Letteratura scientifica selezionata sul tema "Muscular dystrophy"

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Articoli di riviste sul tema "Muscular 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 (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.
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Ibrahim Sory, P., T. Sidi, L. Guida, et al. "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 (2024): 18–23. http://dx.doi.org/10.62455/raf.v6i2.53.

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Abstract (sommario):
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 201
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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 (2009): 146–52. http://dx.doi.org/10.1091/mbc.e08-08-0811.

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Abstract (sommario):
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 ca
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Spiro, Alfred J. "Muscular Dystrophy." Pediatrics In Review 16, no. 11 (1995): 437. http://dx.doi.org/10.1542/pir.16.11.437.

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Abstract (sommario):
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 diagnos
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Sitzia, Clementina, Andrea Farini, Federica Colleoni, 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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Abstract (sommario):
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
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Teramoto, Naomi, Hidetoshi Sugihara, Keitaro Yamanouchi, 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 (2020): dmm044701. http://dx.doi.org/10.1242/dmm.044701.

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Abstract (sommario):
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 nove
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Bergman, Robert L., Karen D. Inzana, William E. Monroe, et al. "Dystrophin-Deficient Muscular Dystrophy in a Labrador Retriever." Journal of the American Animal Hospital Association 38, no. 3 (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, an
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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 (2014): 130–35. http://dx.doi.org/10.5326/jaaha-ms-5973.

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Abstract (sommario):
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 inc
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Baraibar-Churio, Arantxa, Míriam Bobadilla, Florencio J. D. Machado, et al. "Deficiency of MMP-10 Aggravates the Diseased Phenotype of Aged Dystrophic Mice." Life 11, no. 12 (2021): 1398. http://dx.doi.org/10.3390/life11121398.

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Abstract (sommario):
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 tissu
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Dosani, Minaj, and Harish Kumar Singhal. "An Ayurvedic Approach in Muscular Dystrophy in Children." International Journal of Health Sciences and Research 14, no. 3 (2024): 105–16. http://dx.doi.org/10.52403/ijhsr.20240318.

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Abstract (sommario):
Duchenne muscular dystrophy stands out as the most prevalent and severe form of childhood muscular dystrophy, impacting approximately one in every 5200 male births. It results from dystrophin deficiency, a condition inherited through X-linked recessive traits due to a missing or altered dystrophin protein encoded by the DMD gene located on chromosome Xp21. Unfortunately, this myopathy is currently incurable, often leading to mortality between the ages of 20-25. The primary pharmaceutical intervention for Duchenne muscular dystrophy involves corticosteroids, though they come with long-term nega
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Tesi sul tema "Muscular 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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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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Holst, Holst. "The history of muscular dystrophy." Thesis, University of British Columbia, 1989. http://hdl.handle.net/2429/27477.

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

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

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

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

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Libri sul tema "Muscular dystrophy"

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

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

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

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Huml, Raymond A., ed. Muscular Dystrophy. 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. Enslow Publishers, 2000.

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Johanson, Paula. Muscular dystrophy. Rosen Pub. Group, 2008.

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

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Burnett, Gail Lemley. Muscular dystrophy. Crestwood House, 1996.

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

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

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Capitoli di libri sul tema "Muscular dystrophy"

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

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Huml, Raymond A. "Global Regulatory Landscape." In Muscular Dystrophy. 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. 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. 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. 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. 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. 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. 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. 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. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17362-7_4.

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Atti di convegni sul tema "Muscular dystrophy"

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Suzuki, Shunsuke, and Jing Lei. "Gait Analysis from Pressure Distributions for Patients with Becker Muscular Dystrophy." In 2024 12th European Workshop on Visual Information Processing (EUVIP). IEEE, 2024. https://doi.org/10.1109/euvip61797.2024.10772874.

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Khamparia, Aditya, and Chandan Singh. "VAENMD: Deep learning driven feature extractor for diagnosis of Facioscapulohumeral Muscular Dystrophy." In 2025 International Conference on Emerging Systems and Intelligent Computing (ESIC). IEEE, 2025. https://doi.org/10.1109/esic64052.2025.10962768.

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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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Abstract (sommario):
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 d
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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. 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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Abstract (sommario):
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
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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
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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, et al. "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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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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Abstract (sommario):
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 fi
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Rapporti di organizzazioni sul tema "Muscular dystrophy"

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

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Cox, Gregory A. Translational Research for Muscular Dystrophy. Defense Technical Information Center, 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. Defense Technical Information Center, 2009. http://dx.doi.org/10.21236/ada536121.

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Muzafirovic, Armin. Muscular Dystrophy: Lifestyle Strategies to Improve Quality of Life. Iowa State University, 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. Defense Technical Information Center, 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. Defense Technical Information Center, 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, 2022. http://dx.doi.org/10.21007/chp.mot2.2022.0020.

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Kumar, Manish, and Shilpa Singh. Antisense Oligonucleotides for Duchenne Muscular Dystrophy: Rapid Systematic Review of Phase 3 Trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2024. http://dx.doi.org/10.37766/inplasy2024.7.0031.

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

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C. Uy, Genevieve, Raymond L. Rosales, and Satish Khadilkar. Myopathies in Clinical Care: A Focus on Treatable Causes. Progress in Neurobiology, 2024. http://dx.doi.org/10.60124/j.pneuro.2024.10.01.

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Abstract (sommario):
Myopathies present a wide range of clinical symptoms that affect the skeletal muscles, including weakness, fatigue, and pain. While acquired myopathies receive significant attention due to the availability of treatment options, it is important to note that some inherited myopathies can also be effectively managed. These myopathies can be classified based on their underlying causes, such as infectious agents, autoimmune disorders leading to muscle inflammation, granulomatous inflammation, metabolic abnormalities within the muscle cells, skeletal muscle channel dysfunctions, prolonged ICU stay,
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