Relevant bibliographies by topics / Duchenne Muscular Dystrophy (DMD)

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Academic literature on the topic 'Duchenne Muscular Dystrophy (DMD)'

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Published: 4 June 2021
Last updated: 21 February 2023

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Journal articles on the topic "Duchenne Muscular Dystrophy (DMD)"

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lordlin, Dr R. T. J. R. Lordlin, and Dr Franklin Shaju. "PHYSIO IN DUCHENNE MUSCULAR DYSTROPHY (DMD)." IDC International Journal 8, no. 4 (October 10, 2021): 1–4. http://dx.doi.org/10.47211/idcij.2021.v08i04.001.

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Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy and is caused by mutations in the dystrophin gene. Dystrophin, together with several other protein components, is part of a complex known as the dystrophin glycoprotein complex (DGC). The DGC plays an essential role in maintaining the structural integrity of the muscle cell membrane by providing a link between the extracellular matrix and the cytoskeleton
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Spiro, Alfred J. "Muscular Dystrophy." Pediatrics In Review 16, no. 11 (November 1, 1995): 437. http://dx.doi.org/10.1542/pir.16.11.437.

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Several varieties of muscular dystrophy can be distinguished on clinical, genetic, morphologic, and physiologic grounds. The classification includes Duchenne and Becker muscular dystrophies, both X-linked disorders; facioscapulohumeral muscular dystrophy, which is autosomal dominant; and limb-girdle muscular dystrophy, generally autosomal recessive. Duchenne muscular dystrophy (DMD), which occurs in approximately 1 in 3500 live male births, has no recognizable signs or symptoms at birth. However, markedly elevated serum creatine kinase always is demonstrable, even at birth. A molecular diagnosis can be made at any time in the patient's lifetime by demonstrating the defect in the dystrophin gene, the absence of dystrophin in a muscle biopsy, and the characteristic morphologic abnormalities.
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Sitzia, Clementina, Andrea Farini, Federica Colleoni, Francesco Fortunato, Paola Razini, Silvia Erratico, Alessandro Tavelli, et al. "Improvement of Endurance of DMD Animal Model Using Natural Polyphenols." BioMed Research International 2015 (2015): 1–17. http://dx.doi.org/10.1155/2015/680615.

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Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy, is characterized by muscular wasting caused by dystrophin deficiency that ultimately ends in force reduction and premature death. In addition to primary genetic defect, several mechanisms contribute to DMD pathogenesis. Recently, antioxidant supplementation was shown to be effective in the treatment of multiple diseases including muscular dystrophy. Different mechanisms were hypothesized such as reduced hydroxyl radicals, nuclear factor-κB deactivation, and NO protection from inactivation. Following these promising evidences, we investigated the effect of the administration of a mix of dietary natural polyphenols (ProAbe) on dystrophic mdx mice in terms of muscular architecture and functionality. We observed a reduction of muscle fibrosis deposition and myofiber necrosis together with an amelioration of vascularization. More importantly, the recovery of the morphological features of dystrophic muscle leads to an improvement of the endurance of treated dystrophic mice. Our data confirmed that ProAbe-based diet may represent a strategy to coadjuvate the treatment of DMD.
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Danisovic, Lubos, Martina Culenova, and Maria Csobonyeiova. "Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy." Cells 7, no. 12 (December 7, 2018): 253. http://dx.doi.org/10.3390/cells7120253.

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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles. Currently, there is no effective therapy for this disorder. However, the technology of cell reprogramming, with subsequent controlled differentiation to skeletal muscle cells or cardiomyocytes, may provide a unique tool for the study, modeling, and treatment of Duchenne muscular dystrophy. In the present review, we describe current methods of induced pluripotent stem cell generation and discuss their implications for the study, modeling, and development of cell-based therapies for Duchenne muscular dystrophy.
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Steen, Michelle S., Marvin E. Adams, Yan Tesch, and Stanley C. Froehner. "Amelioration of Muscular Dystrophy by Transgenic Expression of Niemann-Pick C1." Molecular Biology of the Cell 20, no. 1 (January 2009): 146–52. http://dx.doi.org/10.1091/mbc.e08-08-0811.

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Duchenne muscular dystrophy (DMD) and other types of muscular dystrophies are caused by the loss or alteration of different members of the dystrophin protein complex. Understanding the molecular mechanisms by which dystrophin-associated protein abnormalities contribute to the onset of muscular dystrophy may identify new therapeutic approaches to these human disorders. By examining gene expression alterations in mouse skeletal muscle lacking α-dystrobrevin (Dtna−/−), we identified a highly significant reduction of the cholesterol trafficking protein, Niemann-Pick C1 (NPC1). Mutations in NPC1 cause a progressive neurodegenerative, lysosomal storage disorder. Transgenic expression of NPC1 in skeletal muscle ameliorates muscular dystrophy in the Dtna−/− mouse (which has a relatively mild dystrophic phenotype) and in the mdx mouse, a model for DMD. These results identify a new compensatory gene for muscular dystrophy and reveal a potential new therapeutic target for DMD.
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Min, Yi-Li, Rhonda Bassel-Duby, and Eric N. Olson. "CRISPR Correction of Duchenne Muscular Dystrophy." Annual Review of Medicine 70, no. 1 (January 27, 2019): 239–55. http://dx.doi.org/10.1146/annurev-med-081117-010451.

