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Journal Abstract Search

243 related items for PubMed ID: 32732387

  • 1. 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; 91(11):1233-1234. PubMed ID: 32732387
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  • 2. Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.
    Calezis C, Bonello-Palot N, Verschueren A, Azulay JP, Fortanier E, Grapperon AM, Kouton L, Gallard J, Salort-Campana E, Attarian S, Delmont E.
    Muscle Nerve; 2024 Nov; 70(5):1046-1052. PubMed ID: 39286915
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  • 4. [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].
    Miyatake S, Matsumoto N.
    Brain Nerve; 2022 Nov; 74(11):1247-1256. PubMed ID: 36343928
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  • 9. Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.
    Kontogeorgiou Z, Kartanou C, Tsirligkani C, Anagnostou E, Rentzos M, Stefanis L, Karadima G, Koutsis G.
    Clin Genet; 2021 Jul; 100(1):90-94. PubMed ID: 33745133
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  • 11. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.
    Çakar A, Şahin E, Tezel S, Candayan A, Samancı B, Battaloğlu E, Başak AN, Bilgiç B, Hanağası H, Durmuş H, Parman Y.
    Acta Neurol Belg; 2022 Aug; 122(4):939-945. PubMed ID: 34101140
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  • 12. 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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  • 13. 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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  • 15. [Subacute ataxia associated with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)].
    Yacovino DA, Gomez A, Mayer MB, Fay F.
    Medicina (B Aires); 2024 May 15; 84(3):555-559. PubMed ID: 38907973
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  • 16. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
    Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC.
    Brain; 2022 Nov 21; 145(11):3770-3775. PubMed ID: 35883251
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