Дисертації з теми "Duchenne muscular dystrophy"
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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.
Повний текст джерелаSmith, T. J. "Molecular analysis of Duchenne muscular dystrophy." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233559.
Повний текст джерелаHodgson, Shirley V. "Genetic studies in Duchenne muscular dystrophy." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235878.
Повний текст джерелаWakefield, Philip M. "Gene therapy for duchenne muscular dystrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365743.
Повний текст джерелаKoppaka, Sisir. "Imaging biomarkers for Duchenne muscular dystrophy." Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/106959.
Повний текст джерелаCataloged from PDF version of thesis.
Includes bibliographical references (pages 75-78).
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 diagnose DMD and measure disease progression are needed in order to test the effectiveness of new therapies. Current clinical outcome measures such as the sixminute walk test and North Star Ambulatory Assessment (NSAA) can be subjective and limited by the patient's degree of effort and cannot be accurately performed in the very young or severely affected older patients. We propose the use of image-based biomarkers with suitable machine learning algorithms instead. We find that force-controlled (precise acquisition at a certain force) and force-correlated (acquisition over a force sweep) ultrasound helps to reduce variability in the imaging process. We show that there is a high degree of inter-operator and intra-operator reliability with this integrated hardware-software setup. We also discuss how other imaging biomarkers, segmentation algorithms to target specific subregions, and better machine learning techniques may provide a boost to the performance reported. Optimizing the ultrasound image acquisition process by maximizing the peak discriminatory power of the images vis-à-vis force applied at the contact force is also discussed. The techniques presented here have the potential for providing a reliable and non-invasive method to discriminate, and eventually track the progression of DMD in patients.
by Sisir Koppaka.
S.M.
Tay, Shaun Li Jian. "Duchenne Muscular Dystrophy—Insight and Treatment." Thesis, The University of Arizona, 2015. http://hdl.handle.net/10150/595055.
Повний текст джерелаvianello, sara. "Molecular modifiers in Duchenne muscular dystrophy." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426720.
Повний текст джерелаCoovert, 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.
Повний текст джерелаSmith, 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.
Повний текст джерелаBabaria, Arati. "Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612573.
Повний текст джерелаSkyrme, Sarah Louise. "Research decisions : living with Duchenne muscular dystrophy." Thesis, University of Newcastle upon Tyne, 2014. http://hdl.handle.net/10443/2678.
Повний текст джерелаAbmayr, 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.
Повний текст джерелаDunant, Patrick. "Strategies for Molecular Therapy of Duchenne Muscular Dystrophy." Diss., lmu, 2003. http://nbn-resolving.de/urn:nbn:de:bvb:19-12429.
Повний текст джерелаBia, 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.
Повний текст джерелаWinnard, Alissa Vira. "Exception patients in Duchenne and Becker muscular dystrophy /." The Ohio State University, 1993. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487847309050842.
Повний текст джерелаFusto, Aurora. "Genetic and clinical modifiers in Duchenne muscular dystrophy." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3423193.
Повний текст джерелаDuchenne muscular dystrophy (DMD) is a neuromuscular disease caused by out-of-frame mutations in the DMD gene resulting in the lack of dystrophin in skeletal muscle fibres. Even though all DMD patients share the same molecular defect, it is possible to observe high variability in the disease's progression, i.e. differences in loss of ambulation age, onset of respiratory and cardiac failure. This variability is due both to environmental and genetic factors. Genetic factors may be divided in cis-acting, nominally the type of DMD mutation, and trans-acting, or modifier SNPs. These are polymorphisms in genes, different from the causative DMD, that have and effect on the phenotype. There are several modifier SNPs known to alter age at loss of ambulation. These are: rs28359074 in SPP1, rs2303729, rs1131620, rs1051303 e rs10880 in LTBP4, rs1883832 e rs6074022 in CD40, rs1815739 in ACTN3, rs2725797 e rs2624259 in THBS1. The main goal of my PhD was the study of clinical and genetic variability in DMD, through in vitro and observational retrospective studies. We carried an in vitro research to verify the interaction of rs28357094 in SPP1, that codifies for osteopontin (OPN), and glucocorticoids treatment (Deflazacort) in primary myoblasts and myotubes derived from healthy individuals and DMD patients. We found that OPN is overexpressed in rs28357094 TG genotype myotubes, compare to TT genotype. Moreover, deflazacort treatment induces an increase in OPN production in TG myotubes. These results confirmed the interaction between rs28357094 and glucocorticoids treatment. Afterwards, we studied the effect of the known modifiers, on multiple phenotypic aspects: upper limbs performance, respiratory and cardiac function. These analyses had been made possible thanks to the collaboration in the data collection phase of several Italian centres. Our goals were to find new potential therapeutic targets and to provide information useful for patients stratification in clinical trials. We were able to confirm the effect of some SNPs, known to be modifier of age at loss of ambulation, on diverse outcomes measures as performance of upper limbs, respiratory and cardiac function. Furthermore, we assess the protective effect of glucocorticoids treatments on diseases aspects other than ambulation, and provide new information about the correlation between DMD mutations and phenotype severity. Finally, I switched my interest to three-dimensional modelling of neuromuscular diseases, aiming to clarify pathological mechanisms and provide a versatile platform for drug screening and test.
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.
Повний текст джерелаPearce, Marcela. "Genomic structure of the human utrophin gene." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318897.
Повний текст джерелаWoolf, 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/.
Повний текст джерелаJohansson, 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.
Повний текст джерелаRoberts, 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.
Повний текст джерелаGeisemeyer, Sarah. "Duchenne muscular dystrophy : a genetic, cognitive and psychosocial approach." Thesis, Kingston University, 2017. http://eprints.kingston.ac.uk/40678/.
Повний текст джерелаBuser, 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.
Повний текст джерелаReza, 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.
Повний текст джерелаMoura, 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/.
Повний текст джерелаOBJECTIVE: Considering the divergence in the literature regarding the base of the cognitive deficits in Duchenne Muscular Dystrophy (DMD) patients, the objective of this work was to investigate their attention performance using psychophysical tests. METHODS: 25 boys with DMD (GD) and 25 healthy boys (GC), which were 10 to 16 years old, were tested in a choice reaction time task. They were instructed to respond as fast as possible to a lateralized visual target stimulus with the same side hand. Attention was automatically oriented by a peripheral spatially non-informative prime stimulus or, alternatively, voluntarily oriented by a central spatially informative cue. RESULTS: Reaction times (RT) were higher for GD than for GC in both automatic attention (p<0,001) and voluntary attention tests (p<0,001), as expected. RTs in voluntary attention tests were smaller than on automatic attention tests for GD (p<0,001) but not for GC (p=0,200). The attentional effect (difference between RT in the opposite/invalid condition and RT in the same/valid condition) was found not to differ between the two groups in the case of automatic attention (p=0,846); however it was greater for GD than for GC in the case of voluntary attention (p<0,001). Interlateral asymmetries have not been observed. CONCLUSION: These results suggest that patients with DMD are less efficient to allocate both automatic and voluntary attention. The lack of the expected motor preparation by the patients when the peripheral prime stimulus was used suggests a disturbance of temporal attention. The larger cost and benefit observed when the endogenous visual cue was used suggests a delay in maturation of the executive functions necessary to adequately allocate voluntary attention.
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.
Повний текст джерелаBurkhardt, Katinka. "Generation of a tailored pig model of Duchenne muscular dystrophy." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-142430.
Повний текст джерелаThomas, 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.
Повний текст джерелаTerry, 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.
Повний текст джерелаHARNOIS, MELISSA. "ANALYSIS OF MYOGENIC MARKERS IN DUCHENNE MUSCULAR DYSTROPHY CELL MODELS." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612963.
Повний текст джерелаWells, 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.
Повний текст джерелаAl-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.
Повний текст джерелаBagdatlioglu, Emine. "Investigating the brain in mouse models of Duchenne muscular dystrophy." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3931.
Повний текст джерелаBurt, 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.
Повний текст джерелаBetts, 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.
Повний текст джерелаWebster, Richard Ian School of Women & 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.
Повний текст джерелаParsons, 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.
Повний текст джерелаTaktak, 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.
Повний текст джерелаLloyd, Amy. "Duchenne muscular dystrophy and reproductive decision-making : implications of newborn screening." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/55904/.
Повний текст джерелаXu, 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.
Повний текст джерелаChadwick, 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.
Повний текст джерелаBlubaugh, 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.
Повний текст джерелаHogarth, 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.
Повний текст джерелаLaws, Nicola. "Characterisation and strategic treatment of dystrophic muscle." University of Southern Queensland, Faculty of Sciences, 2005. http://eprints.usq.edu.au/archive/00001457/.
Повний текст джерелаAl-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.
Повний текст джерелаDeol, 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.
Повний текст джерелаTurner, 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.
Повний текст джерелаThanh, Le Thiet. "Exon-specific monoclonal antibodies against dystrophin." Thesis, University of Salford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261661.
Повний текст джерелаHoskin, 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.
Повний текст джерелаWang, Qiong. "The activity and content of calpains in maturing dystrophic muscle membranes." Thesis, Virginia Tech, 2005. http://hdl.handle.net/10919/42729.
Повний текст джерелаMaster of Science