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Tesis sobre el tema "Duchenne Muscular Dystrophy (DMD)"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 25 de julio de 2025

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1

Cockburn, David James. "Analysis of DMD translocations." Thesis, University of Oxford, 1991. http://ora.ox.ac.uk/objects/uuid:ab53825b-b18e-4f60-954a-4ea9e0435126.

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Duchenne and Becker muscular dystrophies (DMD, BMD) are allelic X-linked diseases which affect approximately one in 3500 male newborns. They are caused by mutations in a gene positioned on the short arm of the X chromosome at Xp21. The first indication of the location of this gene was the description of rare females expressing DMD and who were found to have constitutional X;autosome translocations with an X chromosome breakpoint at this site. There are now 24 such females known worldwide. They express DMD as a consequence of preferential inactivation of the normal X chromosome. In order to con

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2

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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3

Taylor, Peter John Medical Sciences Faculty of Medicine UNSW. "Molecular genetic analysis of a New South Wales muscular dystrophy cohort." Publisher:University of New South Wales. Medical Sciences, 2008. http://handle.unsw.edu.au/1959.4/43309.

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Duchenne muscular dystrophy (DMD) is an X-linked lethal condition associated with high morbidity and mortality. There is currently no cure for this disease. Several gene-based therapeutic approaches for treating DMD are currently under development but all are dependent on the knowledge of the causative dystrophin gene mutation. A combined mutation detection approach consisting of a quantitative PCR based analysis and DNA sequencing of the dystrophin gene resulted in a mutation etection rate of 96% in the New South Wales (NSW) DMD cohort. The proportion of exon duplication mutations was twice

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4

Sharma, Dishant. "Development of tolerogenic plasmid vectors for gene therapy of Duchenne muscular dystrophy (DMD)." Thesis, University of Portsmouth, 2017. https://researchportal.port.ac.uk/portal/en/theses/development-of-tolerogenic-plasmid-vectors-for-gene-therapy-of-duchenne-muscular-dystrophy-dmd(55b88eaa-5f23-4ae6-83e7-baed45f82d00).html.

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This project focused on the development of an effective gene replacement therapy for the Duchenne muscular dystrophy (DMD) in its mouse models [(X-linked muscular dystrophy, mdx) and mdx-βgeo mice]. Earlier studies on the DMD replacement therapy (usually using mini-dystrophin) were largely not successful because dystrophin is being recognised as an antigen upon re-expression in dystrophic muscles and initiates the specific immune response. This leads to a short-lived or no expression of mini-dystrophin as was found in both human clinical trials and in animal models. It had been shown that the

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5

Heller, Kristin Noreen. "Alternative to Gene Replacement for Duchenne Muscular Dystrophy using Human Alpha7 Integrin (ITGA7)." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1388401639.

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6

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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7

Humbertclaude, Véronique. "Variabilité phénotypique et corrélations génotype – phénotype des dystrophinopathies : contribution des banques de données." Thesis, Montpellier 1, 2011. http://www.theses.fr/2011MON1T028/document.

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L'objectif de ce travail est de développer la partie clinique de la banque de données du gène DMD, afin d'étudier l'histoire naturelle des dystrophinopathies et les corrélations génotype–phénotype, et de faciliter la sélection des patients pour les futurs essais thérapeutiques. La méthodologie créée pour le gène DMD peut être généralisée et utilisée pour d'autres banques de données dédiées à des maladies génétiques. La collecte de 70 000 données cliniques chez 600 patients avec un suivi longitudinal moyen de 12 ans permet de décrire l'histoire naturelle des dystrophies musculaires de Duchenne

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8

Thaker, Rajsi Y. "Potential drug treatment for Duchenne muscular dystrophy which could be through upregulation of lipin1." Wright State University / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=wright1629996330644397.

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9

Papadopoulou, Georgia. "Cognitive profile in advanced Duchenne Muscular Dystrophy (DMD) and the effects of hypoventilation on cognition." Thesis, University of Hull, 2010. http://hydra.hull.ac.uk/resources/hull:3471.

