{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T08:25:48Z","timestamp":1793175948016,"version":"4.5.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1186\/2051-5960-1-68","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T11:00:55Z","timestamp":1381748455000},"source":"Crossref","is-referenced-by-count":173,"title":["Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72"],"prefix":"10.1186","volume":"1","author":[{"given":"David MA","family":"Mann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Rollinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janis","family":"Bennion Callister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S","family":"Snowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Gendron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard","family":"Petrucelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Masuda-Suzukake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Pickering-Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,10,14]]},"reference":[{"key":"61_CR1","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s00401-007-0236-3","volume":"114","author":"D Neary","year":"2007","unstructured":"Neary D, Snowden JS, Mann DMA: Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol 2007, 114: 31\u201338. 10.1007\/s00401-007-0236-3","journal-title":"Acta Neuropathol"},{"key":"61_CR2","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/s00401-010-0765-z","volume":"121","author":"A Baborie","year":"2011","unstructured":"Baborie A, Griffiths TD, Jaros E, Richardson A, Ferrari R, Moreno J, Momeni P, McKeith IG, Burn DJ, Duplessis D, Pal P, Rollinson S, Pickering-Brown SM, Thompson JC, Neary D, Snowden JS, Perry R, Mann DMA: Pathological correlates of frontotemporal lobar degeneration in the elderly. Acta Neuropathol 2011, 121: 365\u2013373. 10.1007\/s00401-010-0765-z","journal-title":"Acta Neuropathol"},{"key":"61_CR3","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1007\/s00401-005-1079-4","volume":"110","author":"J Shi","year":"2005","unstructured":"Shi J, Shaw CL, Richardson AMT, Bailey K, Tian J, Varma AR, Neary D, Snowden JS, Mann DMA: Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 2005, 110: 501\u2013512. 10.1007\/s00401-005-1079-4","journal-title":"Acta Neuropathol"},{"key":"61_CR4","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1038\/31508","volume":"393","author":"M Hutton","year":"1998","unstructured":"Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden M, Pickering-Brown SM, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, De Graaf E, Wauters E, Van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski JQ, Basun H, et al.: Association of missense and 5\u2032\u2013splice-site mutation in tau with inherited dementia FTDP-17. Nature 1998, 393: 702\u2013705. 10.1038\/31508","journal-title":"Nature"},{"key":"61_CR5","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1038\/nature05016","volume":"442","author":"M Baker","year":"2006","unstructured":"Baker M, Mackenzie IRA, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442: 916\u2013919. 10.1038\/nature05016","journal-title":"Nature"},{"key":"61_CR6","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1038\/nature05017","volume":"442","author":"M Cruts","year":"2006","unstructured":"Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, Van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442: 920\u2013924. 10.1038\/nature05017","journal-title":"Nature"},{"key":"61_CR7","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1212\/01.wnl.0000200048.53766.b4","volume":"66","author":"M Morita","year":"2006","unstructured":"Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, De Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr: A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66: 839\u2013844. 10.1212\/01.wnl.0000200048.53766.b4","journal-title":"Neurology"},{"key":"61_CR8","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1093\/brain\/awl030","volume":"129","author":"C Vance","year":"2006","unstructured":"Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, De Jong V, Shaw CE: Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2\u201321.3. Brain 2006, 129: 868\u2013876. 10.1093\/brain\/awl030","journal-title":"Brain"},{"key":"61_CR9","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1001\/archneur.64.2.240","volume":"64","author":"PN Valdmanis","year":"2007","unstructured":"Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA: Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 2007, 64: 240\u2013245. 10.1001\/archneur.64.2.240","journal-title":"Arch Neurol"},{"key":"61_CR10","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1212\/WNL.0b013e3181a55f1c","volume":"72","author":"I Le Ber","year":"2009","unstructured":"Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerri\u00e8re A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A, French Research Network on FTD\/FTD-MND: Chromosome 9p-linked families with frontotemporal dementia associated with motor neurone disease. Neurology 2009, 72: 1669\u20131676. 