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Journal Abstract Search

355 related items for PubMed ID: 20667157

  • 1. Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease.
    Fuschillo S, Torrente Y, Balzano G.
    Respir Care; 2010 Aug; 55(8):1091-3. PubMed ID: 20667157
    [Abstract] [Full Text] [Related]

  • 2. A case of dysferlinopathy presenting choreic movements.
    Takahashi T, Aoki M, Imai T, Yoshioka M, Konno H, Higano S, Onodera Y, Saito H, Kimura I, Itoyama Y.
    Mov Disord; 2006 Sep; 21(9):1513-5. PubMed ID: 16817213
    [Abstract] [Full Text] [Related]

  • 3. 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; 17(2):157-62. PubMed ID: 17129727
    [Abstract] [Full Text] [Related]

  • 4. Proteomic investigation of the molecular pathophysiology of dysferlinopathy.
    De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C.
    Proteomics; 2006 Jan; 6(1):379-85. PubMed ID: 16302276
    [Abstract] [Full Text] [Related]

  • 5. 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
    [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. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.
    Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.
    Neurology; 2010 Jul 27; 75(4):316-23. PubMed ID: 20574037
    [Abstract] [Full Text] [Related]

  • 8. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
    Sinnreich M, Therrien C, Karpati G.
    Neurology; 2006 Apr 11; 66(7):1114-6. PubMed ID: 16606933
    [Abstract] [Full Text] [Related]

  • 9. Dysferlin and muscular dystrophy.
    Bushby KM.
    Acta Neurol Belg; 2000 Sep 11; 100(3):142-5. PubMed ID: 11098285
    [Abstract] [Full Text] [Related]

  • 10. Variable reduction of caveolin-3 in patients with LGMD2B/MM.
    Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.
    J Neurol; 2003 Dec 11; 250(12):1431-8. PubMed ID: 14673575
    [Abstract] [Full Text] [Related]

  • 11. 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 08; 423(6936):168-72. PubMed ID: 12736685
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 68(16):1284-9. PubMed ID: 17287450
    [Abstract] [Full Text] [Related]

  • 13. Loss of podocyte dysferlin expression is associated with minimal change nephropathy.
    Izzedine H, Brocheriou I, Eymard B, Le Charpentier M, Romero NB, Lenaour G, Bourry E, Deray G.
    Am J Kidney Dis; 2006 Jul 17; 48(1):143-50. PubMed ID: 16797397
    [Abstract] [Full Text] [Related]

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  • 16. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.
    Neuromuscul Disord; 2008 Jan 17; 18(1):34-44. PubMed ID: 17897828
    [Abstract] [Full Text] [Related]

  • 17. Oral health considerations in muscular dystrophies.
    Balasubramaniam R, Sollecito TP, Stoopler ET.
    Spec Care Dentist; 2008 Jan 17; 28(6):243-53. PubMed ID: 19068065
    [Abstract] [Full Text] [Related]

  • 18. [Respiratory system elastance and resistance measured by proportional assist ventilation in patients with respiratory muscle weakness].
    Oya Y, Ogawa M, Kawai M.
    Rinsho Shinkeigaku; 2004 Jan 17; 44(4-5):268-73. PubMed ID: 15287508
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 27(6):599-600. PubMed ID: 16705711
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 13(18):1999-2010. PubMed ID: 15254015
    [Abstract] [Full Text] [Related]

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