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The ability to efficiently modify the genome using CRISPR technology has rapidly revolutionized biology and genetics and will soon transform medicine. Duchenne muscular dystrophy (DMD) represents one of the first monogenic disorders that has been investigated with respect to CRISPR-mediated correction of causal genetic mutations. DMD results from mutations in the gene encoding dystrophin, a scaffolding protein that maintains the integrity of striated muscles. Thousands of different dystrophin mutations have been identified in DMD patients, who suffer from a loss of ambulation followed by respiratory insufficiency, heart failure, and death by the third decade of life. Using CRISPR to bypass DMD mutations, dystrophin expression has been efficiently restored in human cells and mouse models of DMD. Here, we review recent progress toward the development of possible CRISPR therapies for DMD and highlight opportunities and potential obstacles in attaining this goal.
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Li, Xing-Chuan, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, and Ni Zhang. "A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene." SAGE Open Medical Case Reports 10 (January 2022): 2050313X2211008. http://dx.doi.org/10.1177/2050313x221100881.

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Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in our patient’s muscle cell membranes. We discovered a novel nonsense mutation in DMD that will expand the pathogenic mutation spectrum for Duchenne muscular dystrophy.
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Teramoto, Naomi, Hidetoshi Sugihara, Keitaro Yamanouchi, Katsuyuki Nakamura, Koichi Kimura, Tomoko Okano, Takanori Shiga, et al. "Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy." Disease Models & Mechanisms 13, no. 9 (August 28, 2020): dmm044701. http://dx.doi.org/10.1242/dmm.044701.

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ABSTRACTDystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC). In-frame mutations in DMD cause a milder form of X-linked muscular dystrophy, called Becker muscular dystrophy (BMD), characterized by the reduced expression of truncated dystrophin. So far, no animal model with in-frame mutations in Dmd has been established. As a result, the effect of in-frame mutations on the dystrophin expression profile and disease progression of BMD remains unclear. In this study, we established a novel rat model carrying in-frame Dmd gene mutations (IF rats) and evaluated the pathology. We found that IF rats exhibited reduced expression of truncated dystrophin in a proteasome-independent manner. This abnormal dystrophin expression caused dystrophic changes in muscle tissues but did not lead to functional deficiency. We also found that the expression of additional dystrophin named dpX, which forms the DGC in the sarcolemma, was associated with the appearance of truncated dystrophin. In conclusion, the outcomes of this study contribute to the further understanding of BMD pathology and help elucidate the efficiency of dystrophin recovery treatments in Duchenne muscular dystrophy, a more severe form of X-linked muscular dystrophy.
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Khatri, Ravi Shankar, Mridul Ranajan, and Shalini . "A COMPARATIVE AYURVEDIC REVIEW OF ETIOPATHOGENESIS OF DUCHENNE MUSCULAR DYSTROPHY (INHERITED DISORDER)." International Journal of Research in Ayurveda and Pharmacy 12, no. 1 (March 2, 2021): 124–25. http://dx.doi.org/10.7897/2277-4343.120127.

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Duchenne muscular dystrophy (DMD) is an inherited disorder with severe progressive muscle weakness. In Ayurveda, Adibala Pravritta Vyadhi are also known as inherited diseases that caused by Matruja beeja dushti (Shonita) and Pitruja beeja dushti (Shukra). Duchenne muscular dystrophy (DMD) has been classified under Adibala Pravritta Vyadhi as per Ayurveda. The main objective of this article is to describe the various aspect of etiopathogenesis of Duchenne muscular dystrophy (DMD) as per Ayurvedic literature. This article will be helpful to making the Nidana (Diagnosis) as per Ayurveda and also help in the Chikitsa (Treatment) of Duchenne muscular dystrophy.
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Erkut, Esra, and Toshifumi Yokota. "CRISPR Therapeutics for Duchenne Muscular Dystrophy." International Journal of Molecular Sciences 23, no. 3 (February 6, 2022): 1832. http://dx.doi.org/10.3390/ijms23031832.

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Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder with a prevalence of approximately 1 in 3500–5000 males. DMD manifests as childhood-onset muscle degeneration, followed by loss of ambulation, cardiomyopathy, and death in early adulthood due to a lack of functional dystrophin protein. Out-of-frame mutations in the dystrophin gene are the most common underlying cause of DMD. Gene editing via the clustered regularly interspaced short palindromic repeats (CRISPR) system is a promising therapeutic for DMD, as it can permanently correct DMD mutations and thus restore the reading frame, allowing for the production of functional dystrophin. The specific mechanism of gene editing can vary based on a variety of factors such as the number of cuts generated by CRISPR, the presence of an exogenous DNA template, or the current cell cycle stage. CRISPR-mediated gene editing for DMD has been tested both in vitro and in vivo, with many of these studies discussed herein. Additionally, novel modifications to the CRISPR system such as base or prime editors allow for more precise gene editing. Despite recent advances, limitations remain including delivery efficiency, off-target mutagenesis, and long-term maintenance of dystrophin. Further studies focusing on safety and accuracy of the CRISPR system are necessary prior to clinical translation.
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Dissertations / Theses on the topic "Duchenne Muscular Dystrophy (DMD)"

