Готові списки джерел за темами / Muscular dystrophy

Добірка наукової літератури з теми "Muscular dystrophy"

Автор: Grafiati
Опубліковано: 4 червня 2021
Оновлено: 10 березня 2023

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Статті в журналах з теми "Muscular dystrophy"

1

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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2

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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3

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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4

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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5

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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6

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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7

Bandikatla, Sarada. "Muscular Dystrophy – Review." International Journal of Psychosocial Rehabilitation 24, no. 4 (April 30, 2020): 6540–48. http://dx.doi.org/10.37200/ijpr/v24i4/pr2020464.

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8

Gambino, Anya N., Pamela J. Mouser, G. Diane Shelton, and Nena J. Winand. "Emergent Presentation of a Cat with Dystrophin-Deficient Muscular Dystrophy." Journal of the American Animal Hospital Association 50, no. 2 (March 1, 2014): 130–35. http://dx.doi.org/10.5326/jaaha-ms-5973.

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This report describes a case of feline dystrophin-deficient muscular dystrophy (DDMD) with an atypical clinical presentation. A novel gene mutation is reported to be responsible for dystrophin-deficient hypertrophic muscular dystrophy. In an emergency setting, clinicians should be aware of muscular dystrophy in young cats and the importance of elevated creatine kinase (CK) activity. Muscular dystrophy is rare but can present both a diagnostic and therapeutic challenge in an emergency setting. Patients with muscular dystrophy have a progressive disease with no specific treatment and have an increased risk for death during their hospital stay.
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9

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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10

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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Дисертації з теми "Muscular dystrophy"

1

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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2

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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3

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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4

Holst, Holst. "The history of muscular dystrophy." Thesis, University of British Columbia, 1989. http://hdl.handle.net/2429/27477.

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The muscular dystrophies, Duchenne muscular dystrophy being the most common type, are a group for which there is no apparent pathology to the spinal motor neurons concomitant to progressive muscular degeneration. After this fact was established during the nineteenth century through postmortem examination, Charcot divided muscular disease into the "Great Classes" of myopathy and neuropathy. Erb's study of the histopathology brought a further division between the two before death and therefore the muscle biopsy became a tool for differential diagnosis. He also discovered that the response of muscle in myopathy and neuropathy to the application of electric current differed. While the response of myopathic muscle was progressively diminishing and equally so to the application of either galvanic or alternating current, neuropathic muscle maintained its ability to contract upon the application of galvanic current during the course of the disease. As well as the animating power of the nervous system by way of the anterior nerves, its trophic effect upon the muscle was evident by loss of volume upon interruption of its influence. Even though the absence of a lesion involving the spinal motor neurons or descending motor tracts was a constant in muscular dystrophy, there remained some reluctance to accept myopathy as being independent of the nervous system. According to the maintenance of the contractile response to galvanic current in neuropathy Erb suggested that there was a nerve centre other than that of the anterior cornua of the spinal cord which supplied the trophic influence. When he found histological features which were typical of myopathy in poliomyelitis he was convinced that muscular dystrophy was the result of a trophic disturbance. However, this theory was not sustainable because there was no anatomical evidence for a special trophic centre. In 1970 McComas again proposed that a neurogenic phenomenon was responsible for the pathogenesis of the muscular dystrophies. It was the re-emergence of a neurogenic hypothesis for muscular dystrophy which was the purpose of my exercise. In order to answer the question as to why a trophic theory reappeared I followed the research and theory regarding muscular dystrophy over time. The powerful effect of the somatic innervation upon muscle metabolism as determined by cross innervation experiments during the 1960's, set the stage for the reassertion of a trophic disturbance in muscular dystrophy. In addition, the division between myopathy and neuropathy had become less.distinct by 1970 in terms of histology, serum enzymes and the intramuscular innervation. Histological features considered to by typical of myopathy were seen in the biopsies of Charcot-Marie-Tooth disease and Kugelberg-Welander spinal muscular atrophy. As well, abnormally elevated serum levels of creatine phosphokinase which was characteristic of muscular dystrophy, were measured in these neuropathies. Changes in the intramuscular innervation of myotonic dystrophy and the animal model for muscular dystrophy also brought into question the myopathicity of muscular dystrophy. By 1970 the types of muscular dystrophy had been classified according to clinical and genetic criteria and were thus known to be genetically distinct diseases. A unifying hypothesis is always desireable and therefore, mental deficiency according to clinical assessment in Duchenne and myotonic dystrophy, the latter being an "impure" dystrophy, were considered to be supportive of the neurogenic hypothesis. "Hypertrophic paraplegia of infancy of cerebral origin" was the original title of what became known as Duchenne dystrophy. The frequent occurrence of mental retardation was the foundation of the name but with knowledge concerning the profound influence of the nerve upon the metabolism of the muscle, the alleged cerebral defect in Duchenne dystrophy favoured the neuropathicity of dystrophy even more.
Medicine, Faculty of
Cellular and Physiological Sciences, Department of
Graduate
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5

Clement, E. "Congenital muscular dystrophy in 2010." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1318071/.