10.1212\/WNL.0b013e3181a55f1c","journal-title":"Neurology"},{"key":"61_CR11","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1038\/ng.442","volume":"41","author":"MA Van Es","year":"2009","unstructured":"Van Es MA, Veldink JH, Saris CG, Blauw HM, Van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, De Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, Van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, et al.: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 41: 1083\u20131087. 10.1038\/ng.442","journal-title":"Nat Genet"},{"key":"61_CR12","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1016\/S1474-4422(10)70184-8","volume":"9","author":"H Laaksovirta","year":"2010","unstructured":"Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllikangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010, 9: 978\u2013985. 10.1016\/S1474-4422(10)70184-8","journal-title":"Lancet Neurol"},{"key":"61_CR13","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1016\/S1474-4422(10)70197-6","volume":"9","author":"A Shatunov","year":"2010","unstructured":"Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, Van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chi\u00f2 A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, et al.: Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010, 9: 986\u2013994. 10.1016\/S1474-4422(10)70197-6","journal-title":"Lancet Neurol"},{"key":"61_CR14","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/ng.536","volume":"42","author":"VM Van Deerlin","year":"2010","unstructured":"Van Deerlin VM, Sleiman PMA, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DMA, Pickering-Brown SM, Seelaar H, Heutink P, Van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, et al.: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010, 42: 234\u2013243. 10.1038\/ng.536","journal-title":"Nat Genet"},{"key":"61_CR15","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","volume":"72","author":"M DeJesus-Hernandez","year":"2011","unstructured":"DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R, et al.: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72: 245\u2013256. 10.1016\/j.neuron.2011.09.011","journal-title":"Neuron"},{"key":"61_CR16","doi-asserted-by":"publisher","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-S\u00e1nchez J, Rollinson S, Gibbs JR, Laaksovirta H, Schymick JC, Van Swieten J, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, et al.: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked amyotrophic lateral sclerosis-frontotemporal dementia. Neuron 2011, 72: 257\u2013268. 10.1016\/j.neuron.2011.09.010","journal-title":"Neuron"},{"key":"61_CR17","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1007\/s00401-011-0911-2","volume":"122","author":"S Al-Sarraj","year":"2011","unstructured":"Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE: p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND\/ALS. Acta Neuropathol 2011, 122: 691\u2013702. 10.1007\/s00401-011-0911-2","journal-title":"Acta Neuropathol"},{"key":"61_CR18","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1136\/jnnp.2009.204081","volume":"82","author":"AL Boxer","year":"2011","unstructured":"Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Fote D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, DeArmond S, Miller BL, Rademakers R: Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011, 82: 196\u2013203. 10.1136\/jnnp.2009.204081","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"61_CR19","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1007\/s00401-011-0907-y","volume":"122","author":"ME Murray","year":"2011","unstructured":"Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford N, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW: Clinical and neuropathological heterogeneity of c9FTD\/ALS associated with hexanucleotide repeat expansion in C9ORF72 . Acta Neuropathol 2011, 122: 673\u2013690. 10.1007\/s00401-011-0907-y","journal-title":"Acta Neuropathol"},{"key":"61_CR20","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1093\/brain\/awr355","volume":"135","author":"JS Snowden","year":"2012","unstructured":"Snowden JS, Rollinson S, Thompson JC, Harris J, Stopford CL, Richardson A, Jones M, Gerhard A, Davidson Y, Robinson A, Gibbons L, Hu Q, Halliwell N, DuPlessis D, Neary D, Mann DMA, Pickering-Brown S: Distinct clinical characteristics in patients with frontotemporal dementia and C 9ORF72 mutations: a study of demographics, neurology, behaviour, cognition, and histopathology. Brain 2012, 135: 693\u2013708. 10.1093\/brain\/awr355","journal-title":"Brain"},{"key":"61_CR21","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1007\/s00401-007-0237-2","volume":"114","author":"NJ Cairns","year":"2007","unstructured":"Cairns NJ, Bigio EH, Mackenzie IRA, Neumann M, Lee VMY, Hatanpaa KJ, White CL III, Schneider JA, Tenenholz Grinberg L, Halliday G, Duyckaerts C, Lowe JS, Holm IE, Tolnay M, Okamoto K, Yokoo H, Murayama S, Woulfe J, Munoz DG, Dickson DW, Ince PG, Trojanowski JQ, Mann DMA: Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the consortium for frontotemporal lobar degeneration. Acta Neuropathol 2007, 114: 2\u201322.","journal-title":"Acta Neuropathol"},{"key":"61_CR22","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1007\/s00401-006-0138-9","volume":"112","author":"IRA Mackenzie","year":"2006","unstructured":"Mackenzie IRA, Baborie A, Pickering-Brown S, Du Plessis D, Jaros E, Perry RH, Neary D, Snowden JS, Mann DMA: Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol 2006, 112: 539\u2013549. 