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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 contribute to the understanding of the aetiology of mutations causing DMD and the aetiology of constitutional translocations, two types of study have been performed here. Firstly, the detailed mapping of the X chromosome breakpoints of DMD-associated X;autosome translocations has been investigated. The results of this study have been compared with data on the physical distribution of mutations causing DMD in male patients. Secondly, one translocation, an X;l translocation with an autosomal breakpoint at Ip34, has been selected for more detailed investigation and the DNA sequence has been determined at the site of the rearrangement. Translocation breakpoint mapping studies were performed by somatic cell hybrid analysis. Hybrids were karyotyped and this information was used to construct a hybrid panel for the purpose of determining the autosomal localisations of anonymous DNA probes. The mapping of seven probes using this panel is described. The work described in this thesis revealed that the distribution of translocation breakpoints within the DMD gene appears to be random and may differ from the distribution of mutations in male patients. The X;l translocation whose breakpoints are cloned and sequenced was found to involve two expressed loci, one coding for dystrophin on the X chromosome and one for the leukocyte antigen related protein on chromosome 1. Sequence data revealed that a deletion of four to seven nucleotides from the X chromosome and a duplication of two to five nucleotides are associated with the translocation. The possible involvement of trinucleotides adjacent to the breakpoints, and of a LINE, a SINE and a stretch of potential Z-DNA within 1 kb of the X chromosome or the chromosome 1 breakpoint, is discussed.
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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 intracellular calcium overload in a murine model of muscular dystrophy. The general cardiomyopathy of the mdx myocardium was evident, with the left atria from mdx consistently producing less force than control atria. This was associated with delayed relaxation. The role of the L-type calcium channels mediating influx was initially investigated. Dihydropyridines had a lower potency in contracting left atria corresponding to a redued dihydropyridine receptor affinity in radioligand binding studies of mdx ventricular homogenates (P<0.05). This was associated with increased ventricular dihydropyridine receptor protein and mRNA levels (P<0.05). The function of the sarcoplasmic reticulum in terms of release and also sequestration of calcium via the sarco-endoplasmic reticulum ATPase were investigated. A lower force of contraction was evident in mdx left atria in response to a range of stimulation frequencies (P<0.05) and concentrations of extracellular calcium (P<0.05). However, in the presence of 1 nM Ryanodine to block sarcoplasmic reticular calcium release, increased stimulation frequency caused similar forces to those obtained in control mice suggesting enhanced calcium influx via L-type calcium channels in mdx. Rapid cooling contractures showed a reduced contracture in mdx compared to control in response to cooling. This suggests some dysfunction in SR storage, which may be associated with the delayed relaxation time. Concentration-response curves to inhibitors of the sarco-endoplasmic reticulum showed no difference in function of the enzyme responsible for calcium uptake into the sarcoplasmic reticulum. Although sarco-endoplasmic reticulum ATPase mRNA was upregulated, no functional benefit was evident. This study indicates that a deficiency of dystrophin leads to upregulation of L-type calcium channels that contribute to increased calcium influx, with no functional change in sarcoplasmic reticular sequestration. Upregulation of the influx pathway is a potential mechanism for the calcium overload observed in mdx cardiac muscle.
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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 that generally reported for similar patient opulations. The clinical utility of the combined mutation protocol for DMD carrier testing clarified the carrier status of an additional one-third (33%) of female relatives compared to a conventional approach of biochemical, pedigree and linkage studies. The generally accepted view that two-thirds of mothers of isolated cases of DMD are themselves mutation carriers is challenged. Although this assumption is valid for duplication and DNA sequence mutations, it is not valid for deletion mutations in the NSW cohort. The incidence of new cases of DMD in the New South Wales population was educed from approximately 1 in 3594 live male births to 1 in 6022 live male births over a 25 year period, indicative of a significant effect of the combination of genetic counselling and improved methods of carrier detection over that period. In a study of a cohort of boys with DMD, who had both psychological and mutational analysis, it was shown that mutations affecting the shorter, C-terminal isoforms of dystrophin are associated with decreased mean intellectual function. A hypothesis is presented that mutations within the long 5' untranslated region of the Dp140 isoform are unlikely to significantly affect expression of this brain-expressed isoform. During the course of studying the NSW DMD cohort a family was identified which exhibited X-linkage and a unique clinical presentation involving episodes of severe and prolonged muscle weakness. A novel variant in the pyruvate dehydrogenase E1 alpha subunit (PDHA 1) was identified. The phenotypic effect of this variant is not proven but a body of evidence implicates this as likely to be causative of the observed phenotype.
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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 presence of pre-existing Tcells responding to dystrophin was responsible for this effect and immunosuppressive drug treatments in a canine model of DMD (cxmd) resulted in a stable expression of dystrophin for 2 years. This study investigated the potential of using immunomodulatory factors such as IDO (Indoleamine 2,3-dioxygenase) and TDO (tryptophan 2,3-dioxygenase) to prolong expression of newly synthesised antigenic products in dystrophic mice. IDO and TDO are the rate-limiting enzymes of the tryptophan catabolism pathway, which regulate the production of kynurenines. These enzymes are known to increase the survival of grafts in transplantation by targeting dendritic cells, which play an important role in the T-cell activation. The plasmid with the general CMV promoter was used for expression of these enzymes in cell lines (HEK 293 cells and SC5 dystrophic myoblasts) and in skeletal muscles in vivo. To achieve targeting of the immunomodulatory constructs specifically into dendritic cells, the CD11c minimal promoter has been used. The plasmid driven by the CMV promoter was used for expression of the mini-dystrophin (an