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Journal Abstract Search

207 related items for PubMed ID: 16896923

  • 1. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.
    Pramono ZA, Lai PS, Tan CL, Takeda S, Yee WC.
    Hum Genet; 2006 Oct; 120(3):410-9. PubMed ID: 16896923
    [Abstract] [Full Text] [Related]

  • 2. Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.
    Krahn M, Labelle V, Borges A, Bartoli M, Lévy N.
    Genet Test Mol Biomarkers; 2010 Feb; 14(1):153-4. PubMed ID: 19929428
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.
    Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LV, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R.
    Neuroreport; 2001 Mar 05; 12(3):625-9. PubMed ID: 11234777
    [Abstract] [Full Text] [Related]

  • 6. Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
    Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo RM, Minauro-Sanmiguel F, Coral-Vázquez R.
    Genet Test; 2007 Mar 05; 11(4):391-6. PubMed ID: 18294055
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 24(14):4049-60. PubMed ID: 25904108
    [Abstract] [Full Text] [Related]

  • 8. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
    Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.
    Eur J Neurol; 2004 Oct 15; 11(10):657-61. PubMed ID: 15469449
    [Abstract] [Full Text] [Related]

  • 9. Dysferlin-deficient muscular dystrophy features amyloidosis.
    Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C.
    Ann Neurol; 2008 Mar 15; 63(3):323-8. PubMed ID: 18306167
    [Abstract] [Full Text] [Related]

  • 10. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.
    Pramono ZA, Tan CL, Seah IA, See JS, Kam SY, Lai PS, Yee WC.
    Hum Genet; 2009 May 15; 125(4):413-20. PubMed ID: 19221801
    [Abstract] [Full Text] [Related]

  • 11. Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
    Davis DB, Delmonte AJ, Ly CT, McNally EM.
    Hum Mol Genet; 2000 Jan 22; 9(2):217-26. PubMed ID: 10607832
    [Abstract] [Full Text] [Related]

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  • 13. Reverse engineering gene network identifies new dysferlin-interacting proteins.
    Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V.
    J Biol Chem; 2011 Feb 18; 286(7):5404-13. PubMed ID: 21119217
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 55(8):546-9. PubMed ID: 20535123
    [Abstract] [Full Text] [Related]

  • 15. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
    Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.
    Neuromuscul Disord; 2007 Feb 18; 17(2):157-62. PubMed ID: 17129727
    [Abstract] [Full Text] [Related]

  • 16. Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.
    Gal A, Siska E, Nagy Z, Karpati G, Molnar MJ.
    Clin Neuropathol; 2008 Feb 18; 27(5):289-94. PubMed ID: 18808059
    [Abstract] [Full Text] [Related]

  • 17. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
    Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.
    Arch Neurol; 2007 Aug 18; 64(8):1176-82. PubMed ID: 17698709
    [Abstract] [Full Text] [Related]

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  • 19. [Amyloidosis in muscular dystrophy].
    Carl M, Röcken C, Spuler S.
    Pathologe; 2009 May 18; 30(3):235-9. PubMed ID: 19326120
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