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Journal Abstract Search

251 related items for PubMed ID: 18854869

  • 1. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
    Fanin M, Nascimbeni AC, Tasca E, Angelini C.
    Eur J Hum Genet; 2009 May; 17(5):598-603. PubMed ID: 18854869
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  • 2. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
    Fanin M, Nascimbeni AC, Angelini C.
    J Med Genet; 2007 Jan; 44(1):38-43. PubMed ID: 16971480
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  • 3. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
    Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C.
    Hum Mutat; 2004 Jul; 24(1):52-62. PubMed ID: 15221789
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  • 7. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
    Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C.
    Neurology; 2009 Apr 21; 72(16):1432-5. PubMed ID: 19380703
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  • 8. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
    Duno M, Sveen ML, Schwartz M, Vissing J.
    Eur J Hum Genet; 2008 Aug 21; 16(8):935-40. PubMed ID: 18337726
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  • 11. 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 21; 139(Pt 8):2154-63. PubMed ID: 27259757
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  • 13. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
    Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, Vajsar J.
    Neuropathology; 2008 Jun 21; 28(3):264-8. PubMed ID: 18031465
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  • 14. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
    Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.
    PLoS One; 2017 Jun 21; 12(1):e0170280. PubMed ID: 28103310
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  • 17. Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.
    Charlton R, Henderson M, Richards J, Hudson J, Straub V, Bushby K, Barresi R.
    Neuromuscul Disord; 2009 Jul 21; 19(7):449-57. PubMed ID: 19556129
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  • 18. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
    Vissing J, Dahlqvist JR, Roudaut C, Poupiot J, Richard I, Duno M, Krag T.
    Hum Mutat; 2020 Sep 21; 41(9):1507-1513. PubMed ID: 32557990
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  • 20. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
    Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG.
    J Neuromuscul Dis; 2019 Sep 21; 6(4):475-483. PubMed ID: 31498126
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