Relevant bibliographies by topics / Dystrophy

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Dystrophy'

Author: Grafiati
Published: 4 June 2021
Last updated: 30 July 2024

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Journal articles on the topic "Dystrophy"

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Straub, Volker, Jill A. Rafael, Jeffrey S. Chamberlain, and Kevin P. Campbell. "Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption." Journal of Cell Biology 139, no. 2 (October 20, 1997): 375–85. http://dx.doi.org/10.1083/jcb.139.2.375.

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Genetic defects in a number of components of the dystrophin–glycoprotein complex (DGC) lead to distinct forms of muscular dystrophy. However, little is known about how alterations in the DGC are manifested in the pathophysiology present in dystrophic muscle tissue. One hypothesis is that the DGC protects the sarcolemma from contraction-induced damage. Using tracer molecules, we compared sarcolemmal integrity in animal models for muscular dystrophy and in muscular dystrophy patient samples. Evans blue, a low molecular weight diazo dye, does not cross into skeletal muscle fibers in normal mice. In contrast, mdx mice, a dystrophin-deficient animal model for Duchenne muscular dystrophy, showed significant Evans blue accumulation in skeletal muscle fibers. We also studied Evans blue dispersion in transgenic mice bearing different dystrophin mutations, and we demonstrated that cytoskeletal and sarcolemmal attachment of dystrophin might be a necessary requirement to prevent serious fiber damage. The extent of dye incorporation in transgenic mice correlated with the phenotypic severity of similar dystrophin mutations in humans. We furthermore assessed Evans blue incorporation in skeletal muscle of the dystrophia muscularis (dy/dy) mouse and its milder allelic variant, the dy2J/dy2J mouse, animal models for congenital muscular dystrophy. Surprisingly, these mice, which have defects in the laminin α2-chain, an extracellular ligand of the DGC, showed little Evans blue accumulation in their skeletal muscles. Taken together, these results suggest that the pathogenic mechanisms in congenital muscular dystrophy are different from those in Duchenne muscular dystrophy, although the primary defects originate in two components associated with the same protein complex.
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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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Spaulding, HR, C. Ballmann, JC Quindry, MB Hudson, and JT Selsby. "Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models." JRSM Cardiovascular Disease 8 (January 2019): 204800401987958. http://dx.doi.org/10.1177/2048004019879581.

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Background Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction.
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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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Bergman, Robert L., Karen D. Inzana, William E. Monroe, Linda G. Shell, Ling A. Liu, Eva Engvall, and G. Diane Shelton. "Dystrophin-Deficient Muscular Dystrophy in a Labrador Retriever." Journal of the American Animal Hospital Association 38, no. 3 (May 1, 2002): 255–61. http://dx.doi.org/10.5326/0380255.

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Sex-linked muscular dystrophy associated with dystrophin deficiency has been reported in several breeds of dogs and is best characterized in the golden retriever. In this case report, a young, male Labrador retriever with dystrophin-deficient muscular dystrophy is presented. Clinical signs included generalized weakness, lingual hypertrophy, and dysphagia. Electromyographic abnormalities including complex repetitive discharges were present. Serum creatine kinase concentration was dramatically elevated. Histopathological changes within a muscle biopsy specimen confirmed a dystrophic myopathy, and dystrophin deficiency was demonstrated by immunohisto-chemical staining. While X-linked muscular dystrophy has not previously been reported in the Labrador retriever, a hereditary myopathy with an autosomal recessive mode of inheritance has been characterized. A correct diagnosis and classification of these two disorders are critical for breeders and owners since both the mode of inheritance and the prognosis differ.
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Pelosi, Laura, Laura Forcina, Carmine Nicoletti, Bianca Maria Scicchitano, and Antonio Musarò. "Increased Circulating Levels of Interleukin-6 Induce Perturbation in Redox-Regulated Signaling Cascades in Muscle of Dystrophic Mice." Oxidative Medicine and Cellular Longevity 2017 (2017): 1–10. http://dx.doi.org/10.1155/2017/1987218.

