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Journal Abstract Search

286 related items for PubMed ID: 27501525

  • 1. Progress and challenges in diagnosis of dysferlinopathy.
    Fanin M, Angelini C.
    Muscle Nerve; 2016 Nov; 54(5):821-835. PubMed ID: 27501525
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Heterogeneous characteristics of Korean patients with dysferlinopathy.
    Park HJ, Hong JM, Suh GI, Shin HY, Kim SM, Sunwoo IN, Suh BC, Choi YC.
    J Korean Med Sci; 2012 Apr; 27(4):423-9. PubMed ID: 22468107
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. [Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases].
    Ren SC, Yan CZ, Li MX, Liu SP, Wu JL, Zhao YY, Li W, Li DN.
    Zhonghua Yi Xue Za Zhi; 2007 Jun 05; 87(21):1486-90. PubMed ID: 17785089
    [Abstract] [Full Text] [Related]

  • 6. Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.
    Patel NJ, Van Dyke KW, Espinoza LR.
    Am J Med Sci; 2017 May 05; 353(5):484-491. PubMed ID: 28502335
    [Abstract] [Full Text] [Related]

  • 7. 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 May 05; 52(4):452-6. PubMed ID: 25574751
    [Abstract] [Full Text] [Related]

  • 8. Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
    Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.
    Muscle Nerve; 2014 Sep 05; 50(3):333-9. PubMed ID: 24488599
    [Abstract] [Full Text] [Related]

  • 9. Dysferlinopathy: a clinical and histopathological study of 28 patients from India.
    Nalini A, Gayathri N.
    Neurol India; 2008 Sep 05; 56(3):379-85; discussion 386-7. PubMed ID: 18974568
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 27(5):289-94. PubMed ID: 18808059
    [Abstract] [Full Text] [Related]

  • 11. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
    Poudel BH, Fletcher S, Wilton SD, Aung-Htut M.
    Int J Mol Sci; 2024 May 21; 25(11):. PubMed ID: 38891760
    [Abstract] [Full Text] [Related]

  • 12. 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 21; 81(9):946-53. PubMed ID: 19528035
    [Abstract] [Full Text] [Related]

  • 13. Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.
    Xu C, Chen J, Zhang Y, Li J.
    Medicine (Baltimore); 2018 May 21; 97(21):e10539. PubMed ID: 29794729
    [Abstract] [Full Text] [Related]

  • 14. [Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy].
    Saintmard G, Brands G, Debray FG, Lognard M.
    Rev Med Liege; 2017 Jul 21; 72(7-8):373-376. PubMed ID: 28795552
    [Abstract] [Full Text] [Related]

  • 15. Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.
    Rekik S, Sakka S, Romdhane SB, Amer YB, Lehkim L, Farhat N, Mahfoudh KB, Authier FJ, Dammak M, Mhiri C.
    Mol Biol Rep; 2020 Aug 21; 47(8):5755-5761. PubMed ID: 32666437
    [Abstract] [Full Text] [Related]

  • 16. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
    Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
    J Neurol Neurosurg Psychiatry; 2013 Apr 21; 84(4):433-40. PubMed ID: 23243261
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Rapid screening for Japanese dysferlinopathy by fluorescent primer extension.
    Hayashi S, Ohsawa Y, Takahashi T, Suzuki N, Okada T, Rikimaru M, Murakami T, Aoki M, Sunada Y.
    Intern Med; 2010 Jul 27; 49(24):2693-6. PubMed ID: 21173544
    [Abstract] [Full Text] [Related]

  • 19. 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 27; 47(5):740-7. PubMed ID: 23519732
    [Abstract] [Full Text] [Related]

  • 20. Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
    Katz J, Labilloy A, Lee A.
    BMC Pediatr; 2022 Aug 30; 22(1):515. PubMed ID: 36042458
    [Abstract] [Full Text] [Related]

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