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Journal articles on the topic 'Duchenne muscular dystrophy'

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Published: 4 June 2021
Last updated: 9 November 2024

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1

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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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 (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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3

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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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 (March 9, 2024): 105–16. http://dx.doi.org/10.52403/ijhsr.20240318.

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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 negative consequences.In the realm of Ayurveda, Duchenne muscular dystrophy falls under the classification of Medomamsa dushti, attributed to Vata doshas and stemming from Bheejabagahaavyava dushti. Ayurvedic strategies for management emphasize the promotion of regeneration in neuromuscular illnesses, employing a combination of Ayurvedic oral drugs and Panchakarma therapies. Key words: DMD, Dystrophin, Muscular Dystrophy, Medovaha Srotodushti
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5

Jufan, Akhmad Yun, Djayanti Sari, and Karlina Mahardieni. "DUCHENNE MUSCULER DYSTROPHY." Jurnal Komplikasi Anestesi 3, no. 2 (May 27, 2023): 47–53. http://dx.doi.org/10.22146/jka.v3i2.7242.

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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 dilakukan general anesthesia dengan teknik TIVA. Setelah persiapan preoperasi, pasien diberikan ko induksi dengan midazolam 1,5mg, induksi dengan ketamine 20mg. Pemeliharaan anestesi dengan O2 melalui nasal kanul. Hemodinamik durante operasi stabil dengan jalan nafas terjaga dengan kepala ekstensi. Operasiberlangsung selama 20menit. Perdarahan minimal dan urine output 25cc. Kondisi pasien setelah operasi stabil dan kembali ke bangsal.
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6

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 (July 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 form of active assisted and passive movement and stretching in patients with Duchenne muscular dystrophy. Methods: This case report was conducted at PLDPI Surakarta by taking patients with Duchenne muscular dystrophy cases by providing physiotherapy modalities in the form of active assisted and passive movement and stretching for 3 physiotherapy sessions. Furthermore, measurements were taken with the GMFM and XOTR Scale in the first to third physiotherapy. Results: From the physiotherapy management given, it was found that functional ability and muscle strength remained unchanged and did not develop. Conclusion: Physiotherapy management in this case report is proven to be able to maintain functional ability and muscle strength in patients with Duchenne muscular dystrophy.
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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 (December 7, 2018): 253. http://dx.doi.org/10.3390/cells7120253.

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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles. Currently, there is no effective therapy for this disorder. However, the technology of cell reprogramming, with subsequent controlled differentiation to skeletal muscle cells or cardiomyocytes, may provide a unique tool for the study, modeling, and treatment of Duchenne muscular dystrophy. In the present review, we describe current methods of induced pluripotent stem cell generation and discuss their implications for the study, modeling, and development of cell-based therapies for Duchenne muscular dystrophy.
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8

Assereto, Stefania, Silvia Stringara, Federica Sotgia, Gloria Bonuccelli, Aldobrando Broccolini, Marina Pedemonte, Monica Traverso, 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 (February 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 expression of dystrophin, β-dystroglycan, and α-sarcoglycan in skeletal muscle explants from patients with Duchenne or Becker muscular dystrophy. These data are consistent with our previous findings regarding systemic treatment with MG-132 in a dystrophin-deficient mdx mouse model (Bonuccelli G, Sotgia F, Schubert W, Park D, Frank PG, Woodman SE, Insabato L, Cammer M, Minetti C, and Lisanti MP. Am J Pathol 163: 1663–1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans.
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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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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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10

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

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Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy and is caused by mutations in the dystrophin gene. Dystrophin, together with several other protein components, is part of a complex known as the dystrophin glycoprotein complex (DGC). The DGC plays an essential role in maintaining the structural integrity of the muscle cell membrane by providing a link between the extracellular matrix and the cytoskeleton
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11

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 (May 11, 2021): 377. http://dx.doi.org/10.3390/children8050377.

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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 is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.
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12

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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13

Soim, Aida, Bailey Wallace, Nedra Whitehead, Michael G. Smith, Joshua R. Mann, Shiny Thomas, and Emma Ciafaloni. "Health Profile of Preterm Males With Duchenne Muscular Dystrophy." Journal of Child Neurology 36, no. 12 (October 2021): 1095–102. http://dx.doi.org/10.1177/08830738211047019.

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In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and corticosteroids use in males with Duchenne muscular dystrophy identified through a population-based surveillance system were analyzed using Kaplan-Meier survival curves and Cox proportional hazards modeling. The adjusted risk of receiving any respiratory intervention among preterm males with Duchenne muscular dystrophy was 87% higher than among the corresponding full-term males with Duchenne muscular dystrophy. The adjusted risks for ambulation cessation and left ventricular dysfunction were modestly elevated among preterm compared to full-term males, but the 95% confidence intervals contained the null. No difference in the start of corticosteroid use between preterm and full-term Duchenne muscular dystrophy males was observed. Overall, the disease course seems to be similar between preterm and full-term males with Duchenne muscular dystrophy; however, pulmonary function seems to be affected earlier among preterm males with Duchenne muscular dystrophy.
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14

Li, Xing-Chuan, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, and Ni Zhang. "A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene." SAGE Open Medical Case Reports 10 (January 2022): 2050313X2211008. http://dx.doi.org/10.1177/2050313x221100881.

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Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in our patient’s muscle cell membranes. We discovered a novel nonsense mutation in DMD that will expand the pathogenic mutation spectrum for Duchenne muscular dystrophy.
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15

Heutinck, Lotte, Nadine van Kampen, Merel Jansen, and Imelda J. M. de Groot. "Physical Activity in Boys With Duchenne Muscular Dystrophy Is Lower and Less Demanding Compared to Healthy Boys." Journal of Child Neurology 32, no. 5 (January 23, 2017): 450–57. http://dx.doi.org/10.1177/0883073816685506.

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This study describes the amount of physical activity and perception of physical activity in boys with Duchenne muscular dystrophy (DMD) compared to healthy boys. A questionnaire described 6 domains of physical activity. Four Duchenne muscular dystrophy subgroups were made: early and late ambulatory, nonambulatory with relative good, or limited arm function. Eighty-four boys with Duchenne muscular dystrophy (15.0 ± 6.4 years) and 198 healthy boys (14.0 ± 4.3 years) participated. Daily activities were more passive for boys with Duchenne muscular dystrophy. Physical activity was less and low demanding compared to healthy boys. It decreased with disease severity ( P < .05), whereas screen time increased ( P < .05). Benefits of physical activity in boys with Duchenne muscular dystrophy were having fun and making friends. Barriers were lack of sport facilities and insufficient health. This study helps to quantify poor engagement in physical activity by boys with Duchenne muscular dystrophy, and demonstrates factors that contribute to it. Suggestions to stimulate physical activity are made.
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16

Biggar, W. D. "Duchenne Muscular Dystrophy." Pediatrics in Review 27, no. 3 (March 1, 2006): 83–88. http://dx.doi.org/10.1542/pir.27-3-83.

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17

Juříková, Lenka, Zdeňka Bálintová, and Jana Haberlová. "Duchenne muscular dystrophy." Neurologie pro praxi 20, no. 3 (June 12, 2019): 180–82. http://dx.doi.org/10.36290/neu.2019.111.

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18

Kornberg, AndrewJ, and EppieM Yiu. "Duchenne muscular dystrophy." Neurology India 56, no. 3 (2008): 236. http://dx.doi.org/10.4103/0028-3886.43441.

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19

Sussman, Michael. "Duchenne Muscular Dystrophy." