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Journal Abstract Search

391 related items for PubMed ID: 9731527

  • 21.
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  • 22. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.
    Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F.
    Neuromuscul Disord; 2000 Jun; 10(4-5):240-6. PubMed ID: 10838249
    [Abstract] [Full Text] [Related]

  • 23. Dysferlin is a plasma membrane protein and is expressed early in human development.
    Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM.
    Hum Mol Genet; 1999 May; 8(5):855-61. PubMed ID: 10196375
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  • 24. 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; 11(1):20-6. PubMed ID: 11166162
    [Abstract] [Full Text] [Related]

  • 25.
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  • 26. 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]

  • 27.
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  • 28. Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.
    Shunchang S, Fan Q, Huacheng W, Leturcq F, Yongjian S, Bingfeng Z, Wen Y, Deburgrave N.
    Clin Neurol Neurosurg; 2006 Jun 15; 108(4):369-73. PubMed ID: 16023782
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  • 29.
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  • 31.
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  • 32. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.
    Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Poleshchuk VV, Markova ED, Tsuji S.
    Genomics; 1997 Jun 01; 42(2):345-8. PubMed ID: 9192858
    [Abstract] [Full Text] [Related]

  • 33. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.
    Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A.
    Genomics; 1995 May 01; 27(1):192-5. PubMed ID: 7665169
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  • 34.
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  • 35. [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 01; 45(11):938-42. PubMed ID: 16447768
    [Abstract] [Full Text] [Related]

  • 36.
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  • 37. 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 01; 64(8):1176-82. PubMed ID: 17698709
    [Abstract] [Full Text] [Related]

  • 38.
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  • 39. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
    Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.
    Brain; 2016 Aug 01; 139(Pt 8):2154-63. PubMed ID: 27259757
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  • 40.
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