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Journal Abstract Search

241 related items for PubMed ID: 20106987

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  • 2. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.
    Hum Mol Genet; 2005 Jan 15; 14(2):279-93. PubMed ID: 15563506
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  • 4. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
    Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML.
    Hum Genet; 2005 Sep 15; 117(5):460-6. PubMed ID: 16075202
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  • 6. 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 15; 29(6):809-22. PubMed ID: 18366090
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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 15; 19(5):533-6. PubMed ID: 25978941
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  • 14. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
    Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T.
    J Neuromuscul Dis; 2021 Sep 15; 8(4):633-645. PubMed ID: 33749658
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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 15; 16(9-10):571-82. PubMed ID: 16935502
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  • 16. 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 15; 42(2):108-20. PubMed ID: 15689448
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  • 17. Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
    Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH.
    Iran J Child Neurol; 2013 Feb 15; 7(3):15-22. PubMed ID: 24665301
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  • 18. Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
    Sharaf-Eldin WE, Rafat K, Issa MY, Elbendary HM, Eissa NR, Hawaary B, Gaboon NEA, Maroofian R, Gleeson JG, Essawi ML, Zaki MS.
    J Mol Neurosci; 2024 Oct 05; 74(4):93. PubMed ID: 39367186
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  • 19. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
    Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.
    Neurology; 2007 Sep 04; 69(10):1035-42. PubMed ID: 17785673
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  • 20. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Sep 04; 802():185-99. PubMed ID: 24443028
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