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Journal Abstract Search

150 related items for PubMed ID: 10611118

  • 21. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
    Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1997 May; 7(3):169-75. PubMed ID: 9185180
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  • 24. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
    Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.
    Hum Mol Genet; 2001 Dec 01; 10(25):2851-9. PubMed ID: 11741828
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  • 25. A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
    Specht S, Duff J, Charlton R, Polvikoski T, Barresi R, Töpf A, Straub V.
    Neuromuscul Disord; 2021 Jul 01; 31(7):660-665. PubMed ID: 34074572
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  • 26. Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report.
    Yamashita Y, Ohtaka E, Matsuishi T, Osari S, Kobayashi O, Nonaka I.
    Brain Dev; 1996 Jul 01; 18(2):131-4. PubMed ID: 8733905
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  • 27. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
    Am J Hum Genet; 2002 Jun 01; 70(6):1446-58. PubMed ID: 11992252
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  • 28. Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy.
    Li M, Dickson DW, Spiro AJ.
    Arch Neurol; 1997 Dec 01; 54(12):1457-61. PubMed ID: 9400354
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  • 29. 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 01; 124(Pt 4):698-704. PubMed ID: 11287370
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  • 30. LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
    Siala O, Louhichi N, Triki C, Morinière M, Fakhfakh F, Baklouti F.
    Neuromuscul Disord; 2008 Feb 01; 18(2):137-45. PubMed ID: 18053718
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  • 32. 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 Feb 01; 48(2):91-5. PubMed ID: 12601554
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  • 33. A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.
    Pegoraro E, Fanin M, Trevisan CP, Angelini C, Hoffman EP.
    Neurology; 2000 Oct 24; 55(8):1128-34. PubMed ID: 11071490
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  • 35. Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy.
    Hayashi YK, Tezak Z, Momoi T, Nonaka I, Garcia CA, Hoffman EP, Arahata K.
    Neuromuscul Disord; 2001 May 24; 11(4):350-9. PubMed ID: 11369186
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  • 36. Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
    D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F.
    Hum Genet; 1999 Oct 24; 105(4):308-13. PubMed ID: 10543397
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  • 37. A novel form of familial congenital muscular dystrophy in two adolescents.
    Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP.
    Neuropediatrics; 1998 Dec 24; 29(6):289-93. PubMed ID: 10029346
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  • 38. Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy.
    Fujii Y, Sugiura C, Fukuda C, Maegaki Y, Ohno K.
    Brain Dev; 2011 Feb 24; 33(2):140-4. PubMed ID: 20303224
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