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Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of conditions that usually present in the first months of life with weakness and hypotonia. Extramuscular manifestations are common and may include brain, skin and eye abnormalities. CMDs are relatively rare disorders and despite the major progress made over the last 2 decades in identifying, mapping and investigating these conditions, there remains a lot to be learned. Little is known about the relative frequency of the various forms of CMD in the UK population. Experience had shown that founder mutations are common in different ethnic populations and epidemiological studies performed in other countries are of limited value in this regard. Since 2001, the Dubowitz Neuromuscular Centre (DNC) has been the National Commissioning Group UK Centre for CMD. As such we are in the privileged position to have access to a large number of UK patients with CMD. I analysed a cohort of 214 CMD referrals to the DNC between 2001 and 2008 with a view to reporting the diagnostic outcome and the frequency of the various forms of CMD encountered in our patient population. The second part of the thesis is concerned with the dystroglycanopathies, a recently described group of CMDs associated with aberrant glycosylation of alpha dystroglycan. To date, 7 genes have been identified, some of which give rise to multiple dystroglycanopathy phenotypes. I studied the genotype-phenotype relationship in a large group of dystroglycanopathy patients, reporting new clinical phenotypes and establishing the mutation frequency in this group. I also report in detail the spectrum of MRI brain changes seen in 27 dystroglycanopathy patients. In summary, this work reports the diagnostic outcome in the largest cohort of UK CMD cases studied and refines the genotype-phenotype correlation in patients with dystroglycanopathies.
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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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7

Rabinowitz, Adam Howard. "Antisense therapies for Duchenne muscular dystrophy." Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.444590.

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8

Smith, T. J. "Molecular analysis of Duchenne muscular dystrophy." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233559.

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9

Hodgson, Shirley V. "Genetic studies in Duchenne muscular dystrophy." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235878.

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10

Wakefield, Philip M. "Gene therapy for duchenne muscular dystrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365743.

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Книги з теми "Muscular dystrophy"

1

Muscular dystrophy. New York: F. Watts, 1992.

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2

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

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3

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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4

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

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5

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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6

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

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7

Muscular dystrophy. Oxford: Oxford University Press, 1994.

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8

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

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9

Nene College. Nene Centre for Health Care Education. Occupational Therapy Course Team. Muscular Dystrophy. Northampton: Nene College, 1987.

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10

Muscular dystrophy. Detroit: Lucent Books, 2008.

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Частини книг з теми "Muscular dystrophy"

1

Huml, Raymond A. "Introduction to Muscular Dystrophy." In Muscular Dystrophy, 1–3. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_1.

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2

Huml, Raymond A. "Global Regulatory Landscape." In Muscular Dystrophy, 119–29. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_10.

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Huml, Raymond A. "Key Challenges to the Approval of Products to Treat Patients with Muscular Dystrophy." In Muscular Dystrophy, 131–44. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_11.

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Huml, Raymond A. "Pharmaceutical Products and Non-pharmaceutical Interventions as Potential Treatments for Patients with Muscular Dystrophy." In Muscular Dystrophy, 145–56. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_12.

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Huml, Meredith L. "U.S. Patient Advocacy Groups." In Muscular Dystrophy, 157–67. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_13.

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Huml, Raymond A. "Global and National Patient Registries." In Muscular Dystrophy, 169–74. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_14.

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Huml, Raymond A. "Summary." In Muscular Dystrophy, 175–79. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_15.

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Huml, Raymond A. "Muscular Dystrophy: Historical Background and Types." In Muscular Dystrophy, 5–7. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_2.

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Huml, Raymond A., and Daniel P. Perez. "FSHD: The Most Common Type of Muscular Dystrophy?" In Muscular Dystrophy, 9–19. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_3.

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Mah, Jean K. "Duchenne and Becker Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms." In Muscular Dystrophy, 21–35. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_4.

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Тези доповідей конференцій з теми "Muscular dystrophy"

1

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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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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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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Fiorentino, Giuseppe, Anna Annunziata, Maria Antonietta Mazza, Rosa Cauteruccio, Gianfranco Scotto di Frega, and Anna Michela Gaeta. "Mouthpiece ventilation in Duchenne muscular dystrophy." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa2166.

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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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Cavache, Alina, Diana Zaharia, Raluca Ioana Teleanu, Diana Anamaria Epure, Dana Vasile, Magdalena Sandu, Ioana Adriana Ghiorghiu, and Doina Anca Plesca. "P315 Electrocardiographic changes in duchenne muscular dystrophy." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.403.

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Grinio, L. "A new hypothesis of duchenne muscular dystrophy." In Scientific achievements of the third millennium. SPC "LJournal", 2021. http://dx.doi.org/10.18411/scienceconf-03-2021-41.

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9

Dell'Acqua, Guido, and Filippo Castiglione. "A Mathematical Model of Duchenne Muscular Dystrophy." In Selected Contributions from the 9th SIMAI Conference. WORLD SCIENTIFIC, 2009. http://dx.doi.org/10.1142/9789814280303_0028.

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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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Звіти організацій з теми "Muscular dystrophy"

1

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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3

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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4

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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5

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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6

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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7

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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