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PUBMED FOR HANDHELDS

Journal Abstract Search


223 related items for PubMed ID: 36343928

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  • 3. RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
    Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R.
    J Neurol Sci; 2023 Mar 15; 446():120565. PubMed ID: 36753892
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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
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  • 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
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  • 10. Bilateral vestibulopathy as the initial presentation of CANVAS.
    Gordon CR, Zaltzman R, Geisinger D, Elyoseph Z, Gimmon Y.
    J Neurol Sci; 2024 May 15; 460():122990. PubMed ID: 38579416
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  • 11. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
    Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM.
    Brain; 2020 Feb 01; 143(2):480-490. PubMed ID: 32040566
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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