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PUBMED FOR HANDHELDS

Journal Abstract Search

319 related items for PubMed ID: 32053901

  • 1. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
    Antoniel M, Traina F, Merlini L, Andrenacci D, Tigani D, Santi S, Cenni V, Sabatelli P, Faldini C, Squarzoni S.
    Cells; 2020 Feb 11; 9(2):. PubMed ID: 32053901
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  • 2. Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
    Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.
    Biochim Biophys Acta; 2014 Sep 11; 1842(9):1604-12. PubMed ID: 24907562
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  • 8. Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
    Cenni V, Sabatelli P, Di Martino A, Merlini L, Antoniel M, Squarzoni S, Neri S, Santi S, Metti S, Bonaldo P, Faldini C.
    Cells; 2024 Feb 22; 13(5):. PubMed ID: 38474342
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  • 9. 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 22; 192():105734. PubMed ID: 32065942
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  • 10. 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 22; 29(9):657-663. PubMed ID: 31471117
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  • 11. Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.
    Sardone F, Traina F, Bondi A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.
    Front Aging Neurosci; 2016 Sep 22; 8():131. PubMed ID: 27375477
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  • 12. 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 22; 41(2):95-98. PubMed ID: 35832501
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  • 13. 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 22; 266(4):934-941. PubMed ID: 30706156
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  • 14. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Bönnemann CG.
    Handb Clin Neurol; 2011 Apr 22; 101():81-96. PubMed ID: 21496625
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  • 15. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
    Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panadés-de Oliveira L, Domínguez-González C, Inashkina I, Kidere D, Chrestian N, Lace B.
    Neuromuscul Disord; 2020 Jun 22; 30(6):483-491. PubMed ID: 32448721
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  • 16. COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy.
    Brands J, Steffen F, Spennes J, Leeb T, Bilzer T.
    Muscle Nerve; 2021 Apr 22; 63(4):608-616. PubMed ID: 33382107
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  • 17. 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 22; 29(6):809-22. PubMed ID: 18366090
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  • 18. New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
    Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C.
    Int J Mol Sci; 2023 Aug 05; 24(15):. PubMed ID: 37569848
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  • 19. 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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  • 20. Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response.
    Sardone F, Santi S, Tagliavini F, Traina F, Merlini L, Squarzoni S, Cescon M, Wagener R, Maraldi NM, Bonaldo P, Faldini C, Sabatelli P.
    Matrix Biol; 2016 Sep 15; 55():90-105. PubMed ID: 26944560
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