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 329 for “"atrophy"”.
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The pathophysiology of spinal muscular atrophy
… of motor dysfunction in spinal muscular atrophy (SMA) using clinical, epidemiological, neurophysiological and genetic studies. Natural history studies confirmed the unique clinical course, atypical for a neurodegenerative disease, in which progression appeared most rapid initially and …
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Drosophila Model to Study Muscle Atrophy
<p>Muscle atrophy (MA) is a phenomenon of muscle mass loss due to accelerated protein degradation in muscle fibers. Some pathological conditions, such as chronic inflammation or cancer, induce accelerated MA, which complicates medical treatment, hampers recovery of fragile patients, and ultimately …
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Spinal Muscular Atrophy: Evidence of a Multi-System Disease
Spinal muscular atrophy (SMA) is a devastating recessive neurological disorder thought to be affecting primarily the motor neurons. As such, paralysis, motor weakness and death ensue. While SMA is most commonly seen in infants and children, it can span all ages. Its genetic etiology revolves around …
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Gene therapy in mouse models of spinal muscular atrophy :
Spinal Muscular Atrophy (SMA), an autosomal recessive neuromuscular disorder, is the leading genetic cause of infant mortality. SMA is caused by the functional, homozygous loss of the Survival Motor Neuron-1 (SMN1) gene which encodes for the ubiquitously expressed Survival Motor Neuron (SMN) …
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Novel RNA Targets of the Spinal Muscular Atrophy Protein
… protein, the disease gene in spinal muscular atrophy (SMA). SMN is part of a macromolecular protein complex and catalyzes the assembly of a heptameric core of Sm proteins onto small nuclear RNAs (snRNAs) to form spliceosomal snRNPs required for RNA splicing. The Sm and Sm-like (LSm) proteins …
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Cellular signalling pathways involved in muscle atrophy in cancer cachexia
… weight loss, characterised by the debilitating atrophy of adipose and skeletal muscle mass. Skeletal muscle proteolysis in cancer cachexia is mediated by a sulphated glycoprotein with a relative molecular mass of 24kDa, termed Proteolysis-Inducing Factor (PIF). PIF induced a significant increase …
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Examine the role of minor splicing pathway in spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder mainly caused by deletions or mutations of one gene, Survival Motor Neuron (SMN). SMN is crucial in splicing processes for proper gene expression. Previous studies showed a significant decrease in the levels of minor splicing (U12 …
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Investigation into the mechanisms responsible for muscle atrophy in cancer cachexia
… factor (PIF), which induces skeletal muscle atrophy via increased protein degradation and decreased protein synthesis. The objective of this study was to investigate the signalling pathway by which PIF reduces protein synthesis in skeletal muscle and to determine the link, if any, to the …
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The Application of Mesenchymal Stem Cell therapy on Multiple System Atrophy
Since disease progression in multiple system atrophy(MSA) is much faster and no drug treatment consistently benefits MSA patients in the long-term, neuroprotective or regenerative strategies are inevitable in the management of MSA patients. We divided two group, MSC-treated(n=11) and control …
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Correlation of neuropsychological tests with measures of atrophy in the hippocampal area
… of neuropsychological tests with measures of atrophy in the hippocampal area. The database is from the longitudinal study The nature and progression of mild cognitive impairment study (MCI study), that began in 2014 and it still ongoing. The participants in this study were 145 individuals, …
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SPINAL MUSCULAR ATROPHY ORGANOIDS REVEAL DEVELOPMENTAL DEFECTS RESCUED BY ANTISENSE OLIGONUCLEOTIDES TREATMENT
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in the SMN1 gene. Recent therapies have significantly modified SMA natural course, but treatment efficacy remains variable and the reasons beyond this variability are still largely unexplored. Identifying pre-symptomatic …
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Potential of endothelial progenitors to reverse choroidal atrophy during age related macular degeneration
Pre-clinically ECFCs have already demonstrated a high potential for revascularisation in a number of models, this makes them an attractive candidate for a number of conditions where impaired blood flow is a factor affecting recovery. However, it is still important to consider the pathology that …
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency of the survival motor neuron (SMN) protein. It is characterised by the progressive loss of α-motor neurons (MNs), leading to muscle weakness, atrophy, and in the worst cases death. …
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Comparative Plasma Proteomics in Muscle Atrophy Induced by Cancer Cachexia and Hindlimb Unloading
<p>Introduction: Muscle atrophy results from a dysfunction in protein turnover that leads to loss of mass and function and occurs concurrently with multiple pathologies such as cancer and extended bed rest. Atrophy reduces overall quality of life while increasing morbidity and mortality. Currently, …
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Subacute Hippocampal Atrophy Following Traumatic Brain Injury: Relationship to Environmental Enrichment and Vocational Outcome
… brain injury show bilateral hippocampal atrophy progressing beyond the acute stage post-injury. The present study proposes a novel, integrated model of neuroprotection against subacute hippocampal atrophy (i.e., atrophy occurring beyond the initial 3 months post-injury) via environmental …
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Designing a Quantitative Videofluoroscopic Analysis Approach in Infants with Spinal Muscular Atrophy Type 1
Background: Spinal Muscular Atrophy Type I (SMA 1) is a progressive neuromuscular disorder that causes rapid feeding deterioration in infants. Recent FDA approval of disease-modifying therapies have led to improvements in survival and motor function; however, their effects on bulbar physiology …
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Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a childhood form of motor neuron disease. It is characterised by the loss of lower motor neurons and muscle weakening and atrophy of associated muscles. Motor neurons (MNs) are the primary pathological target of SMA, but it has long been shown that breakdown of …
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