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Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein. The pathology of dystrophic muscle includes degeneration, necrosis with inflammatory cell invasion, regeneration, and fibrous and fatty changes. Nevertheless, the mechanisms by which the absence of dystrophin leads to muscle degeneration remain to be fully elucidated. An imbalance between oxidant and antioxidant systems has been proposed as a secondary effect of DMD. However, the significance and precise extent of the perturbation in redox signaling cascades is poorly understood. We report that mdx dystrophic mice are able to activate a compensatory antioxidant response at the presymptomatic stage of the disease. In contrast, increased circulating levels of IL-6 perturb the redox signaling cascade, even prior to the necrotic stage, leading to severe features and progressive nature of muscular dystrophy.
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Baraibar-Churio, Arantxa, Míriam Bobadilla, Florencio J. D. Machado, Neira Sáinz, Carmen Roncal, Gloria Abizanda, Felipe Prósper, Josune Orbe, and Ana Pérez-Ruiz. "Deficiency of MMP-10 Aggravates the Diseased Phenotype of Aged Dystrophic Mice." Life 11, no. 12 (December 14, 2021): 1398. http://dx.doi.org/10.3390/life11121398.

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Matrix metalloproteinases (MMPs) have been implicated in the progression of muscular dystrophy, and recent studies have reported the role of MMP-10 in skeletal muscle pathology of young dystrophic mice. Nevertheless, its involvement in dystrophin-deficient hearts remains unexplored. Here, we aimed to investigate the involvement of MMP-10 in the progression of severe muscular dystrophy and to characterize MMP-10 loss in skeletal and cardiac muscles of aged dystrophic mice. We examined the histopathological effect of MMP-10 ablation in aged mdx mice, both in the hind limb muscles and heart tissues. We found that MMP-10 loss compromises survival rates of aged mdx mice, with skeletal and cardiac muscles developing a chronic inflammatory response. Our findings indicate that MMP-10 is implicated in severe muscular dystrophy progression, thus identifying a new area of research that could lead to future therapies for dystrophic muscles.
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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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Niebrój-Dobosz, Irena, and Irena Hausmanowa-Petrusewicz. "The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles." Acta Biochimica Polonica 52, no. 2 (May 25, 2005): 449–52. http://dx.doi.org/10.18388/abp.2005_3458.

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In both forms of muscular dystrophy, the severe Duchenne's muscular dystrophy (DMD) with lifespan shortened to about 20 years and the milder Becker dystrophy (BDM) with normal lifespan, the gene defect is located at chromosome locus Xp21. The location is the same in the experimental model of DMD in the mdx mice. As the result of the gene defect a protein called dystrophin is either not synthesized, or is produced in traces. Although the structure of this protein is rather well established there are still many controversies about the dystrophin function. The most accepted suggestion supposes that it stabilizes sarcolemma in the course of the contraction-relaxation cycle. Solving the problem of dystrophin function is a prerequisite for introduction of an effective therapy. Among the different factors which might be responsible for the appearance and progress of dystrophic changes in muscles there is an excessive action of oxidative stress. In this review data indicating the influence of oxidative stress on the severity of the pathologic processes in dystrophy are discussed. Several pieces of data indicating the action of oxidative damage to different macromolecules in DMD/BDM are presented. Special attention is devoted to the degree of oxidative damage to muscle proteins, the activity of neuronal nitric oxide synthase (nNOS) and their involvement in defining the severity of the dystrophic processes. It is indicated that the severity of the morbid process is related to the degree of oxidative damage to muscle proteins and the decrease of the nNOS activity in muscles. Estimation of the degree of the destructive action of oxidative stress in muscular dystrophy may be a useful marker facilitating introduction of an effective antioxidant therapy and regulation of nNOS activity.
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Ibrahim Sory, P., T. Sidi, L. Guida, K. Boureima, M. Alassane Bameye, T. Mohomodine Ibrahim, K. Abdoulaye, and C. Idrissa Ahmadou. "Dystrophie Musculaire de Duchenne: Aspects cliniques, biologiques et évolutifs à propos de cinq cas dans le service de Rhumatologie au CHU du Point G." Rhumatologie Africaine Francophone 6, no. 2 (January 19, 2024): 18–23. http://dx.doi.org/10.62455/raf.v6i2.53.

