Rozprawy doktorskie na temat „Muscular dystrophy”
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Gaschen, Lorrie. "Cardiomyopathy in dystrophin-deficient hypertrophic feline muscular dystrophy /". [S.l.] : [s.n.], 1998. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.
Pełny tekst źródłaHoward, Judith. "Electrodiagnostic evaluation of dystrophin-deficient hypertrophic feline muscular dystrophy /". [S.l.] : [s.n.], 2000. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.
Pełny tekst źródłaCoovert, 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.
Pełny tekst źródłaHolst, Holst. "The history of muscular dystrophy". Thesis, University of British Columbia, 1989. http://hdl.handle.net/2429/27477.
Pełny tekst źródłaMedicine, Faculty of
Cellular and Physiological Sciences, Department of
Graduate
Clement, E. "Congenital muscular dystrophy in 2010". Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1318071/.
Pełny tekst źródłaMontanaro, Federica. "The role of dystroglycan in muscular dystrophy and synaptogenesis". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0020/NQ55361.pdf.
Pełny tekst źródłaRabinowitz, Adam Howard. "Antisense therapies for Duchenne muscular dystrophy". Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.444590.
Pełny tekst źródłaSmith, T. J. "Molecular analysis of Duchenne muscular dystrophy". Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233559.
Pełny tekst źródłaHodgson, Shirley V. "Genetic studies in Duchenne muscular dystrophy". Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235878.
Pełny tekst źródłaWakefield, Philip M. "Gene therapy for duchenne muscular dystrophy". Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365743.
Pełny tekst źródłaBakir, Hadil. "Studies on muscular dystrophy associated genes". Thesis, Durham University, 2007. http://etheses.dur.ac.uk/2143/.
Pełny tekst źródłaKoppaka, Sisir. "Imaging biomarkers for Duchenne muscular dystrophy". Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/106959.
Pełny tekst źródłaCataloged 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.
Pełny tekst źródłaWallace, Lindsay M. "Gene Therapy for Facioscapulohumeral Muscular Dystrophy". The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1338315498.
Pełny tekst źródłaBeers, Leanne. "Living With Muscular Dystrophy: Sexual Education". ScholarWorks, 2018. https://scholarworks.waldenu.edu/dissertations/4908.
Pełny tekst źródłavianello, sara. "Molecular modifiers in Duchenne muscular dystrophy". Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426720.
Pełny tekst źródłaAnderson, Jennifer Louise Medical Sciences Faculty of Medicine UNSW. "Cerebellar synaptic plasticity in two animal models of muscular dystrophy". Publisher:University of New South Wales. Medical Sciences, 2008. http://handle.unsw.edu.au/1959.4/43524.
Pełny tekst źródłaLaws, Nicola. "Characterisation and strategic treatment of dystrophic muscle". University of Southern Queensland, Faculty of Sciences, 2005. http://eprints.usq.edu.au/archive/00001457/.
Pełny tekst źródłaAbmayr, 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.
Pełny tekst źródłaKim, Jihee. "Evaluating pathogenesis in FKRP related muscular dystrophy". Thesis, Royal Veterinary College (University of London), 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.731277.
Pełny tekst źródłaBrais, Bernard. "Oculopharyngeal muscular dystrophy : from phenotype to genotype". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/NQ44369.pdf.
Pełny tekst źródłaSmith, 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.
Pełny tekst źródłaBabaria, Arati. "Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy". Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612573.
Pełny tekst źródłaSkyrme, Sarah Louise. "Research decisions : living with Duchenne muscular dystrophy". Thesis, University of Newcastle upon Tyne, 2014. http://hdl.handle.net/10443/2678.
Pełny tekst źródłaJudge, 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.
Pełny tekst źródłaPearce, Marcela. "Genomic structure of the human utrophin gene". Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318897.
Pełny tekst źródłaReza, 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.
Pełny tekst źródłaWoolf, 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/.
Pełny tekst źródłaCockburn, David James. "Analysis of DMD translocations". Thesis, University of Oxford, 1991. http://ora.ox.ac.uk/objects/uuid:ab53825b-b18e-4f60-954a-4ea9e0435126.
Pełny tekst źródłaDunant, Patrick. "Strategies for Molecular Therapy of Duchenne Muscular Dystrophy". Diss., lmu, 2003. http://nbn-resolving.de/urn:nbn:de:bvb:19-12429.
Pełny tekst źródłaLongman, Cheryl Amanda. "Clinical and molecular studies of congenital muscular dystrophy". Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.423211.
Pełny tekst źródłaWeiler, Tracey. "Limb girdle muscular dystrophy in unique Manitoba populations". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/NQ62676.pdf.
Pełny tekst źródłaBia, 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.
Pełny tekst źródłaClapp, Jannine. "Investigating the molecular genetics of FSH muscular dystrophy". Thesis, University of Nottingham, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435765.
Pełny tekst źródłaBolland, Daniel J. "Comparative mapping of the FSH muscular dystrophy region". Thesis, University of Nottingham, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394920.
Pełny tekst źródłaChang, C. F. "Studies of muscle regeneration in avian muscular dystrophy". Thesis, Imperial College London, 1987. http://hdl.handle.net/10044/1/38258.
Pełny tekst źródłaCrisp, Edmund Alastair D. "Heart function in mouse models of muscular dystrophy". Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:b0dedd86-00d8-4f89-a197-3b78ab989524.
Pełny tekst źródłaWinnard, Alissa Vira. "Exception patients in Duchenne and Becker muscular dystrophy /". The Ohio State University, 1993. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487847309050842.
Pełny tekst źródłaMeredith, Christopher. "Molecular genetic investigation of autosomal dominant muscular dystrophy". Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2001. https://ro.ecu.edu.au/theses/1509.
Pełny tekst źródłaFusto, Aurora. "Genetic and clinical modifiers in Duchenne muscular dystrophy". Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3423193.
Pełny tekst źródłaDuchenne 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.
Kaspar, Rita Wen. "Genotype-Phenotype Association Analysis of Dilated Cardiomyopathy in Becker Muscular Dystrophy". The Ohio State University, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=osu1243469474.
Pełny tekst źródłaDutton, Anna Louise. "An investigation into the effects of dystrophin on the lateral mobility of muscle membrane components". Thesis, Durham University, 1999. http://etheses.dur.ac.uk/4576/.
Pełny tekst źródłaLekan, 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.
Pełny tekst źródłaJohnson, Eric K. "A new model for the dystrophin associated protein complex in striated muscles". The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1354554580.
Pełny tekst źródłaMessaed, Christiane. "Investigation of molecular mechanisms underlying Oculopharyngeal Muscular Dystrophy (OPMD)". Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111879.
Pełny tekst źródłaWinchester, Catherine Louisa. "Expression of myotonic dystrophy candidate proteins". Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265141.
Pełny tekst źródłaFair, Jeanette L. "Effects of compensatory hypertrophy on dystrophic (Bio 14.6) hamster muscle : changes in collagen and myofibrillar protein content". Virtual Press, 1987. http://liblink.bsu.edu/uhtbin/catkey/494971.
Pełny tekst źródłaNewman, Emma E. "An investigation into molecular basis of myotonic dystrophy". Thesis, University of Nottingham, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310951.
Pełny tekst źródłaHarris, Sarah Elizabeth. "Expression and functional analysis of the transcription factor DMAHP". Thesis, University of Glasgow, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284736.
Pełny tekst źródłaBetts, 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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