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The portfolio has three parts.Part One is a systematic literature review concerning the nature and severity of the psychological distress experienced by carers (primarily parents) of people with Muscular Dystrophy. Quantitative and qualitative studies investigating distress in these carers have been reviewed and critically evaluated to draw conclusions and implications for clinical practice. Part Two is an empirical paper aimed at creating a cognitive profile for people suffering from Duchenne Muscular Dystrophy in the advanced stages of the illness. The focus of this cross-sectional study is

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10

Zatti, Susi. "Micro-engineered skeletal and cardiac muscle for Duchenne muscular dystrophy in vitro models." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422953.

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Duchenne muscular dystrophy (DMD) is the most common and severe genetic neuromuscular disorder affecting both skeletal and cardiac muscle functionality. More than twenty years have passed since the identification of the dystrophin gene, which mutations cause the disease. Many progresses have been made in understanding the pathogenesis and different experimental strategies has been tested both in vitro, on bench-top cell cultures, and in vivo, on different animal models. So far, despite some promising outcomes coming from recent clinical trials, this has not resulted in an effective and definit

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11

EL, DANI RIM. "Urine-derived stem cells are a novel approach for transcriptomic studies in Duchenne Muscular Dystrophy." Doctoral thesis, Università degli studi di Ferrara, 2021. http://hdl.handle.net/11392/2488031.

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Background: Nowadays, urine derived stem cells (USCs) are considered as a new approach for modelling a wide variety of human diseases. In fact, these cell lines have many advantages in terms of the easy isolation, low costs and the absence of ethical issues. Aims: The goals of this study included examining the gene expression profile of both native and myogenically transformed (MyoD) USCs derived from DMD patients and healthy individuals. In addition to that, we exploited the new technology Celector ® (StemSel Ltd.), in order to distinguish both control and DMD USCs through their segrega

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12

Escorcio, Renata. "Elaboração e análise de confiabilidade de escala de avaliação funcional da manobra de Gowers e da passagem de bipedestação para sedestação no solo para portadores de distrofia muscular de Duchenne (DMD)." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5163/tde-09122009-162729/.

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Objetivo: Construir Escala de Avaliação Funcional do Sentar e Levantar do Solo para Portadores de DMD (EAF-2) e testar sua confiabilidade intra e interexaminadores. Método: A construção da escala ocorreu em etapas: 1. Análise do movimento de sentar e levantar do solo em crianças saudáveis. 2. Análise do movimento de sentar e levantar do solo em crianças com DMD. 3. Elaboração da primeira versão da escala e do manual de instrução. 4. Avaliação por peritos e reajustes gerando a versão final. 5. Análise de confiabilidade inter e intraexaminador e correlação com a Escala de Vignos, idade e tempo d

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13

Rangan, Apoorva. "CRISPR-Cas9 Mediated Restoration of Dystrophin Expression and Inhibition of Myostatin: A Novel Gene Therapy for Duchenne Muscular Dystrophy." Scholarship @ Claremont, 2016. http://scholarship.claremont.edu/cmc_theses/1305.

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Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disease, caused by a frame-shift mutation in the dystrophin gene. Current gene therapies for DMD target dystrophin transcripts in existing skeletal and cardiac muscle, rather than adipose and fibrotic tissues. These approaches may be unable to repair muscle functionality in DMD patients who have already undergone extensive muscle damage and wasting. Thus, successful DMD therapies must consider the underlying genetic cause and pathology. Inhibition of the gene myostatin, a negative regulator of muscle growth, has been shown to a

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14

Tabebordbar, Mohammadsharif. "Improving Stem Cell-Based Therapy and Developing a Novel Gene Therapy Approach for Treating Duchenne Muscular Dystrophy (DMD)." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:26718751.

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Genetic mutations in muscle structural genes can compromise myofiber integrity, causing repeated muscle damage that ultimately exhausts muscle regenerative capacity and results in devastating degenerative conditions such as Duchenne Muscular Dystrophy (DMD), Congenital Muscular Dystrophy (CMD) and different forms of Limb Girdle Muscular Dystrophy (LGMD). Gene supplementation and autologous stem cell transplant have been put forward as promising, though still unproven, therapeutic avenues for combatting these genetic muscle diseases. Both strategies aim to compensate expression of the missing o

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15

Guilbaud, Marine. "Identification d'ARNs non-codants impliqués dans les dystrophinopathies." Thesis, Sorbonne université, 2018. http://www.theses.fr/2018SORUS042/document.

