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Pubmed for Handhelds

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Journal Abstract Search

341 related items for PubMed ID: 22068471

  • 1. [Recent Advances in α-dystroglycanopathy].
    Kuga A, Kanagawa M, Toda T.
    Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471
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  • 3. Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
    Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T.
    Mol Aspects Med; 2016 Oct; 51():115-24. PubMed ID: 27421908
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  • 4. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
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  • 8. Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan.
    Manya H, Endo T.
    Biochim Biophys Acta Gen Subj; 2017 Oct; 1861(10):2462-2472. PubMed ID: 28711406
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  • 10. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.
    Ohtsuka Y, Kanagawa M, Yu CC, Ito C, Chiyo T, Kobayashi K, Okada T, Takeda S, Toda T.
    Sci Rep; 2015 Feb 09; 5():8316. PubMed ID: 25661440
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  • 12. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
    Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.
    Congenit Anom (Kyoto); 2003 Jun 09; 43(2):97-104. PubMed ID: 12893968
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  • 15. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG.
    Am J Hum Genet; 2002 Nov 09; 71(5):1033-43. PubMed ID: 12369018
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  • 18. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
    Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H.
    Hum Mol Genet; 2013 May 01; 22(9):1746-54. PubMed ID: 23359570
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  • 20. Glycosylation defects: a new mechanism for muscular dystrophy?
    Grewal PK, Hewitt JE.
    Hum Mol Genet; 2003 Oct 15; 12 Spec No 2():R259-64. PubMed ID: 12925572
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