{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T02:29:58Z","timestamp":1791772198196,"version":"4.3.4"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T00:00:00Z","timestamp":1704758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/T001712\/1"],"award-info":[{"award-number":["MR\/T001712\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","award":["2019-1836"],"award-info":[{"award-number":["2019-1836"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Inherited Neuropathy Consortium, and Fondazione Regionale per la Ricerca Biomedica","award":["1751723"],"award-info":[{"award-number":["1751723"]}]},{"name":"European Academy of Neurology (EAN) Research Fellowship 2021"},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022720","name":"Fondazione Regionale per la Ricerca Biomedica","doi-asserted-by":"publisher","award":["CP 20\/2018"],"award-info":[{"award-number":["CP 20\/2018"]}],"id":[{"id":"10.13039\/501100022720","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Joint Programme on Rare Diseases"},{"name":"Medical Research Council Mitochondrial Biology Unit"},{"name":"Medical Research Council"},{"name":"International Centre for Genomic Medicine in Neuromuscular Disease, the Leverhulme Trust","award":["RPG-2018-408"],"award-info":[{"award-number":["RPG-2018-408"]}]},{"name":"Medical Research Council, the Alzheimer's Society Project"},{"name":"NIHR Cambridge Biomedical Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat.<\/jats:p>\n                  <jats:p>In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson\u2019s coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases.<\/jats:p>\n                  <jats:p>A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P &amp;lt; 0.001; larger allele HR = 1.53, P &amp;lt; 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P &amp;lt; 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P &amp;lt; 0.001; larger allele HR = 1.60; P &amp;lt; 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P &amp;lt; 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I\u2013V \u03b2 = \u22121.06, P &amp;lt; 0.001; lobules VI\u2013VII \u03b2 = \u22120.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions.<\/jats:p>\n                  <jats:p>RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion.<\/jats:p>","DOI":"10.1093\/brain\/awad436","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T09:17:34Z","timestamp":1704705454000},"page":"1887-1898","source":"Crossref","is-referenced-by-count":34,"title":["Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease"],"prefix":"10.1093","volume":"147","author":[{"given":"Riccardo","family":"Curr\u00f2","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Dominik","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Facchini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Vegezzi","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roisin","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7123-8011","authenticated-orcid":false,"given":"Valentina","family":"Galassi Deforie","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"additional","affiliation":[{"name":"Nord\/Est\/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-5898","authenticated-orcid":false,"given":"Andreas","family":"Trasch\u00fctz","sequence":"additional","affiliation":[{"name":"Research Division \u2018Translational Genomics of Neurodegenerative Diseases\u2019, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Rossi","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS , 00168 Rome , Italy"},{"name":"Facolt\u00e0 di Medicina e Chirurgia, Dipartimento di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , 00168 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1830-2886","authenticated-orcid":false,"given":"Matteo","family":"Garibaldi","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome , 00189 Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariusz","family":"Kwarciany","sequence":"additional","affiliation":[{"name":"Department of Adult Neurology, Medical University of Gda\u0144sk , 80-952 Gda\u0144sk , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2420-5233","authenticated-orcid":false,"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-7231","authenticated-orcid":false,"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Torino , 10124 Turin , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Good","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital (CHUV) , 1011 Lausanne , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), Italian National Research Council (CNR) , 87050 Mangone , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Hammans","sequence":"additional","affiliation":[{"name":"Wessex Neurological Centre, Southampton General Hospital , Southampton, SO16 6YD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia , Nedland, WA 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H","family":"Roxburgh","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, New Zealand and the Centre for Brain Research, University of Auckland , Auckland 1142 , New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"RFC1 repeat expansion study group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s","family":"Alb\u00e1jar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ashton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Beauchamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J","family":"Beecroft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Bellone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e8","family":"Berciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petya","family":"Bogdanova-Mihaylova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Borroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bugiardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisling","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Cavallaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Colnaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Cosentino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Damasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Devigili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Di