{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:58:22Z","timestamp":1791248302561,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000971","name":"Amyotrophic Lateral Sclerosis Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54 NS092091"],"award-info":[{"award-number":["U54 NS092091"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01 NS080882"],"award-info":[{"award-number":["R01 NS080882"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["P01 NS084974"],"award-info":[{"award-number":["P01 NS084974"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["P50 AG016574"],"award-info":[{"award-number":["P50 AG016574"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006402","name":"ALS Therapy Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006402","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1007\/s00401-015-1480-6","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T04:36:54Z","timestamp":1444019814000},"page":"863-876","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":123,"title":["Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72"],"prefix":"10.1007","volume":"130","author":[{"given":"Marka","family":"van Blitterswijk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania F.","family":"Gendron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C.","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariely","family":"DeJesus-Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NiCole A.","family":"Finch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia H.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian M.","family":"Daughrity","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa E.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Heckman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clotilde","family":"Lagier-Tourenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Edbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don W.","family":"Cleveland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A.","family":"Josephs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph E.","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Knopman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald C.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard","family":"Petrucelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley F.","family":"Boeve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neill R.","family":"Graff-Radford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin B.","family":"Boylan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,10,5]]},"reference":[{"issue":"3","key":"1480_CR1","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1007\/s00401-013-1149-y","volume":"126","author":"S Almeida","year":"2013","unstructured":"Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126(3):385\u2013399. doi:\n                    10.1007\/s00401-013-1149-y","journal-title":"Acta Neuropathol"},{"issue":"4","key":"1480_CR2","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 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS. Neuron 77(4):639\u2013646. doi:\n                    10.1016\/j.neuron.2013.02.004","journal-title":"Neuron"},{"issue":"6","key":"1480_CR3","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1007\/s00401-013-1199-1","volume":"126","author":"VV Belzil","year":"2013","unstructured":"Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L (2013) Reduced C9orf72 gene expression in c9FTD\/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126(6):895\u2013905. doi:\n                    10.1007\/s00401-013-1199-1","journal-title":"Acta Neuropathol"},{"issue":"6","key":"1480_CR4","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1001\/jamaneurol.2013.6368","volume":"71","author":"KF Bieniek","year":"2014","unstructured":"Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW (2014) Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol 71(6):775\u2013781. doi:\n                    10.1001\/jamaneurol.2013.6368","journal-title":"JAMA Neurol"},{"issue":"6239","key":"1480_CR5","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1126\/science.aaa9344","volume":"348","author":"J Chew","year":"2015","unstructured":"Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L (2015) Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science 348(6239):1151\u20131154. doi:\n                    10.1126\/science.aaa9344","journal-title":"Science"},{"issue":"2","key":"1480_CR6","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1002\/ana.23946","volume":"74","author":"S Ciura","year":"2013","unstructured":"Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E (2013) Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol 74(2):180\u2013187. doi:\n                    10.1002\/ana.23946","journal-title":"Ann Neurol"},{"key":"1480_CR7","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1186\/2051-5960-2-70","volume":"2","author":"YS Davidson","year":"2014","unstructured":"Davidson YS, Barker H, Robinson AC, Thompson JC, Harris J, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DM (2014) Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 2:70. doi:\n                    10.1186\/2051-5960-2-70","journal-title":"Acta Neuropathol Commun"},{"issue":"2","key":"1480_CR8","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 (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245\u2013256. doi:\n                    10.1016\/j.neuron.2011.09.011","journal-title":"Neuron"},{"issue":"2","key":"1480_CR9","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.neuron.2013.10.015","volume":"80","author":"CJ Donnelly","year":"2013","unstructured":"Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013) RNA toxicity from the ALS\/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80(2):415\u2013428. doi:\n                    10.1016\/j.neuron.2013.10.015","journal-title":"Neuron"},{"issue":"3","key":"1480_CR10","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00401-013-1147-0","volume":"126","author":"P Fratta","year":"2013","unstructured":"Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S (2013) Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 126(3):401\u2013409. doi:\n                    10.1007\/s00401-013-1147-0","journal-title":"Acta Neuropathol"},{"issue":"7567","key":"1480_CR11","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1038\/nature14974","volume":"525","author":"BD Freibaum","year":"2015","unstructured":"Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, Petrucelli L, Kim HJ, Gao FB, Taylor JP (2015) GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525(7567):129\u2013133. doi:\n                    10.1038\/nature14974","journal-title":"Nature"},{"issue":"1","key":"1480_CR12","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/S1474-4422(11)70261-7","volume":"11","author":"I Gijselinck","year":"2012","unstructured":"Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11(1):54\u201365. doi:\n                    10.1016\/S1474-4422(11)70261-7","journal-title":"Lancet Neurol"},{"issue":"7491","key":"1480_CR13","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1038\/nature13124","volume":"507","author":"AR Haeusler","year":"2014","unstructured":"Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507(7491):195\u2013200. doi:\n                    10.1038\/nature13124","journal-title":"Nature"},{"issue":"9","key":"1480_CR14","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1038\/nn.4085","volume":"18","author":"A Jovicic","year":"2015","unstructured":"Jovicic A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW 3rd, Sun S, Herdy JR, Bieri G, Kramer NJ, Gage FH, Van Den Bosch L, Robberecht W, Gitler AD (2015) Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD\/ALS. Nat Neurosci 18(9):1226\u20131229. doi:\n                    10.1038\/nn.4085","journal-title":"Nat Neurosci"},{"issue":"3","key":"1480_CR15","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1002\/ana.24453","volume":"78","author":"M Koppers","year":"2015","unstructured":"Koppers M, Blokhuis AM, Westeneng HJ, Terpstra ML, Zundel CA, Vieira de Sa R, Schellevis RD, Waite AJ, Blake DJ, Veldink JH, van den Berg LH, Pasterkamp RJ (2015) C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits. Ann Neurol 78(3):426\u2013438. doi:\n                    10.1002\/ana.24453","journal-title":"Ann Neurol"},{"issue":"47","key":"1480_CR16","doi-asserted-by":"publisher","first-page":"E4530","DOI":"10.1073\/pnas.1318835110","volume":"110","author":"C Lagier-Tourenne","year":"2013","unstructured":"Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci USA 110(47):E4530\u2013E4539. doi:\n                    10.1073\/pnas.1318835110","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"1480_CR17","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1007\/s00401-014-1286-y","volume":"128","author":"EY Liu","year":"2014","unstructured":"Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB (2014) C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS\/FTD. Acta Neuropathol 128(4):525\u2013541. doi:\n                    10.1007\/s00401-014-1286-y","journal-title":"Acta Neuropathol"},{"issue":"6","key":"1480_CR18","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1007\/s00401-013-1181-y","volume":"126","author":"IR Mackenzie","year":"2013","unstructured":"Mackenzie IR, Arzberger T, Kremmer E, Troost D, Lorenzl S, Mori K, Weng SM, Haass C, Kretzschmar HA, Edbauer D, Neumann M (2013) Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol 126(6):859\u2013879. doi:\n                    10.1007\/s00401-013-1181-y","journal-title":"Acta Neuropathol"},{"issue":"1","key":"1480_CR19","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/2051-5960-1-68","volume":"1","author":"DM Mann","year":"2013","unstructured":"Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S (2013) 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. Acta Neuropathol Commun 1(1):68. doi:\n                    10.1186\/2051-5960-1-68","journal-title":"Acta Neuropathol Commun"},{"issue":"6","key":"1480_CR20","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1007\/s00401-013-1189-3","volume":"126","author":"K Mori","year":"2013","unstructured":"Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126(6):881\u2013893. doi:\n                    10.1007\/s00401-013-1189-3","journal-title":"Acta Neuropathol"},{"issue":"6125","key":"1480_CR21","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 (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS. Science 339(6125):1335\u20131338. doi:\n                    10.1126\/science.1232927","journal-title":"Science"},{"issue":"2","key":"1480_CR22","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, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, 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, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257\u2013268. doi:\n                    10.1016\/j.neuron.2011.09.010","journal-title":"Neuron"},{"issue":"208","key":"1480_CR23","doi-asserted-by":"publisher","first-page":"208ra149","DOI":"10.1126\/scitranslmed.3007529","volume":"5","author":"D Sareen","year":"2013","unstructured":"Sareen D, O\u2019Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5(208):208ra149. doi:\n                    10.1126\/scitranslmed.3007529","journal-title":"Sci Transl Med"},{"issue":"4","key":"1480_CR24","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s00401-015-1450-z","volume":"130","author":"MH Schludi","year":"2015","unstructured":"Schludi MH, May S, Grasser FA, Rentzsch K, Kremmer E, Kupper C, Klopstock T, Arzberger T, Edbauer D (2015) Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol 130(4):537\u2013555. doi:\n                    10.1007\/s00401-015-1450-z","journal-title":"Acta Neuropathol"},{"issue":"5","key":"1480_CR25","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1016\/j.neuron.2014.07.041","volume":"83","author":"Z Su","year":"2014","unstructured":"Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD (2014) Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD\/ALS. Neuron 83(5):1043\u20131050. doi:\n                    10.1016\/j.neuron.2014.07.041","journal-title":"Neuron"},{"issue":"10","key":"1480_CR26","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1016\/S1474-4422(13)70210-2","volume":"12","author":"M van Blitterswijk","year":"2013","unstructured":"van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson DW, Rademakers R (2013) Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol 12(10):978\u2013988. doi:\n                    10.1016\/S1474-4422(13)70210-2","journal-title":"Lancet Neurol"},{"key":"1480_CR27","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1186\/1750-1326-9-38","volume":"9","author":"M van Blitterswijk","year":"2014","unstructured":"van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R (2014) Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration 9:38. doi:\n                    10.1186\/1750-1326-9-38","journal-title":"Molecular neurodegeneration"},{"issue":"7","key":"1480_CR28","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1016\/j.neurobiolaging.2014.01.016","volume":"35","author":"AJ Waite","year":"2014","unstructured":"Waite AJ, Baumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ (2014) Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging 35(7):1779. doi:\n                    10.1016\/j.neurobiolaging.2014.01.016\n                    \n                   \n                           (e1775\u20131779, e1713)","journal-title":"Neurobiol Aging"},{"key":"1480_CR29","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24469","author":"S Xiao","year":"2015","unstructured":"Xiao S, MacNair L, McGoldrick P, McKeever PM, McLean JR, Zhang M, Keith J, Zinman L, Rogaeva E, Robertson J (2015) Isoform specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Ann Neurol. doi:\n                    10.1002\/ana.24469","journal-title":"Ann Neurol"},{"issue":"7567","key":"1480_CR30","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/nature14973","volume":"525","author":"K Zhang","year":"2015","unstructured":"Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, Gupta S, Thomas MA, Hong I, Chiu SL, Huganir RL, Ostrow LW, Matunis MJ, Wang J, Sattler R, Lloyd TE, Rothstein JD (2015) The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525(7567):56\u201361. doi:\n                    10.1038\/nature14973","journal-title":"Nature"},{"issue":"51","key":"1480_CR31","doi-asserted-by":"publisher","first-page":"E4968","DOI":"10.1073\/pnas.1315438110","volume":"110","author":"T Zu","year":"2013","unstructured":"Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA 110(51):E4968\u2013E4977. doi:\n                    10.1073\/pnas.1315438110","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-015-1480-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-015-1480-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-015-1480-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-015-1480-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T08:39:23Z","timestamp":1589618363000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-015-1480-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,5]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["1480"],"URL":"https:\/\/doi.org\/10.1007\/s00401-015-1480-6","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,5]]},"assertion":[{"value":"22 July 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 September 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"MDJ and RR hold a patent on methods to screen for the hexanucleotide repeat expansion in the <i>C9ORF72<\/i> gene. All other authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}