Search Results - "Kley, Rudi"

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  1. 1
    Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems

    Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems by Sellung, Dominik, Heil, Lorena, Daya, Nassam, Jacobsen, Frank, Mertens-Rill, Janine, Zhuge, Heidi, Döring, Kristina, Piran, Misagh, Milting, Hendrik, Unger, Andreas, Linke, Wolfgang A, Kley, Rudi, Preusse, Corinna, Roos, Andreas, Fürst, Dieter O, Ven, Peter F M van der, Vorgerd, Matthias

    Published in Cells (Basel, Switzerland) (05-05-2023)
    “…Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural…”
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  2. 2
    Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

    Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3 by Jenne, Dieter E, Kley, Rudi A, Vorgerd, Matthias, Schröder, J Michael, Weis, Joachim, Reimann, Heike, Albrecht, Beate, Nürnberg, Peter, Thiele, Holger, Müller, Clemens R, Meng, Gerhard, Witt, Christian C, Labeit, Siegfried

    Published in Biological chemistry (01-01-2005)
    “…Previous family studies revealed a large number of calpain 3 ( CAPN3 ) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with…”
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