Bella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Dick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar","family":"El-Saddig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Faber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moreno","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraint","family":"Fuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Gallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gemelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Grandis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Channa","family":"Hewamadduma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Huin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Imperiale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Iruzubieta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Kaski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klockgether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00fcge","family":"Ko\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishore R","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Kuntzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel","family":"Laing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laur\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Lavin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter Nigel","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Leonardis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P","family":"Lunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Magrinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jo\u00e3o","family":"Malaquias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelangelo","family":"Mancuso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadi","family":"Manji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Massucco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"McConville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato P","family":"Munhoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Ndayisaba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Hilary","family":"Nemeth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Eduardo","family":"Novis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Perrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pisciotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Polke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Proudfoot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Orsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Radunovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilo","family":"Riva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiko","family":"Robert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Ronco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rossini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex M","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmak","family":"\u015eahbaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qais","family":"Sa\u2019di","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Salsano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Salvalaggio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Santoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Sarto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Schenone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Scriba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Strupp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte J","family":"Sumner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Szymura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Tagliapietra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Tassorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Theaudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Tomaselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Versino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick W","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Way Yan","family":"Yau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Parolin Schnekenberg","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Rugginini","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0797-8282","authenticated-orcid":false,"given":"Elena","family":"Abati","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"},{"name":"Department of Pathophysiology and Transplantation, University of Milan , 20122 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Manini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"},{"name":"Department of Pathophysiology and Transplantation, University of Milan , 20122 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Quartesan","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Ghia","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"L\u00f2pez de Muna\u00ecn","sequence":"additional","affiliation":[{"name":"Neurology Department, Donostia University Hospital, University of the Basque Country-Osakidetza-CIBERNED-Biodonostia , 20014 Donostia-San Sebasti\u00e1n , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II , 80131 Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kennerson","sequence":"additional","affiliation":[{"name":"Sydney Medical School, Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2050 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit , 56128 Pisa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Infante","sequence":"additional","affiliation":[{"name":"University Hospital Marqu\u00e8s de Valdecilla-IDIVAL, University of Cantabria , 39008 Santander , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo , 2650 Ribeir\u00e3o Preto , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital , 33520 Tampere , Finland"},{"name":"Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku , 20014 Turku , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sin\u00e9ad M","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital , D24 NR0A Dublin , Ireland"},{"name":"Academic Unit of Neurology, Trinity College Dublin , D02 R590 Dublin , Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Mandich","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa , 16132 Genoa , Italy"},{"name":"IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica , 16132 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Maria","family":"Fabrizi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona , 37134 Verona , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Briani","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, ERN Neuromuscular Unit, University of Padova , 35100 Padova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gosal","sequence":"additional","affiliation":[{"name":"Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust , Greater Manchester, M6 8HD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-765X","authenticated-orcid":false,"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Ferrari","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7872-0142","authenticated-orcid":false,"given":"Ferran","family":"Prados","sequence":"additional","affiliation":[{"name":"Centre for Medical Image Computing (CMIC), Department of Medical Physics and Biomedical Engineering, University College London , London, WC1V 6LJ , UK"},{"name":"NMR Research Unit, Institute of Neurology, University College London (UCL) , London, WC1N 3BG , UK"},{"name":"e-Health Centre, Universitat Oberta de Catalunya , 08018 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"Yousry","sequence":"additional","affiliation":[{"name":"Neuroradiological Academic Unit, Queen Square Institute of Neurology, University College London , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram","family":"Khurana","sequence":"additional","affiliation":[{"name":"Division of Movement Disorders and Ann Romney Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School , Boston, MA 02115 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng-Han","family":"Kuo","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons, Columbia University , New York, NY 10032 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal Victoria Hospitals, The Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle, NE1 4LP , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Troakes","sequence":"additional","affiliation":[{"name":"London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London , London, SE21 8EA , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3508-4788","authenticated-orcid":false,"given":"Paola","family":"Giunti","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Division of General Psychiatry, Medical University of Vienna , 1090 Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazli","family":"Basak","sequence":"additional","affiliation":[{"name":"Ko\u00e7 University, School of Medicine, Suna and \u0130nan K\u0131ra\u00e7 Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine , 34010 Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-7273","authenticated-orcid":false,"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"Research Division \u2018Translational Genomics of Neurodegenerative Diseases\u2019, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Nord\/Est\/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Hadjivassiliou","sequence":"additional","affiliation":[{"name":"Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield , Sheffield, S10 2JF , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-905X","authenticated-orcid":false,"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,9]]},"reference":[{"key":"2024050317033660800_awad436-B1","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1128\/MMBR.00011-08","article-title":"Comparative genomics and molecular dynamics of DNA repeats in eukaryotes","volume":"72","author":"Richard","year":"2008","journal-title":"Microbiol Mol Biol Rev"},{"key":"2024050317033660800_awad436-B2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/B978-0-444-63233-3.00009-9","article-title":"Repeat expansion diseases","volume":"147","author":"Paulson","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"2024050317033660800_awad436-B3","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1146\/annurev.neuro.29.051605.113042","article-title":"Trinucleotide repeat disorders","volume":"30","author":"Orr","year":"2007","journal-title":"Annu Rev Neurosci"},{"key":"2024050317033660800_awad436-B4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/nrg.2017.115","article-title":"Tandem repeats mediating genetic plasticity in health and disease","volume":"19","author":"Hannan","year":"2018","journal-title":"Nat Rev Genet"},{"key":"2024050317033660800_awad436-B5","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S1474-4422(21)00462-2","article-title":"Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: A retrospective diagnostic accuracy and prospective clinical validation study","volume":"21","author":"Iba\u00f1ez","year":"2022","journal-title":"Lancet Neurol"},{"key":"2024050317033660800_awad436-B6","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/j.ajhg.2021.03.011","article-title":"30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?","volume":"108","author":"Depienne","year":"2021","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B7","doi-asserted-by":"crossref","first-page":"104515","DOI":"10.1016\/j.nbd.2019.104515","article-title":"New pathologic mechanisms in nucleotide repeat expansion disorders","volume":"130","author":"Rodriguez","year":"2019","journal-title":"Neurobiol Dis"},{"key":"2024050317033660800_awad436-B8","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1086\/421526","article-title":"Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10","volume":"74","author":"Matsuura","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B9","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1074\/jbc.REV119.007678","article-title":"On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability","volume":"295","author":"Khristich","year":"2020","journal-title":"J Biol Chem"},{"key":"2024050317033660800_awad436-B10","doi-asserted-by":"crossref","first-page":"e0189990","DOI":"10.1371\/journal.pone.0189990","article-title":"Somatic instability of the expanded GAA repeats in Friedreich\u2019s ataxia","volume":"12","author":"Long","year":"2017","journal-title":"PLoS One"},{"key":"2024050317033660800_awad436-B11","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1093\/hmg\/dds185","article-title":"Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity","volume":"21","author":"Morales","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2024050317033660800_awad436-B12","doi-asserted-by":"crossref","first-page":"3039","DOI":"10.1093\/hmg\/ddp242","article-title":"Somatic expansion of the Huntington\u2019s disease CAG repeat in the brain is associated with an earlier age of disease onset","volume":"18","author":"Swami","year":"2009","journal-title":"Hum Mol Genet"},{"key":"2024050317033660800_awad436-B13","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1093\/hmg\/ddv064","article-title":"Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD","volume":"24","author":"Nordin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024050317033660800_awad436-B14","first-page":"554","article-title":"The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia","volume":"59","author":"Filla","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B15","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich\u2019s