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Pubmed for Handhelds

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Journal Abstract Search

239 related items for PubMed ID: 35883251

  • 1. 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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  • 5. 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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  • 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 29; 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 29; 122(4):939-945. PubMed ID: 34101140
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  • 17. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
    Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C.
    J Neurol; 2021 Sep 29; 268(9):3337-3343. PubMed ID: 33666721
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