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Journal Abstract Search

481 related items for PubMed ID: 19388593

  • 1. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
    Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.
    Arch Inst Pasteur Tunis; 2006; 83(1-4):19-23. PubMed ID: 19388593
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  • 2. 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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  • 3. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
    Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K.
    Nat Genet; 1995 Oct; 11(2):216-8. PubMed ID: 7550355
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  • 4. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.
    Coral-Vazquez RM, Rosas-Vargas H, Meza-Espinosa P, Mendoza I, Huicochea JC, Ramon G, Salamanca F.
    J Hum Genet; 2003 Oct; 48(2):91-5. PubMed ID: 12601554
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  • 5. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
    Allamand V, Guicheney P.
    Eur J Hum Genet; 2002 Feb; 10(2):91-4. PubMed ID: 11938437
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  • 6. [Muscular dystrophies due to alterations at extracellular space level: congenital muscular dystrophy caused by merosin deficiency].
    Smeyers P.
    Rev Neurol; 2002 Feb; 28(2):141-9. PubMed ID: 10101782
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  • 7. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
    Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FM.
    Neuromuscul Disord; 2005 Oct; 15(9-10):588-94. PubMed ID: 16084089
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  • 8. 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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  • 9. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
    Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.
    Clin Genet; 2008 Dec; 74(6):502-12. PubMed ID: 18700894
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  • 15. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
    Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F.
    Neuropediatrics; 1997 Aug; 28(4):217-22. PubMed ID: 9309712
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  • 17. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
    Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.
    Am J Hum Genet; 2001 Dec; 69(6):1198-209. PubMed ID: 11592034
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  • 18. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
    Rom J Morphol Embryol; 2008 Dec; 49(2):229-33. PubMed ID: 18516331
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