"Hum Brain Mapp"},{"key":"BFEMMM202012595_CR3","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1016\/j.neuroimage.2010.01.041","volume":"50","author":"BB Avants","year":"2010","unstructured":"Avants BB, Cook PA, Ungar L, Gee JC, Grossman M (2010) Dementia induces correlated reductions in white matter integrity and cortical thickness: a multivariate neuroimaging study with sparse canonical correlation analysis. NeuroImage 50: 1004\u20131016","journal-title":"NeuroImage"},{"key":"BFEMMM202012595_CR4","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.neuroimage.2013.09.048","volume":"84","author":"BB Avants","year":"2014","unstructured":"Avants BB, Libon DJ, Rascovsky K, Boller A, McMillan CT, Massimo L, Coslett HB, Chatterjee A, Gross RG, Grossman M (2014) Sparse canonical correlation analysis relates network\u2010level atrophy to multivariate cognitive measures in a neurodegenerative population. NeuroImage 84: 698\u2013711","journal-title":"NeuroImage"},{"key":"BFEMMM202012595_CR5","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/ana.25431","volume":"85","author":"S Bandres\u2010Ciga","year":"2019","unstructured":"Bandres\u2010Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, ITALSGEN Consortium, International ALS Genomics Consortium, Tienari PJ, Stone DJ et al (2019) Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Ann Neurol 85: 470\u2013481","journal-title":"Ann Neurol"},{"key":"BFEMMM202012595_CR6","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jnnp-2015-310734","volume":"87","author":"E Beeldman","year":"2016","unstructured":"Beeldman E, Raaphorst J, Klein Twennaar M, de Visser M, Schmand BA, de Haan RJ (2016) The cognitive profile of ALS: a systematic review and meta\u2010analysis update. J Neurol Neurosurg Psychiatry 87: 611\u2013619","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BFEMMM202012595_CR7","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/146608200300079536","volume":"1","author":"BR Brooks","year":"2000","unstructured":"Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1: 293\u2013299","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"key":"BFEMMM202012595_CR8","doi-asserted-by":"crossref","first-page":"3195","DOI":"10.1093\/hmg\/ddg344","volume":"12","author":"B Burnett","year":"2003","unstructured":"Burnett B, Li F, Pittman RN (2003) The polyglutamine neurodegenerative protein ataxin\u20103 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet 12: 3195\u20133205","journal-title":"Hum Mol Genet"},{"key":"BFEMMM202012595_CR9","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S1474-4422(12)70014-5","volume":"11","author":"S Byrne","year":"2012","unstructured":"Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C et al (2012) Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population\u2010based cohort study. Lancet Neurol 11: 232\u2013240","journal-title":"Lancet Neurol"},{"key":"BFEMMM202012595_CR10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-510X(99)00210-5","volume":"169","author":"JM Cedarbaum","year":"1999","unstructured":"Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A (1999) The ALSFRS\u2010R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 169: 13\u201321","journal-title":"J Neurol Sci"},{"key":"BFEMMM202012595_CR11","doi-asserted-by":"crossref","first-page":"e1370","DOI":"10.1212\/WNL.0000000000006317","volume":"91","author":"C Crockford","year":"2018","unstructured":"Crockford C, Newton J, Lonergan K, Chiwera T, Booth T, Chandran S, Colville S, Heverin M, Mays I, Pal S et al (2018) ALS\u2010specific cognitive and behavior changes associated with advancing disease stage in ALS. Neurology 91: e1370\u2013e1380","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR12","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","volume":"48","author":"S Das","year":"2016","unstructured":"Das S, Forer L, Sch\u00f6nherr S, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M et al (2016) Next\u2010generation genotype imputation service and methods. Nat. Genet. 48: 1284\u20131287","journal-title":"Nat. Genet."},{"key":"BFEMMM202012595_CR13","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1136\/jnnp-2018-318788","volume":"90","author":"BS de Vries","year":"2019","unstructured":"de Vries BS, Rustemeijer LMM, Bakker LA, Schr\u00f6der CD, Veldink JH, van den Berg LH, Nijboer TCW, van Es MA (2019) Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes. J Neurol Neurosurg Psychiatry 90: 141\u2013147","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BFEMMM202012595_CR14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","volume":"72","author":"M DeJesus\u2010Hernandez","year":"2011","unstructured":"DeJesus\u2010Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p\u2010linked FTD and ALS. Neuron 72: 245\u2013256","journal-title":"Neuron"},{"key":"BFEMMM202012595_CR15","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1038\/mp.2015.6","volume":"20","author":"RS Desikan","year":"2015","unstructured":"Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen C\u2010H, Thompson WK et al (2015) Genetic overlap between Alzheimer\u2018s disease and Parkinson\u2019s disease at the MAPT locus. Mol Psychiatry 20: 1588\u20131595","journal-title":"Mol Psychiatry"},{"key":"BFEMMM202012595_CR16","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ana.24198","volume":"76","author":"FP Diekstra","year":"2014","unstructured":"Diekstra FP, Van Deerlin VM, van Swieten JC, Al\u2010Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH, van Es MA et al (2014) C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome\u2010wide meta\u2010analysis. Ann Neurol 76: 120\u2013133","journal-title":"Ann Neurol"},{"key":"BFEMMM202012595_CR17","doi-asserted-by":"crossref","first-page":"3328","DOI":"10.1038\/s41467-019-11112-0","volume":"10","author":"L Duncan","year":"2019","unstructured":"Duncan L, Shen H, Gelaye B, Meijsen J, Ressler K, Feldman M, Peterson R, Domingue B (2019) Analysis of polygenic risk score usage and performance in diverse human populations. Nat Commun 10: 3328","journal-title":"Nat Commun"},{"key":"BFEMMM202012595_CR18","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1212\/WNL.0b013e31828f18ac","volume":"80","author":"M Elamin","year":"2013","unstructured":"Elamin M, Bede P, Byrne S, Jordan N, Gallagher L, Wynne B, O'Brien C, Phukan J, Lynch C, Pender N et al (2013) Cognitive changes predict functional decline in ALS: a population\u2010based longitudinal study. Neurology 80: 1590\u20131597","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR19","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jnnp-2016-314411","volume":"88","author":"R Ferrari","year":"2017","unstructured":"Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB, International FTD\u2010Genomics Consortium (IFGC) et al (2017) Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer\u2018s and Parkinson\u2019s diseases. J Neurol Neurosurg Psychiatry 88: 152\u2013164.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BFEMMM202012595_CR20","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/nn.4000","volume":"18","author":"A Freischmidt","year":"2015","unstructured":"Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, M\u00fcller K, Marroquin N, Nordin F, H\u00fcbers A, Weydt P et al (2015) Haploinsufficiency of TBK1 causes familial ALS and fronto\u2010temporal dementia. Nat Neurosci 18: 631\u2013636","journal-title":"Nat Neurosci"},{"key":"BFEMMM202012595_CR21","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/ana.25465","volume":"85","author":"LAA Giannini","year":"2019","unstructured":"Giannini LAA, Xie SX, McMillan CT, Liang M, Williams A, Jester C, Rascovsky K, Wolk DA, Ash S, Lee EB et al (2019) Divergent patterns of TDP\u201043 and tau pathologies in primary progressive aphasia. Ann Neurol 85: 630\u2013643","journal-title":"Ann Neurol"},{"key":"BFEMMM202012595_CR22","doi-asserted-by":"crossref","first-page":"i341","DOI":"10.1093\/bioinformatics\/btx245","volume":"33","author":"X Hao","year":"2017","unstructured":"Hao X, Li C, Yan J, Yao X, Risacher SL, Saykin AJ, Shen L, Zhang D, Initiative ADN (2017) Identification of associations between genotypes and longitudinal phenotypes via temporally\u2010constrained group sparse canonical correlation analysis. Bioinformatics 33: i341\u2013i349","journal-title":"Bioinformatics"},{"key":"BFEMMM202012595_CR23","volume":"8","author":"WT Hu","year":"2013","unstructured":"Hu WT, Shelnutt M, Wilson A, Yarab N, Kelly C, Grossman M, Libon DJ, Khan J, Lah JJ, Levey AI et al (2013) Behavior matters\u2013cognitive