Associated Papers
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
Transiently structured head domains control intermediate filament assembly.
Zhou X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
Sharma S et al.
Cell Stress & Chaperones, 2017
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Autophagic vacuolar pathology in desminopathies.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2015
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A et al.
Circulation. Cardiovascular Genetics, 2013
Nebulin binding impedes mutant desmin filament assembly.
Baker LK et al.
Molecular Biology of the Cell, 2013
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
Sharma S et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica EC et al.
Neuromuscular Disorders : Nmd, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D et al.
Brain : a Journal of Neurology, 2004