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Journal Abstract Search

307 related items for PubMed ID: 9829280

  • 1. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
    Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1998 Oct; 8(7):495-501. PubMed ID: 9829280
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  • 2. Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
    Naom I, D'alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F.
    Brain; 2000 Jan; 123 ( Pt 1)():31-41. PubMed ID: 10611118
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  • 4. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
    Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M.
    Neuromuscul Disord; 1997 May; 7(3):180-6. PubMed ID: 9185182
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  • 5. Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.
    Chan SH, Foley AR, Phadke R, Mathew AA, Pitt M, Sewry C, Muntoni F.
    Neuromuscul Disord; 2014 Aug; 24(8):677-83. PubMed ID: 24957499
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  • 11. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.
    Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
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  • 15. Merosin-positive congenital muscular dystrophy: a large inbred family.
    Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G.
    Neuropediatrics; 1999 Feb; 30(1):22-8. PubMed ID: 10222457
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  • 17. Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
    Di Blasi C, He Y, Morandi L, Cornelio F, Guicheney P, Mora M.
    Brain; 2001 Apr; 124(Pt 4):698-704. PubMed ID: 11287370
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  • 20. An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.
    Muntoni F, Taylor J, Sewry CA, Naom I, Dubowitz V.
    Eur J Paediatr Neurol; 1998 Apr; 2(1):19-26. PubMed ID: 10726842
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