predictors of survival in amyotrophic lateral sclerosis. PLoS One 8: e57584","journal-title":"PLoS One"},{"key":"BFEMMM202012595_CR24","first-page":"1193","volume":"2018","author":"SE Hunt","year":"2018","unstructured":"Hunt SE, McLaren W, Gil L, Thormann A, Schuilenburg H, Sheppard D, Parton A, Armean IM, Trevanion SJ, Flicek P et al (2018) Ensembl variation resources. Database 2018: 1193","journal-title":"Database"},{"key":"BFEMMM202012595_CR25","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ana.24559","volume":"79","author":"DJ Irwin","year":"2016","unstructured":"Irwin DJ, Brettschneider J, McMillan CT, Cooper F, Olm C, Arnold SE, Van Deerlin VM, Seeley WW, Miller BL, Lee EB et al (2016a) Deep clinical and neuropathological phenotyping of Pick disease. Ann Neurol 79: 272\u2013287","journal-title":"Ann Neurol"},{"key":"BFEMMM202012595_CR26","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1369\/0022155415614303","volume":"64","author":"DJ Irwin","year":"2016","unstructured":"Irwin DJ, Byrne MD, McMillan CT, Cooper F, Arnold SE, Lee EB, Van Deerlin VM, Xie SX, Lee VM\u2010Y, Grossman M et al (2016b) Semi\u2010automated digital image analysis of pick's disease and TDP\u201043 proteinopathy. J Histochem Cytochem 64: 54\u201366","journal-title":"J Histochem Cytochem"},{"key":"BFEMMM202012595_CR27","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1212\/WNL.0000000000000668","volume":"83","author":"DJ Irwin","year":"2014","unstructured":"Irwin DJ, McMillan CT, Suh E, Powers J, Rascovsky K, Wood EM, Toledo JB, Arnold SE, Lee VM\u2010Y, Van Deerlin VM et al (2014) Myelin oligodendrocyte basic protein and prognosis in behavioral\u2010variant frontotemporal dementia. Neurology 83: 502\u2013509","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR28","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1093\/brain\/awx319","volume":"141","author":"DJ Irwin","year":"2018","unstructured":"Irwin DJ, McMillan CT, Xie SX, Rascovsky K, Van Deerlin VM, Coslett HB, Hamilton R, Aguirre GK, Lee EB, Lee VM\u2010Y et al (2018) Asymmetry of post\u2010mortem neuropathology in behavioural\u2010variant frontotemporal dementia. Brain 141: 288\u2013301","journal-title":"Brain"},{"key":"BFEMMM202012595_CR29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/jamaneurol.2018.0372","volume":"75","author":"CM Karch","year":"2018","unstructured":"Karch CM, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, H\u00f6glinger G, M\u00fcller U, Ferrari R, Hardy J et al (2018) Selective genetic overlap between amyotrophic lateral sclerosis and diseases of the frontotemporal dementia spectrum. JAMA Neurol 75: 1\u201316","journal-title":"JAMA Neurol"},{"key":"BFEMMM202012595_CR30","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings B, Alfoldi J, Wang Q, Coolins RL, Laricchia KM, Ganna A, Burnbaum D et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581: 434\u2013443","journal-title":"Nature"},{"key":"BFEMMM202012595_CR31","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.3626","volume":"48","author":"KP Kenna","year":"2016","unstructured":"Kenna KP, van Doormaal PTC, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P et al (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet 48: 1037\u20131042","journal-title":"Nat Genet"},{"key":"BFEMMM202012595_CR32","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1212\/WNL.0b013e3181c1dea3","volume":"73","author":"W\u2010K Kim","year":"2009","unstructured":"Kim W\u2010K, Liu X, Sandner J, Pasmantier M, Andrews J, Rowland LP, Mitsumoto H (2009) Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 73: 1686\u20131692","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR33","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R (2010) Fast and accurate long\u2010read alignment with Burrows\u2010Wheeler transform. Bioinformatics 26: 589\u2013595","journal-title":"Bioinformatics"},{"key":"BFEMMM202012595_CR34","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3109\/17482968.2010.520718","volume":"12","author":"P Lillo","year":"2010","unstructured":"Lillo P, Mioshi E, Zoing MC, Kiernan MC, Hodges JR (2010) How common are behavioural changes in amyotrophic lateral sclerosis? Amyotrophic Lateral Sclerosis 12: 45\u201351","journal-title":"Amyotrophic Lateral