{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:45:02Z","timestamp":1790775902452,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"TELETHON Italy"},{"DOI":"10.13039\/501100008591","name":"Fondazione Grigioni per il Morbo di Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008591","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Ministry of Health","award":["GR-2013-02357821"],"award-info":[{"award-number":["GR-2013-02357821"]}]},{"name":"Italian Ministry of Health","award":["RF-2011-02347420"],"award-info":[{"award-number":["RF-2011-02347420"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience Letters"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1016\/j.neulet.2018.04.044","type":"journal-article","created":{"date-parts":[[2018,4,30]],"date-time":"2018-04-30T05:45:40Z","timestamp":1525067140000},"page":"37-42","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients"],"prefix":"10.1016","volume":"678","author":[{"given":"Alessia","family":"Mongelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Sarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Nanetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Meucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Pezzoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Goldwurm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2405-3564","authenticated-orcid":false,"given":"Caterina","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neulet.2018.04.044_bib0005","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nrneurol.2017.26","article-title":"Multiple system atrophy: insights into a rare and debilitating movement disorder","volume":"13","author":"Krismer","year":"2017","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0010","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s00702-013-1133-7","article-title":"Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival","volume":"121","author":"Roncevic","year":"2014","journal-title":"J. Neural Transm."},{"key":"10.1016\/j.neulet.2018.04.044_bib0015","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.parkreldis.2015.11.005","article-title":"Genome-wide estimate of the heritability of Multiple System Atrophy","volume":"22","author":"Federoff","year":"2016","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neulet.2018.04.044_bib0020","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1212\/WNL.0000000000000965","article-title":"Should genetic testing for SCAs be included in the diagnostic workup for MSA?","volume":"83","author":"Kim","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2018.04.044_bib0025","doi-asserted-by":"crossref","first-page":"S12","DOI":"10.1016\/j.parkreldis.2015.09.003","article-title":"Multiple system atrophy-mimicking conditions: diagnostic challenges","volume":"22","author":"Kim","year":"2016","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neulet.2018.04.044_bib0030","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2018.04.044_bib0035","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1038\/ejhg.2010.10","article-title":"Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias","volume":"18","author":"Sequeiros","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2018.04.044_bib0040","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/ejhg.2012.200","article-title":"EMQN\/CMGS best practice guidelines for the molecular genetic testing of Huntington disease","volume":"21","author":"Losekoot","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2018.04.044_bib0045","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/sj.ejhg.5200788","article-title":"Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles","volume":"10","author":"Z\u00fchlke","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2018.04.044_bib0050","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1001\/archneur.59.4.623","article-title":"Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus","volume":"59","author":"Silveira","year":"2002","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0055","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1212\/WNL.0000000000002016","article-title":"Large-scale assessment of polyglutamine repeat expansions in Parkinson disease","volume":"85","author":"Wang","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.neulet.2018.04.044_bib0060","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1086\/302067","article-title":"Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations","volume":"63","author":"Takano","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2018.04.044_bib0065","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1093\/brain\/awu174","article-title":"Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes","volume":"137","author":"Du Montcel","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.neulet.2018.04.044_bib0070","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(15)00058-7","article-title":"Natural history of multiple system atrophy in the USA: a prospective cohort study","volume":"14","author":"Low","year":"2015","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0075","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/S1474-4422(12)70327-7","article-title":"The natural history of multiple system atrophy: a prospective European cohort study","volume":"12","author":"Wenning","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0080","doi-asserted-by":"crossref","first-page":"472","DOI":"10.3389\/fneur.2017.00472","article-title":"Spinocerebellar ataxia type 2: Clinicogenetic aspects, mechanistic insights, and management approaches","volume":"8","author":"Vel\u00e1zquez-P\u00e9rez","year":"2017","journal-title":"Front. Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0085","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1001\/archneur.64.10.1510","article-title":"Importance of low-range CAG expansion and CAA interruption in SCA2 parkinsonism","volume":"64","author":"Kim","year":"2007","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neulet.2018.04.044_bib0090","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.neurobiolaging.2016.11.010","article-title":"ATXN2 trinucleotide repeat length correlates with risk of ALS","volume":"51","author":"Sproviero","year":"2017","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neulet.2018.04.044_bib0095","doi-asserted-by":"crossref","first-page":"3207","DOI":"10.1093\/hmg\/ddr227","article-title":"Ataxin-2 repeat-length variation and neurodegeneration","volume":"20","author":"Ross","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neulet.2018.04.044_bib0100","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1001\/archneur.61.5.727","article-title":"Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG\/CTG repeat expansion detection in 225 Italian families","volume":"61","author":"Brusco","year":"2004","journal-title":"Arch. Neurol."}],"container-title":["Neuroscience Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394018303070?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394018303070?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T20:21:56Z","timestamp":1759609316000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304394018303070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":20,"alternative-id":["S0304394018303070"],"URL":"https:\/\/doi.org\/10.1016\/j.neulet.2018.04.044","relation":{},"ISSN":["0304-3940"],"issn-type":[{"value":"0304-3940","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients","name":"articletitle","label":"Article Title"},{"value":"Neuroscience Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neulet.2018.04.044","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}