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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

222 related items for PubMed ID: 20961758

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  • 2. 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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  • 4. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.
    Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M.
    Med Electron Microsc; 2004 Dec; 37(4):200-7. PubMed ID: 15614444
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  • 8. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
    Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK.
    Prenat Diagn; 2009 Jun; 29(6):560-9. PubMed ID: 19266496
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  • 10. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
    Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N.
    Neuromuscul Disord; 2009 Mar; 19(3):182-8. PubMed ID: 19179078
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  • 11. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
    Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.
    Eur J Med Genet; 2009 Mar; 52(4):201-6. PubMed ID: 19138766
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  • 12. [Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].
    Toda T.
    Rinsho Shinkeigaku; 2005 Nov; 45(11):932-4. PubMed ID: 16447766
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  • 13. A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
    Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I.
    Neuromuscul Disord; 2013 Jul; 23(7):557-61. PubMed ID: 23582336
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  • 17. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
    Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS.
    Gene; 2014 Apr 15; 539(2):279-82. PubMed ID: 24530477
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  • 19. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
    Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.
    Eur J Med Genet; 2013 Dec 15; 56(12):689-94. PubMed ID: 24120487
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