Sclerosis"},{"key":"BFEMMM202012595_CR35","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1001\/archneurol.2009.277","volume":"66","author":"CF Lippa","year":"2009","unstructured":"Lippa CF, Rosso AL, Stutzbach LD, Neumann M, Lee VM\u2010Y, Trojanowski JQ (2009) Transactive response DNA\u2010binding protein 43 burden in familial Alzheimer disease and Down syndrome. Arch Neurol 66: 1483\u20131488","journal-title":"Arch Neurol"},{"key":"BFEMMM202012595_CR36","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.cortex.2018.01.004","volume":"101","author":"D Lul\u00e9","year":"2018","unstructured":"Lul\u00e9 D, B\u00f6hm S, M\u00fcller H\u2010P, Aho\u2010\u00d6zhan H, Keller J, Gorges M, Loose M, Weishaupt JH, Uttner I, Pinkhardt E et al (2018) Cognitive phenotypes of sequential staging in amyotrophic lateral sclerosis. Cortex 101: 163\u2013171","journal-title":"Cortex"},{"key":"BFEMMM202012595_CR37","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00401-011-0845-8","volume":"122","author":"IRA Mackenzie","year":"2011","unstructured":"Mackenzie IRA, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DMA, Lee VM\u2010Y (2011) A harmonized classification system for FTLD\u2010TDP pathology. Acta Neuropathol. 122: 111\u2013113","journal-title":"Acta Neuropathol."},{"key":"BFEMMM202012595_CR38","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1038\/ng.3643","volume":"48","author":"S McCarthy","year":"2016","unstructured":"McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K et al (2016) A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet 48: 1279\u20131283","journal-title":"Nat Genet"},{"key":"BFEMMM202012595_CR39","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next\u2010generation DNA sequencing data. Genome Res 20: 1297\u20131303","journal-title":"Genome Res"},{"key":"BFEMMM202012595_CR40","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1016\/j.neurobiolaging.2013.11.029","volume":"35","author":"CT McMillan","year":"2014","unstructured":"McMillan CT, Toledo JB, Avants BB, Cook PA, Wood EM, Suh E, Irwin DJ, Powers J, Olm C, Elman L et al (2014) Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration. Neurobiol Aging 35: 1473\u20131482","journal-title":"Neurobiol Aging"},{"key":"BFEMMM202012595_CR41","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jnnp-2013-307223","volume":"86","author":"A Montuschi","year":"2015","unstructured":"Montuschi A, Iazzolino B, Calvo A, Moglia C, Lopiano L, Restagno G, Brunetti M, Ossola I, Presti Lo A, Cammarosano S et al (2015) Cognitive correlates in amyotrophic lateral sclerosis: a population\u2010based study in Italy. J Neurol Neurosurg Psychiatry 86: 168\u2013173","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BFEMMM202012595_CR42","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00401-008-0477-9","volume":"117","author":"M Neumann","year":"2009","unstructured":"Neumann M, Kwong LK, Lee EB, Kremmer E, Flatley A, Xu Y, Forman MS, Troost D, Kretzschmar HA, Trojanowski JQ et al (2009) Phosphorylation of S409\/410 of TDP\u201043 is a consistent feature in all sporadic and familial forms of TDP\u201043 proteinopathies. Acta Neuropathol. 117: 137\u2013149","journal-title":"Acta Neuropathol."},{"key":"BFEMMM202012595_CR43","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","volume":"314","author":"M Neumann","year":"2006","unstructured":"Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM et al (2006) Ubiquitinated TDP\u201043 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130\u2013133","journal-title":"Science"},{"key":"BFEMMM202012595_CR44","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1016\/j.neuron.2018.02.027","volume":"97","author":"A Nicolas","year":"2018","unstructured":"Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P et al (2018) Genome\u2010wide analyses identify KIF5A as a novel ALS gene. Neuron 97: 1268\u20131283","journal-title":"Neuron"},{"issue":"Suppl 1","key":"BFEMMM202012595_CR45","doi-asserted-by":"crossref","first-page":"S119","DOI":"10.1186\/1753-6561-1-S1-S119","volume":"1","author":"E Parkhomenko","year":"2007","unstructured":"Parkhomenko E, Tritchler D, Beyene J (2007) Genome\u2010wide sparse canonical correlation of gene expression with genotypes. BMC Proc 1(Suppl 1): S119\u2013S125","journal-title":"BMC