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Les dystrophies musculaires de Duchenne (DMD) et de Becker (BMD) sont dues à des mutations dans le gène DMD codant la Dystrophine. De nombreux aspects des mécanismes pathophysiologiques de ces maladies ne sont pas encore expliqués. Nous nous sommes intéressés à l'étude d'ARN non-codants pouvant participer à ces processus. Une première étude a été centrée sur l’identification de micro-ARNs (miARNs) impliqués dans la régulation de l’oxyde nitrique synthase neuronale (nNOS) une protéine partenaire de la Dystrophine et associée à des caractéristiques de ces pathologies telles que la fatigabilité m

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16

Lombardo, Maria Elena. "Nuovi strumenti di valutazione funzionale nella distrofia muscolare di Duchenne: Performance of Upper Limb Module per DMD (PUL)." Doctoral thesis, Università di Catania, 2013. http://hdl.handle.net/10761/1288.

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Il recente sviluppo di approcci terapeutici per la Distrofia muscolare di Duchenne ha portato alla necessità di identificare nuove misure di valutazione da utilizzare negli studi clinici. Diversi workshop sono stati organizzati per trovare un consenso sulle diverse misure di valutazione clinica da utilizzare, promuovendo la collaborazione di più centri allo scopo di validare gli strumenti di valutazione selezionati.. Le scale di valutazione maggiormente utilizzate nella Distrofia muscolare di Duchenne (DMD) si basavano fondamentalmente su valutazioni quantitative della forza. Solo di recente

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17

Simmons, Tabatha Renee. "Treatment of DMD 5’ Mutations through Two Different Exon 2 Skipping Strategies: rAAV9.U7snRNA Mediated Skipping and Antisense Morpholino Oligomers." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1469122227.

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18

DI, RENZO ILARIA. "ACID SPHINGOMYELINASE AS A NEW PHARMACOLOGICAL TARGET IN THE ACUTE AND CHRONIC MUSCLE DAMAGE: AN ALTERNATIVE STRATEGY FOR MUSCULAR DYSTROPHIES THERAPY." Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/597100.

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Skeletal muscle inflammation plays a critical role in bridging early muscle injury responses and timely muscle injury recovery (Yang and Hu, 2018). In this study, we investigated the functional role of the sphingolipid-metabolizing enzyme Acid Sphingomyelinase (A-SMase) in the pathophysiology of acute and chronic muscle damage in order to elucidate its role in the establishment of inflammation and in the subsequent muscle regeneration process so that this protein may be proposed as possible therapeutic target. A-SMase is a critical mediator of cell signaling since it is able to generate cerami

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19

van, Erp Christel. "Modifying function and fibrosis of cardiac and skeletal muscle from mdx mice." University of Southern Queensland, Faculty of Sciences, 2005. http://eprints.usq.edu.au/archive/00001521/.

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Duchenne Muscular Dystrophy (DMD) is a fatal condition occurring in approximately 1 in 3500 male births and is due to the lack of a protein called dystrophin. Initially DMD was considered a skeletal myopathy, but the pathology and consequences of cardiomyopathy are being increasingly recognised. Fibrosis, resulting from continual cycles of degeneration of the muscle tissues followed by inadequate regeneration of the muscles, is progressive in both cardiac and skeletal dystrophic muscle. In the heart fibrosis interferes with contractility and rhythm whereas it affects contractile function and c

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20

Forman, Casey-Garnett. "Exploring the lived experiences of parents raising a child diagnosed with Duchenne Muscular Dystrophy (DMD) in South Africa : challenges and coping strategies." Diss., University of Pretoria, 2020. http://hdl.handle.net/2263/77200.

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This study set out to explore the lived experiences of parents raising a child with Duchenne Muscular Dystrophy (DMD) in South Africa. It addressed the challenges and coping strategies faced by three married couples of children, specifically male children, who are affected by this degenerative and fatal genetic condition. Purposive sampling was used and themes were highlighted through semi-structured interviews, employing interpretative phenomenological analysis (IPA). Major themes found included the reactions to the diagnosis; facing many losses and experiencing anticipatory grief; and learn

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21

Rodrigues, Marcos Rojo. "Estudo do efeito de três exercícios de ioga na capacidade respiratória em pacientes com distrofia muscular progressiva tipo Duchenne (DMD)." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-30102007-150437/.

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A evolução da Distrofia Muscular de Duchenne (DMD) culmina na morte dos pacientes por problemas respiratórios, que aparentemente estão relacionados com a fraqueza de sua musculatura. O propósito deste estudo foi avaliar o efeito de três exercícios respiratórios de ioga na função respiratória em pacientes com DMD. A escolha dos exercícios foi motivada pelo fato de não se encontrar similares nos procedimentos fisioterápicos atuais no ocidente e por poderem ser praticados sem a necessidade de aparatos ou ajuda externa, facilitando sua execução diária. Os exercícios foram ensinados individualmente

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22

Kervella, Marie. "Deciphering the Common Pathomechanisms of Dilated Cardiomyopathy Caused by LMNA and DMD Mutations Through Genomic Analysis." Electronic Thesis or Diss., Université de Montpellier (2022-....), 2025. http://www.theses.fr/2025UMONT001.

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La dystrophie musculaire de Duchenne et les laminopathies entraînent le développement d’une cardiomyopathie dilatée. Par les caractéristiques communes partagées par les muscles squelettiques et cardiaque, les cardiomyopathies peuvent être associées aux maladies neuromusculaires. Ces deux pathologies, d’origine génétique résultent respectivement de mutations dans les gènes codant la dystrophine (DMD) et les lamines de type A (LMNA), conduisant respectivement à une absence de dystrophine et à une altération des lamines de type A. La cardiomyopathie dilatée est caractérisée principalement par une

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23

Etienne, Jessy. "Caractérisation des progéniteurs cellulaires exprimant les aldéhydes déshydrogénases (ALDH) dans des modèles sains et dystrophiques." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066721/document.

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La thérapie cellulaire est une envisagée pour traiter des pathologies cardiaques ou squelettiques basée sur la médecine régénérative. Les progéniteurs cellulaires classiquement utilisés (myoblastes ou cellules mésenchymateuses) n'ont démontré qu'une efficacité limitée. Dans ce contexte, notre laboratoire a identifié une nouvelle catégorie de progéniteurs, sur la base de leur activité enzymatique aldéhyde déshydrogénase (ALDH) mise en évidence par un substrat fluorescent, l'Aldéfluor, et en association avec le marqueur CD34. Les ALDH sont impliquées dans le métabolisme et la détoxification des

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24

ARMAROLI, Annarita. "TRANSCRIPTIONAL PROFILING IN DUCHENNE MUSCULAR DYSTROPHY REVEALED A PROFOUND DEREGULATION OF BOTH CIRCADIAN RHYTHM GENES AND GENES INVOLVED IN MUSCLE REGENERATIVE PROCESS AS POSSIBLE NEW DISEASE BIOMARKERS." Doctoral thesis, Università degli studi di Ferrara, 2017. http://hdl.handle.net/11392/2488222.

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Introduction: Duchenne muscular dystrophy (DMD) is a severe hereditary muscle wasting disease. It is caused by mutations in the DMD gene, that lead to a complete absence of the protein dystrophin. Different treatments have been developed so far and some of them were successful in ameliorating the disease course, especially due to corticosteroid administration, which have prolonged the autonomous ambulation and the respiratory function. A number of clinical trials (Phase I-IV) are underway, often based on personalized medicine, but still final results have to come. Among these, Eteplirsen (Exon

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25

Guilbaud, Marine. "Identification d'ARNs non-codants impliqués dans les dystrophinopathies." Electronic Thesis or Diss., Sorbonne université, 2018. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2018SORUS042.pdf.

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Les dystrophies musculaires de Duchenne (DMD) et de Becker (BMD) sont dues à des mutations dans le gène DMD codant la Dystrophine. De nombreux aspects des mécanismes pathophysiologiques de ces maladies ne sont pas encore expliqués. Nous nous sommes intéressés à l'étude d'ARN non-codants pouvant participer à ces processus. Une première étude a été centrée sur l’identification de micro-ARNs (miARNs) impliqués dans la régulation de l’oxyde nitrique synthase neuronale (nNOS) une protéine partenaire de la Dystrophine et associée à des caractéristiques de ces pathologies telles que la fatigabilité m

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26

Escorcio, Renata. "Responsividade da escala de avaliação funcional do sentar e levantar do solo para distrofia muscular de Duchenne (FES-DMD - D4), no período de um ano." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5170/tde-20052016-163309/.

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OBJETIVO: Avaliar a responsividade da escala de avaliação funcional para pacientes com distrofia muscular de Duchenne (FES-DMD-D4), sentar e levantar do solo, no período de um ano. MÉTODO: Estudo observacional, longitudinal e retrospectivo. Foi estudada, utilizando o software FES-DMDDATA, uma amostra com 25 pacientes na atividade sentar no solo e 28 pacientes para a atividade levantar do solo. As avaliações ocorreram a cada três meses no período de um ano. Para análise estatística da capacidade de resposta foram utilizados índices de tamanho de efeito, como, effect size (ES) e Standardized Res

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27

Condin, Christopher J. "Families’ experiences with medical research for pediatric rare diseases : a qualitative ethnographic study of parents and children participating in clinical trials for Duchenne muscular dystrophy (DMD)." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/50780.

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The biopharmaceutical industry has recently expanded its focus on developing new cures for rare diseases. As a growing number of personalised genomic treatments are tested in clinical trials, there is uncertainty about how to account for patient perspectives, and how to measure functional changes reported by patients and caregivers. The illness experiences of patients and families are also being reshaped as they adopt roles as collaborative stakeholders and participants in clinical studies. This dissertation examines these changes using data from qualitative ethnographic research conducted w

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28

Hukuda, Michele Emy. "Responsividade da escala de avaliação funcional do sentar e levantar da cadeira para pacientes com distrofia muscular de Duchenne (FES-DMD-D1), no período de um ano." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/5/5170/tde-12052015-101633/.

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Objetivo: Avaliar a responsividade da escala de avaliação funcional para pacientes com distrofia muscular de Duchenne (DMD), domínio 1 - sentar e levantar da cadeira (FES-DMD-D1). Método: Estudo observacional, retrospectivo e longitudinal (seguimento por um ano). Foi estudada, utilizando o software FES-DMD-DATA, uma amostra de 150 avaliações da atividade de sentar e levantar da cadeira, a partir de um banco de imagens com filmes de 30 crianças com DMD, executando atividades funcionais, avaliadas a cada três meses, em um período de um ano. A avaliação da FES-DMD-D1 foi aplicada por fisioterapeu

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29

Brouilly, Nicolas. "Dégénérescence musculaire chez Caenorhabditis elegans : caractérisation morphologique et étude de suppresseurs." Thesis, Lyon 1, 2013. http://www.theses.fr/2013LYO10143/document.

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Les dystrpohies musculaires sont des maladies génétiques rares qui se caractérisent par une dégénérescence musculaire progressive. la Dystrophie Musculaire de Duchenne (DMD) qui est la plus sévère d'entre elles est due à des mutations dans le gène de la dystrophine. Les mécanismes cellulaires impliqués dans le processus de dégénérescence des muscles restent peu compris et aucun traitement efficace n'existe à ce jour. Notre équipe a développé un modèle de la DMD chez le nématode C. elegans qui présente une dégénérescence musculaire progressive. Pendant ma thèse, j'ai caractérisé le processus de

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30

Etienne, Jessy. "Caractérisation des progéniteurs cellulaires exprimant les aldéhydes déshydrogénases (ALDH) dans des modèles sains et dystrophiques." Electronic Thesis or Diss., Paris 6, 2016. http://www.theses.fr/2016PA066721.

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La thérapie cellulaire est une envisagée pour traiter des pathologies cardiaques ou squelettiques basée sur la médecine régénérative. Les progéniteurs cellulaires classiquement utilisés (myoblastes ou cellules mésenchymateuses) n'ont démontré qu'une efficacité limitée. Dans ce contexte, notre laboratoire a identifié une nouvelle catégorie de progéniteurs, sur la base de leur activité enzymatique aldéhyde déshydrogénase (ALDH) mise en évidence par un substrat fluorescent, l'Aldéfluor, et en association avec le marqueur CD34. Les ALDH sont impliquées dans le métabolisme et la détoxification des

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31

Grunwald, Stefanie. "Identifizierung und Charakterisierung von Muskeldystrophie Duchenne modifizierenden Genen und Stoffwechselwegen." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2010. http://dx.doi.org/10.18452/16108.

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Hintergrund und Zielsetzung: DMD ist die häufigste Form der Muskeldystrophie im Kindesalter und bis heute unheilbar. Sie wird durch das Fehlen des Proteins Dystrophin verursacht, welches verschiedene Signaltransduktionswege beeinflusst. Das Anliegen der Arbeit ist die Untersuchung und Modulation von Signaltransduktionswegen, die als alternative Therapiestrategie den Verlust von Dystrophin kompensieren könnten. Experimentelle Strategie: Für die Charakterisierung von Dystrophin nachgeschalteten Prozessen wurden mRNA-Expressionsanalysen in Muskelgeweben von DMD-Patienten und einem DMD-Brüderpaa

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32

Giacomotto, Jean. "C. elegans, un outil de criblage pour la recherche de traitements contre les maladies rares." Phd thesis, Université Claude Bernard - Lyon I, 2010. http://tel.archives-ouvertes.fr/tel-00707724.

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Les techniques de criblage actuelles (in vitro et in silico) sont dépendantes des efforts menés en biologie médicinale pour identifier des cibles biologiques pertinentes ; cibles difficiles à définir pour les maladies génétiques dites "perte de fonction". De plus, les composés issus de ces cribles s'avèrent souvent inefficaces et/ou toxiques une fois confrontés à la complexité physiologique d'un organisme entier. Pour contourner ce problème, nous proposons d'utiliser le nématode C. elegans, notamment pour des maladies répondant aux critères suivants : i) physiopathologie complexe et/ou mal com

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Aupy, Philippine. "Le développement préclinique des tcDNA pour la Dystrophie Musculaire de Duchenne Evaluating the impact of variable phosphorothioate content in tricyclo-DNA antisense oligonucleotides in a Duchenne Muscular Dystrophy mouse model Identifying and avoiding tcDNA-ASO sequence specific toxicity for the development of DMD exon 51 skipping therapy Long term efficacy of AAV9-U7snRNA mediated exon 51 skipping in mdx52 mice The use of tricyclo-DNA for the treatment of Genetic Disorders Exon-skipping advances for Duchenne Muscular Dystrophy." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLV083.

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La Dystrophie Musculaire de Duchenne est une maladie génétique mortelle qui touche un garçon sur 3500. Elle se manifeste par une faiblesse musculaire progressive conduisant à une perte de la marche autour de l’âge de 10 ans, puis des problèmes respiratoires et cardiaques. Elle est due à des mutations dans le gène DMD conduisant à une absence de la protéine dystrophine. Il n’existe à l’heure actuelle aucun traitement satisfaisant. L’une des stratégies thérapeutiques les plus prometteuses pour cette maladie consiste à moduler l’épissage de l’ARN pré-messager. Cette stratégie appelée aussi « saut

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CAFFARINI, MIRIAM. "Mesoderm stem cells and inflammation: role in the Pathogenesis and potential therapy of selected Gynecological Deseases and primary Myopathies." Doctoral thesis, Università Politecnica delle Marche, 2019. http://hdl.handle.net/11566/263543.

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Le cellule staminali mesenchimali (MSCs) sono un tipo specifico di cellule staminali adulte con un elevato potenziale proliferativo e differenziativo verso cellule specializzate di derivazione mesodermica. Le MSCs svolgono anche una funzione paracrina attraverso il rilascio di molteplici fattori di crescita, chemochine e citochine. Le MSCs si comportanto da sentinelle che percepiscono il microambiente e agiscono di conseguenza, passando da un fenotipo pro-infiammatorio ad uno immunosoppressivo in base ai segnali che ricevono. Nel seguente lavoro sono valutati l’esistenza e il ruolo delle MSCs

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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.

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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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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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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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39

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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40

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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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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42

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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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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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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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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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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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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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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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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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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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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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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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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