intracellular, structural protein) or the E.coli b-galactosidase (cytoplasmic but also secreted, strongly antigenic protein) in cells in vitro and muscles in vivo. Another plasmid construct expressing the minidystrophin gene under the muscle- specific creatine kinase promoter and the myosin light chain 1/3 enhancer combination was also used for studies of the effects of muscle-specific expressions of the transgene. The cloning resulted in the generation of plasmids with the mini-dystrophin driven by MCK or CMV promoters and IDO transcripts under the control of CMV or CD11c minimal promoter (Chapter 3). The Western blotting analyses confirmed the ability of plasmids to drive specific transgenes' expression in HEK 293, mouse myoblasts and RAW 264.7 macrophage cell lines in vitro. The RT-PCR analyses confirmed the expression of specific plasmids (Chapter 4). The single plasmid expression experiment using the mini-dystrophin construct targeted into muscles was analysed by Western blotting, RT-PCR and immunohistochemistry. While RT-PCR confirmed its expression, the Western blotting results were ill-reproducible and immunohistochemistry did not confirm transgene expression. Moreover, there was no significant difference in the expression of mini-dystrophin driven by CMV or the muscle-specific MCK promoter/MLC enhancer combination (Chapter 5). The use of Pluronic SP1017-2 did not yield any significant improvement in the expression profile of plasmids as compared with normal saline. Hence, normal saline was used in subsequent experiments as a vehicle of choice. Moreover, to support the hypothesis, there was a requirement to analyse the fold increase of the target plasmid expression in the presence of immunomodulatory factors. This could not be achieved using the minidystrophin plasmids due to low expression and lack of reproducibility. Therefore, the expression profile of b-galactosidase used as a model transgene was analysed instead. This protein is immunogenic due to its E.coli origin and is a 120 KDa protein, which is very close to 125 KDa size of the mini-dystrophin. The timeline of b-galactosidase expression was established based on the presence of this protein at 7 and 14 days and its absence 21 days post-injection, as assessed by Western blotting. The expression profiles of IDO1 driven by CMV or CD11c were analysed and confirmed using RT-PCR; IDO1 did not show detectable expression in Western blotting. (Chapter 5). The effects of co-injection of β-galactosidase with IDO1 driven by CMV or CD11c were analysed by Western blotting, RT-PCR and qPCR. In the control samples, 25% of muscles expressed b-galactosidase two weeks after the injection. This increased to 42% (5 out of 12 muscles) in samples co-injected with CD11c-driven IDO1 and 69% (11 out of 16 muscles) in samples co-injected with IDO1 driven by the CMV promoter. This confirmed the hypothesis that the presence of IDO1 has a potential to sustain the expression of an immunogenic transgene and indicated that the more widespread rather than targeted expression of IDO1 in antigen-presenting cells was more effective in supporting such an expression (Chapter 5). The RT-PCR data showed IDO1 expression in most samples, also some that were not showing β-galactosidase in Western blots, and confirmed the plasmid-driven IDO1 expression. The qPCR data also confirmed significantly increased expression of b-galactosidase and IDO1 in co-injected samples compared to β-galactosidaseonly controls. This further supported the hypothesis that co-expression of immunomodulatory IDO1 increases the transgene expression (Chapter 5). The X-gal staining identified the expression of b-galactosidase in very few myofibres, which correlated with the Western blotting data and confirmed the low efficiency of the "naked" plasmid uptake by skeletal muscles. The presence of infiltrating immune cells surrounding these β-galactosidase positive myofibres was probed by immunohistochemical methods (Chapter 6). The qPCR analyses of a selection of the immune cell markers showed statistically significantly higher expression of CD4, CD8a, FoxP3 and COX2 in co-injected samples while expressions of IL-10 and IL-12 were statistically significantly lower in co-injected muscles. The levels of antibodies against beta-galactosidase were quantified by ELISA in control, b-galactosidase-only injected samples and IDO1 co-injected samples. The anti-β-galactosidase antibody levels were significantly lower in co-injected samples compared to the controls (Chapter 6). These results indicate that co-expression of genes encoding immunomodulatory enzymes of the kynurenine pathway can be a feasible strategy for preventing loss of expression of transgenes targeted into muscles with pre-existing inflammation. Hypothesis: "Co-expression of immunomodulatory factors (IDO/TDO) with minidystrophin or beta-galactosidase transgenes in skeletal muscles of the mdx mouse prolongs the expression of these transgenes." Aims:1-To prolong expression of immunogenic transgenes in dystrophic muscles withpre-existing inflammation.2-To prevent this loss of transgene by exploiting co-expression of genes encoding enzymes controlling kynurenine pathways instead of global immunosuppression. Objectives:1-To modify and validate expression profile of plasmids expressing target genes(mini-dystrophin and beta-galactosidase) and immunomodulatory genes(IDO1/IDO2/TDO/FoxO3) both in vitro and in vivo.2-To check the effects of immunomodulatory genes on the prolongation of target genes expression in vivo.3-To assess the occurrence of the tolerance induction.
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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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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 alternative mRNA splicing in mdx skeletal muscles (diaphragm and paraspinal muscles) was evaluated. The left atria of younger (<6 weeks) and older (>15 months) mdx mice showed consistently lower basal forces and responsiveness to increased calcium, while action potential duration was significantly shorter in young mice (3 weeks) and older mice (9 and 12 months) (P<0.05). Cardiac fibrosis increased with age in mdx atria and ventricles and was elevated in young (6-8 weeks) and old (15 months) mdx compared to control mice (P<0.01). This study provided insights into DMD cardiomyopathy, and suggested that very young or old mdx mice provide the most useful models. Mdx mice show thoracolumbar kyphosis like boys with Duchenne Muscular Dystrophy. A novel radiographic index, the Kyphotic Index (KI), was developed and showed that mdx mice are significantly more kyphotic from 9 months of age, an effect maintained until 17 months (P<0.05). At 17 months, the paraspinal and respiratory muscles (latissimus dorsi, diaphragm and intercostal muscles) are significantly weaker and more fibrotic (P<0.05). Administration of AOs at four sites within the diaphragm at 4 and 5 months of age significantly increased twitch and tetanic forces compared to sham treated mdx (P<0.05). However, no difference in collagen was evident and dystrophin was not detected, possibly due to the low concentration of AO utilised. This study suggested that AOs can provide functional improvement in treated skeletal muscles. Monthly injections with AOs into the paraspinal muscles from 2 months to 18 months of age alleviated kyphosis, without significantly altering twitch and tetanic forces of latissimus dorsi, diaphragm and intercostal muscles. There was evidence of less fibrosis in diaphragm and latissimus dorsi muscles (P<0.05) and reduced central nucleation of the latissimus dorsi and intercostal muscles (P<0.05). Again, dystrophin was not detected by immunoblot. These studies indicate that very young and old mdx mice display previously uncharacterised dystrophic features, and are useful models for testing new therapies such as AOs. Low doses of AOs were shown to be safe and efficacious for long-term use, however there remains a need for testing higher concentrations and improved delivery strategies.
