On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

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Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2989-2990

Oxford University Press

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Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro

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Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1251-1260

Oxford University Press

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

By Klauke Baerbel   Kossmann Sabine   Gaertner Anna   Brand Kristina   Stork Ines   Brodehl Andreas   Dieding Mareike   Walhorn Volker   Anselmetti Dario   Gerdes Dsire   Bohms Birte   Schulz Uwe   zu Knyphausen Edzard   Vorgerd Matthias   Gummert Jan   Milting Hendrik  

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Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

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Human Heredity, Vol. 50, Iss. 3, 2000-02 ,pp. : 166-170

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