10.1007\/s00401-006-0138-9","journal-title":"Acta Neuropathol"},{"key":"61_CR23","doi-asserted-by":"publisher","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 VMY: A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 2011, 122: 111\u2013113. 10.1007\/s00401-011-0845-8","journal-title":"Acta Neuropathol"},{"key":"61_CR24","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/j.1440-1789.2010.01171.x","volume":"31","author":"A King","year":"2011","unstructured":"King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S: Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathology 2011, 31: 239\u2013249. 10.1111\/j.1440-1789.2010.01171.x","journal-title":"Neuropathology"},{"key":"61_CR25","doi-asserted-by":"publisher","first-page":"7778","DOI":"10.1073\/pnas.1219643110","volume":"110","author":"Z Xu","year":"2013","unstructured":"Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P: Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A 2013, 110: 7778\u20137783. 10.1073\/pnas.1219643110","journal-title":"Proc Natl Acad Sci U S A"},{"key":"61_CR26","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1016\/j.neuron.2013.02.004","volume":"77","author":"PE Ash","year":"2013","unstructured":"Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, Van Blitterswijk MM, Jansen-West K, Paul JW III, Rademakers R, Boylan KB, Dickson DW, Petrucelli L: Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS. Neuron 2013, 77: 639\u2013646. 10.1016\/j.neuron.2013.02.004","journal-title":"Neuron"},{"key":"61_CR27","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1126\/science.1232927","volume":"339","author":"K Mori","year":"2013","unstructured":"Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D: The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS. Science 2013, 339: 1335\u20131338. 10.1126\/science.1232927","journal-title":"Science"},{"key":"61_CR28","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1136\/jnnp.57.4.416","volume":"57","author":"A Brun","year":"1994","unstructured":"Brun A, Englund E, Gustafson L, Passant U, Mann DMA, Neary D, Snowden JS: Clinical, neuropsychological and neuropathological criteria of fronto-temporal dementia. J Neurol Neurosurg Psychiatry 1994, 57: 416\u2013418.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"61_CR29","doi-asserted-by":"publisher","first-page":"1546","DOI":"10.1212\/WNL.51.6.1546","volume":"51","author":"D Neary","year":"1998","unstructured":"Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF: Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998, 51: 1546\u20131554. 10.1212\/WNL.51.6.1546","journal-title":"Neurology"},{"issue":"suppl","key":"61_CR30","first-page":"96","volume":"124","author":"BR Brooks","year":"2004","unstructured":"Brooks BR: El escorial world federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis: subcommittee on motor neuron diseases\/amyotrophic lateral sclerosis of the world federation of neurology research group on neuromuscular diseases and the el escorial \u201cClinical limits of amyotrophic lateral sclerosis\u201d workshop contributors. J Neurol Sci 2004,124(suppl):96\u2013107.","journal-title":"J Neurol Sci"},{"key":"61_CR31","volume-title":"Molecular cloning: a laboratory manual","author":"J Sambrook","year":"2000","unstructured":"Sambrook J: Molecular cloning: a laboratory manual. 3rd edition. 2000.","edition":"3"},{"key":"61_CR32","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1111\/j.1399-0004.2012.01903.x","volume":"83","author":"SG Lindquist","year":"2013","unstructured":"Lindquist SG, Duno M, Batbayli M, Puscmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johanssen P, Nielsen JE: Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013, 83: 279\u2013283. 10.1111\/j.1399-0004.2012.01903.x","journal-title":"Clin Genet"},{"key":"61_CR33","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/s00401-013-1088-7","volume":"125","author":"K Mori","year":"2013","unstructured":"Mori K, Lammich S, Mackenzie IR, Forn\u00e9 I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C: hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive\/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 2013, 125: 413\u2013423. 10.1007\/s00401-013-1088-7","journal-title":"Acta Neuropathol"},{"key":"61_CR34","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1007\/s00401-012-0970-z","volume":"123","author":"J Brettschneider","year":"2012","unstructured":"Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VMY, Trojanowski JQ: Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 2012, 123: 825\u2013839. 10.1007\/s00401-012-0970-z","journal-title":"Acta Neuropathol"},{"key":"61_CR35","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1093\/brain\/awr361","volume":"135","author":"CJ Mahoney","year":"2012","unstructured":"Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD: Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 2012, 135: 736\u2013750. 