Results 21 to 30 of about 48,181 (245)
Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]
Acta Physiol (Oxf)ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Guennec BE +12 more
europepmc +2 more sources
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core +1 more source
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
core +2 more sources
Disease Models & Mechanisms, 2020 Dystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC).
Naomi Teramoto +12 more
doaj +1 more source
Blastocyst injection of wild type embryonic stem cells induces global corrections in mdx mice. [PDF]
PLoS ONE, 2009 Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features.
Elizabeth Stillwell +14 more
doaj +1 more source
Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core +3 more sources
Functional characterization of orbicularis oculi and extraocular muscles [PDF]
, 2016 The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David +5 more
core +2 more sources
eLife, 2015 Dystrophin forms an essential link between sarcolemma and cytoskeleton, perturbation of which causes muscular dystrophy. We analysed Dystrophin binding dynamics in vivo for the first time.
Fernanda Bajanca +7 more
doaj +1 more source
Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]
, 2019 Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder +4 more
core +2 more sources
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +2 more sources