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Résumé La dystrophie musculaire de Duchenne (DMD) due à la non expression de la dystrophine est liée au chromosome X. Décrite au 19e siècle, est la plus courante dystrophie musculaire de l’enfant [1, 2]. L’incidence est estimée à 30 cas pour 100 000 naissances [1, 2]. But- étudier les caractères cliniques, biologiques et évolutifs de la dystrophie musculaire de Duchenne. Patients et Méthodes : Il s’est agi d’une étude rétrospective portant sur 5 dossiers de DMD, colligés en 7 ans. Résultats Nous rapportons cinq dossiers de garçons colligés entre 2005 et 2012, 2012, d’âge moyen de 7 ans avec des extrêmes de 1 et 12 ans. L’hypertrophie des mollets et la présence d’un signe de Gowers chez 4/5 patients. Le caractère familial était présent chez 2 garçons âgés de 5 et 10 ans à l’inclusion dont un mariage consanguin. L’examen anatomopathologique musculaire a conclu à des lésions dystrophiques. L’immunohistochimie n’a pas trouvé d’expression de la dystrophine. La corticothérapie précocement instituée à 0,5 mg/kg/jour associée à la rééducation kinésithérapie a maintenu l’autonomie des patients. Conclusion La corticothérapie retarderait les complications cardio-pulmonaires. Associée à la rééducation kinésithérapie et aux conseils pratiques elle a diminué les chutes. Mots clés : Dystrophie – Musculaire – Duchenne, Rhumatologie Bamako Abstract: Introduction Duchenne’s muscular dystrophy (DMD) caused by no dystrophin expression is linked to X chromosome. Described in the 19th century, it is the most common muscular dystrophy of the child [1, 2]. The incidence is estimated at 30 cases per 100 000 births [1, 2]. Goal - Study clinical, biological and evolutive aspects of the Duchenne's Muscular Dystrophy. Patients and Methods: It was a retrospective study about 5 cases of DMD, collected in 7 years [2005-2012]. Results During our study from the period of 2005 to 2012, we had 5 cases of boys with an average age of 7 years and the extreme age from 1 year to 12 years. The calf’s hypertrophy and the presence of a Gowers’s sign in 4/5 patients. Family caracteristic was present in two boys aged 5 and 10 years with a consanguineous marriage. Muscular Histological examination concluded dystrophic lesions. The immunohistiochemistry found no expression of dystrophin. Corticosteroids early established at 0.5 mg / kg / day combined with physiotherapy rehabilitation maintained the autonomy of patients. . Conclusion Corticosteroids would slow douwn cardiopulmonary complications. Associated with the physiotherapy rehabilitation and practical advice, it has decreased falls. Keywords: Duchenne’s muscular dystrophy, Rheumatology, Bamako
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Dissertations / Theses on the topic "Dystrophy"

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Gaschen, Lorrie. "Cardiomyopathy in dystrophin-deficient hypertrophic feline muscular dystrophy /." [S.l.] : [s.n.], 1998. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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Howard, Judith. "Electrodiagnostic evaluation of dystrophin-deficient hypertrophic feline muscular dystrophy /." [S.l.] : [s.n.], 2000. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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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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Abmayr, Simone. "Gene therapy for muscular dystrophy using secondary modifiers of the dystrophic phenotype." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=973452595.

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Montanaro, Federica. "The role of dystroglycan in muscular dystrophy and synaptogenesis." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0020/NQ55361.pdf.

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Anderson, Jennifer Louise Medical Sciences Faculty of Medicine UNSW. "Cerebellar synaptic plasticity in two animal models of muscular dystrophy." Publisher:University of New South Wales. Medical Sciences, 2008. http://handle.unsw.edu.au/1959.4/43524.

