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Journal Abstract Search

364 related items for PubMed ID: 15883334

  • 1. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
    Schwartz M, Hertz JM, Sveen ML, Vissing J.
    Neurology; 2005 May 10; 64(9):1635-7. PubMed ID: 15883334
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  • 3. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
    Sveen ML, Schwartz M, Vissing J.
    Ann Neurol; 2006 May 10; 59(5):808-15. PubMed ID: 16634037
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  • 4. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
    Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.
    Hum Mutat; 2005 Jan 10; 25(1):38-44. PubMed ID: 15580560
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  • 5. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
    Darin N, Kroksmark AK, Ahlander AC, Moslemi AR, Oldfors A, Tulinius M.
    Eur J Paediatr Neurol; 2007 Nov 10; 11(6):353-7. PubMed ID: 17446099
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  • 8. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul 10; 64(7):1038-41. PubMed ID: 17620497
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  • 9. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.
    Neuromuscul Disord; 2008 Jan 10; 18(1):34-44. PubMed ID: 17897828
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  • 10. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM.
    Ann Neurol; 2008 Jan 10; 63(1):81-9. PubMed ID: 18059005
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  • 11. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
    Fendri K, Kefi M, Hentati F, Amouri R.
    Neuromuscul Disord; 2006 May 10; 16(5):316-20. PubMed ID: 16616845
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  • 14. Episodes of exercise-induced dark urine and myalgia in LGMD 2I.
    Lindberg C, Sixt C, Oldfors A.
    Acta Neurol Scand; 2012 Apr 10; 125(4):285-7. PubMed ID: 22029705
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  • 15. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
    Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN.
    Neuromuscul Disord; 2009 Mar 10; 19(3):189-92. PubMed ID: 19230662
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  • 16. Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
    Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG.
    Arch Neurol; 2010 Apr 10; 67(4):497-500. PubMed ID: 20385919
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  • 19. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
    Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L.
    J Trop Pediatr; 2014 Apr 10; 60(2):112-7. PubMed ID: 24213305
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  • 20. 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 10; 128(Pt 4):732-42. PubMed ID: 15689361
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