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Bibliografie tematiche / Duchenne muscular dystrophy

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Letteratura scientifica selezionata sul tema "Duchenne muscular dystrophy"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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Articoli di riviste sul tema "Duchenne muscular dystrophy"

1

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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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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2

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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3

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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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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4

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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5

Faqih, M. Izza Zulfana, Wahyu Tri Sudaryanto, and Salma Muazzaroh. "ACTIVE ASSISTED MOVEMENT DALAM MENJAGA KEMAMPUAN FUNGSIONAL PADA KONDISI DUCHENNE MUSCULAR DYSTROPHY." Journal of Innovation Research and Knowledge 3, no. 1 (2023): 5047–52. http://dx.doi.org/10.53625/jirk.v3i1.5990.

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Background: Duchenne muscular dystrophy which is a recessive x-linked disorder that often affects males. Duchenne muscular dystrophy is caused by mutations in the dystrophin gene at the Xp21 locus so that dystrophin protein is not produced or dystrophin deficiency and structural abnormalities occur. Dystrophinopathies are X-linked recessive disorders affecting 1 in 5,000 to 1 in 6,000 live male births. The prevalence of DMD is less than 10 cases per 100,000 males. Objective: Physiotherapy management in this case aims to determine the benefits of providing physiotherapy interventions in the for

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6

Jufan, Akhmad Yun, Djayanti Sari, and Karlina Mahardieni. "DUCHENNE MUSCULER DYSTROPHY." Jurnal Komplikasi Anestesi 3, no. 2 (2023): 47–53. http://dx.doi.org/10.22146/jka.v3i2.7242.

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Abstract (sommario):

Duchenne muscular dystrophy merupakan suatu kelainan otot yang sering ditemui. Penyakit ini terpaut pada kromosom X yang disebabkan oleh mutasi gen dystrophin. Gejalanya berupa kelemahan otot proksimal yang berat, bersifat degenerasi progresif dan infi ltrasi lemak ke otot. Efek duchenne muscular dystrophy terhadap otot respirasi dan berhubungan dengan kardio-miopati yang dapat mengarah ke kematian.Dilaporkan anak laki-laki usia 12 tahun dengan diagnosa duchenne muscular dystrophy dd/ Baker’s muscular dystrophy dilakukan prosedur biopsi. Pasien dinilai sebagai status fi sik ASA 2 yang dilakuka

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7

Danisovic, Lubos, Martina Culenova, and Maria Csobonyeiova. "Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy." Cells 7, no. 12 (2018): 253. http://dx.doi.org/10.3390/cells7120253.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles. Currently, there is no effective therapy for this disorder. However, the technology of cell reprogramming, with subsequent controlled differentiation to skeletal muscle cells or cardiomyocytes, may provide a unique tool for the study, modeling, and treatment of Duchenne muscular dystrophy. In the present review, we describe current methods of induced pluripotent

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8

Assereto, Stefania, Silvia Stringara, Federica Sotgia, et al. "Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment." American Journal of Physiology-Cell Physiology 290, no. 2 (2006): C577—C582. http://dx.doi.org/10.1152/ajpcell.00434.2005.

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In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy. Briefly, freshly isolated skeletal muscle biopsies (termed skeletal muscle explants) from patients with Duchenne or Becker muscular dystrophy were maintained under defined cell culture conditions for a 24-h period in the absence or presence of a specific candidate compound. Using this approach, we have demonstrated that treatment with a well-characterized proteasome inhibitor, MG-132, is sufficient to rescue the exp

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9

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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Abstract (sommario):

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

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10

Park, Eun-Woo, Ye-Jee Shim, Jung-Sook Ha, Jin-Hong Shin, Soyoung Lee, and Jang-Hyuk Cho. "Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report." Children 8, no. 5 (2021): 377. http://dx.doi.org/10.3390/children8050377.

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Abstract (sommario):

Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase

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Tesi sul tema "Duchenne muscular dystrophy"

1

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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4

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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5

Koppaka, Sisir. "Imaging biomarkers for Duchenne muscular dystrophy." Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/106959.

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Thesis: S.M., Massachusetts Institute of Technology, School of Engineering, Center for Computational Engineering, Computation for Design and Optimization Program, 2015.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 75-78).<br>Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood and affects 1 in 3600 male births. The disease is caused by mutations in the dystrophin gene leading to progressive muscle weakness which ultimately results in death due to respiratory and cardiac failure. Accurate, practical, and painless tests to

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6

Tay, Shaun Li Jian. "Duchenne Muscular Dystrophy—Insight and Treatment." Thesis, The University of Arizona, 2015. http://hdl.handle.net/10150/595055.

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Abstract (sommario):

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive degeneration of muscle fibers and dystrophic changes on muscle biopsy¹. DMD accounts for approximately 50% of all dystrophinopathies, with around 21,000 male babies born with the disease each year², ³, ⁴, ⁵. It is also the most lethal X-linked recessive disorder as phenotypic traits are not immediately present at birth¹¹, ³. Patients usually do not live past their 20's without medical intervention to treat associated respiratory and cardiac dysfunctions¹¹, ³. For these reasons DMD remains one of the greatest t

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7

vianello, sara. "Molecular modifiers in Duchenne muscular dystrophy." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426720.

