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Journal Abstract Search

254 related items for PubMed ID: 19953532

  • 1. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.
    Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforêt P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Lévy N.
    Hum Mutat; 2010 Feb; 31(2):136-42. PubMed ID: 19953532
    [Abstract] [Full Text] [Related]

  • 2. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
    Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.
    Hum Mutat; 2006 Jun; 27(6):599-600. PubMed ID: 16705711
    [Abstract] [Full Text] [Related]

  • 3. Therapeutic exon skipping for dysferlinopathies?
    Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM.
    Eur J Hum Genet; 2010 Aug; 18(8):889-94. PubMed ID: 20145676
    [Abstract] [Full Text] [Related]

  • 4. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy.
    Aartsma-Rus A, Janson AA, van Ommen GJ, van Deutekom JC.
    BMC Med Genet; 2007 Jul 05; 8():43. PubMed ID: 17612397
    [Abstract] [Full Text] [Related]

  • 5. By-passing the nonsense mutation in the 4 CV mouse model of muscular dystrophy by induced exon skipping.
    Mitrpant C, Fletcher S, Iversen PL, Wilton SD.
    J Gene Med; 2009 Jan 05; 11(1):46-56. PubMed ID: 19006096
    [Abstract] [Full Text] [Related]

  • 6. In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping.
    Heemskerk HA, de Winter CL, de Kimpe SJ, van Kuik-Romeijn P, Heuvelmans N, Platenburg GJ, van Ommen GJ, van Deutekom JC, Aartsma-Rus A.
    J Gene Med; 2009 Mar 05; 11(3):257-66. PubMed ID: 19140108
    [Abstract] [Full Text] [Related]

  • 7. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
    Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N.
    Hum Mutat; 2005 Aug 05; 26(2):165. PubMed ID: 16010686
    [Abstract] [Full Text] [Related]

  • 8. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene.
    Errington SJ, Mann CJ, Fletcher S, Wilton SD.
    J Gene Med; 2003 Jun 05; 5(6):518-27. PubMed ID: 12797117
    [Abstract] [Full Text] [Related]

  • 9. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.
    Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I.
    Hum Mol Genet; 2010 May 15; 19(10):1897-907. PubMed ID: 20154340
    [Abstract] [Full Text] [Related]

  • 10. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.
    Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT.
    Hum Mutat; 2009 Mar 15; 30(3):293-9. PubMed ID: 19156838
    [Abstract] [Full Text] [Related]

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  • 12. 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 15; 63(1):81-9. PubMed ID: 18059005
    [Abstract] [Full Text] [Related]

  • 13. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
    Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.
    J Hum Genet; 2010 Aug 15; 55(8):546-9. PubMed ID: 20535123
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  • 15. Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells.
    Meregalli M, Navarro C, Sitzia C, Farini A, Montani E, Wein N, Razini P, Beley C, Cassinelli L, Parolini D, Belicchi M, Parazzoli D, Garcia L, Torrente Y.
    FEBS J; 2013 Dec 15; 280(23):6045-60. PubMed ID: 24028392
    [Abstract] [Full Text] [Related]

  • 16. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
    Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.
    Hum Mutat; 2007 Feb 15; 28(2):196-202. PubMed ID: 17041910
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  • 18. Terminal antisense oligonucleotide modifications can enhance induced exon skipping.
    Gebski BL, Errington SJ, Johnsen RD, Fletcher S, Wilton SD.
    Neuromuscul Disord; 2005 Oct 15; 15(9-10):622-9. PubMed ID: 16084084
    [Abstract] [Full Text] [Related]

  • 19. Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy.
    Heemskerk H, de Winter CL, van Ommen GJ, van Deutekom JC, Aartsma-Rus A.
    Ann N Y Acad Sci; 2009 Sep 15; 1175():71-9. PubMed ID: 19796079
    [Abstract] [Full Text] [Related]

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