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Journal Abstract Search

480 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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  • 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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  • 10. Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
    Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B.
    C R Acad Sci III; 1995 Dec; 318(12):1245-52. PubMed ID: 8745640
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  • 11. Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.
    Mendell JT, Panicker SG, Tsao CY, Feng B, Sahenk Z, Marzluf GA, Mendell JR.
    Hum Mutat; 1998 Dec; 12(2):135. PubMed ID: 10694916
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  • 12. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
    Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, Di Cianno B, Hoffman EP.
    Ann Neurol; 1996 Nov; 40(5):782-91. PubMed ID: 8957020
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  • 14. Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.
    Yuan J, Takashima H, Higuchi I, Arimura K, Li N, Zhao Z, Shen H, Hu J.
    Neuropediatrics; 2008 Oct; 39(5):264-7. PubMed ID: 19294599
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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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  • 18. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
    Rom J Morphol Embryol; 2008 Aug; 49(2):229-33. PubMed ID: 18516331
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