{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T22:59:46Z","timestamp":1788562786143,"version":"build-2803163510"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T00:00:00Z","timestamp":1502668800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T00:00:00Z","timestamp":1502668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["AG16574-17J PILOT 2"],"award-info":[{"award-number":["AG16574-17J PILOT 2"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R21NS074121"],"award-info":[{"award-number":["R21NS074121"]}],"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":["P01NS084974"],"award-info":[{"award-number":["P01NS084974"]}],"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":["P01NS084974"],"award-info":[{"award-number":["P01NS084974"]}],"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":["P01NS084974"],"award-info":[{"award-number":["P01NS084974"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000971","name":"Amyotrophic Lateral Sclerosis Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Donors Cure Foundation"},{"DOI":"10.13039\/100009017","name":"ALS Society of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009017","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009408","name":"Fondation Brain Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009408","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000030","name":"Institute of Genetics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001856","name":"Siragusa Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001856","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Robert and Clarice Smith & Abigail Van Buren Alzheimer\u2019s Disease Research Foundation"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1007\/s00401-017-1760-4","type":"journal-article","created":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T11:06:29Z","timestamp":1502708789000},"page":"715-728","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease"],"prefix":"10.1007","volume":"134","author":[{"given":"Mark T. W.","family":"Ebbert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian A.","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc J.","family":"Pregent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"Lank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca B.","family":"Katzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Jansen-West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuping","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edroaldo Lummertz","family":"da Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Palmucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Desaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia E.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M.","family":"Caputo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin B.","family":"Boylan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Ordog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique V.","family":"Belzil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,8,14]]},"reference":[{"key":"1760_CR1","doi-asserted-by":"publisher","first-page":"R87","DOI":"10.1186\/gb-2012-13-10-r87","volume":"13","author":"A Akalin","year":"2012","unstructured":"Akalin A, Kormaksson M, Li S, Garrett-Bakelman FE, Figueroa ME, Melnick A et al (2012) methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles. Genome Biol 13:R87. doi:\n                    10.1186\/gb-2012-13-10-r87","journal-title":"Genome Biol"},{"key":"1760_CR2","doi-asserted-by":"publisher","first-page":"1787","DOI":"10.1126\/science.1155472","volume":"319","author":"PP Amaral","year":"2008","unstructured":"Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008) The eukaryotic genome as an RNA machine. Science 319:1787\u20131789. doi:\n                    10.1126\/science.1155472","journal-title":"Science"},{"key":"1760_CR3","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.brainres.2014.02.015","volume":"1584","author":"VV Belzil","year":"2014","unstructured":"Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L (2014) Characterization of DNA hypermethylation in the cerebellum of c9FTD\/ALS patients. Brain Res 1584:15\u201321. doi:\n                    10.1016\/j.brainres.2014.02.015","journal-title":"Brain Res"},{"key":"1760_CR4","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 et al (2013) Reduced C9orf72 gene expression in c9FTD\/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126:895\u2013905. doi:\n                    10.1007\/s00401-013-1199-1","journal-title":"Acta Neuropathol"},{"key":"1760_CR5","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.mcn.2012.12.006","volume":"56C","author":"VV Belzil","year":"2012","unstructured":"Belzil VV, Gendron TF, Petrucelli L (2012) RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci 56C:406\u2013419. doi:\n                    10.1016\/j.mcn.2012.12.006","journal-title":"Mol Cell Neurosci"},{"key":"1760_CR6","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1587-4","author":"VV Belzil","year":"2016","unstructured":"Belzil VV, Katzman RB, Petrucelli L (2016) ALS and FTD: an epigenetic perspective. Acta Neuropathol. doi:\n                    10.1007\/s00401-016-1587-4","journal-title":"Acta Neuropathol"},{"key":"1760_CR7","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1002\/ana.23969","volume":"74","author":"S Byrne","year":"2013","unstructured":"Byrne S, Heverin M, Elamin M, Bede P, Lynch C, Kenna K et al (2013) Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis. Ann Neurol 74:699\u2013708. doi:\n                    10.1002\/ana.23969","journal-title":"Ann Neurol"},{"key":"1760_CR8","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1136\/jnnp.2010.224501","volume":"82","author":"S Byrne","year":"2011","unstructured":"Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K et al (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82:623\u2013627. doi:\n                    10.1136\/jnnp.2010.224501","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1760_CR9","first-page":"5559","volume-title":"The metabolic and molecular bases of inherited disease, vol IV","author":"DW Cox","year":"2001","unstructured":"Cox DW (2001) Alpha-1-antitrypsin. In: Scriver CRB, Sly AL, Valle D (eds) The metabolic and molecular bases of inherited disease, vol IV, 8th edn. McGraw-Hill, New York, pp 5559\u20135584","edition":"8"},{"key":"1760_CR10","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 et al (2013) RNA toxicity from the ALS\/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415\u2013428. doi:\n                    10.1016\/j.neuron.2013.10.015","journal-title":"Neuron"},{"key":"1760_CR11","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1038\/srep01016","volume":"2","author":"P Fratta","year":"2012","unstructured":"Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G et al (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2:1016. doi:\n                    10.1038\/srep01016","journal-title":"Sci Rep"},{"key":"1760_CR12","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1007\/s00401-015-1474-4","volume":"130","author":"TF Gendron","year":"2015","unstructured":"Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK et al (2015) Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathol 130:559\u2013573. doi:\n                    10.1007\/s00401-015-1474-4","journal-title":"Acta Neuropathol"},{"key":"1760_CR13","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1212\/01.wnl.0000438219.39061.da","volume":"82","author":"SB Gibson","year":"2014","unstructured":"Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L (2014) Familial clustering of ALS in a population-based resource. Neurology 82:17\u201322. doi:\n                    10.1212\/01.wnl.0000438219.39061.da","journal-title":"Neurology"},{"issue":"798","key":"1760_CR14","doi-asserted-by":"publisher","first-page":"e791","DOI":"10.1016\/j.cell.2015.01.052","volume":"160","author":"R Guerreiro","year":"2015","unstructured":"Guerreiro R, Bras J, Hardy J (2015) SnapShot: genetics of ALS and FTD. Cell 160(798):e791. doi:\n                    10.1016\/j.cell.2015.01.052","journal-title":"Cell"},{"key":"1760_CR15","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 et al (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507:195\u2013200. doi:\n                    10.1038\/nature13124","journal-title":"Nature"},{"key":"1760_CR16","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/nrg3863","volume":"16","author":"D Holoch","year":"2015","unstructured":"Holoch D, Moazed D (2015) RNA-mediated epigenetic regulation of gene expression. Nat Rev Genet 16:71\u201384. doi:\n                    10.1038\/nrg3863","journal-title":"Nat Rev Genet"},{"key":"1760_CR17","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1126\/science.1139517","volume":"315","author":"J Jung","year":"2007","unstructured":"Jung J, Bonini N (2007) CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science 315:1857\u20131859. doi:\n                    10.1126\/science.1139517","journal-title":"Science"},{"key":"1760_CR18","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/1357-2725(96)00032-5","volume":"28","author":"NA Kalsheker","year":"1996","unstructured":"Kalsheker NA (1996) Alpha 1-antichymotrypsin. Int J Biochem Cell Biol 28:961\u2013964","journal-title":"Int J Biochem Cell Biol"},{"key":"1760_CR19","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1016\/j.neurobiolaging.2005.07.015","volume":"27","author":"MI Kamboh","year":"2006","unstructured":"Kamboh MI, Minster RL, Kenney M, Ozturk A, Desai PP, Kammerer CM et al (2006) Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer\u2019s disease. Neurobiol Aging 27:1435\u20131439. doi:\n                    10.1016\/j.neurobiolaging.2005.07.015","journal-title":"Neurobiol Aging"},{"key":"1760_CR20","doi-asserted-by":"publisher","first-page":"1571","DOI":"10.1093\/bioinformatics\/btr167","volume":"27","author":"F Krueger","year":"2011","unstructured":"Krueger F, Andrews SR (2011) Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications. Bioinformatics 27:1571\u20131572. doi:\n                    10.1093\/bioinformatics\/btr167","journal-title":"Bioinformatics"},{"key":"1760_CR21","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201600259RR","author":"L Lam","year":"2016","unstructured":"Lam L, Chin L, Halder RC, Sagong B, Famenini S, Sayre J et al (2016) Epigenetic changes in T-cell and monocyte signatures and production of neurotoxic cytokines in ALS patients. FASEB J. doi:\n                    10.1096\/fj.201600259RR","journal-title":"FASEB J"},{"key":"1760_CR22","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/nmeth.1923","volume":"9","author":"B Langmead","year":"2012","unstructured":"Langmead B, Salzberg SL (2012) Fast gapped-read alignment with Bowtie 2. Nat Methods 9:357\u2013359. doi:\n                    10.1038\/nmeth.1923","journal-title":"Nat Methods"},{"key":"1760_CR23","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 et al (2014) C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS\/FTD. Acta Neuropathol 128:525\u2013541. doi:\n                    10.1007\/s00401-014-1286-y","journal-title":"Acta Neuropathol"},{"key":"1760_CR24","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/bies.080099","volume":"31","author":"JS Mattick","year":"2009","unstructured":"Mattick JS, Amaral PP, Dinger ME, Mercer TR, Mehler MF (2009) RNA regulation of epigenetic processes. BioEssays 31:51\u201359. doi:\n                    10.1002\/bies.080099","journal-title":"BioEssays"},{"key":"1760_CR25","doi-asserted-by":"publisher","first-page":"418","DOI":"10.3109\/17482960802635397","volume":"10","author":"JM Morahan","year":"2009","unstructured":"Morahan JM, Yu B, Trent RJ, Pamphlett R (2009) A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10:418\u2013429. doi:\n                    10.3109\/17482960802635397","journal-title":"Amyotroph Lateral Scler"},{"key":"1760_CR26","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1038\/nrg3722","volume":"15","author":"KV Morris","year":"2014","unstructured":"Morris KV, Mattick JS (2014) The rise of regulatory RNA. Nat Rev Genet 15:423\u2013437. doi:\n                    10.1038\/nrg3722","journal-title":"Nat Rev Genet"},{"key":"1760_CR27","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1093\/dnares\/8.2.85","volume":"8","author":"T Nagase","year":"2001","unstructured":"Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001) Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 8:85\u201395","journal-title":"DNA Res"},{"key":"1760_CR28","doi-asserted-by":"publisher","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 et al (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130\u2013133","journal-title":"Science"},{"key":"1760_CR29","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/S0945-053X(03)00007-6","volume":"22","author":"JM Pace","year":"2003","unstructured":"Pace JM, Corrado M, Missero C, Byers PH (2003) Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. Matrix Biol 22:3\u201314","journal-title":"Matrix Biol"},{"key":"1760_CR30","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/nrg3458","volume":"14","author":"LA Pennacchio","year":"2013","unstructured":"Pennacchio LA, Bickmore W, Dean A, Nobrega MA, Bejerano G (2013) Enhancers: five essential questions. Nat Rev Genet 14:288\u2013295. doi:\n                    10.1038\/nrg3458","journal-title":"Nat Rev Genet"},{"key":"1760_CR31","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.brainres.2012.02.059","volume":"1462","author":"M Polymenidou","year":"2012","unstructured":"Polymenidou M, Lagier-Tourenne C, Hutt KR, Bennett CF, Cleveland DW, Yeo GW (2012) Misregulated RNA processing in amyotrophic lateral sclerosis. Brain Res 1462:3\u201315. doi:\n                    10.1016\/j.brainres.2012.02.059","journal-title":"Brain Res"},{"key":"1760_CR32","doi-asserted-by":"publisher","first-page":"507","DOI":"10.3109\/21678421.2013.812661","volume":"14","author":"T Prell","year":"2013","unstructured":"Prell T, Grosskreutz J (2013) The involvement of the cerebellum in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 14:507\u2013515. doi:\n                    10.3109\/21678421.2013.812661","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"1760_CR33","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1038\/nn.4065","volume":"18","author":"M Prudencio","year":"2015","unstructured":"Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ et al (2015) Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nat Neurosci 18:1175\u20131182. doi:\n                    10.1038\/nn.4065","journal-title":"Nat Neurosci"},{"key":"1760_CR34","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1038\/nrneurol.2012.276","volume":"9","author":"R Rademakers","year":"2013","unstructured":"Rademakers R, van Blitterswijk M (2013) Motor neuron disease in 2012: novel causal genes and disease modifiers. Nat Rev Neurol 9:63\u201364. doi:\n                    10.1038\/nrneurol.2012.276","journal-title":"Nat Rev Neurol"},{"key":"1760_CR35","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.pneurobio.2011.10.006","volume":"97","author":"AJ Renoux","year":"2012","unstructured":"Renoux AJ, Todd PK (2012) Neurodegeneration the RNA way. Prog Neurobiol 97:173\u2013189. doi:\n                    