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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 et de Becker et des formes symptomatiques chez les femmes. Nous avons pu préciser l'hétérogénéité phénotypique sur le plan moteur, orthopédique et respiratoire (forme sévère et forme intermédiaire de la dystrophie musculaire de Duchenne), sur le plan cardiaque (absence de corrélation entre les atteintes motrice et cardiaque, variabilité de l'atteinte cardiaque), et sur le plan cérébral (atteinte intellectuelle chez les patients avec dystrophie musculaire de Becker, troubles psychologiques des dystrophinopathies). L'utilisation de cet outil par les cliniciens et les généticiens devrait faciliter le travail de recherche clinique et la réalisation des futurs essais cliniques. Ceci nécessite maintenant de développer l'accessibilité de la banque de données et d'envisager sa pérennisation
The objective of this work is to develop the clinical part of the French dystrophinopathy data-base, in order to study the natural history and the genotype-phenotype correlations, and to facilitate the selection of the patients for the future therapeutic trials. The methodology developed for the DMD gene can be generalized and used for the other databases dedicated to genetic diseases. The collection of 70 000 clinical data for 600 patients with an average lon-gitudinal follow-up of 12 years allows to clarify the natural history of the muscular dystrophies of Duchenne and Becker and in symptomatic females. We were able to specify the pheno-typic heterogeneity of the motor, orthopaedic and respiratory involvements (severe form and intermediary form of the Duchenne muscular dystrophy), of the cardiac disorder (absence of correlation between motor and cardiac involvements, variability of the cardiomyopathy), and of the brain function (mental deficiency in the patients with Becker muscular dystrophy, psychological disorders in dystrophinopathies). The use of this tool by the clinicians and the ge-neticists should facilitate their clinical research work and the realization of the future clinical trials. This requires now to develop the accessibility of the database and to ensure its continued existence
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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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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 placed on the investigation of whether hypoventilation, inevitably seen to develop in this population, is related to permanent cognitive deficits in memory and/or executive functioning. The participants who have been identified to suffer from hypoventilation (N=17) are compared on measures of memory and executive functioning to a group of DMD participants of similar age (N=16) who have not yet developed hypoventilation. Other measures are also taken in the form of questionnaires to compare the groups on, including demographics, mood (depression and anxiety), health-related quality of life, sleepiness, and beliefs about sleep. Part Three comprises the Appendices.
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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 de execução da atividade. Resultados: A escala abrange três fases para o sentar e cinco para o levantar, cada fase contendo itens que devem ser avaliados e pontuados. O escore pode variar de 0 a 10 para o sentar e de 0 a 15 para o levantar. Foi demonstrado muito boa repetibilidade da medida do sentar e levantar (ICC = 0,89 e 084, respectivamente) e excelente reprodutibilidade (ICC = 0,93 e 0,92, respectivamente). O Coeficiente Kappa para as 8 fases na análise interexaminadores variou de 0,77 a 1,00 (confiabilidade excelente para 5 fases e substancial para 3 fases), e na análise intra-examinador variou de 0,80 a 1,00 (confiabilidade excelente para 6 fases e substancial para 2 fases). Encontrou-se boa correlação entre as variáveis idade x Escala de Vignos (r= 0,58) e levantar x Escala de Vignos (r= 0,56), enquanto que nas variáveis restantes a correlação foi baixa.Conclusão: A EAF-2 é um instrumento de avaliação confiável que permite avaliar a atividade de sentar e levantar em portadores de DMD de forma detalhada e operacionalizada.
Objective: Construct the Scale of Functional Evaluation of Sit-and-Stand from the Ground for Patients with DMD (EAF-2) and to test its reliability intra and interexaminer. Method: The construction of the scale occurred in stages: 1. Analysis of the movement to sit and stand from the ground in healthy children. 2. Analysis of the movement to sit and stand from the ground in children with DMD. 3. Elaboration of the first version of the scale and the manual of instruction. 4. Evaluation by experts and readjustments generating the final version. 5. Analysis of Reliability inter and intra-examiner and correlation with the Vignos Scale, age and time length for the execution of the activity. Results: The scale comprehends three phases for the sitting and five for the standing, each phase with items that must be evaluated and scored. The score may vary from 0 to 10 for the sitting and from 0 to 15 for the standing. A very good repeatability of the measure of sitting as well as of standing was demonstrated (ICC = 0,89 and 084, respectively) and excellent reproducibility (ICC = 0,93 and 0,92, respectively). The Kappa Coefficient for the 8 phases in the interexaminer analysis varied from 0,77 to 1,00 (excellent reliability for 5 phases and substantial for 3 phases), and in the intra-examiner analysis varied from 0,80 to 1,00 (excellent reliability for 6 phases and substantial for 2 phases). Good correlation was found between the variable age x Vignos Scale (r= 0,58) and to stand x Vignos Scale (r= 0,56), whereas in the remaining variable the correlation was low. Conclusion: The EAF-2 is a trustful instrument of evaluation that allows to evaluate the activity of sitting and standing in people with DMD in a detailed and operationalized way.
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Books on the topic "Duchenne Muscular Dystrophy (DMD)"