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Abstract (sommario):

Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disease affecting 1:3500 –1/5000 boys at birth. It is caused by the absence of dystrophin, a subsarcolemmal protein that confers membrane stability linking cytoskeletal actin to the extracellular matrix. Dystrophin is part of a multi-protein complex called dystrophin associated protein complex (DAPC), which contains, among the other components, β-dystroglycan and nitric oxide synthase (NOS). The consequences of the absence of dystrophin are: deregulation of calcium homeostasis, tissue necrosis, and progressive accumulat

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8

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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9

Smith, Philip E. M. "Breathing during sleep in Duchenne muscular dystrophy." Thesis, University of Liverpool, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235539.

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10

Babaria, Arati. "Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612573.

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Abstract (sommario):

Duchenne muscular dystrophy is an inherited, X-linked recessive skeletal muscle disorder that is characterized by mutations in the dystrophin gene [1]. Therefore, the disease affects primarily males and women are typically carriers. 1 in 3500 males in the United States are affected [1]. Dystrophin is a critical, large scaffolding protein in the dystrophin-glycoprotein complex found at the sarcolemma of skeletal muscle [1]. The complex helps maintain sarcolemma integrity and stability during muscle contractions by coupling the extracellular matrix proteins to the intracellular cytoskeleton in s

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Libri sul tema "Duchenne muscular dystrophy"

1

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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2

S, Chamberlain Jeffrey, and Rando Thomas A, eds. Duchenne muscular dystrophy: Advances in therapeutics. Taylor & Francis, 2005.

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3

Kate, Stone, ed. Occupational therapy and Duchenne muscular dystrophy. John Wiley & Sons, 2007.

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4

1932-, Kakulas Byron A., Mastaglia Frank L, and Neuromuscular Foundation of Western Australia., eds. Pathogenesis and therapy of Duchenne and Becker muscular dystrophy. Raven Press, 1990.

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1932-, Kakulas Byron A., Howell J. McC, and Roses Allen D, eds. Duchenne muscular dystrophy: Animal models and genetic manipulation. Raven Press, 1992.

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6

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

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

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

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9

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

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10

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

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Capitoli di libri sul tema "Duchenne muscular dystrophy"

1

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

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2

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

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3

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

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4

Dickson, George, and Susan C. Brown. "Duchenne muscular dystrophy." In Molecular and Cell Biology of Human Gene Therapeutics. Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0547-7_14.

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Markert, Chad D., Martin K. Childers, and Robert W. Grange. "Duchenne Muscular Dystrophy." In Encyclopedia of Exercise Medicine in Health and Disease. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-540-29807-6_250.

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Angelini, Corrado. "Duchenne Muscular Dystrophy." In Genetic Neuromuscular Disorders. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_1.

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7

Juan, Angielyn San, and John J. Grayhack. "Duchenne Muscular Dystrophy." In Orthopaedics for the Newborn and Young Child. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-11136-5_35.

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Brown, S. C., and G. Dickson. "Duchenne muscular dystrophy." In From Genetics to Gene Therapy. Garland Science, 2024. http://dx.doi.org/10.1201/9781003580096-4.

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Cantor, Richard M., Charles V. Pollack, and Victoria G. Riese. "Duchenne Muscular Dystrophy." In Differential Diagnosis of Cardiopulmonary Disease. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-63895-9_25.

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Dillane, Derek. "Duchenne Muscular Dystrophy." In Preoperative Assessment. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-58842-7_31.

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Atti di convegni sul tema "Duchenne 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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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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2

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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3

Cavache, Alina, Diana Zaharia, Raluca Ioana Teleanu, et al. "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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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 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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Abstract (sommario):

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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Molloy, Helen, Victoria Beesley, Dipansu Ghosh, and Mark Elliot. "NIV in Duchenne Muscular Dystrophy : A qualitative study." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa1890.

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Gushue, C. A., and R. Shell. "Effectiveness of Airway Clearance in Duchenne Muscular Dystrophy." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a3679.

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Koppaka, Sisir, Matthew W. Gilbertson, Jim S. Wu, Seward B. Rutkove, and Brian W. Anthony. "Assessing duchenne muscular dystrophy with force-controlled ultrasound." In 2014 IEEE 11th International Symposium on Biomedical Imaging (ISBI 2014). IEEE, 2014. http://dx.doi.org/10.1109/isbi.2014.6867965.

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"Mutations in Duchenne and Becker Muscular Dystrophy Patients." In AEBMS-2017, ICCET-2017, BBMPS-17, UPACEE-17, LHESS-17, TBFIS-2017, IC4E-2017, AMLIS-2017 & BEFM-2017. Higher Education and Innovation Group (HEAIG), 2018. http://dx.doi.org/10.15242/heaig.c1217230.

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Rapporti di organizzazioni sul tema "Duchenne muscular dystrophy"

1

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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3

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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