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 29 for “"Myopathies"”.
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NEW ADVANCES IN QUANTITATIVE RADIOLOGY:MRI IMAGING IN MYOPATHIES
… applied to the diagnosis and characterization of myopathies using magnetic resonance imaging (MRI). The work integrates artificial intelligence (AI), radiomics, and advanced imaging techniques to improve diagnostic accuracy and pattern recognition in muscle diseases. The thesis is structured into …
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Identifying biological pathomechanisms of TTN-affected myopathies using RNA-Sequencing data
The TTN gene is composed of 364 exons (363 coding) and encodes for titin, the largest protein in nature. Pathogenic TTN variants result in a wide spectrum of skeletal muscle and cardiac disorders known as Titinopathies. These differ in inheritance patterns, onset age, disease course and severity. …
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New diagnostic methods for respiratory chain defects in mitochondrial (encephalo)myopathies
Contains fulltext : mmubn000001_231574754.pdf (Publisher’s version ) (Open Access)
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Hypercontraction and Drosophila : a model system for the study of human myopathies
… associated with muscular dystrophies and cardiomyopathies. Development of model systems in which to utilize high-throughput screens for novel compounds will help in drug discovery for these diseases. In addition, genetic model systems will allow us to dissect the molecular and cellular pathways …
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Meat Quality of Broiler Breast Fillets with White Striping and Woody Breast Muscle Myopathies
<p>The global poultry industry has been faced with emerging broiler breast meat quality issues known as white striping and woody breast. Two experiments were conducted to evaluate effects of white striping and woody breast hardness on meat quality traits in broiler breast fillets. Birds were …
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Positioning Microtissues on the Differentiation Continuum Reveals their Utility for Studying Skeletal Myopathies and Metabolic Disease
… platform selection for the study of skeletal myopathies and metabolic disease.
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Mechanisms underlying the development of weakness in idiopathic inflammatory myopathies: an in vitro single muscle fibre contractility study
… part of the spectrum of idiopathic inflammatory myopathies (IIMs). Although the pathogenic mechanisms are different, the unifying feature is that of weakness caused, in some way or another, by an inflammatory attack on muscle. The mechanism by which weakness develops is still unclear, but …
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Prediction and Evaluation of Breast Myopathy
<p>Broiler breast myopathies, including woody breast, white striping, and spaghetti breast, negatively impact the industry. Therefore, evaluation, prediction, and frequency of these muscle abnormalities on modern birds are important for decision making. Modern broilers are not highly active and …
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Delineation of the genotype and phenotype of children presenting with dystrophies, excluding dystrophinophathies, in the Western Cape of South Africa. (2019-2020)
Background Muscular dystrophies (MD) and myopathies are a distinct group of clinically and genetically heterogeneous inherited muscle diseases. They cause muscle weakness often with cardiac, pulmonary, and musculoskeletal dysfunction, leading to reduced longevity. MDs and myopathies present across …
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Responsiveness of Cobb MV × 700 Broilers to Dietary Amino Acid and Energy Density
… have been linked to an increase in breast muscle myopathies such as white striping and woody breast. Therefore, a series of trials were conducted to determine the responsiveness of live performance, carcass characteristics, and breast muscle myopathies of Cobb MV × 700 broilers to dietary AA and …
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Synthesis and Structure-Activity Relationship Studies of 3-(N-Butylethanimidoyl)-4-hydroxy-2H-chromen-2-one (BHC) Analogues for Myosin II Inhibition
The objective of current treatments for various myopathies is to interrupt the signal from the brain to the affected muscle group, providing relief. To prevent unwanted side effects and possible poor drug-drug interactions, the downstream cause of myopathies and muscle movement, myosin II, can be …
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ROLE OF G9A IN SKELETAL MYOGENESIS
… and identify new therapeutic avenues for myopathies arising from compromised muscle function.
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GENERATION OF FULL-LENGTH WILD-TYPE GATA4 PROTEIN AND CHARACTERIZATION OF ITS BINDING TO UNC-45 DOMAINS
… muscle structure, function, and perhaps myopathies.</p>
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… mutations are known to cause autosomal recessive myopathies and the patients have generalized muscle weakness together with neurodevelopmental phenotypes, I concluded that this novel compound hetero zygote NEB mutation might be the disease-causing mutation underlying the patients’ clinical …
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Funktionelle und strukturelle Analysen von Mutationen im Caveolin-3-Gen
… to be responsible for a variety of hereditary myopathies which range from mild forms such as HyperCKemia to severe pheno-types like Limb-girdle muscular dystrophy or the Rippling Muscle Disease. In the context of the present study four different point mutations in the caveolin-3 gene had to be …
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Mutationen bei primären Mitochondropathien und multiple Deletionen der mitochondrialen DNA bei idiopathischen inflammatorischen Myopathien
… genome of patients with idiopathic inflammatory myopathies using long distance PCR and sequencing techniques. The deletions found are unusually large (ca. 10500-12800 bp) and show uncommon 5'-breakpoints between nt800 and nt3326 in the "minor region" of the genome. The atypical location of these …
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Mitochondrial Biology in Sporadic Inclusion Body Myositis
… approximately 1/3 of all idiopathic inflammatory myopathies. It is characterized by progressive weakness of distal and proximal muscles and is the most common muscle disorder in individuals over 50 years of age. Currently, there is no known cause, cure, or enduring treatment for sIBM, although a …
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Regulation of Skeletal Muscle Innervation and ALS Pathogenesis by MicroRNA 206
… gene expression often result in neuropathies and myopathies, reflecting the intimate communication between muscle and motor nerve. In this thesis, I present my studies on the function of microRNAs in neuromuscular synapse regeneration and neurodegenerative disease. First, I show that the …
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Parallels and Divergences in Multisystem Proteinopathy Genes: Stress Granules, Autophagy, and Myogenic Deficits
… may be an emergent feature of inclusion body myopathies. 3) Impaired myogenesis via resistance to the master regulator of myogenesis MyoD, is a feature of MSP.
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