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Duchenne muscular dystrophy. Oxford: Oxford University Press, 1987.

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Duchenne muscular dystrophy. 3rd ed. Oxford: Oxford University Press, 2003.

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Bernardini, Camilla, ed. Duchenne Muscular Dystrophy. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7374-3.

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Duchenne muscular dystrophy. 2nd ed. Oxford: Oxford University Press, 1993.

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Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universitaẗsbibliothek, 1985.

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Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universitätsbibliothek, 1985.

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Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universita tsbibliothek, 1985.

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Bergman, Thomas. Precious time: Children living with muscular dystrophy. Milwaukee: Gareth Stevens Pub., 1996.

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Voices of hope: Coping with muscular dystrophy in Mauritius. Port-Louis: Best Graphics Ltd., 2008.

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Emery, Alan E. H. The history of a genetic disease: Duchenne muscular dystrophy or Meryon's disease. London: Royal Society of Medicne Press, 1995.

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Book chapters on the topic "Duchenne Muscular Dystrophy (DMD)"

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Srivastava, Niraj Kumar, Ramakant Yadav, and Deepak Sharma. "Aging: Influence on Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)." In Models, Molecules and Mechanisms in Biogerontology, 149–76. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-3585-3_8.

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Lu-Nguyen, Ngoc, Alberto Malerba, and Linda Popplewell. "Use of Small Animal Models for Duchenne and Parameters to Assess Efficiency upon Antisense Treatment." In Methods in Molecular Biology, 301–13. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2010-6_20.

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AbstractDuchenne muscular dystrophy (DMD) is a rare genetic disease affecting 1 in 5000 newborn boys. It is caused by mutations in the DMD gene with a consequent lack of dystrophin protein that leads to deterioration of myofibers and their replacement with fibro-adipogenic tissue. Using antisense oligonucleotides (AONs) to modify out-of-frame mutations in the DMD gene, named exon skipping, is currently considered among the most promising treatments for DMD patients. The development of this strategy is rapidly moving forward, and AONs designed to skip exons 51 and 53 have received accelerated approval in the USA. In preclinical setting, the mdx mouse model, carrying a point mutation in exon 23 of the murine Dmd gene that prevents production of dystrophin protein, has emerged as a valuable tool, and it is widely used to study in vivo therapeutic approaches for DMD. Here we describe the methodology for intravenous delivery of AONs targeting dystrophin through tail vein of mdx mice. Furthermore, the most relevant functional analyses to be performed in living mice, and the most informative histopathological and molecular assays to evaluate the effect of this treatment are detailed.
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Goossens, Remko, and Annemieke Aartsma-Rus. "In Vitro Delivery of PMOs in Myoblasts by Electroporation." In Methods in Molecular Biology, 191–205. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2010-6_12.

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AbstractAntisense oligonucleotides (AONs) are small synthetic molecules of therapeutic interest for a variety of human disease. Their ability to bind mRNA and affect its splicing gives AONs potential use for exon skipping therapies aimed at restoring the dystrophin transcript reading frame for Duchenne muscular dystrophy (DMD) patients. The neutrally charged phosphorodiamidate morpholino oligomers (PMOs) are a stable and relatively nontoxic AON modification. To assess exon skipping efficiency in vitro, it is important to deliver them to target cells. Here, we describe a method for the delivery of PMOs to myoblasts by electroporation. The described protocol for the Amaxa 4D X unit nucleofector system allows efficient processing of 16 samples in one nucleocuvette strip, aiding in high-throughput PMO efficacy screens.
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López-Martínez, Andrea, Patricia Soblechero-Martín, and Virginia Arechavala-Gomeza. "Evaluation of Exon Skipping and Dystrophin Restoration in In Vitro Models of Duchenne Muscular Dystrophy." In Methods in Molecular Biology, 217–33. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2010-6_14.

