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Journal Abstract Search

255 related items for PubMed ID: 24556424

  • 1. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.
    Neuromuscul Disord; 2014 Apr; 24(4):321-4. PubMed ID: 24556424
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  • 6. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
    Chong YK, Ma LC, Lo KL, Lee CK, Mak CM, Kan AN, Lam CW.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):532-5. PubMed ID: 24657014
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  • 9. A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
    Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U.
    Eur J Paediatr Neurol; 2007 Jan; 11(1):46-9. PubMed ID: 17161965
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  • 11. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
    Murakami T, Nishino I.
    Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603
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  • 14. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
    Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F.
    Neurogenetics; 2004 Feb; 5(1):27-34. PubMed ID: 14652796
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  • 15. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
    Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H.
    J Hum Genet; 2016 Aug; 61(8):753-9. PubMed ID: 27193224
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  • 16. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
    Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.
    Hum Mol Genet; 2003 Nov 01; 12(21):2853-61. PubMed ID: 12966029
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