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Duchenne muscular dystrophy (DMD) and congenital muscular dystrophy 1A (MDC1A) are the two most common forms of muscular dystrophy in humans, caused by mutations in dystrophin and laminin α2 genes respectively. Both are severe forms of the disease that lead to premature death due and are both now known to have a significant effect on the central nervous system. This project investigated the role of both proteins involved in each of these diseases in cerebellar Purkinje cells of two murine models of disease: the mdx mouse a dystrophin-deficient model of DMD and the dy2J a laminin α2-deficient murine model of MDC1A. In the case of dystrophin further studies were undertaken in order to determine if increasing age had any effects on cerebellar function. It was found that there is no difference in electrophysiological characteristics (RMP, IR, eEPSP) of the cells when compared to appropriate control groups, nor was there any difference when young and aged dystrophin-deficient mdx groups were compared. Evoked IPSP characteristics were examined in young mdx cerebellar Purkinje cells and again no difference was found when compared to wildtype. There was a significant difference in response to the GABAA antagonist bicuculline, with wildtype increasing eEPSP amplitude by almost double that found in mdx. There was no difference in short term plasticity as measured by paired pulse facilitation in any of these groups. There was no difference in paired pulse depression at the inhibitory interneuron- Purkinje cell synapse of young wildtype and mdx cerebellar Purkinje cells. There a significant blunting of long term depression (LTD, (a form of long term synaptic plasticity) between young wildtype and mdx. When young wildtype animals were compared to aged wildtype animals LTD was found to be similar, when young mdx was compared to aged mdx, there was a recovery of LTD seen in the aged population. There was also significant differences in LTD found when littermate controls were compared to dy2J (laminin α2 mutants). A third of the phenotypic animals (dy2J) potentiated. Finally when rebound potentiation (a GABA-ergic form of long term synaptic plasticity in the cerebellum) was compared in young wildtype and mdx mice, mdx mice displayed depression, rather than the expected potentiation in contrast to potentiation (or no change) as seen in all wildtype cells.
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Pearce, Marcela. "Genomic structure of the human utrophin gene." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318897.

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Coovert, Daniel David. "Analysis of dystrophin in duchenne muscular dystrophy and SMN in spinal muscular atrophy /." The Ohio State University, 1998. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487951595500021.

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Reza, Mojgan. "Engineering and optimisation of mini-dystrophin constructs for Duchenne muscular dystrophy gene therapy." Thesis, University of Newcastle upon Tyne, 2015. http://hdl.handle.net/10443/2827.

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Muscular dystrophies (MDs) are inherited disorders characterised by muscle weakness and atrophy. One of the most severe forms is Duchenne muscular dystrophy (DMD) which together with the milder allelic form Becker muscular dystrophy (BMD) are known as the dystrophinopathies and result from defects in the X-linked gene encoding dystrophin. Dystrophin is a structural protein of the muscle that connects the internal cytoskeleton of muscle fibres to the extracellular matrix. DMD is also amongst the most common forms of muscular dystrophy, affecting ~1 in 4000 live male birth and manifests as rapidly progressive muscle degeneration leading to loss of ambulation and death in the second or third decade from respiratory or cardiac failure. Currently, there is no cure for this devastating disease. Clinical management of symptoms and complications is limited to stabilising the condition, slowing deterioration over time and palliative care. Since discovery of the DMD gene in 1986, researchers have dedicated substantial effort into vector technologies, facilitating the use of gene therapy to reintroduce a functional copy of the dystrophin gene into muscle fibres, a potential approach to treat DMD patients. However, this approach poses additional challenges relative to many gene therapy approaches since the full-length dystrophin cDNA is ~14 kb, exceeding the packaging capacity of most viral vectors. A number of large internal in-frame dystrophin deletions have been identified in patients that produce a relatively mild phenotype with later age of onset and a slower rate of disease progression than classical DMD. This observation has inspired the construction of internally truncated, but largely functional versions of dystrophin suitable for gene transfer using viral vectors. So far the most widely used miniaturised dystrophin transgenes have been tested in AAV-mediated gene delivery which has identified several limitations indicating the use of more favourable transgenes that have smaller deletions, yet carrying more functional parts of dystrophin. In this study human mini-dystrophin constructs of 4.3-7.7 kb in size were designed that retain key functional elements of dystrophin molecule and their relative functionality investigated in mdx mice. The ultimate aim of this study is the characterisation and optimisation of these mini-dystrophin constructs for gene delivery studies via viral vectors as a therapeutic tool for treatment of Duchenne muscular dystrophy.
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Winblad, Stefan. "Myotonic dystrophy type 1 : cognition, personality and emotion /." Göteborg : Göteborg University, Dept. of Psychology, 2006. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=015464022&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.

