These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 15318348)

  • 1. Developmental and tissue-specific regulation of a novel dysferlin isoform.
    Salani S; Lucchiari S; Fortunato F; Crimi M; Corti S; Locatelli F; Bossolasco P; Bresolin N; Comi GP
    Muscle Nerve; 2004 Sep; 30(3):366-74. PubMed ID: 15318348
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dysferlin and the plasma membrane repair in muscular dystrophy.
    Bansal D; Campbell KP
    Trends Cell Biol; 2004 Apr; 14(4):206-13. PubMed ID: 15066638
    [TBL] [Abstract][Full Text] [Related]  

  • 4. From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis.
    Klinge L; Laval S; Keers S; Haldane F; Straub V; Barresi R; Bushby K
    FASEB J; 2007 Jun; 21(8):1768-76. PubMed ID: 17363620
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
    Jaiswal JK; Marlow G; Summerill G; Mahjneh I; Mueller S; Hill M; Miyake K; Haase H; Anderson LV; Richard I; Kiuru-Enari S; McNeil PL; Simon SM; Bashir R
    Traffic; 2007 Jan; 8(1):77-88. PubMed ID: 17132147
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I; De Luna N; Domínguez-Perles R; Rojas-García R; Paradas C; Palmer J; Márquez C; Gallano P; Gallardo E
    Neurology; 2007 Apr; 68(16):1284-9. PubMed ID: 17287450
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defective membrane repair in dysferlin-deficient muscular dystrophy.
    Bansal D; Miyake K; Vogel SS; Groh S; Chen CC; Williamson R; McNeil PL; Campbell KP
    Nature; 2003 May; 423(6936):168-72. PubMed ID: 12736685
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterisation of the dysferlin skeletal muscle promoter.
    Foxton RM; Laval SH; Bushby KM
    Eur J Hum Genet; 2004 Feb; 12(2):127-31. PubMed ID: 14560310
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 26(2):165. PubMed ID: 16010686
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells.
    Markert CD; Ning J; Staley JT; Heinzke L; Childers CK; Ferreira JA; Brown M; Stoker A; Okamura C; Childers MK
    Neuromuscul Disord; 2008 May; 18(5):413-22. PubMed ID: 18440815
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 280(23):6045-60. PubMed ID: 24028392
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
    De Luna N; Gallardo E; Sonnet C; Chazaud B; Dominguez-Perles R; Suarez-Calvet X; Gherardi RK; Illa I
    J Neuropathol Exp Neurol; 2010 Jun; 69(6):643-53. PubMed ID: 20467328
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
    Ho M; Post CM; Donahue LR; Lidov HG; Bronson RT; Goolsby H; Watkins SC; Cox GA; Brown RH
    Hum Mol Genet; 2004 Sep; 13(18):1999-2010. PubMed ID: 15254015
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
    Cagliani R; Magri F; Toscano A; Merlini L; Fortunato F; Lamperti C; Rodolico C; Prelle A; Sironi M; Aguennouz M; Ciscato P; Uncini A; Moggio M; Bresolin N; Comi GP
    Hum Mutat; 2005 Sep; 26(3):283. PubMed ID: 16100712
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.
    Piccolo F; Moore SA; Ford GC; Campbell KP
    Ann Neurol; 2000 Dec; 48(6):902-12. PubMed ID: 11117547
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 19(10):1897-907. PubMed ID: 20154340
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 55(8):546-9. PubMed ID: 20535123
    [TBL] [Abstract][Full Text] [Related]  

  • 18. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
    Huang Y; Laval SH; van Remoortere A; Baudier J; Benaud C; Anderson LV; Straub V; Deelder A; Frants RR; den Dunnen JT; Bushby K; van der Maarel SM
    FASEB J; 2007 Mar; 21(3):732-42. PubMed ID: 17185750
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.
    Philippi S; Lorain S; Beley C; Peccate C; Précigout G; Spuler S; Garcia L
    Hum Mol Genet; 2015 Jul; 24(14):4049-60. PubMed ID: 25904108
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.
    Azakir BA; Di Fulvio S; Kinter J; Sinnreich M
    J Biol Chem; 2012 Mar; 287(13):10344-10354. PubMed ID: 22318734
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.