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

By Xue Z.  

Human Molecular Genetics, Vol. 12, Iss. 6, 2003-03 ,pp. : 657-669

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

By Bär Harald  

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

Oxford University Press

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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  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4595-4607

Oxford University Press

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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

Karger

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