SLNSW-Homozygous expression of the myofibrillar myopath...-TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Full title: Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Author/creator: Schuld, Julia, Orfanos, Zacharias, Chevessier, Frederic, Eggers, Britta, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M, Marcus, Katrin, Linke, Wolfgang A, Clemen, Christoph S, Schroder, Rolf, Furst, Dieter O.

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Record Identifier: TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

Language: English

Formats: Articles

Publishers: London: BioMed Central Ltd

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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    Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

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    TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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    https://collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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    Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

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    https://collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

    Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

    Full title

    Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

    Author / Creator

    Schuld, Julia ; Orfanos, Zacharias ; Chevessier, Frederic ; Eggers, Britta ; Heil, Lorena ; Uszkoreit, Julian ; Unger, Andreas ; Kirfel, Gregor ; van der Ven, Peter F. M ; Marcus, Katrin ; Linke, Wolfgang A ; Clemen, Christoph S ; Schroder, Rolf ; Furst, Dieter O

    Publisher

    London: BioMed Central Ltd

    Journal title

    Acta neuropathologica communications, 2020, Vol.8 (1), p.1-154

    Record Identifier

    TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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    English

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    Articles

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    Adapter proteins Amino acids Antibodies Autophagy BAG3 Cardiomyopathy Dehydrogenases Ethylenediaminetetraacetic acid Filamin Genetic aspects Heat shock proteins Histology HSPB7 Infrared imaging systems Laboratory animals Mouse model Muscle damage Musculoskeletal system Mutation Myofibrillar lesions Myofibrillar myopathy Myogenesis Pathophysiology RNA

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    TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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    https://collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ba3e1050cbf146d9a4a94ff8ab249a1a

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