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631 related items for PubMed ID: 19154541

  • 1. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.
    Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP.
    Acta Neurol Scand; 2009 Aug; 120(2):111-8. PubMed ID: 19154541
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 27; 17(2):157-62. PubMed ID: 17129727
    [Abstract] [Full Text] [Related]

  • 4. Novel DYSF mutations in Thai patients with distal myopathy.
    Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.
    Clin Neurol Neurosurg; 2009 Sep 27; 111(7):613-8. PubMed ID: 19493611
    [Abstract] [Full Text] [Related]

  • 5. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
    Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.
    Neuromuscul Disord; 2014 Dec 27; 24(12):1097-102. PubMed ID: 25176504
    [Abstract] [Full Text] [Related]

  • 6. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
    Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.
    Brain; 2007 Jun 27; 130(Pt 6):1485-96. PubMed ID: 17439987
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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 17; 115(8):1234-7. PubMed ID: 23254335
    [Abstract] [Full Text] [Related]

  • 9. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
    Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M.
    Folia Neuropathol; 2014 Aug 17; 52(4):452-6. PubMed ID: 25574751
    [Abstract] [Full Text] [Related]

  • 10. 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 17; 26(2):165. PubMed ID: 16010686
    [Abstract] [Full Text] [Related]

  • 11. 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 17; 8(1):77-88. PubMed ID: 17132147
    [Abstract] [Full Text] [Related]

  • 12. Muscle MRI findings in limb girdle muscular dystrophy type 2L.
    Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S122-9. PubMed ID: 22980763
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 184(6):1668-76. PubMed ID: 24685690
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 18(1):34-44. PubMed ID: 17897828
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 250(12):1431-8. PubMed ID: 14673575
    [Abstract] [Full Text] [Related]

  • 16. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
    Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.
    Brain; 2007 Feb 01; 130(Pt 2):368-80. PubMed ID: 17008331
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Dysferlinopathy: a clinical and histopathological study of 28 patients from India.
    Nalini A, Gayathri N.
    Neurol India; 2008 Apr 11; 56(3):379-85; discussion 386-7. PubMed ID: 18974568
    [Abstract] [Full Text] [Related]

  • 19. Dysferlinopathies: Clinical and genetic variability.
    Ivanova A, Smirnikhina S, Lavrov A.
    Clin Genet; 2022 Dec 11; 102(6):465-473. PubMed ID: 36029111
    [Abstract] [Full Text] [Related]

  • 20. 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 11; 64(8):1176-82. PubMed ID: 17698709
    [Abstract] [Full Text] [Related]

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