10.1093\/brain\/awr361","journal-title":"Brain"},{"key":"61_CR36","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1093\/brain\/aws001","volume":"135","author":"JL Whitwell","year":"2012","unstructured":"Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA: Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012, 135: 794\u2013806. 10.1093\/brain\/aws001","journal-title":"Brain"},{"issue":"33","key":"61_CR37","first-page":"e5","volume":"2012","author":"S Rollinson","year":"1846","unstructured":"Rollinson S, Halliwell N, Young K, Bennion Callister J, Toulson G, Gibbons L, Davidson Y, Robinson A, Gerhard A, Richardson A, Neary D, Snowden J, Mann D, Pickering Brown SM: Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer\u2019s disease. Neurobiol Ageing 1846,2012(33):e5-e6.","journal-title":"Neurobiol Ageing"},{"key":"61_CR38","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","volume":"92","author":"J Beck","year":"2013","unstructured":"Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S: Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 2013, 92: 345\u2013353. 10.1016\/j.ajhg.2013.01.011","journal-title":"Am J Hum Genet"},{"issue":"1712","key":"61_CR39","first-page":"e1","volume":"34","author":"R Cacace","year":"2013","unstructured":"Cacace R, Van Cauwenberghe C, Bettens K, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, B\u00e4umer V, Dillen L, Mattheijssens M, Peeters K, Cruts M, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K: C9orf72 G4C2 repeat expansions in Alzheimer\u2019s disease and mild cognitive impairment. Neurobiol Aging 2013,34(1712):e1-e7.","journal-title":"Neurobiol Aging"},{"key":"61_CR40","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/2051-5960-1-50","volume":"1","author":"YS Davidson","year":"2013","unstructured":"Davidson YS, Robinson AC, Snowden JS, Mann DMA: Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer\u2019s disease. Acta Neuropathol Comm 2013, 1: 50. 10.1186\/2051-5960-1-50","journal-title":"Acta Neuropathol Comm"},{"key":"61_CR41","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1001\/2013.jamaneurol.537","volume":"70","author":"M Harms","year":"2013","unstructured":"Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C, NIA-LOAD\/NCRAD Family Study Consortium: C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 2013, 70: 736\u2013741. 10.1001\/2013.jamaneurol.537","journal-title":"JAMA Neurol"},{"issue":"1519","key":"61_CR42","first-page":"e1","volume":"34","author":"MB Harms","year":"2013","unstructured":"Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C: Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 2013,34(1519):e1-e2.","journal-title":"Neurobiol Aging"},{"issue":"1519","key":"61_CR43","first-page":"e5","volume":"34","author":"MA Kohli","year":"2013","unstructured":"Kohli MA, John-Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, Carney RM, Wright C, Crocco E, Gwirtzman HE, Lang R, Beecham G, Martin ER, Gilbert J, Benatar M, Small GW, Mash D, Byrd G, Haines JL, Pericak-Vance MA, Z\u00fcchner S: Repeat expansions in the C9ORF72 gene contribute to Alzheimer\u2019s disease in Caucasians. Neurobiol Aging 2013,34(1519):e5-e12.","journal-title":"Neurobiol Aging"},{"key":"61_CR44","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1056\/NEJMc1113592","volume":"366","author":"E Majounie","year":"2013","unstructured":"Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ: Repeat expansion in C9ORF72 in Alzheimer\u2019s disease. New Engl J Med 2013, 366: 283\u2013284.","journal-title":"New Engl J Med"},{"issue":"1710","key":"61_CR45","first-page":"e7","volume":"34","author":"H Daoud","year":"2013","unstructured":"Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupr\u00e9 N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Rouleau GA: Investigation of C9orf72 repeat expansions in Parkinson\u2019s disease. Neurobiol Aging 2013,34(1710):e7-e9.","journal-title":"Neurobiol Aging"},{"key":"61_CR46","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1093\/brain\/aws357","volume":"136","author":"S Lesage","year":"2013","unstructured":"Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, D\u00fcrr A, Brice A, French Parkinson\u2019s Disease Genetics Study Group: C9orf72 repeat expansions are a rare genetic cause of Parkinsonism. Brain 2013, 136: 385\u2013391. 10.1093\/brain\/aws357","journal-title":"Brain"},{"issue":"2527","key":"61_CR47","first-page":"e1","volume":"33","author":"E Majounie","year":"2013","unstructured":"Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB: Large C9orf72 repeat expansions are not a common cause of Parkinson\u2019s disease. Neurobiol Aging 2013,33(2527):e1-e2.","journal-title":"Neurobiol Aging"}],"container-title":["Acta Neuropathologica Communications"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/2051-5960-1-68.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T13:18:40Z","timestamp":1548163120000},"score":1,"resource":{"primary":{"URL":"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/2051-5960-1-68"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,14]]},"references-count":47,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["61"],"URL":"https:\/\/doi.org\/10.1186\/2051-5960-1-68","relation":{},"ISSN":["2051-5960"],"issn-type":[{"value":"2051-5960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,14]]},"article-number":"68"}}