Proc"},{"key":"BFEMMM202012595_CR46","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.neurobiolaging.2018.09.031","volume":"73","author":"K Placek","year":"2019","unstructured":"Placek K, Baer GM, Elman L, McCluskey L, Hennessy L, Ferraro PM, Lee EB, Lee VM\u2010Y, Trojanowski JQ, Van Deerlin VM et al (2019) UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 73: 190\u2013199","journal-title":"Neurobiol Aging"},{"key":"BFEMMM202012595_CR47","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome\u2010wide association studies. Nat Genet 38: 904\u2013909","journal-title":"Nat Genet"},{"key":"BFEMMM202012595_CR48","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1212\/WNL.0000000000003062","volume":"87","author":"J Prudlo","year":"2016","unstructured":"Prudlo J, K\u00f6nig J, Schuster C, Kasper E, B\u00fcttner A, Teipel S, Neumann M (2016) TDP\u201043 pathology and cognition in ALS. Neurology 87: 1019\u20131023","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR49","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd\u2010Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ et al (2007) PLINK: a tool set for whole\u2010genome association and population\u2010based linkage analyses. Am. J. Hum. Genet. 81: 559\u2013575","journal-title":"Am. J. Hum. Genet."},{"key":"BFEMMM202012595_CR50","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","volume":"72","author":"AE Renton","year":"2011","unstructured":"Renton AE, Majounie E, Waite A, Sim\u00f3n\u2010S\u00e1nchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21\u2010linked ALS\u2010FTD. Neuron 72: 257\u2013268","journal-title":"Neuron"},{"key":"BFEMMM202012595_CR51","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","volume":"362","author":"DR Rosen","year":"1993","unstructured":"Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX (1993) Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59\u201362","journal-title":"Nature"},{"key":"BFEMMM202012595_CR52","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/21678421.2018.1530264","volume":"20","author":"N Simon","year":"2019","unstructured":"Simon N, Goldstein LH (2019) Screening for cognitive and behavioral change in amyotrophic lateral sclerosis\/motor neuron disease: a systematic review of validated screening methods. Amyotroph Lateral Scler Frontotemporal Degener 20: 1\u201311","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"BFEMMM202012595_CR53","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.neuroimage.2008.03.061","volume":"44","author":"SM Smith","year":"2009","unstructured":"Smith SM, Nichols TE (2009) Threshold\u2010free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference. NeuroImage 44: 83\u201398","journal-title":"NeuroImage"},{"key":"BFEMMM202012595_CR54","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/21678421.2016.1267768","volume":"18","author":"MJ Strong","year":"2017","unstructured":"Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts\u2010South A, Benatar M, Hortob\u00e1gyi T et al (2017) Amyotrophic lateral sclerosis \u2010 frontotemporal spectrum disorder (ALS\u2010FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener 18: 1\u201322","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"BFEMMM202012595_CR55","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1001\/jama.2019.3893","volume":"321","author":"LP Sugrue","year":"2019","unstructured":"Sugrue LP, Desikan RS (2019) What are polygenic scores and why are they important? JAMA 321: 1820\u20131821","journal-title":"JAMA"},{"key":"BFEMMM202012595_CR56","first-page":"1","volume":"130","author":"E Suh","year":"2015","unstructured":"Suh E, Lee EB, Neal D, Wood EM, Toledo JB, Rennert L, Irwin DJ, McMillan CT, Krock B, Elman LB et al (2015) Semi\u2010automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration. Acta Neuropathol. 130: 1\u201310","journal-title":"Acta Neuropathol."