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Tesi sul tema "Duchenne muscular dystrophy"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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1

Rabinowitz, Adam Howard. "Antisense therapies for Duchenne muscular dystrophy." Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.444590.

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2

Smith, T. J. "Molecular analysis of Duchenne muscular dystrophy." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233559.

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3

Hodgson, Shirley V. "Genetic studies in Duchenne muscular dystrophy." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235878.

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4

Wakefield, Philip M. "Gene therapy for duchenne muscular dystrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365743.

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5

Koppaka, Sisir. "Imaging biomarkers for Duchenne muscular dystrophy." Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/106959.

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Thesis: S.M., Massachusetts Institute of Technology, School of Engineering, Center for Computational Engineering, Computation for Design and Optimization Program, 2015.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 75-78).<br>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. Accurate, practical, and painless tests to

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6

Tay, Shaun Li Jian. "Duchenne Muscular Dystrophy—Insight and Treatment." Thesis, The University of Arizona, 2015. http://hdl.handle.net/10150/595055.

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Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive degeneration of muscle fibers and dystrophic changes on muscle biopsy¹. DMD accounts for approximately 50% of all dystrophinopathies, with around 21,000 male babies born with the disease each year², ³, ⁴, ⁵. It is also the most lethal X-linked recessive disorder as phenotypic traits are not immediately present at birth¹¹, ³. Patients usually do not live past their 20's without medical intervention to treat associated respiratory and cardiac dysfunctions¹¹, ³. For these reasons DMD remains one of the greatest t

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7

vianello, sara. "Molecular modifiers in Duchenne muscular dystrophy." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426720.

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Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disease affecting 1:3500 –1/5000 boys at birth. It is caused by the absence of dystrophin, a subsarcolemmal protein that confers membrane stability linking cytoskeletal actin to the extracellular matrix. Dystrophin is part of a multi-protein complex called dystrophin associated protein complex (DAPC), which contains, among the other components, β-dystroglycan and nitric oxide synthase (NOS). The consequences of the absence of dystrophin are: deregulation of calcium homeostasis, tissue necrosis, and progressive accumulat

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8

Coovert, Daniel David. "Analysis of dystrophin in duchenne muscular dystrophy and SMN in spinal muscular atrophy /." The Ohio State University, 1998. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487951595500021.

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9

Smith, Philip E. M. "Breathing during sleep in Duchenne muscular dystrophy." Thesis, University of Liverpool, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235539.

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10

Babaria, Arati. "Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612573.

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Abstract (sommario):

Duchenne muscular dystrophy is an inherited, X-linked recessive skeletal muscle disorder that is characterized by mutations in the dystrophin gene [1]. Therefore, the disease affects primarily males and women are typically carriers. 1 in 3500 males in the United States are affected [1]. Dystrophin is a critical, large scaffolding protein in the dystrophin-glycoprotein complex found at the sarcolemma of skeletal muscle [1]. The complex helps maintain sarcolemma integrity and stability during muscle contractions by coupling the extracellular matrix proteins to the intracellular cytoskeleton in s

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11

Skyrme, Sarah Louise. "Research decisions : living with Duchenne muscular dystrophy." Thesis, University of Newcastle upon Tyne, 2014. http://hdl.handle.net/10443/2678.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy that affects males. Muscle deterioration leads to increasing levels of disability during childhood and adolescence, with death commonly occurring in the late teens or early twenties, although changes in care and treatment are leading to increasing numbers of boys with DMD living into adulthood. Parents and parent-led charities are raising funds to find effective treatments and a cure, and much of the medical research they promote requires the participation of those with DMD. This raises questions about children and young

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12

Abmayr, Simone. "Gene therapy for muscular dystrophy using secondary modifiers of the dystrophic phenotype." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=973452595.

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13

Dunant, Patrick. "Strategies for Molecular Therapy of Duchenne Muscular Dystrophy." Diss., lmu, 2003. http://nbn-resolving.de/urn:nbn:de:bvb:19-12429.

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14

Bia, Britta Lydia. "Cardiomyopathy in mouse models of Duchenne muscular dystrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301799.

