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.
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Showing 1 to 20 of 104 for “"Duchenne"”.
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Carrier detection in Duchenne muscular dystrophy
… carriers of the lethal, X- linked gene for Duchenne muscular dystrophy (DMD) is of importance for genetic counselling purposes. At present the accepted most reliable test for determining DMD carrier status is the estimation of serum creatine kinase activity. However, approximately one third …
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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. …
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Targeting Duchenne muscular dystrophy with CRISPR base editors
Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2025-12-01
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Duchenne muscular dystrophy in South Africa : molecular aspects
… School, Observatory, Cape Town, South Africa. Duchenne muscular dystrophy (DMD) is a lethal X-linked neuromuscular disorder, characterised by progressive muscle wasting and weakness. DMD has its onset in early childhood, leading to physical handicap by the mid-teens and usually death by the age …
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Gentherapeutische Ansätze zur Behandlung der Muskeldystrophie vom Typ Duchenne
Die multipotente Natur der von der Skelettmuskulatur abstammenden SP-Zellen ist anhand ihres hämatopoetischen und myogenen Potenzials demonstriert worden. Über das Ursprunggewebe dieser Zellen ist allerdings wenig bekannt. Hierzu wurden in dieser Arbeit Untersuchungen durchgeführt, die das …
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Genetic Correction of Duchenne Muscular Dystrophy using Engineered Nucleases
<p>Duchenne muscular dystrophy (DMD) is a severe hereditary disorder caused by a loss of dystrophin, an essential musculoskeletal protein. Decades of promising research have yielded only modest gains in survival and quality of life for these patients and there have been no approved gene therapies …
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Klinische Bedeutung der Kardiomyopathie bei Muskeldystrophie Duchenne und Becker-Kiener
… der Kardiomyopathie bei der Muskeldystrophie Duchenne (DMD) und Becker-Kiener (BMD)zu untersuchen. Dazu wurde in der Muskeldystrophie-Ambulanz eine standardisierte Querschnittsuntersuchung (EKG, 24h-EKG, Echo) sowie eine retrospektive Analyse der Krankengeschichte der Patienten durchgeführt. …
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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 …
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Functioning among Taiwanese Families with a Child Having Duchenne Muscular Dystrophy
… among Taiwanese families with a child having Duchenne Muscular Dystrophy (DMD). This research investigated the level of a child's mobility upon family hardiness, functioning, and support from a family perspective. A total sample of 126 of participants was parents of children with DMD. Parents …
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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 …
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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 …
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Exon skipping therapy for Duchenne Muscular Dystrophy with CRISPR base editors
Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2024-05-01
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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 …
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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 …
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Aorta-derived mesoangioblasts for cell therapy of cardiomyopathy in Duchenne Muscular Dystrophy
… disease in which multiple tissues are affected. Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease, and patients with DMD do not survive beyond their early 30s. The most common causes of the death in DMD patients are cardiac and respiratory failure. Currently, there are advanced …
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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 …
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Duchenne muscular dystrophy and extraocular muscle: a potential sparing mechanism with therapeutic implications.
… the muscles from pathology associated with Duchenne Muscular Dystrophy (DMD). Mouse models of muscular dystrophy and wild type mice were analyzed by flow cytometry and cell culture for the size, heterogeneity and functional characteristics of stem and satellite cell populations of EOM and …
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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 …
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