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5. Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Neurology; 2023 Jan 31; 100(5):e543-e554. PubMed ID: 36289003 [Abstract] [Full Text] [Related]
7. Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Brain; 2022 Apr 29; 145(3):1139-1150. PubMed ID: 35355059 [Abstract] [Full Text] [Related]
13. Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS). Dupré M, Hermann R, Froment Tilikete C. Cerebellum; 2021 Oct 01; 20(5):687-700. PubMed ID: 33011895 [Abstract] [Full Text] [Related]
14. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects. Cortese A, Curro' R, Vegezzi E, Yau WY, Houlden H, Reilly MM. Pract Neurol; 2022 Feb 01; 22(1):14-18. PubMed ID: 34389644 [Abstract] [Full Text] [Related]
18. Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Fernandez-Rueda M, García-Fernández A, Vergas-Gutiérrez JJ. J Int Adv Otol; 2023 Oct 01; 19(5):383-387. PubMed ID: 37789624 [Abstract] [Full Text] [Related]
19. Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia. Van Daele SH, Vermeer S, Van Eesbeeck A, Lannoo L, Race V, van Damme P, Claeys K, Vandenberghe W. J Neurol Neurosurg Psychiatry; 2020 Nov 01; 91(11):1233-1234. PubMed ID: 32732387 [No Abstract] [Full Text] [Related]
20. CANVAS, a sensory neuronopathy to look for in ataxia. Méreaux JL, Grangeon L, Bédat-Millet AL, Guyant-Maréchal L. Rev Neurol (Paris); 2023 Oct 01; 179(8):910-913. PubMed ID: 37301658 [Abstract] [Full Text] [Related] Page: [Next] [New Search]