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AbstractSeveral exon skipping antisense oligonucleotides (eteplirsen, golodirsen, viltolarsen, and casimersen) have been approved for the treatment of Duchenne muscular dystrophy, but many more are in development targeting an array of different DMD exons. Preclinical screening of the new oligonucleotide sequences is routinely performed using patient-derived cell cultures, and evaluation of their efficacy may be performed at RNA and/or protein level. While several methods to assess exon skipping and dystrophin expression in cell culture have been developed, the choice of methodology often depends on the availability of specific research equipment.In this chapter, we describe and indicate the relevant bibliography of all the methods that may be used in this evaluation and describe in detail the protocols routinely followed at our institution, one to evaluate the efficacy of skipping at RNA level (nested PCR) and the other the restoration of protein expression (myoblot), which provide good results using equipment largely available to most research laboratories.
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Meregalli, Mirella, Andrea Farini, and Yvan Torrente. "Duchenne Muscular Dystrophy: Isolation of CD133-Expressing Myogenic Progenitors from Blood and Muscle of DMD Patients." In Stem Cells and Cancer Stem Cells,Volume 3, 277–85. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-2415-0_28.

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Adhikary, Joy, and Sriyankar Acharyya. "Identification of Biologically Relevant Biclusters from Gene Expression Dataset of Duchenne Muscular Dystrophy (DMD) Disease Using Elephant Swarm Water Search Algorithm." In Advances in Intelligent Systems and Computing, 147–57. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-15-9927-9_15.

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Srivastava, Niraj Kumar. "Proton Nuclear Magnetic Resonance (1H NMR) Spectroscopy-Based Analysis of Lipid Components in Serum/Plasma of Patients with Duchenne Muscular Dystrophy (DMD)." In Methods in Molecular Biology, 195–204. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-7374-3_14.

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Johannesmeyer, David, and Reed Estes. "Duchenne Muscular Dystrophy." In Orthopedic Surgery Clerkship, 581–82. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52567-9_122.

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Gilbert, Patricia. "Duchenne muscular dystrophy." In The A-Z Reference Book of Syndromes and Inherited Disorders, 94–98. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_24.

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Angelini, Corrado. "Duchenne Muscular Dystrophy." In Genetic Neuromuscular Disorders, 3–7. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_1.

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Conference papers on the topic "Duchenne Muscular Dystrophy (DMD)"

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Rossoni, Tainara Emanuele, Ranieri Alvin Stroher Junior, and Bruna Hoeller. "Duchenne Muscular Dystrophy - Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.129.

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Context: Duchenne Muscular Dystrophy (DMD) is an inherited recessive disease linked to the X chromosome, it is a progressive neuromuscular disease most prevalent in the world, affecting 1/3600 male births. It is associated with mutations that lead to loss of dystrophin protein expression, loss of severe muscle, respiratory and cardiac failure. At birth, the signs are generally nonspecific. At 3 years of age there is the appearance of specific changes, starting with muscle weakness, which occurs in an ascending, symmetrical and bilateral manner, becoming evident at around 5 years of age, with difficulty walking, jumping and running, in addition to frequent falls. The disease progresses with cardiorespiratory failure, leading to death between 18 and 25 years. Case Report: Male, 3 years old, with frequent falls, difficulty climbing stairs and rising from the floor, even with support, medical guidance for expectant conduct. At 5 years, clinical worsening, investigation of the condition, changes alteration in the creatinophosphokinase test (8918 U / L), suggesting a hypothesis of Muscular Dystrophy. Karyotype performed, with revelation of genetic changes compatible with DMD. Family heredogram, showing a brother without traits for DMD and a mother with an allele for the disease. The patient evolved with progressive loss of motor functions, reaching inability to move around at 9 years of age and the appearance of cardiac changes - left ventricular systolic dysfunction and extrasystoles. Currently, the patient presents marked movement restriction and undergoes palliative treatment. Conclusions: A DMD relies only on palliative therapy, the recognition of the initial clinical manifestations is essential for its investigation, diagnosis and early treatment, enabling improvement in quality and life expectancy.
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Cassino, Theresa R., Masaho Okada, Lauren Drowley, Johnny Huard, and Philip R. LeDuc. "Mechanical Stimulation Improves Muscle-Derived Stem Cell Transplantation for Cardiac Repair." In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-192941.