10.1016\/j.pneurobio.2011.10.006","journal-title":"Prog Neurobiol"},{"key":"1760_CR36","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/nn.3584","volume":"17","author":"AE Renton","year":"2014","unstructured":"Renton AE, Chio A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17:17\u201323. doi:\n                    10.1038\/nn.3584","journal-title":"Nat Neurosci"},{"key":"1760_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.06.017","author":"F Spitz","year":"2016","unstructured":"Spitz F (2016) Gene regulation at a distance: from remote enhancers to 3D regulatory ensembles. Semin Cell Dev Biol. doi:\n                    10.1016\/j.semcdb.2016.06.017","journal-title":"Semin Cell Dev Biol"},{"key":"1760_CR38","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 et al (2014) Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD\/ALS. Neuron 83:1043\u20131050. doi:\n                    10.1016\/j.neuron.2014.07.041","journal-title":"Neuron"},{"key":"1760_CR39","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/ana.24565","volume":"79","author":"RH Tan","year":"2016","unstructured":"Tan RH, Kril JJ, McGinley C, Hassani M, Masuda-Suzukake M, Hasegawa M et al (2016) Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions. Ann Neurol 79:295\u2013305. doi:\n                    10.1002\/ana.24565","journal-title":"Ann Neurol"},{"key":"1760_CR40","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s11910-016-0658-1","volume":"16","author":"M Therrien","year":"2016","unstructured":"Therrien M, Dion PA, Rouleau GA (2016) ALS: recent Developments from Genetics Studies. Curr Neurol Neurosci Rep 16:59. doi:\n                    10.1007\/s11910-016-0658-1","journal-title":"Curr Neurol Neurosci Rep"},{"key":"1760_CR41","doi-asserted-by":"publisher","unstructured":"Wang YC, Liu HC, Liu TY, Hong CJ, Tsai SJ (2001) Genetic association analysis of alpha-1-antichymotrypsin polymorphism in Parkinson\u2019s disease. Eur Neurol 45:254\u2013256. doi:\n                    10.1159\/000052138","DOI":"10.1159\/000052138"},{"key":"1760_CR42","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu279","author":"Z Xi","year":"2014","unstructured":"Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG et al (2014) Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients. Hum Mol Genet. doi:\n                    10.1093\/hmg\/ddu279","journal-title":"Hum Mol Genet"},{"key":"1760_CR43","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1212\/WNL.0000000000000886","volume":"83","author":"Z Xi","year":"2014","unstructured":"Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D et al (2014) Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology 83:1476\u20131478. doi:\n                    10.1212\/WNL.0000000000000886","journal-title":"Neurology"},{"key":"1760_CR44","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1007\/s00401-015-1401-8","volume":"129","author":"Z Xi","year":"2015","unstructured":"Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P et al (2015) The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. Acta Neuropathol 129:715\u2013727. doi:\n                    10.1007\/s00401-015-1401-8","journal-title":"Acta Neuropathol"},{"key":"1760_CR45","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1016\/j.ajhg.2013.04.017","volume":"92","author":"Z Xi","year":"2013","unstructured":"Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C et al (2013) Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92:981\u2013989. doi:\n                    10.1016\/j.ajhg.2013.04.017","journal-title":"Am J Hum Genet"},{"key":"1760_CR46","doi-asserted-by":"publisher","first-page":"2423","DOI":"10.1091\/mbc.9.9.2423","volume":"9","author":"Q Zeng","year":"1998","unstructured":"Zeng Q, Subramaniam VN, Wong SH, Tang BL, Parton RG, Rea S et al (1998) A novel synaptobrevin\/VAMP homologous protein (VAMP5) is increased during in vitro myogenesis and present in the plasma membrane. Mol Biol Cell 9:2423\u20132437","journal-title":"Mol Biol Cell"},{"key":"1760_CR47","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 et al (2015) The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525:56\u201361. doi:\n                    10.1038\/nature14973","journal-title":"Nature"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-017-1760-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-017-1760-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-017-1760-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T12:47:28Z","timestamp":1589633248000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-017-1760-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,14]]},"references-count":47,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["1760"],"URL":"https:\/\/doi.org\/10.1007\/s00401-017-1760-4","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,14]]},"assertion":[{"value":"30 March 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 July 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2017","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":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}