Results 171 to 180 of about 18,110 (202)
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New roles for desmin in the maintenance of muscle homeostasis
FEBS Journal, 2022Harald Herrmann, Shenhav Cohen
exaly
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Human mutation, 2001Desmin-related myopathy is a familial or sporadic disease characterized by skeletal muscle weakness and cardiomyopathy as well as the presence of intracytoplasmic aggregates of desmin-reactive material in the muscle cells. Previously, two kinds of deletions and eight missense mutations have been identified in the desmin gene and proven to be ...
Goudeau, Bertrand +8 more
openaire +2 more sources
A novel mutation in desmin gene causing desmin myopathy (3020)
Neurology, 2021Swathi Beladakere Ramaswamy +3 more
openaire +1 more source
Post-translational modifications of intermediate filament proteins: mechanisms and functions
Nature Reviews Molecular Cell Biology, 2014Natasha T Snider, M Bishr Omary
exaly