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15

Winnard, Alissa Vira. "Exception patients in Duchenne and Becker muscular dystrophy /." The Ohio State University, 1993. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487847309050842.

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16

Fusto, Aurora. "Genetic and clinical modifiers in Duchenne muscular dystrophy." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3423193.

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Abstract (sommario):

La distrofia muscolare di Duchenne (DMD) è una malattia neuromuscolare causata da mutazioni del gene codificante per la distrofina (DMD) che ne impediscono la produzione. Sebbene tutti i pazienti affetti da DMD condividano lo stesso difetto biochimico di distofina, a livello fenotipico è osservabile una grande varietà in termini di progressione della malattia, ad esempio nell'età di perdita della deambulazione o nell'età di insorgenza di complicanze cardiache e respiratorie. Questa variabilità è dovuta a diversi fattori, alcuni di origine ambientale (ad esempio la qualità delle cure a cui hann

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17

Judge, Luke Milburn. "Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex in skeletal muscle /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/4989.

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18

Pearce, Marcela. "Genomic structure of the human utrophin gene." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318897.

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19

Woolf, Peter James. "Cardiac calcium handling in the mouse model of Duchenne Muscular Dystrophy." University of Southern Queensland, Faculty of Sciences, 2003. http://eprints.usq.edu.au/archive/00001525/.

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The dystrophinopathies are a group of disorders characterised by cellular absence of the membrane stabilising protein, dystrophin. Duchenne muscular dystrophy is the most severe disorder clinically. The deficiency of dystrophin, in the muscular dystrophy X-linked (mdx) mouse causes an elevation in intracellular calcium in cardiac myocytes. Potential mechanisms contributing to increased calcium include enhanced influx, sarcoplasmic reticular calcium release and\or reduced sequestration or sarcolemmal efflux. This dissertation examined the potential mechanisms that may contribute to an intracell

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20

Johansson, Camilla. "Exploring genotype to phenotype correlations in Duchenne muscular dystrophy." Thesis, KTH, Skolan för bioteknologi (BIO), 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-215302.

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21

Roberts, Thomas C. "Duchenne muscular dystrophy : RNA-based therapeutics and microRNA biology." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:f53ea1f3-92db-4f90-ba95-01f2a56eae8f.

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Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder caused by absence of functional dystrophin protein. This thesis describes investigations into the role of small non-coding RNAs in both DMD pathology, and as potential therapeutic molecules. MicroRNAs (miRNAs) are a class of small RNAs that regulate gene expression and are implicated in wide-ranging cellular processes and pathological conditions. This study has compared differential miRNA expression in proximal and distal limb muscles, diaphragm, heart and serum in the mdx dystrophic mouse model relative to wild-type co

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22

Geisemeyer, Sarah. "Duchenne muscular dystrophy : a genetic, cognitive and psychosocial approach." Thesis, Kingston University, 2017. http://eprints.kingston.ac.uk/40678/.

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Duchenne muscular dystrophy (DMD) is a severe, progressive muscle wasting disorder that affects 1 in 3600 male births. It is caused by genetic mutations in the dystrophin gene. This study investigated several aspects of the neuromuscular disorder within a population of Brazilian DMD boys and their families. This study's framework was laid out within the prism of an interacting cycle of genetic factors, cognitive functioning, and psychosocial aspects that underlie the neuromuscular disorder. It focuses on DMD's aetiology, history and previous research on genetic, cognitive and psychosocial aspe

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23

Buser, Karen N. Kamiri. "Parental Attitudes Regarding Newborn Screening for Duchenne Muscular Dystrophy." Case Western Reserve University School of Graduate Studies / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=case1307627473.

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24

Reza, Mojgan. "Engineering and optimisation of mini-dystrophin constructs for Duchenne muscular dystrophy gene therapy." Thesis, University of Newcastle upon Tyne, 2015. http://hdl.handle.net/10443/2827.

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Abstract (sommario):

Muscular dystrophies (MDs) are inherited disorders characterised by muscle weakness and atrophy. One of the most severe forms is Duchenne muscular dystrophy (DMD) which together with the milder allelic form Becker muscular dystrophy (BMD) are known as the dystrophinopathies and result from defects in the X-linked gene encoding dystrophin. Dystrophin is a structural protein of the muscle that connects the internal cytoskeleton of muscle fibres to the extracellular matrix. DMD is also amongst the most common forms of muscular dystrophy, affecting ~1 in 4000 live male birth and manifests as rapid

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25

Moura, Maria Clara Drummond Soares de. "Alterações atencionais na distrofia muscular de duchenne." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/47/47135/tde-31072009-151351/.

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A Distrofia Muscular de Duchenne (DMD) é uma doença de herança genética recessiva que gera um quadro de fraqueza muscular progressiva muitas vezes associada à deficiência mental. A atenção, considerada como o mecanismo cerebral que permite o processamento de uma informação em detrimento de outras, poderia estar alterada na doença contribuindo pelo menos em parte para o comprometimento cognitivo global observado. OBJETIVO: Investigou-se o desempenho atencional de meninos portadores de DMD utilizando-se testes psicofísicos específicos. MÉTODOS: Testou-se 30 meninos com DMD (GD) e 30 meninos saud

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26

Lekan, Jaimy Marie. "Exercise-induced mechanisms of muscle adaptation in mdx mice." The Ohio State University, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=osu1095372379.

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27

Burkhardt, Katinka. "Generation of a tailored pig model of Duchenne muscular dystrophy." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-142430.

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28

Thomas, Karen. "The mdx mouse as a model for Duchenne muscular dystrophy." Thesis, University of Cambridge, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.386990.

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29

Terry, Rebecca Louise. "Modification of skeletal muscle phenotype to treat Duchenne muscular dystrophy." Thesis, Royal Veterinary College (University of London), 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.618307.

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30

HARNOIS, MELISSA. "ANALYSIS OF MYOGENIC MARKERS IN DUCHENNE MUSCULAR DYSTROPHY CELL MODELS." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612963.

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The goal of this study is to compare the in vitro differentiation potential of Duchenne Muscular Dystrophy (DMD) and non-diseased patient-derived skeletal muscle myoblasts during myogenesis. The differentiation and fusion of myoblasts into multinucleate myotubes and the maturity of these myotubes was assessed based on morphology, immunohistochemistry (IHC) analysis of myotubes, as well as transcript profiles of myogenic markers. Human skeletal muscle myoblasts derived from three non-diseased and three DMD human patients were evaluated in multiple time course studies. Morphological evalua

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31

Wells, Kim Elizabeth. "Optimisation of constructs for gene therapy of Duchenne muscular dystrophy." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392669.

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32

Al-khalidi, Rasha. "P2RX7 purinoceptor as a therapeutic target in Duchenne muscular dystrophy." Thesis, University of Portsmouth, 2017. https://researchportal.port.ac.uk/portal/en/theses/p2rx7-purinoceptor-as-a-therapeutic-target-in-duchenne-muscular-dystrophy(7560e450-c050-41a0-a3a5-553ed42d6710).html.

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Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease in men and currently there is no effective treatment for this debilitating and lethal disorder. Although the absence of dystrophin is identified as the main cause of DMD, multiple secondary changes have been found to result from the dystrophin deficiency both in muscle and in non-muscle tissues. Among these abnormalities, our laboratory and others have demonstrated a dramatic increase in the expression of the P2RX7 receptor in cells and tissues from DMD patients and the mdx mouse model of DMD. The aim of this study w

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33

Bagdatlioglu, Emine. "Investigating the brain in mouse models of Duchenne muscular dystrophy." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3931.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle wasting disease caused by mutations in the DMD gene, which encodes the large cytoskeletal protein dystrophin. Alongside severe muscle pathology, one-third of DMD patients exhibit cognitive problems ranging from reduced verbal intelligence to severe autism. There is conclusive evidence that the muscle pathology exhibited by DMD patients is progressive, yet it remains unknown whether the cognitive impairments in DMD are also progressive. Previous studies have highlighted a cognitive impairment in the mdx mouse model of DMD, but no

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34

Jaber, Abbass. "Lysosomal defects in Duchenne muscular dystrophy : advancing combined therapeutic approaches." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL055.

