{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:05:51Z","timestamp":1790795151952,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"name":"Italian Ministry of Health","award":["RF 2009-1473856"],"award-info":[{"award-number":["RF 2009-1473856"]}]},{"name":"Agenzia Italiana per la Ricerca sulla SLA","award":["NOVALS 2012"],"award-info":[{"award-number":["NOVALS 2012"]}]},{"name":"TELETHON"},{"DOI":"10.13039\/501100008591","name":"Fondazione Grigioni per il Morbo di Parkinson","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008591","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1016\/j.neurobiolaging.2013.09.037","type":"journal-article","created":{"date-parts":[[2013,10,2]],"date-time":"2013-10-02T14:34:17Z","timestamp":1380724457000},"page":"936.e13-936.e17","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["C9orf72 repeat expansions are restricted to the ALS-FTD spectrum"],"prefix":"10.1016","volume":"35","author":[{"given":"Nicola","family":"Ticozzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Tiloca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Calini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Gagliardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Altieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Colombrita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cereda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Ratti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Pezzoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Borroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Goldwurm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Silani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib1","doi-asserted-by":"crossref","first-page":"26","DOI":"10.3109\/17482968.2012.725415","article-title":"No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden","volume":"14","author":"Akimoto","year":"2013","journal-title":"Amyotroph. Lateral. Scler. Frontotemporal. Degener."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib2","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ana.21154","article-title":"TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease","volume":"61","author":"Amador-Ortiz","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib3","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1212\/WNL.0b013e31827f0fd1","article-title":"Criteria for the diagnosis of corticobasal degeneration","volume":"80","author":"Armstrong","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib4","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","article-title":"Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population","volume":"92","author":"Beck","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib5","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00401-012-1048-7","article-title":"Tau pathology in frontotemporal lobar degeneration with\u00a0C9ORF72 hexanucleotide repeat expansion","volume":"125","author":"Bieniek","year":"2013","journal-title":"Acta. Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib6","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/brain\/aws004","article-title":"Characterization of frontotemporal dementia and\/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72","volume":"135","author":"Boeve","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib7","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ana.23937","article-title":"Stages of pTDP-43 pathology in amyotrophic lateral sclerosis","volume":"74","author":"Brettschneider","year":"2013","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib8","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S1474-4422(12)70014-5","article-title":"Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study","volume":"11","author":"Byrne","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib9","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1093\/brain\/awr365","article-title":"Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72","volume":"135","author":"Cooper-Knock","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib10","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib11","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.parkreldis.2012.09.013","article-title":"Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome","volume":"19","author":"Dejesus-Hernandez","year":"2012","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib12","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(11)70261-7","article-title":"A\u00a0C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study","volume":"11","author":"Gijselinck","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib13","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1002\/mds.23200","article-title":"Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes","volume":"25","author":"Gilbert","year":"2010","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib14","doi-asserted-by":"crossref","first-page":"1519.e1","DOI":"10.1016\/j.neurobiolaging.2012.10.001","article-title":"Parkinson disease is not associated with C9ORF72 repeat expansions","volume":"34","author":"Harms","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib15","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/brain\/awr354","article-title":"Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p","volume":"135","author":"Hsiung","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib16","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jnnp.55.3.181","article-title":"Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases","volume":"55","author":"Hughes","year":"1992","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib17","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/brain\/aws357","article-title":"C9orf72 repeat expansions are a rare genetic cause of parkinsonism","volume":"136","author":"Lesage","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib18","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1399-0004.2012.01903.x","article-title":"Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease","volume":"83","author":"Lindquist","year":"2012","journal-title":"Clin Genet."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1212\/WNL.47.1.1","article-title":"Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop","volume":"47","author":"Litvan","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib20","doi-asserted-by":"crossref","first-page":"2527.e2521","DOI":"10.1016\/j.neurobiolaging.2012.05.007","article-title":"Large C9orf72 repeat expansions are not a common cause of Parkinson\u2019s disease","volume":"33","author":"Majounie","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib21","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1056\/NEJMc1113592","article-title":"Repeat expansion in C9ORF72 in Alzheimer's disease","volume":"366","author":"Majounie","year":"2012","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib22","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib23","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1097\/NEN.0b013e3181ee7d85","article-title":"TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy","volume":"69","author":"McKee","year":"2010","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib24","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib25","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/S0022-510X(99)00209-9","article-title":"Consensus guidelines for the design and implementation of clinical trials in ALS. World Federation of Neurology committee on Research","volume":"169","author":"Miller","year":"1999","journal-title":"J.\u00a0Neurol. Sci."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib26","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00401-007-0261-2","article-title":"Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases","volume":"114","author":"Nakashima-Yasuda","year":"2007","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib27","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib28","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/mds.25022","article-title":"C9ORF72 expansion in amyotrophic lateral sclerosis\/frontotemporal dementia also causes parkinsonism","volume":"27","author":"O\u2019Dowd","year":"2012","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib29","doi-asserted-by":"crossref","first-page":"2528.e2514","DOI":"10.1016\/j.neurobiolaging.2012.06.008","article-title":"C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect","volume":"33","author":"Ratti","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib30","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A\u00a0hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib31","doi-asserted-by":"crossref","first-page":"1846.e1845","DOI":"10.1016\/j.neurobiolaging.2012.01.109","article-title":"Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease","volume":"33","author":"Rollinson","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib32","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awr353","article-title":"The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions","volume":"135","author":"Simon-Sanchez","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib33","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/brain\/awr355","article-title":"Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations","volume":"135","author":"Snowden","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2013.09.037_bib34","first-page":"1311.e1313","article-title":"Screening for C9orf72 repeat expansions in parkinsonian syndromes","volume":"34","author":"Yeh","year":"2012","journal-title":"Neurobiol Aging"}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458013004491?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458013004491?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:23:59Z","timestamp":1759317839000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458013004491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["S0197458013004491"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2013.09.037","relation":{},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"C9orf72 repeat expansions are restricted to the ALS-FTD spectrum","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2013.09.037","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}