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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1997 1
1998 1
2000 3
2002 3
2003 2
2004 5
2005 1
2006 1
2008 1
2010 2
2011 3
2012 1
2013 2
2014 4
2015 3
2016 3
2017 9
2018 9
2019 6
2020 12
2021 1
2022 1
2023 1

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PubMed (Bookshelf cited) for id: 482853

68 results

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Page 1
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Scriba CK, et al. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263. Brain. 2020. PMID: 33103729 Free PMC article.
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Cortese A, et al. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17. J Neurol Neurosurg Psychiatry. 2020. PMID: 32943585 Free PMC article. No abstract available.
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
Wan L, Chen Z, Wan N, Liu M, Xue J, Chen H, Zhang Y, Peng Y, Tang Z, Gong Y, Yuan H, Wang S, Deng Q, Hou X, Wang C, Peng H, Shi Y, Peng L, Lei L, Duan R, Xia K, Qiu R, Shen L, Tang B, Ashizawa T, Jiang H. Wan L, et al. Ann Neurol. 2020 Dec;88(6):1132-1143. doi: 10.1002/ana.25902. Epub 2020 Oct 3. Ann Neurol. 2020. PMID: 32939785
Vestibular impairment in Charcot-Marie-Tooth disease.
Akdal G, Koçoğlu K, Tanrıverdizade T, Bora E, Bademkıran F, Yüceyar AN, Ekmekçi Ö, Şengün İŞ, Karasoy H. Akdal G, et al. J Neurol. 2021 Feb;268(2):526-531. doi: 10.1007/s00415-020-10186-x. Epub 2020 Aug 30. J Neurol. 2021. PMID: 32862243
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. Aboud Syriani D, et al. Neurol Genet. 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582864 Free PMC article.
68 results