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Journal Abstract Search

123 related items for PubMed ID: 10329467

  • 1. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
    Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML.
    Biochem Biophys Res Commun; 1999 May 19; 258(3):802-7. PubMed ID: 10329467
    [Abstract] [Full Text] [Related]

  • 2. Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
    Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.
    Ann Neurol; 2007 Oct 19; 62(4):390-405. PubMed ID: 17886299
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
    Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA.
    Nat Genet; 1996 Sep 15; 14(1):113-5. PubMed ID: 8782832
    [Abstract] [Full Text] [Related]

  • 5. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
    Lamandé SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF.
    J Biol Chem; 1999 Jul 30; 274(31):21817-22. PubMed ID: 10419498
    [Abstract] [Full Text] [Related]

  • 6. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
    Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML.
    Ann Neurol; 2006 Jan 30; 59(1):190-5. PubMed ID: 16278855
    [Abstract] [Full Text] [Related]

  • 7. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
    Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G.
    Neurology; 2005 Jun 14; 64(11):1931-7. PubMed ID: 15955946
    [Abstract] [Full Text] [Related]

  • 8. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
    Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.
    Am J Hum Genet; 2003 Aug 14; 73(2):355-69. PubMed ID: 12840783
    [Abstract] [Full Text] [Related]

  • 9. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov 14; 45(11):935-7. PubMed ID: 16447767
    [Abstract] [Full Text] [Related]

  • 10. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
    Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G.
    Muscle Nerve; 2002 Apr 14; 25(4):513-9. PubMed ID: 11932968
    [Abstract] [Full Text] [Related]

  • 11. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
    Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R.
    Neuromuscul Disord; 1999 Jun 14; 9(4):264-71. PubMed ID: 10399756
    [Abstract] [Full Text] [Related]

  • 12. Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
    Kawahara G, Okada M, Morone N, Ibarra CA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
    Neurology; 2007 Sep 04; 69(10):1043-9. PubMed ID: 17785674
    [Abstract] [Full Text] [Related]

  • 13. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
    Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR.
    Neuromuscul Disord; 2007 Jul 04; 17(7):547-57. PubMed ID: 17537636
    [Abstract] [Full Text] [Related]

  • 14. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations.
    Lamandé SR, Mörgelin M, Selan C, Jöbsis GJ, Baas F, Bateman JF.
    J Biol Chem; 2002 Jan 18; 277(3):1949-56. PubMed ID: 11707460
    [Abstract] [Full Text] [Related]

  • 15. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
    Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R.
    Folia Neuropathol; 2017 Jan 18; 55(3):214-220. PubMed ID: 28984114
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.
    Hum Mutat; 2007 Apr 04; 28(4):387-95. PubMed ID: 17211858
    [Abstract] [Full Text] [Related]

  • 18. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
    Chen L, Yang W, Cole WG.
    J Orthop Res; 1996 Sep 04; 14(5):712-21. PubMed ID: 8893763
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
    Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG.
    J Neuropathol Exp Neurol; 2008 Feb 13; 67(2):144-54. PubMed ID: 18219255
    [Abstract] [Full Text] [Related]

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