ataxia","volume":"335","author":"D\u00fcrr","year":"1996","journal-title":"N Engl J Med"},{"key":"2024050317033660800_awad436-B16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1212\/NXG.0000000000000155","article-title":"Genetic analysis of age at onset variation in spinocerebellar ataxia type 2","volume":"3","author":"Figueroa","year":"2017","journal-title":"Neurol Genet"},{"key":"2024050317033660800_awad436-B17","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/hmg\/7.2.171","article-title":"Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation","volume":"7","author":"Johansson","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2024050317033660800_awad436-B18","first-page":"959","article-title":"Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I","volume":"54","author":"Jodice","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B19","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng0793-221","article-title":"Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1","volume":"4","author":"Orr","year":"1993","journal-title":"Nat Genet"},{"key":"2024050317033660800_awad436-B20","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1212\/WNL.45.1.143","article-title":"DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation","volume":"45","author":"Komure","year":"1995","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B21","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"2024050317033660800_awad436-B22","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1212\/WNL.0000000000003554","article-title":"Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy","volume":"88","author":"Richard","year":"2017","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B23","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat Genet"},{"key":"2024050317033660800_awad436-B24","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.ajhg.2019.05.016","article-title":"Bioinformatics-based identification of expanded repeats: A non-reference intronic pentamer expansion in RFC1 causes CANVAS","volume":"105","author":"Rafehi","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.parkreldis.2020.02.017","article-title":"No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA","volume":"73","author":"Fan","year":"2020","journal-title":"Park Relat Disord"},{"key":"2024050317033660800_awad436-B26","doi-asserted-by":"crossref","first-page":"e440","DOI":"10.1212\/NXG.0000000000000440","article-title":"Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort","volume":"6","author":"Aboud Syriani","year":"2020","journal-title":"Neurol Genet"},{"key":"2024050317033660800_awad436-B27","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3389\/fgene.2019.01219","article-title":"Investigation of the RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: Identification of novel conformations","volume":"10","author":"Ak\u00e7imen","year":"2019","journal-title":"Front Genet"},{"key":"2024050317033660800_awad436-B28","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1038\/s10038-020-0807-x","article-title":"RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia","volume":"65","author":"Tsuchiya","year":"2020","journal-title":"J Hum Genet"},{"key":"2024050317033660800_awad436-B29","doi-asserted-by":"crossref","first-page":"e1369-e1382","DOI":"10.1212\/WNL.0000000000011528","article-title":"Natural history, phenotypic Spectrum, and discriminative features of multisystemic RFC1 disease","volume":"96","author":"Trasch\u00fctz","year":"2021","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B30","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1093\/brain\/awaa203","article-title":"A M\u0101ori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele","volume":"143","author":"Beecroft","year":"2020","journal-title":"Brain"},{"key":"2024050317033660800_awad436-B31","doi-asserted-by":"crossref","first-page":"2904","DOI":"10.1093\/brain\/awaa263","article-title":"A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families","volume":"143","author":"Scriba","year":"2020","journal-title":"Brain"},{"key":"2024050317033660800_awad436-B32","doi-asserted-by":"crossref","first-page":"e543-554","DOI":"10.1212\/WNL.0000000000201486","article-title":"Truncating variants in RFC1 in cerebellar ataxia, neuropathy, and vestibular areflexia syndrome","volume":"100","author":"Ronco","year":"2023","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B33","doi-asserted-by":"crossref","first-page":"3770","DOI":"10.1093\/brain\/awac280","article-title":"RFC1 nonsense and frameshift variants cause CANVAS: Clues for an unsolved pathophysiology","volume":"145","author":"Benkirane","year":"2022","journal-title":"Brain"},{"key":"2024050317033660800_awad436-B34","doi-asserted-by":"crossref","first-page":"e200036","DOI":"10.1212\/NXG.0000000000200036","article-title":"Whole-Genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome","volume":"8","author":"King","year":"2022","journal-title":"Neurol Genet"},{"key":"2024050317033660800_awad436-B35","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/cge.14249","article-title":"New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene","volume":"103","author":"Arteche-L\u00f3pez","year":"2023","journal-title":"Clin Genet"},{"key":"2024050317033660800_awad436-B36","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1093\/brain\/awab072","article-title":"RFC1 expansions are a common cause of idiopathic sensory neuropathy","volume":"144","author":"Curr\u00f2","year":"2021","journal-title":"Brain"},{"key":"2024050317033660800_awad436-B37","doi-asserted-by":"crossref","first-page":"4280","DOI":"10.1007\/s00415-021-10552-3","article-title":"RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy","volume":"268","author":"Tagliapietra","year":"2021","journal-title":"J Neurol"},{"key":"2024050317033660800_awad436-B38","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1093\/brain\/awz418","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion","volume":"143","author":"Cortese","year":"2020","journal-title":"Brain"},{"key":"2024050317033660800_awad436-B39","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1212\/01.WNL.0000149522.32823.EA","article-title":"Distal symmetric polyneuropathy: A definition for clinical research\u2014Report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation","volume":"64","author":"England","year":"2005","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B40","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1212\/WNL.0000000000010988","article-title":"Idiopathic distal sensory polyneuropathy: ACTTION diagnostic criteria","volume":"95","author":"Freeman","year":"2020","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B41","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1212\/CPJ.0000000000000215","article-title":"Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)","volume":"6","author":"Szmulewicz","year":"2016","journal-title":"Neurol Clin Pract"},{"key":"2024050317033660800_awad436-B42","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1136\/practneurol-2020-002822","article-title":"Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): Genetic and clinical aspects","volume":"22","author":"Cortese","year":"2022","journal-title":"Pract Neurol"},{"key":"2024050317033660800_awad436-B43","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1109\/TMI.2015.2418298","article-title":"Geodesic information flows: Spatially-variant graphs and their application to segmentation and fusion","volume":"34","author":"Cardoso","year":"2015","journal-title":"IEEE Trans Med Imaging"},{"key":"2024050317033660800_awad436-B44","author":"Prados"},{"key":"2024050317033660800_awad436-B45","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fnins.2012.00171","article-title":"101 labeled brain images and a consistent human cortical labeling protocol","volume":"6","author":"Klein","year":"2012","journal-title":"Front Neurosci"},{"key":"2024050317033660800_awad436-B46","doi-asserted-by":"crossref","first-page":"6086","DOI":"10.1007\/s00415-022-11275-9","article-title":"Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia","volume":"269","author":"Ghorbani","year":"2022","journal-title":"J Neurol"},{"key":"2024050317033660800_awad436-B47","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1136\/jmedgenet-2019-106078","article-title":"Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)","volume":"57","author":"Dai","year":"2020","journal-title":"J Med Genet"},{"key":"2024050317033660800_awad436-B48","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/S1474-4422(13)70210-2","article-title":"Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study","volume":"12","author":"van Blitterswijk","year":"2013","journal-title":"Lancet Neurol"},{"key":"2024050317033660800_awad436-B49","author":"Eurostat"},{"issue":"5\u20136","key":"2024050317033660800_awad436-B50","doi-asserted-by":"crossref","first-page":"310","DOI":"10.3109\/17482960802566824","article-title":"Prognostic factors in ALS: A critical review","volume":"10","author":"Chi\u00f2","year":"2009","journal-title":"Amyotroph Lateral Scler"},{"key":"2024050317033660800_awad436-B51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12883-021-02187-8","article-title":"Prediction of survival in amyotrophic lateral sclerosis: A nationwide, Danish cohort study","volume":"21","author":"Kj\u00e6ldgaard","year":"2021","journal-title":"BMC Neurol"},{"key":"2024050317033660800_awad436-B52","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S1474-4422(18)30089-9","article-title":"Prognosis for patients with amyotrophic lateral sclerosis: Development and validation of a personalised prediction model","volume":"17","author":"Westeneng","year":"2018","journal-title":"Lancet Neurol"},{"key":"2024050317033660800_awad436-B53","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1001\/jamaneurol.2019.3924","article-title":"Survival and prognostic factors in C9orf72 repeat expansion carriers: A systematic review and meta-analysis","volume":"77","author":"Glasmacher","year":"2020","journal-title":"JAMA Neurol"},{"key":"2024050317033660800_awad436-B54","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1212\/WNL.0000000000000352","article-title":"Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS","volume":"82","author":"Szmulewicz","year":"2014","journal-title":"Neurology"},{"key":"2024050317033660800_awad436-B55","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1749-6632.2011.06158.x","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): A review of the clinical features and video-oculographic diagnosis","volume":"1233","author":"Szmulewicz","year":"2011","journal-title":"Ann N Y Acad Sci"},{"key":"2024050317033660800_awad436-B56","first-page":"593","article-title":"Anticipation and instability of IT-15 (CAG)(N) repeats in parent-offspring pairs with Huntington disease","volume":"57","author":"Ranen","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2024050317033660800_awad436-B57","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/ng0893-387","article-title":"Trinucleotide repeat length instability and age of onset in Huntington\u2019s disease","volume":"4","author":"Duyao","year":"1993","journal-title":"Nat Genet"},{"key":"2024050317033660800_awad436-B58","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1126\/science.1546326","article-title":"An unstable triplet repeat in a gene related to myotonic muscular dystrophy","volume":"255","author":"Fu","year":"1992","journal-title":"Science"},{"key":"2024050317033660800_awad436-B59","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1002\/ajmg.a.61165","article-title":"Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles","volume":"179","author":"Nolin","year":"2019","journal-title":"Am J Med Genet Part A"},{"key":"2024050317033660800_awad436-B60","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awad436\/57319513\/awad436.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/5\/1887\/57397324\/awad436.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/5\/1887\/57397324\/awad436.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T13:04:56Z","timestamp":1714741496000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/147\/5\/1887\/7513227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,9]]},"references-count":60,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,1,9]]},"published-print":{"date-parts":[[2024,5,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awad436","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.10.15.23297048","asserted-by":"object"}]},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,5]]},"published":{"date-parts":[[2024,1,9]]}}}