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The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
(2016)
Abstract
Background
Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several ...
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation
(Elsevier, 2020)
Dysferlinopathy is a genetic human disease caused by mutations in the gene that encodes the dysferlin protein (DYSF). Dysferlin is believed to play a relevant role in cell membrane repair. However, in dysferlin-deficient ...
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle
(American Society for Investigative Pathology, 2010)
Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients
(WILEY-LISS, 2008)
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
(John Wiley and Sons Inc., 2019)
© 2018 Wiley Periodicals, Inc.Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood. Methods: Fibroadipose infiltration ...