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Journal Abstract Search

153 related items for PubMed ID: 36426838

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  • 3. [Current status and future prospects of research on Fukuyama muscular dystrophy].
    Toda T.
    Nihon Rinsho; 2015 Aug; 73(8):1425-36. PubMed ID: 26281700
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  • 6. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
    Blázquez L, Aiastui A, Goicoechea M, Martins de Araujo M, Avril A, Beley C, García L, Valcárcel J, Fortes P, López de Munain A.
    Hum Mutat; 2013 Oct; 34(10):1387-95. PubMed ID: 23864287
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  • 9. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan; 21(1):20-30. PubMed ID: 20961758
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  • 10. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
    Murakami T, Nishino I.
    Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603
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  • 11. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM.
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
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  • 12. National registry of patients with Fukuyama congenital muscular dystrophy in Japan.
    Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M.
    Neuromuscul Disord; 2018 Oct; 28(10):885-893. PubMed ID: 30220444
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  • 13. A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
    Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I.
    Neuromuscul Disord; 2013 Jul; 23(7):557-61. PubMed ID: 23582336
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  • 14. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
    Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH.
    Neuromuscul Disord; 2010 Aug; 20(8):524-30. PubMed ID: 20620061
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  • 15. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
    Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T.
    J Biol Chem; 2012 Mar 09; 287(11):8398-406. PubMed ID: 22275357
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  • 16. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
    Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH.
    Ann Clin Transl Neurol; 2019 Apr 09; 6(4):642-654. PubMed ID: 31019989
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  • 17. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
    Maruyama R, Yokota T.
    Methods Mol Biol; 2018 Apr 09; 1828():79-90. PubMed ID: 30171536
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  • 19. Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
    Aguti S, Guirguis F, Bönnemann C, Muntoni F, Bolduc V, Zhou H.
    Methods Mol Biol; 2023 Apr 09; 2587():387-407. PubMed ID: 36401040
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  • 20. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
    Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.
    Genet Med; 2019 Aug 09; 21(8):1751-1760. PubMed ID: 30643219
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