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Books on the topic "Dystrophy"

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Naff, Clay Farris. Muscular dystrophy. Detroit: Greenhaven Press, 2011.

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Bushby, Katherine M. D., and Louise V. B. Anderson. Muscular Dystrophy. New Jersey: Humana Press, 2001. http://dx.doi.org/10.1385/1592591388.

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Emery, Alan E. H. Muscular dystrophy. 3rd ed. Oxford: Oxford University Press Inc., 2008.

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Harper, Peter S. Myotonic dystrophy. 2nd ed. New York: Oxford University Press, 2009.

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Takahashi, Masanori P., and Tsuyoshi Matsumura, eds. Myotonic Dystrophy. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5.

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Huml, Raymond A., ed. Muscular Dystrophy. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7.

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D, Rioux Stephen, and Wong Brenda M. D, eds. Muscular dystrophy. Berkeley Heights, NJ: Enslow Publishers, 2000.

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Johanson, Paula. Muscular dystrophy. New York: Rosen Pub. Group, 2008.

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Emery, Alan E. H. Muscular dystrophy. 3rd ed. Oxford: Oxford University Press Inc., 2008.

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Burnett, Gail Lemley. Muscular dystrophy. Parsippany, N.J: Crestwood House, 1996.

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Book chapters on the topic "Dystrophy"

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Emami-Naeini, Parisa, and Nadeem Fatteh. "Juvenile Epithelial Dystrophy (Meesmann Dystrophy)." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_824-1.

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Emami-Naeini, Parisa, and Nadeem Fatteh. "Juvenile Epithelial Dystrophy (Meesmann Dystrophy)." In Encyclopedia of Ophthalmology, 977–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_824.

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Park, Jung Hyun. "Cone Dystrophy/Cone-Rod Dystrophy." In Inherited Retinal Disease, 169–73. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-7337-5_10.

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Matsuura, Tohru. "Genetics of Myotonic Dystrophy." In Myotonic Dystrophy, 1–18. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_1.

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Takada, Hiroto. "Lipid Metabolism in Myotonic Dystrophy." In Myotonic Dystrophy, 161–70. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_10.

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Nozaki, Sonoko. "Dysphagia in Myotonic Dystrophy." In Myotonic Dystrophy, 171–87. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_11.

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Araki, Toshiyuki, Masayoshi Kamon, and Hidetoshi Sakurai. "Disease Modeling and Drug Development with DM1 Patient-Derived iPS Cells." In Myotonic Dystrophy, 189–201. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_12.

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Nakamori, Masayuki. "Therapeutic Development in Myotonic Dystrophy." In Myotonic Dystrophy, 203–14. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_13.

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Kino, Yoshihiro, Jun-ichi Satoh, and Shoichi Ishiura. "Molecular Mechanisms of Myotonic Dystrophy: RNA-Mediated Pathogenesis and RNA-Binding Proteins." In Myotonic Dystrophy, 19–43. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_2.

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Takahashi, Masanori P. "Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism." In Myotonic Dystrophy, 45–61. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5_3.

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Conference papers on the topic "Dystrophy"

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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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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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de Feraudy, Yvan, Rabah Yaou, Karim Wahbi, France Leturcq, and Helge Amthor. "Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy." In Abstracts of the 47th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique). Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685441.