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Abstract (sommario):

La dystrophie musculaire de Duchenne (DMD) est une maladie musculaire dégénérative touchant principalement les jeunes garçons, caractérisée par la perte de l'expression fonctionnelle de la dystrophine. Bien que la thérapie génique visant à restaurer une forme tronquée fonctionnelle de la dystrophine, appelée µ-dystrophine, ait montré des résultats prometteurs dans les études précliniques, son efficacité thérapeutique chez les patients DMD traités reste limitée, nécessitant des améliorations urgentes. Le travail présenté dans cette thèse vise d'abord à améliorer notre compréhension des perturba

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35

Burt, Matthew. "Resveratrol as a Novel Therapeutic Agent for Treating Duchenne Muscular Dystrophy." Thèse, Université d'Ottawa / University of Ottawa, 2013. http://hdl.handle.net/10393/26273.

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Abstract (sommario):

Duchenne Muscular Dystrophy (DMD) is an x-linked neuromuscular disease that is caused by an absence of dystrophin protein, rendering skeletal muscle more susceptible to contraction-induced damage. One therapeutic strategy focuses on increasing the expression of endogenous utrophin A, a dystrophin homologue. Interestingly, slow muscle is more resistant to the dystrophic pathology and has increased utrophin A expression (Webster 1998; Gramolini 2001b). These observations led researchers to explore the therapeutic potential of stimulating the slow, oxidative myogenic program (SOMP) in the mdx co

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36

Betts, Corinne A. "Exon skipping peptide-pmos for correction of dystrophin in mouse models of duchenne muscular dystrophy." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:545d586a-ad7b-4089-8537-b2677957b874.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is a fatal, muscle-wasting disorder due to mutations/deletions in the dystrophin gene. Whilst improvements in palliative care have increased the life expectancy of patients, cardiomyopathy and respiratory complications are still the leading causes of death. A potential therapy for the treatment of DMD is antisense oligonucleotides (AOs), which modulate dystrophin pre-mRNA splicing to restore the dystrophin reading frame and generate a truncated functional protein. Conjugation of AOs to cell penetrating peptides (CPP), such as Pip5e-, significantly improves del

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37

Webster, Richard Ian School of Women &amp Children's Health UNSW. "Respiratory function as a measure of muscle strength in young boys with Duchenne Muscular Dystrophy." Awarded by:University of New South Wales. School of Women and Children's Health, 2003. http://handle.unsw.edu.au/1959.4/19206.

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AIMS: To evaluate the use of Manual Muscle Strength Tests (MMST), Timed Functional Tests (TFT) and Respiratory Function Tests (RFT) as measures of muscle strength in young boys with Duchenne Muscular Dystrophy (DMD) and specifically to evaluate the use of Peak Expiratory Flow (PEF). BACKGROUND: There is a need to measure the effect of treatments that potentially increase muscle strength in DMD. PEF may have advantages over Vital Capacity (VC) as a measure of respiratory function in young boys with DMD. METHODS: 17 boys with DMD (aged 5-10 years) were assessed regularly over one year. Assessmen

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38

Parsons, Evelyn P. "Living with Duchenne muscular dystrophy : women's understandings of diability and risk." Thesis, Cardiff University, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.293022.

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39

Taktak, Diane M. "A lightweight modular knee-ankle-foot orthosis for Duchenne muscular dystrophy." Thesis, University of Salford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261992.

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40

Lloyd, Amy. "Duchenne muscular dystrophy and reproductive decision-making : implications of newborn screening." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/55904/.