},{"key":"BFEMMM202012595_CR57","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1093\/bioinformatics\/btv112","volume":"31","author":"A Tan","year":"2015","unstructured":"Tan A, Abecasis GR, Kang HM (2015) Unified representation of genetic variants. Bioinformatics 31: 2202\u20132204","journal-title":"Bioinformatics"},{"key":"BFEMMM202012595_CR58","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jalz.2013.06.003","volume":"10","author":"JB Toledo","year":"2014","unstructured":"Toledo JB, Van Deerlin VM, Lee EB, Suh E, Baek Y, Robinson JL, Xie SX, McBride J, Wood EM, Schuck T et al (2014) A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank. Alzheimers Dement 10: 477\u201384","journal-title":"Alzheimers Dement"},{"key":"BFEMMM202012595_CR59","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1136\/jnnp-2017-315995","volume":"88","author":"MR Turner","year":"2017","unstructured":"Turner MR, Al\u2010Chalabi A, Chi\u00f2 A, Hardiman O, Kiernan MC, Rohrer JD, Rowe J, Seeley W, Talbot K (2017) Genetic screening in sporadic ALS and FTD. J Neurol Neurosurg Psychiatry 88: 1042\u20131044","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"BFEMMM202012595_CR60","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1109\/TMI.2010.2046908","volume":"29","author":"NJ Tustison","year":"2010","unstructured":"Tustison NJ, Avants BB, Cook PA, Zheng Y, Egan A, Yushkevich PA, Gee JC (2010) N4ITK: improved N3 bias correction. IEEE Trans Med Imaging 29: 1310\u20131320","journal-title":"IEEE Trans Med Imaging"},{"key":"BFEMMM202012595_CR61","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.neuroimage.2014.05.044","volume":"99","author":"NJ Tustison","year":"2014","unstructured":"Tustison NJ, Cook PA, Klein A, Song G, Das SR, Duda JT, Kandel BM, van Strien N, Stone JR, Gee JC et al (2014) Large\u2010scale evaluation of ANTs and FreeSurfer cortical thickness measurements. NeuroImage 99: 166\u2013179","journal-title":"NeuroImage"},{"key":"BFEMMM202012595_CR62","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1212\/WNL.0000000000003067","volume":"87","author":"ME Umoh","year":"2016","unstructured":"Umoh ME, Fournier C, Li Y, Polak M, Shaw L, Landers JE, Hu W, Gearing M, Glass JD (2016) Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population. Neurology 87: 1024\u20131030","journal-title":"Neurology"},{"key":"BFEMMM202012595_CR63","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S1474-4422(08)70071-1","volume":"7","author":"VM Van Deerlin","year":"2008","unstructured":"Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen\u2010Plotkin AS, Martinez\u2010Lage M et al (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP\u201043 neuropathology: a genetic and histopathological analysis. Lancet Neurol 7: 409\u2013416","journal-title":"Lancet Neurol"},{"key":"BFEMMM202012595_CR64","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1038\/ng.442","volume":"41","author":"MA van Es","year":"2009","unstructured":"van Es MA, Veldink JH, Saris CGJ, Blauw HM, van Vught PWJ, Birve A, Lemmens R, Schelhaas HJ, Groen EJN, Huisman MHB et al (2009) Genome\u2010wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 41: 1083\u20131087","journal-title":"Nat. Genet."},{"key":"BFEMMM202012595_CR65","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/ng.3622","volume":"48","author":"W van Rheenen","year":"2016","unstructured":"van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RAA, V\u00f5sa U, de Jong S, Robinson MR et al (2016) Genome\u2010wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat. Genet. 48: 1043\u20131048","journal-title":"Nat. Genet."},{"key":"BFEMMM202012595_CR66","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1126\/science.1165942","volume":"323","author":"C Vance","year":"2009","unstructured":"Vance C, Rogelj B, Hortob\u00e1gyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P et al (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208\u20131211","journal-title":"Science"},{"key":"BFEMMM202012595_CR67","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s00401-010-0782-y","volume":"121","author":"R Vass","year":"2011","unstructured":"Vass R, Ashbridge E, Geser F, Hu WT, Grossman M, Clay\u2010Falcone D, Elman L, McCluskey L, Lee VM\u2010Y, Van Deerlin VM et al (2011) Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis. Acta Neuropathol. 121: 373\u2013380","journal-title":"Acta Neuropathol."