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Journal Abstract Search

169 related items for PubMed ID: 15725583

  • 1. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
    Fanin M, Nascimbeni AC, Fulizio L, Angelini C.
    Neuromuscul Disord; 2005 Mar; 15(3):218-24. PubMed ID: 15725583
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  • 2. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
    Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.
    Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
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  • 3. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
    Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.
    Neuromuscul Disord; 2005 Feb; 15(2):164-71. PubMed ID: 15694138
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  • 5. 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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  • 6. 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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  • 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; 16(8):935-40. PubMed ID: 18337726
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  • 11. The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.
    Dorobek M, Ryniewicz B, Kabzińska D, Fidziańska A, Styczyńska M, Hausmanowa-Petrusewicz I.
    Genet Test Mol Biomarkers; 2015 Nov; 19(11):637-40. PubMed ID: 26484845
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  • 17. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
    Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S.
    Biol Chem; 2005 Jan; 386(1):61-7. PubMed ID: 15843148
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  • 19. Early onset calpainopathy with normal non-functional calpain 3 level.
    Lanzillo R, Aurino S, Fanin M, Aguennoz M, Vitale F, Fiorillo C, Del Giudice E, Nigro V, Santoro L.
    Dev Med Child Neurol; 2006 Apr; 48(4):304-6. PubMed ID: 16542520
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  • 20. Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.
    Luo SS, Xi JY, Zhu WH, Zhao CB, Lu JH, Lin J, Wang Y, Lu J, Qiao K.
    Muscle Nerve; 2012 Nov; 46(5):723-9. PubMed ID: 22926650
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