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PUBMED FOR HANDHELDS

Journal Abstract Search


276 related items for PubMed ID: 12601554

  • 1. 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; 48(2):91-5. PubMed ID: 12601554
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  • 2. 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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  • 3. 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 Aug; 83(1-4):19-23. PubMed ID: 19388593
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  • 4. [Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms].
    Nonaka I.
    Nihon Rinsho; 1997 Dec; 55(12):3176-80. PubMed ID: 9436431
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  • 5. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
    Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
    Biochem Biophys Res Commun; 2006 Apr 07; 342(2):489-502. PubMed ID: 16487936
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  • 7. LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
    Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L.
    Eur J Paediatr Neurol; 2009 Jan 07; 13(1):72-6. PubMed ID: 18406646
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  • 9. 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 07; 30(1):22-8. PubMed ID: 10222457
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  • 11. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
    Rom J Morphol Embryol; 2008 Feb 07; 49(2):229-33. PubMed ID: 18516331
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  • 15. 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 07; 39(5):264-7. PubMed ID: 19294599
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  • 18. Beyond dystrophin: current progress in the muscular dystrophies.
    Bönnemann CG, McNally EM, Kunkel LM.
    Curr Opin Pediatr; 1996 Dec 07; 8(6):569-82. PubMed ID: 9018440
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  • 20. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
    Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.
    J Med Genet; 2001 Oct 07; 38(10):649-57. PubMed ID: 11584042
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