},{"key":"BFEMMM202012595_CR68","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1038\/s41436-018-0418-5","volume":"21","author":"NJ Wald","year":"2019","unstructured":"Wald NJ, Old R (2019) The illusion of polygenic disease risk prediction. Genet Med 21: 1705\u20131707","journal-title":"Genet Med"},{"key":"BFEMMM202012595_CR69","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.neuroimage.2014.01.060","volume":"92","author":"AM Winkler","year":"2014","unstructured":"Winkler AM, Ridgway GR, Webster MA, Smith SM, Nichols TE (2014) Permutation inference for the general linear model. NeuroImage 92: 381\u2013397","journal-title":"NeuroImage"},{"key":"BFEMMM202012595_CR70","doi-asserted-by":"crossref","first-page":"28","DOI":"10.2202\/1544-6115.1470","volume":"8","author":"DM Witten","year":"2009","unstructured":"Witten DM, Tibshirani RJ (2009) Extensions of sparse canonical correlation analysis with applications to genomic data. Stat Appl Genet Mol Biol 8: 28","journal-title":"Stat Appl Genet Mol Biol"},{"key":"BFEMMM202012595_CR71","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1093\/biostatistics\/kxp008","volume":"10","author":"DM Witten","year":"2009","unstructured":"Witten DM, Tibshirani R, Hastie T (2009) A penalized matrix decomposition, with applications to sparse principal components and canonical correlation analysis. Biostatistics 10: 515\u2013534","journal-title":"Biostatistics"},{"key":"BFEMMM202012595_CR72","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1001\/jamaneurol.2013.3956","volume":"70","author":"EM Wood","year":"2013","unstructured":"Wood EM, Falcone D, Suh E, Irwin DJ, Chen\u2010Plotkin AS, Lee EB, Xie SX, Van Deerlin VM, Grossman M (2013) Development and validation of pedigree classification criteria for frontotemporal lobar degeneration. JAMA Neurol 70: 1411\u20131417","journal-title":"JAMA Neurol"},{"key":"BFEMMM202012595_CR73","first-page":"1","volume":"9","author":"CH Xia","year":"2018","unstructured":"Xia CH, Ma Z, Ciric R, Gu S, Betzel RF, Kaczkurkin AN, Calkins ME, Cook PA, Garc\u00eda de la Garza A, Vandekar SNet al (2018) Linked dimensions of psychopathology and connectivity in functional brain networks. Nat Commun 9: 1\u201314","journal-title":"Nat Commun"},{"key":"BFEMMM202012595_CR74","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1007\/s00401-017-1693-y","volume":"133","author":"JS Yokoyama","year":"2017","unstructured":"Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, H\u00f6glinger GU et al (2017) Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 133: 825\u2013837","journal-title":"Acta Neuropathol."}],"container-title":["EMBO Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.15252\/emmm.202012595.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.15252\/emmm.202012595","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.15252\/emmm.202012595\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.embopress.org\/doi\/pdf\/10.15252\/emmm.202012595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.15252\/emmm.202012595.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T06:29:24Z","timestamp":1779085764000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.15252\/emmm.202012595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,3]]},"references-count":74,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1,11]]}},"alternative-id":["BFEMMM202012595"],"URL":"https:\/\/doi.org\/10.15252\/emmm.202012595","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2019.12.23.19014407","asserted-by":"object"}]},"ISSN":["1757-4676","1757-4684"],"issn-type":[{"value":"1757-4676","type":"print"},{"value":"1757-4684","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,3]]},"assertion":[{"value":"24 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The following authors declare the following conflicts of interest: C.T.M. receives financial support from Biogen and has provided consulting for Axon Advisors. M.B. reports grants from National Institutes of Health, the ALS Association, the Muscular Dystrophy Association, the Centers for Disease Control and Prevention, the Department of Defense, and Target ALS during the conduct of the study; personal fees from Mitsubishi Tanabe Pharma, AveXis, Prilenia, Genentech, and Roche outside the submitted work. In addition, M.B. has a provisional patent entitled \u201cDetermining Onset of Amyotrophic Lateral Sclerosis\u201d and serves as a site investigator on clinical trials funded by Biogen and Orphazyme. All other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"EMMM202012595"}}