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Journal Abstract Search

331 related items for PubMed ID: 24443028

  • 1.
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  • 2. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
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  • 6. Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
    Picillo E, Torella A, Passamano L, Nigro V, Politano L.
    Acta Myol; 2022 Jun; 41(2):95-98. PubMed ID: 35832501
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  • 7. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
    Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC.
    Clin Neurol Neurosurg; 2020 May; 192():105734. PubMed ID: 32065942
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  • 9. 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; 29(9):657-663. PubMed ID: 31471117
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  • 10. 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; 8(4):633-645. PubMed ID: 33749658
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  • 11. Collagen VI related muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002
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  • 14. Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
    Butterfield RJ, Dunn DM, Hu Y, Johnson K, Bönnemann CG, Weiss RB.
    PLoS One; 2017 Sep; 12(12):e0189664. PubMed ID: 29244830
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  • 15. Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
    Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY.
    Gene; 2018 Sep 25; 672():165-171. PubMed ID: 29894794
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  • 16. 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
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  • 18. 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 13; 73(2):355-69. PubMed ID: 12840783
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  • 20. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
    Panadés-de Oliveira L, Rodríguez-López C, Cantero Montenegro D, Marcos Toledano MDM, Fernández-Marmiesse A, Esteban Pérez J, Hernández Lain A, Domínguez-González C.
    J Neurol; 2019 Apr 13; 266(4):934-941. PubMed ID: 30706156
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