Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 20 of 21 for “"Muscular Dystrophy, Duchenne"”.
-
Precision Gene Editing for Muscle Diseases
… as well as short insertions and deletions. Duchenne muscular dystrophy (DMD), a fatal neuromuscular disease of progressive muscle weakness and wasting, is caused by mutations in the DMD gene on the X chromosome, resulting in a lack of dystrophin protein. Affected individuals typically do not …
-
Durability and Longevity of Gene Edited DMD Skeletal Muscle
The content of this work is adapted with or without modifications from the previously published articles that are cited below. Sections that have been reproduced from previously published work have been clearly indicated at the beginning of each section.
-
Prevention of Duchenne Muscular Dystrophy by CRISPR/Cas Therapeutic Genome Editing
… a profound and systemic impact on human health. Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder, caused by mutations in the DMD gene on the X chromosome, which consists of 79 exons encoding dystrophin protein. Patients with DMD develop progressive muscle weakness and …
-
Optimization of an in vitro model to study Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is the most common inherited muscle disease, affecting 1 out of 5000 male live births. DMD pathology results from genetic and biochemical defects in the dystrophin-glycoprotein complex causing membrane instability, and accordingly, muscle fragility, apoptosis and …
-
Two Fingers: Michael's Struggle
… the life of Michael Alan Rasch who suffers from Duchenne Muscular Dystrophy. It explains in detail the process of pre-production, production, and post-production of the documentary. It also discuses the integration of theories applied in the documentary. Two Fingers shows that although Michael …
-
The Role of Membrane Lipid Composition on Skeletal Muscle Damage in the Rodent Model of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a X-linked muscle disease, which leads to alterations in membrane phospholipid fatty acid (FA) composition and skeletal muscle damage. Increased membrane saturated FA in muscular dystrophy may suggest its association with increased susceptibility (as being the cause …
-
Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common and severe of the dystrophies, with an incidence of 1 in 3500 live male births, worldwide. Becker Muscular dystrophy (BMD) has a lower incidence of approximately 1 in 17500 births, a milder progression and longer life expectancy. Many …
-
Molecular Enhancement of Alpha 7 Integrin to Ameliorate Muscular Dystrophy
Duchenne muscular dystrophy is the most common form of muscular dystrophy and it is lethal; most patients dye before their early twenties. This disease is caused by mutations in the gene encoding dystrophin, a member of the dystrophin protein complex that links the extracellular matrix to the …
-
Identification of a first in-class integrin enhancing small molecule for the treatment of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a catastrophic X-linked neuromuscular disease that affects 1 in every 5000 males. DMD is caused by mutations in the dystrophin gene which results in the loss of dystrophin protein, an essential link between the extracellular matrix and the actin cytoskeleton. …
-
Admittance control of the intelligent assist robot manipulator for people with duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD), a neuromuscular disease with a prevalence of 1 in 3500 male births, results in characteristic muscle weakness which is progressive with age and leads to loss of independence. And, in this population, maintaining optimal quality of life depends on the preservation …
-
Imaging biomarkers for Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood and affects 1 in 3600 male births. The disease is caused by mutations in the dystrophin gene leading to progressive muscle weakness which ultimately results in death due to respiratory and cardiac failure. …
-
Cardiorespiratory abnormalities in early and advances stage mouse models of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked severe muscle disease caused by dystrophin gene mutations affecting 1 in 3,500 newborn males worldwide every year. DMD is characterized by progressive skeletal muscle degeneration and weakness. In advanced disease, respiratory insufficiency and …
-
Effects of mutant SHP2 expression on heart function in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy that is caused by a mutation in the dystrophin gene which is located on the X chromosome. DMD affect 1 in 3,600 males at birth. Due to recent advancements in treatment of the skeletal muscle disease, patients with DMD have …
-
Proteomic Profiling of the mdx Animal Model for Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is a lethal childhood disorder which results in progressive muscle weakness and wasting due to genetic abnormalities in the dystrophin gene. While the primary abnormality lies with the loss of the crucial membrane cytoskeletal protein dystrophin and the reduction of its …
-
Investigating the role of interleukin-6 in neuronal dysfunction in the mdx mouse model of Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a fatal musculoskeletal disorder that results in a loss of dystrophin in muscle fibres, leading to progressive immobility, chronic inflammation and premature death. Inflammation is characterised by increased circulating levels of pro-inflammatory cytokines such …
-
Immune and stress factors in the pathophysiology of the mdx mouse model of Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a fatal multi-system neuromuscular disease caused by loss of dystrophin. The loss of dystrophin from membranes of contractile muscle cells and the dysregulation of the DAPC, induces chronic inflammation due to tissue necrosis and eventual replacement with …
-
Proteomic Characterisation of the mdx-4cv mouse model of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a highly complex multi-system disorder caused by primary abnormalities in the Dmd gene encoding the membrane cytoskeletal protein dystrophin. The resulting loss of the dystrophin protein triggers a concomitant disintegration of the dystrophin-associated glycoprotein …
-
Targeting transcriptional and translational mechanisms to enhance utrophin A expression as a therapy for Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a fatal, neuromuscular disorder caused by mutations/deletions in the dystrophin gene. In skeletal muscle, dystrophin is expressed along the sarcolemma, providing a mechanical link between the cytoskeleton and the extracellular matrix; loss of dystrophin results …
-
Characterizing RyR and SERCA function in the C57 and D2 mdx mouse models of Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a male-affected muscle wasting disease caused by the complete loss of the sarcolemmal protein dystrophin. No cure exists and patients typically succumb to cardiorespiratory issues in the third or fourth decade of life. Dystrophin loss also leads to dysfunction …
-
Chronic Dietary Supplementation of Branched-Chain Amino Acids Does Not Attenuate Muscle Torque Loss in a Mouse Model of Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive, progressive muscle-wasting disease characterized by mutations in the dystrophin gene. Duchenne muscular dystrophy is the most common and most severe form of inherited muscle diseases, with an incidence of 1 in 3,500 male births1,2. …
Page 1 of 2