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Hilton, S., M. Christen, T. Bilzer, K. Matiasek, V. Jagannathan, T. Leeb, and U. Giger. "Dystrophin (DMD) missense variant in cats with Becker type muscular dystrophy." In 31. Jahrestagung der FG „Innere Medizin und klinische Labordiagnostik“ der DVG (InnLab) – Teil 1: Vorträge. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0043-1760811.

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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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Lima, Karlla Danielle Ferreira, Pedro Henrique Marte Arruda Sampaio, Marco Antonio Veloso Albuquerque, and Edmar Zanoteli. "Evaluation of lung function and respiratory muscles in Duchenne muscular dystrophy." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.695.

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Introduction: Duchenne muscular Dystrophy (DMD) is a genetic disease of recessive inheritance linked to the X chromosome, caused by a mutation in the dystrophin gene. This mutation will result in absence of the dystrophin protein, leading to the degeneration of muscle skeletal. The disease is the most common childhood-onset form of muscular dystrophy and affects males almost exclusively. DMD symptoms onset occurs in early childhood, usually between the ages of three and five years, with progressive muscle weakness and loss of gait in adolescence, progressive cardiomyopathy, and respiratory failure, leading to death. Spirometric parameters such as forced vital capacity (FVC) are used to monitor lung function. Muscle ultrasound has been increasingly used in neuromuscular diseases, being a possible tool for evaluating respiratory muscles individually and a non-invasive method of assessing diaphragm function. Objectives: This study aims to evaluate lung function and respiratory muscles in patients with DMD at different stages of the disease. Methods: This is a prospective observational study with 25 patients with DMD follow-up at the Hospital das Clínicas de São Paulo (HC/FMUSP), with Assessment of diaphragmatic thickness by ultrasonography in DMD patients and correlate with FVC. Results: Diphragmatic thickness significantly decreased with age and with the reduction of the FVC in DMD patients. Some patients had pseudo hypertrophy of the diaphragm but without related reduction in lung function. Conclusion: Ultrasound of respiratory and appendicular muscles can help in the assessment of respiratory function and possible indirect markers of worsening lung function.
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Arotaritei, Dragos, Catalin Ionite, and Calin Corciova. "EDUCATIONAL TOOL FOR MATHEMATICAL MODEL OF MUSCULAR DYSTROPHY." In eLSE 2019. Carol I National Defence University Publishing House, 2019. http://dx.doi.org/10.12753/2066-026x-19-174.

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According to medical literature there are more than 30 different types of muscular dystrophy. Among them Duchenne Muscular Dystrophy is practically the most frequent. Around fifty percent of pediatric patients have this severe type disease that is due to deficiency of a protein (dystrophin), which is main the responsible to release the fibers in muscles. Mathematical models can help the students to understand the importance of immune system into to process of degeneration/regeneration of muscle. The fact that the damaged fibers are never completely cleared can be seen from simulation. Creating an interface for The Duchenne's mathematical model can simulate these aspects. The model has five differential equations (Dell'Acqua-Castiglione's model with some refinements) of first order and data used for fit the model is taken from experimental mice data, existent in literature. The experimental Using preservation law improves the old model, allowing for a much easier software deployment. The user has the possibility to modify the constants of the model in order to have an asymptotic stability but also to evaluate the influence of the constants on the dynamics of the model. The model for failure probability, time to failure is usually modeled by a lognormal function. The used has the possibility to choose an alternative at this function, a Weibull based distribution one, in order to see how strong could be the influence of degradation model on a practical data obtained in muscular dystrophy. The user has also the possibility to introduce tabular data that models the failure curve and the software module will automatically fit in one of the five models available in the library to be used in simulation. The software is constructed in a tutorial manner in order to provide to students the knowledge and ideas for eventually cure for this disease.
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Oliveira, Marco Antônio Rodrigues Gomes de, and Isaura Maria Mesquita Prado. "Evidence and affects in Duchenne muscular dystrophy in children and Golden Retriever dogs." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.302.

