ST Cooper, PL McNeil - Physiological reviews, 2015 - journals.physiology.org
Eukaryotic cells have been confronted throughout their evolution with potentially lethal plasma membrane injuries, including those caused by osmotic stress, by infection from …
V Straub, A Murphy, B Udd, A Corrado, S Aymé… - Neuromuscular …, 2018 - Elsevier
Historically, the classification and nomenclature of diseases has not been systematic and diseases were either classified by cause, presenting symptoms and signs, pathological …
MW Berchtold, H Brinkmeier… - Physiological …, 2000 - journals.physiology.org
Mammalian skeletal muscle shows an enormous variability in its functional features such as rate of force production, resistance to fatigue, and energy metabolism, with a wide spectrum …
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically …
Membrane fusion can occur between cells, between different intracellular compartments, between intracellular compartments and the plasma membrane and between lipid-bound …
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …
S Kröger, B Watkins - Skeletal Muscle, 2021 - Springer
Almost every muscle contains muscle spindles. These delicate sensory receptors inform the central nervous system (CNS) about changes in the length of individual muscles and the …
Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense …
F Rahimov, LM Kunkel - Journal of Cell Biology, 2013 - rupress.org
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …