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Journal Abstract Search

267 related items for PubMed ID: 18366090

  • 1. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.
    Hum Mutat; 2008 Jun; 29(6):809-22. PubMed ID: 18366090
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 Jun. PubMed ID: 20301676
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  • 5. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.
    J Med Genet; 2005 Feb; 42(2):108-20. PubMed ID: 15689448
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  • 6. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
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  • 8. 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; 70(6):1446-58. PubMed ID: 11992252
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  • 12. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
    Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.
    Neuropediatrics; 2004 Apr; 35(2):103-12. PubMed ID: 15127309
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  • 13. Paternal germline mosaicism in collagen VI related myopathies.
    Armaroli A, Trabanelli C, Scotton C, Venturoli A, Selvatici R, Brisca G, Merlini L, Bruno C, Ferlini A, Gualandi F.
    Eur J Paediatr Neurol; 2015 Sep; 19(5):533-6. PubMed ID: 25978941
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  • 14. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
    Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML.
    J Biol Chem; 2014 Apr 11; 289(15):10293-10307. PubMed ID: 24563484
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  • 15. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
    Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F.
    Neuromuscul Disord; 2006 Oct 11; 16(9-10):571-82. PubMed ID: 16935502
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  • 16. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
    Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bönnemann CG, Chu ML.
    J Biol Chem; 2010 Mar 26; 285(13):10005-10015. PubMed ID: 20106987
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  • 17. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep 26; 29(9):657-663. PubMed ID: 31471117
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  • 18. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Sep 26; 802():185-99. PubMed ID: 24443028
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  • 19. A refined diagnostic algorithm for Bethlem myopathy.
    Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K.
    Neurology; 2008 Apr 01; 70(14):1192-9. PubMed ID: 18378883
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  • 20. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
    Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibañez A, Pastor P, Lamandé SR.
    J Biol Chem; 2015 Feb 13; 290(7):4272-81. PubMed ID: 25533456
    [Abstract] [Full Text] [Related]

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