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Journal Abstract Search

123 related items for PubMed ID: 22849992

  • 1. [A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness].
    Kobayashi Y, Takahashi T, Sumi H, Fujimura H, Aoki M, P Takahashi M, Sakoda S.
    Rinsho Shinkeigaku; 2012; 52(7):495-8. PubMed ID: 22849992
    [Abstract] [Full Text] [Related]

  • 2. 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; 84(4):433-40. PubMed ID: 23243261
    [Abstract] [Full Text] [Related]

  • 3. 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 Apr; 49(24):2693-6. PubMed ID: 21173544
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. [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 30; 72(7-8):373-376. PubMed ID: 28795552
    [Abstract] [Full Text] [Related]

  • 7. [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]

  • 8. Late onset in dysferlinopathy widens the clinical spectrum.
    Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K.
    Neuromuscul Disord; 2008 Apr 05; 18(4):288-90. PubMed ID: 18396043
    [Abstract] [Full Text] [Related]

  • 9. 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 05; 47(5):740-7. PubMed ID: 23519732
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 64(8):1176-82. PubMed ID: 17698709
    [Abstract] [Full Text] [Related]

  • 11. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
    Okahashi S, Ogawa G, Suzuki M, Ogata K, Nishino I, Kawai M.
    Intern Med; 2008 Aug 05; 47(4):305-7. PubMed ID: 18277035
    [Abstract] [Full Text] [Related]

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

  • 13. 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]

  • 14. [Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B)].
    Aoki M, Takahashi T.
    Rinsho Shinkeigaku; 2005 Nov 05; 45(11):938-42. PubMed ID: 16447768
    [Abstract] [Full Text] [Related]

  • 15. Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.
    Angelini C, Grisold W, Nigro V.
    Acta Myol; 2011 Dec 05; 30(3):185-7. PubMed ID: 22616201
    [Abstract] [Full Text] [Related]

  • 16. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.
    Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H.
    Neuromuscul Disord; 2001 Jan 05; 11(1):20-6. PubMed ID: 11166162
    [Abstract] [Full Text] [Related]

  • 17. Dysferlinopathy in Iran: Clinical and genetic report.
    Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S.
    J Neurol Sci; 2015 Dec 15; 359(1-2):256-9. PubMed ID: 26671124
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
    Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
    J Neurol Sci; 2003 Jul 15; 211(1-2):23-8. PubMed ID: 12767493
    [Abstract] [Full Text] [Related]

  • 20. Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.
    Meznaric M, Gonzalez-Quereda L, Gallardo E, de Luna N, Gallano P, Fanin M, Angelini C, Peterlin B, Zidar J.
    Eur J Neurol; 2011 Jul 15; 18(7):1021-3. PubMed ID: 21658164
    [Abstract] [Full Text] [Related]

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