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Newborn screening programmes once focused on identifying treatable conditions. In recent years, increasing numbers of untreatable genetic conditions have been included in newborn screening programmes, on the premise that families will benefit from the provision of information, support and reproductive choice. However, there is a paucity of research documenting families' experiences of newborn screening and the implications of screening for untreatable conditions. This study focuses on one untreatable condition, Duchenne muscular dystrophy (DMD). Using both quantitative and qualitative methods,

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41

Xu, Ying. "Dynamic Regulation of Cardiac Contractility & Cardiomyopathy in Duchenne Muscular Dystrophy." The Ohio State University, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=osu1306518289.

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42

Chadwick, Jessica Ann. "Mineralocorticoid Receptors: A Novel Therapeutic Target for Treating Duchenne Muscular Dystrophy." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1468946734.

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43

Blubaugh, Victoria G. "Self-concept in siblings of chronically ill children : Duchenne muscular dystrophy /." The Ohio State University, 1986. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487265555440494.

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44

Hogarth, Marshall William. "α-Actinin-3: a novel genetic modifier of duchenne muscular dystrophy". Thesis, The University of Sydney, 2013. http://hdl.handle.net/2123/10458.

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Homozygosity for a common null polymorphism (R577X) in the ACTN3 gene results in deficiency of the fast muscle fiber protein, α-actinin-3, in ~18% of the world’s population. ACTN3 genotype significantly influences muscle performance in elite athletes and in the general population. There is also considerable inter-patient variability in Duchenne muscular dystrophy (DMD), some of which is caused by the modifying effects of genes independent of the causative mutation in dystrophin. On this basis, we tested ACTN3 as a genetic modifier of DMD. Here we show that α-actinin-3 deficiency significantly

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45

Laws, Nicola. "Characterisation and strategic treatment of dystrophic muscle." University of Southern Queensland, Faculty of Sciences, 2005. http://eprints.usq.edu.au/archive/00001457/.

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The mdx mouse is widely used as a model for Duchenne Muscular Dystrophy, a fatal X-linked disease caused by a deficiency of the sub-sarcolemmal protein, dystrophin. This dissertation reports characterisation of the features of dystrophy in the mdx mouse, including parameters such as electrophysiological and contractile properties of dystrophic cardiac tissue, quantitative evaluation of kyphosis throughout the mdx lifespan, and contractile properties of respiratory and paraspinal muscles. Following these characterisation studies, the efficacy of antisense oligonucleotides (AOs) to induce altern

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46

Al-Rewashdy, Hasanen. "Determining the Contribution of Utrophin A Versus Other Components of the Slow, Oxidative Phenotype in the Beneficial Adaptations of Dystrophic Muscle Fibers Following AMPK Activation." Thesis, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/31470.

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Abstract (sommario):

Duchenne Muscular Dystrophy (DMD) results from the absence of a functional dystrophin protein. Among its possible therapeutic options is the upregulation of dystrophin’s autosomal analogue, utrophin A. This can be achieved by a pharmacologically induced shift towards a slower, more oxidative skeletal muscle phenotype, which has been shown to confer morphological and functional improvements on models of DMD. Whether these improvements are a result of the utrophin A upregulation or other beneficial adaptations associated with the slow, oxidative phenotype, such as improved autophagy, has not bee

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47

Deol, Jatinderpal. "Development of helper-dependent adenovirus for gene expression in muscle." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33745.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is characterized by necrosis and progressive loss of muscle fibers. DMD patients have a mutation in the gene encoding dystrophin, a large membrane-associated cytoskeletal protein on the cytoplasmic side of the sarcolemma. Gene therapy using fully deleted adenoviral vectors shows great potential for the eventual treatment of DMD and other genetic diseases. These vectors are less immunogenic than their predecessors and have the capacity to carry large DNA inserts such as the full-length dystrophin (12 kb). However, the lack of viral genes results in a weakened a

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48

Turner, Sally Ann. "Analysis of dystrophic mdx muscle following the implantation of normal dermal fibroblasts." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271623.

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49

Thanh, Le Thiet. "Exon-specific monoclonal antibodies against dystrophin." Thesis, University of Salford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261661.

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50

Hoskin, Janet Ann. "Seeing beyond the wheelchair : learning and behaviour issues and intervention in Duchenne Muscular Dystrophy." Thesis, Swansea University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.678285.

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