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Journal Abstract Search

172 related items for PubMed ID: 19556129

  • 1. 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; 19(7):449-57. PubMed ID: 19556129
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  • 2. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
    Fanin M, Angelini C.
    Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067
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  • 3. 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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  • 4. 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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  • 8. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
    Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.
    Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493
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  • 10. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
    Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L.
    Neuromuscul Disord; 2004 Oct; 14(10):659-65. PubMed ID: 15351423
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  • 11. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar; 33(3):424-32. PubMed ID: 16372320
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  • 12. Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.
    Yalvac ME, Amornvit J, Braganza C, Chen L, Hussain SA, Shontz KM, Montgomery CL, Flanigan KM, Lewis S, Sahenk Z.
    Skelet Muscle; 2017 Dec 14; 7(1):27. PubMed ID: 29241457
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  • 15. 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 14; 16(8):935-40. PubMed ID: 18337726
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  • 16. 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 14; 17(5):598-603. PubMed ID: 18854869
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  • 17. Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
    Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, Krag TO.
    BMC Musculoskelet Disord; 2012 Mar 23; 13():43. PubMed ID: 22443334
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