Global ETD Search
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Showing 1 to 20 of 163 for “"Muscular Dystrophy"”.
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Progressive muscular dystrophy in childhood
… they were nearly a century ago. My interest in muscular dystrophy started in 1957 when, as Senior House Officer at Queen Mary's Hospital for Children, Carshalton, Surrey, I first observed a large number of children suffering from this tragic disease. The frustration of helplessly, watching its …
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Carrier detection in Duchenne muscular dystrophy
… 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 of …
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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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Molecular genetic investigation of autosomal dominant muscular dystrophy
… skeletal muscle diseases, including the muscular dystrophies investigated here. Microsatellite, VNTR and RFLP markers were used in a search for linkage to a novel form of distal myopathy segregating in a Western Australian family. The decadic logarithm of the likelihood ratio, or 'lod …
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An Alpha7beta1 Integrin-Based Treatment of Muscular Dystrophy
… Disruption of either linkage system leads to muscular dystrophy in humans and mice. To determine if the integrin complex can compensate for the lack of the dystrophin protein complex, transgenic mice were made to produce elevated levels of the alpha7 integrin chain. The transgene was …
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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
… 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 of …
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Exploring the role of inflammation in facioscapulohumeral muscular dystrophy
Contains fulltext : 319738.pdf (Publisher’s version ) (Open Access)
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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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The Alpha7beta1 Integrin in Skeletal Muscle and Muscular Dystrophy
… therapeutic approach for treating Duchenne muscular dystrophy as it can reinforce the association between the extracellular matrix and actin cytoskeleton without interfering with normal cell functions or gene expression. In this dissertation I also demonstrate that beta1 integrin is a …
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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 …
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Prevention of Duchenne Muscular Dystrophy by CRISPR/Cas Therapeutic Genome Editing
… 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 cardiomyopathy, …
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Functioning among Taiwanese Families with a Child Having Duchenne Muscular Dystrophy
… 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 completed …
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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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Studies of Fast Axoplasmic Transport in Animals With Genetic Muscular Dystrophy
Made available in DSpace on 2014-12-14T04:27:37Z (GMT). No. of bitstreams: 1 7714983.pdf: 5521353 bytes, checksum: 040f89fc2a547e27ded0b2e34de31ade (MD5) Previous issue date: 1977
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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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Balance and gait in facioscapulohumeral muscular dystrophy. Relations with individual muscle involvement
Contains fulltext : 147492.pdf (Publisher’s version ) (Open Access)
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