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Muscle-derived stem cells (MDSCs) have been successfully transplanted into both skeletal (1) and cardiac muscle (2) of dystrophin-deficient (mdx) mice, and show potential for improving cardiac and skeletal dysfunction in diseases like Duchenne muscular dystrophy (DMD). Our previous study explored the regeneration of dystrophin-expressing myocytes following MDSC transplantation into environments with distinct blood flow and chemical/mechanical stimulation attributes. After MDSC transplantation within left ventricular myocardium and gastrocnemius (GN) muscles of the same mdx mice, significantly more dystrophin-positive fibers were found within the myocardium than in the GN. We hypothesized that the differences in mechanical loading of the two environments influenced the transplantation and explored whether using MDSCs exposed to mechanical stimulation prior to transplantation could improve transplantation. Our study shows increased engraftment into the heart and GN muscle for cells pretreated with mechanical stretch for 24 hours. This increase was significant for transplantation into the heart. These studies have implications in a variety of applications including mechanotransduction, stem cell biology, and Duchenne muscular dystrophy.
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Lomauro, Antonella, Marianna Romei, Maria Grazia D'Angelo, and Andrea Aliverti. "The natural course of lung volumes in Duchenne Muscular Dystrophy (DMD)." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa3331.

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Rummey, Christian, Shabir Hasham, and Oscar Mayer. "Effects of idebenone on pulmonary morbidity in Duchenne muscular dystrophy (DMD)." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.oa2927.

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Nogueira, Cristiana Bello Dultra, João Gustavo dos Anjos Morais Oliveira, and Alexandre Martins Lopes Filho. "The use of biomarkers in Duchenne muscular dystrophy – a literature review." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.330.

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Background: Biomarkers are indicators associated with a disease, used for diagnosis, monitoring progression and prognosis. In Duchenne Muscular Dystrophy (DMD), they are very important. Although the literature describes various types of biomarkers for it, there is no consensus of their appropriate use. Objective: Describe the use of biomarkers associated with DMD. Methods: This literature review used articles searched in PubMed using the formula: (“Duchenne Muscular Dystrophy”) AND (“Biomarkers”). Those that corroborate with the objective of this review were included. Model’s studies and studies that evaluated biomarkers in other diseases were excluded. Results: Cohort and case-control studies propose a staging score that evaluate the infiltration of fat into the muscles and the edema in magnetic resonance imaging (MRI) sequences. Other studies indicate that the relation between volume and cross-sectional can be a prognostic biomarker. Some clinical trials already use these MRI markers to evaluate the effectiveness of their therapies. Creatine Kinase, a serum marker, has been shown in clinical trials to be a good biomarker in diagnosis’ moment. However, due to its low specificity, it is not used in prognosis. In model studies, miRNAs have been shown to be useful in various spheres, and can be used as biomarkers in muscular dystrophies, helping with diagnosis, staging and treatment. Conclusions: The use of biomarkers in DMD is not well defined, for financial reasons and lack of more concrete evidence. Therefore, further studies are needed.
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Connolly, M., A. Fallon, R. O’Hanlon, and D. Waterhouse. "1 Pictorial evolution of focal myocardial fibrosis in duchenne muscular dystrophy (DMD)." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 4th – Saturday October 6th 2018, Galway Bay Hotel, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2018. http://dx.doi.org/10.1136/heartjnl-2018-ics.1.

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Cassino, Theresa R., Masaho Okada, Lauren M. Drowley, Joseph Feduska, Johnny Huard, and Philip R. LeDuc. "Using Mechanical Environment to Enhance Stem Cell Transplantation in Muscle Regeneration." In ASME 2007 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2007. http://dx.doi.org/10.1115/sbc2007-176545.

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Muscle-derived stem cell (MDSC) transplantation has shown potential as a therapy for cardiac and skeletal muscle dysfunction in diseases such as Duchenne muscular dystrophy (DMD). In this study we explore mechanical environment and its effects on MDSCs engraftment into cardiac and skeletal muscle in mdx mice and neoangiogenesis within the engraftment area. We first looked at transplantation of the same number of MDSCs into the heart and gastrocnemius (GN) muscle of dystrophic mice and the resulting dystrophin expression. We then explored neoangiogenesis within the engraftments through quantification of CD31 positive microvessels. This study is important to aid in determining the in vivo environmental factors leading to large graft size which may aid in determining optimum transplantation conditions for muscle repair.
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Garay Llorente, Elena, Sandra Pedrero Tejada, Valentin Cabriada Nuño, Sonia Castro Quintas, Borja Ortiz De Urbina Antia, Patricia Sobradillo Ecenarro, Milagros Iriberri Pascual, Joseba Andia Iturrate, Mikel Santiago Burruchaga, and Amaia Urrutia Gajate. "Mechanical Ventilation (MV) in patients with Duchenne Muscular Dystrophy (DMD) in our area." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa2306.

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LoMauro, Antonella, Erardo Marchi, Grazia D'Angelo, and Andrea Aliverti. "Patterns of changes of the flow-volume curve in Duchenne Muscular Dystrophy (DMD)." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1168.

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Leinonen, Mika, and Thomas Meier. "Meta-analysis of two clinical trials: Slowing respiratory decline in Duchenne muscular dystrophy (DMD)." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa1043.

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Reports on the topic "Duchenne Muscular Dystrophy (DMD)"

1

Martin, Paul T. Translational Studies of GALGT2 Gene Therapy for Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, October 2014. http://dx.doi.org/10.21236/ada613577.

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Martin, Paul T. Translational Studies of GALGT2 Gene Therapy for Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada598203.

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Byrne, Barry J. Advanced Gene Therapy for Treatment of Cardiomyopathy and Respiratory Insufficiency in Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, September 2014. http://dx.doi.org/10.21236/ada613171.

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