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1

Busch, H. F. M. "Het begon bij Duchenne." [S.l.] : Rotterdam : [de auteur] ; Erasmus University [Host], 1994. http://hdl.handle.net/1765/7462.

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2

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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3

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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4

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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5

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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6

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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7

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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8

Matecki, Stefan. "Fonction respiratoire et myopathie de Duchenne." Montpellier 1, 1997. http://www.theses.fr/1997MON11135.

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9

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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10

MARCHI, Michele. "DESIGN FOR DUCHENNE. Linee guida per il progetto di costruzione o ristrutturazione di abitazioni per famiglie Duchenne." Doctoral thesis, Università degli studi di Ferrara, 2015. http://hdl.handle.net/11392/2389086.

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11

Fisher, Rosie. "Utrophin in therapy of Duchenne muscular distrophy." Thesis, University of Oxford, 2001. http://ora.ox.ac.uk/objects/uuid:192fbccd-d037-4ce8-b1cd-0315afe1860d.

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12

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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13

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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14

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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15

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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16

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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17

Pertl, Cordula. "Neue Strategien molekularer Therapien bei der Duchenne Muskeldystrophie." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-160818.

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18

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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19

Gardner, Rebecca Jane. "Mutation analysis of Duchenne and Becker muscular dystrophies." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321813.

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20

Markham, Larry W. "Reducing Cardiomyopathy in Duchenne Dystrophy with Steroid Treatment." University of Cincinnati / OhioLINK, 2006. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1155569714.

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21

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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22

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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23

Duchêne, Benjamin. "Utilisation des technologies CRISPR/Cas9 pour le développement d'approches thérapeutiques pour le traitement de la dystrophie musculaire de Duchenne." Doctoral thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/35436.

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La dystrophie musculaire de Duchenne, est une maladie qui résulte d’une mutation dans le gène codant pour la dystrophine. Cette mutation entraine l'absence de la protéine dystrophine dans les fibres musculaires et mène à une dégénérescence des différents muscles ce qui engendre une défaillance cardiorespiratoire suivie d’un décès prématuré. La récente découverte du système CRISPR/Cas9 ouvre de nouvelles perspectives pour le développement d’un traitement curatif pour la DMD. A l’aide d’un ARNg, reconnaissant une séquence cible protospacer localisée à proximité d’un PAM (protospacer adjacent mot
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24

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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25

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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26

Zachi, Elaine Cristina. "Avaliação neuropsicológica de pacientes com distrofia muscular de Duchenne." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/47/47135/tde-22022010-100117/.

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A Distrofia Muscular de Duchenne (DMD) é provocada por mutações no gene distrofina. Este gene codifica a proteína distrofina, que exerce papel importante na manutenção da estabilidade da membrana da fibra muscular. Os objetivos do estudo consistiram em examinar o desempenho neuropsicológico de pacientes com DMD e verificar a influência de deleções downstream ao exon 45 sobre o mesmo. Foram avaliados os perfis de inteligência de 63 pacientes com DMD por meio das Escalas Wechsler de Inteligência ou o Teste de Raven. A faixa etária do grupo variou de 6 a 26 anos de idade e a escolaridade, 1 a 16
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27

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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28

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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29

Koenig, Michel. "Biologie moléculaire des myopathies de Duchenne de de Becker." Université Louis Pasteur (Strasbourg) (1971-2008), 1990. http://www.theses.fr/1990STR1M022.

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30

Santos, Maria Auxiliadora Bonfim [UNIFESP]. "Distrofia Muscular de Duchenne: análise eletrocardiográfica de 131 casos." Universidade Federal de São Paulo (UNIFESP), 2011. http://repositorio.unifesp.br/handle/11600/9340.

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Made available in DSpace on 2015-07-22T20:49:53Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-02-22. Added 1 bitstream(s) on 2015-08-11T03:26:04Z : No. of bitstreams: 1 Publico-12588a.pdf: 1268307 bytes, checksum: cbc2db02b2ce425ce0a255bc9cbeef4c (MD5). Added 1 bitstream(s) on 2015-08-11T03:26:05Z : No. of bitstreams: 2 Publico-12588a.pdf: 1268307 bytes, checksum: cbc2db02b2ce425ce0a255bc9cbeef4c (MD5) Publico-12588b.pdf: 1611234 bytes, checksum: 5bb4cedebc746bef2f551f891a283a74 (MD5)<br>Fundamento: É conhecido o envolvimento cardíaco em pacientes com distrofia muscular de Duche
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31

LANG, CATHERINE. "Aspects moleculaires des myopathies de duchenne et de becker." Strasbourg 1, 1994. http://www.theses.fr/1994STR15058.

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32

Fayssoil, Abdallah. "Phénotypage cardiaque des dystrophies musculaires à l'aide des ultrasons." Thesis, Versailles-St Quentin en Yvelines, 2014. http://www.theses.fr/2014VERS0062/document.

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Les myopathies d’origine génétique sont des pathologies musculaires en rapport avec des anomalies génétiques. Les myopathies sont à l’origine d’un handicap physique majeur et affectent souvent la fonction respiratoire et parfois le cœur. Nous nous sommes intéressés à la caractérisation myocardique de 4 types de myopathies d’origine génétique à l’aide de l’échocardiographie Doppler : myopathie de Duchenne, sarcoglycanopathies, MELAS syndrome et maladie de Pompe.Nous avons analysé la fonction cardiaque dans 2 modèles murins de dystrophies musculaires: la souris mdx et la souris sgca null. En cli
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33

Oliveira, Daniela Moraes de. "Análise de expressão da distrofina, miostatina, tgf-β e nf-kappa β, durante a fase embrionária e fetal no modelo canino GRMD (Golden Retrivier Muscular Dystrophy)." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/10/10132/tde-27022018-121625/.

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A Distrofia Muscular de Duchenne (DMD) é uma doença genética neuromuscular hereditária, ligada ao cromossomo X, sendo encontrada em humanos do sexo masculino. Esta doença muscular é descrita em outras espécies. O modelo de estudo pré-clínico GRMD (Golden Retrievier Muscular Dystrophy) apresenta sintomas clínicos fenotipicamente característicos da DMD em humanos e, por esta razão, tem sido amplamente utilizado como modelo de estudos pré-clínicos. O objetivo da presente pesquisa foi avaliar o tecido muscular, no modelo canino distrófico, ao longo da gestação. Quatro fêmeas, portadoras do gene di
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34

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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35

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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36

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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37

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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38

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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39

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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40

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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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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41

Bénony, Hervé. "Les aspects psychopathologiques dans la myopathie de Duchenne de Boulogne." Paris 5, 1989. http://www.theses.fr/1989PA05H057.

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42

Bénony, Hervé. "Les Aspects psychopathologiques dans la myopathie de Duchenne de Boulogne." Lille 3 : ANRT, 1990. http://catalogue.bnf.fr/ark:/12148/cb37611751n.

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43

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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44

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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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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45

Souza, Mariana Angélica de. "Efeito do uso da ankle-foot orthosis na biomecânica da marcha de pacientes com Distrofia Muscular de Duchenne." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/17/17152/tde-21012015-092933/.

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O objetivo deste estudo foi avaliar o efeito do uso noturno ou diurno da ankle-foot orthosis (AFO) na biomecânica da marcha de pacientes com DMD. Foram avaliados 20 pacientes deambuladores, do Ambulatório de Miopatias Infantis do CER do HCFMRP-USP, com diagnóstico de distrofia muscular de Duchenne (DMD), com idades entre 4 e 12 anos. Foi realizada a avaliação inicial (Av1) em todos os pacientes e, 7 pacientes foram reavaliados após 6 meses (Av2). Na Av1, os pacientes foram agrupados conforme o uso da órtese: grupo sem órtese (SO; n=7), grupo órtese noturna (ON; n=7), grupo órtese diurna (OD; n
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46

Avargues, Laureen. "O papel da fisioterapia em crianças com Distrofia Muscular de Duchenne: revisão bibliográfica." Bachelor's thesis, [s.n.], 2021. http://hdl.handle.net/10284/10177.

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Projeto de Graduação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Licenciada em Fisioterapia<br>Introdução: A Distrofia Muscular de Duchenne é uma doença genética que causa fraqueza muscular progressiva e leva à paralisia total e à morte súbita nos últimos anos da adolescência ou em adultos jovens. Objetivo: Avaliar a importância da Fisioterapia em crianças com Distrofia Muscular de Duchenne. Metodologia: Foi realizada uma pesquisa bibliográfica recorrendo as bases de dados PEDro, Pubmed, Web of Science, CINAHL e Scielo, incluindo artigos random
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47

Goyenvalle, Aurélie. "Développement d'une stratégie thérapeutique pour la dystrophie musculaire de Duchenne : Restauration du cadre de lecture par saut d'exon." Paris 7, 2006. http://www.theses.fr/2006PA077104.

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La plupart des cas de Dystrophie musculaire de Duchenne (DMD) sont causés par des mutations dans le gène de la dystrophine qui interrompent le cadre de lecture de l'ARNm. Dans certains cas, l'exclusion artificielle d'un exon permet de restaurer ce cadre de lecture, donnant naissance à une dystrophine plus courte, mais tout de même fonctionnelle. L'objectif de ce travail a été de produire in situ à partir de vecteurs viraux, des molécules d'ARN ciblant les sites spécifiques d'épissage du gène de la dystrophine, pour induire le saut des exons associés à la maladie pendant l'épissage du pré-ARNm.
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48

Dahmani, Amina. "Développement de tolérance immunologique envers la greffe de myoblastes allogéniques, une thérapie potentielle pour la dystrophie musculaire de Duchenne." Thesis, Université Laval, 2013. http://www.theses.ulaval.ca/2013/29819/29819.pdf.

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La transplantation de myoblastes (TM) est une des thérapies potentielles des plus prometteuses pour la dystrophie musculaire de Duchenne (DMD). Une des limites de cette approche est le rejet des myoblastes du donneur par le système immunitaire de l’hôte. L’induction d’une tolérance immunologique envers les myoblastes greffés permettrait de contourner les effets secondaires conséquents à une immunosuppression soutenue, aujourd’hui indispensable à la survie de la greffe. Notre objectif est donc d'induire une tolérance immunologique via l’établissement d’un chimérisme mixte par un protocole non-m
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49

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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50

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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