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Journal Abstract Search

232 related items for PubMed ID: 18306167

  • 1. 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; 63(3):323-8. PubMed ID: 18306167
    [Abstract] [Full Text] [Related]

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

  • 3.
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  • 4. New aspects on patients affected by dysferlin deficient muscular dystrophy.
    Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K.
    J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):946-53. PubMed ID: 19528035
    [Abstract] [Full Text] [Related]

  • 5. 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 Sep; 27(5):289-94. PubMed ID: 18808059
    [Abstract] [Full Text] [Related]

  • 6. 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; 64(8):1176-82. PubMed ID: 17698709
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
    Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.
    Clin Neurol Neurosurg; 2013 Aug; 115(8):1234-7. PubMed ID: 23254335
    [Abstract] [Full Text] [Related]

  • 9. 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; 11(10):657-61. PubMed ID: 15469449
    [Abstract] [Full Text] [Related]

  • 10. Lipid accumulation in dysferlin-deficient muscles.
    Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T.
    Am J Pathol; 2014 Jun; 184(6):1668-76. PubMed ID: 24685690
    [Abstract] [Full Text] [Related]

  • 11. 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 Jun; 11(4):391-6. PubMed ID: 18294055
    [Abstract] [Full Text] [Related]

  • 12. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
    Therrien C, Dodig D, Karpati G, Sinnreich M.
    J Neurol Sci; 2006 Dec 01; 250(1-2):71-8. PubMed ID: 16996541
    [Abstract] [Full Text] [Related]

  • 13. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S.
    J Gene Med; 2020 Nov 01; 22(11):e3272. PubMed ID: 32889728
    [Abstract] [Full Text] [Related]

  • 14. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
    Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.
    Eur J Hum Genet; 2011 Sep 01; 19(9):974-80. PubMed ID: 21522182
    [Abstract] [Full Text] [Related]

  • 15. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B.
    Chase TH, Cox GA, Burzenski L, Foreman O, Shultz LD.
    Am J Pathol; 2009 Dec 01; 175(6):2299-308. PubMed ID: 19875504
    [Abstract] [Full Text] [Related]

  • 16. 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 23; 287(13):10344-10354. PubMed ID: 22318734
    [Abstract] [Full Text] [Related]

  • 17. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
    Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.
    Muscle Nerve; 2013 May 23; 47(5):740-7. PubMed ID: 23519732
    [Abstract] [Full Text] [Related]

  • 18. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
    Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM.
    Neuromuscul Disord; 2000 Dec 23; 10(8):553-9. PubMed ID: 11053681
    [Abstract] [Full Text] [Related]

  • 19. 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 23; 120(3):410-9. PubMed ID: 16896923
    [Abstract] [Full Text] [Related]

  • 20. 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 23; 17(2):157-62. PubMed ID: 17129727
    [Abstract] [Full Text] [Related]

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