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Introduction: Progressive muscular dystrophies differ in different ways due to their age of manifestation, the distribution of muscle weakness and the association of heart, central nervous system and peripheral nervous system. The most severe and common form of muscular dystrophies is Duchenne muscular dystrophy (DMD). Its involvement is 1/3500 male babies born alive and is attributed to 80% of cases of dystrophinopathies. The impairment of the dystrophin-glycoprotein complex in Becker and Duchenne dystrophies, in most congenital and girdle dystrophies, destruction of the sarcolemmal muscle fiber occurs, releasing muscle serum enzymes. Its characteristics are defined by clinical, histological and electromyographic criteria. The symptoms result from the weakness of the skeletal, cardiac and visceral muscles; progressively worsen; histological changes include muscle degeneration and regeneration, without evidence of abnormal storage of any metabolic; the disease is heritable, even without familial reports. Objectives: To compare the evidence and manifestations of DMD in humans in relation to Golden Retriever dogs with muscular dystrophy (GRMD), from breeders from Seattle-USA, named Canil GRMD — Brasil from the Department of Anatomy of the Faculty of Veterinary Medicine and Zootechnics of the Universidade de São Paulo. Conclusion: The model that most resembles humans are dogs, in terms of clinical and pathological aspects of muscular dystrophy. Golden Retriever dogs (GRMD) are genetically homologous to humans, and their histological lesions are identical to patients with DMD. GRMD dogs have been characterized as an ideal model for studies of the pathological and genetic mechanisms of DMD, as well as therapeutic trials.
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Moore, Christopher J., Mallory R. Selzo, Melissa C. Caughey, Diane O. Meyer, Regina Emmett, James F. Howard, Manisha Chopra, and Caterina M. Gallippi. "Viscoelastic Response (VisR) assessment of longitudinal dystrophic degeneration in clinical Duchenne muscular dystrophy." In 2015 IEEE International Ultrasonics Symposium (IUS). IEEE, 2015. http://dx.doi.org/10.1109/ultsym.2015.0225.

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Tawil, Al-Rabi, and Michiel Tent. "Losmapimod for facioscapulohumeral muscular dystrophy." In 2022 Annual Meeting American Academy of Neurology, edited by Hans-Peter Hartung. Baarn, the Netherlands: Medicom Medical Publishers, 2022. http://dx.doi.org/10.55788/1d8314a3.

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Reports on the topic "Dystrophy"

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Cox, Gregory A. Translational Research for Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, May 2014. http://dx.doi.org/10.21236/ada609750.

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Cox, Gregory A. Translational Research for Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, May 2012. http://dx.doi.org/10.21236/ada564543.

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Huard, Johnny, Eric Hoffman, John Day, Kevin Campbell, Xiao Xiao, and Paula Clemens. New Advanced Technology for Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, November 2009. http://dx.doi.org/10.21236/ada536121.

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Cnaan, Avital. CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, September 2012. http://dx.doi.org/10.21236/ada567633.

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Cnaan, Avital. CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, September 2013. http://dx.doi.org/10.21236/ada599521.

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Muzafirovic, Armin. Muscular Dystrophy: Lifestyle Strategies to Improve Quality of Life. Ames (Iowa): Iowa State University, December 2023. http://dx.doi.org/10.31274/cc-20240624-1034.

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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 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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Avrit, Raegan, Courtney Aycock, Keelie Johnson, Lindsay Lampkin, and Cassady Ozanich. Muscular Dystrophy and Quality of Life: A Critically Appraised Topic. University of Tennessee Health Science Center, May 2022. http://dx.doi.org/10.21007/chp.mot2.2022.0020.

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Cortés, Almendra, Fernanda Larenas, Sofía Yáñez, Elizabeth Fernández, Luis Vasconcello-Castillo, Xavier Alsina-Restoy, Gonzalo Rivera-Lillo, and Rodrigo Torres-Castro. Pulmonary function in people with myotonic dystrophy: a systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, March 2022. http://dx.doi.org/10.37766/inplasy2022.3.0130.

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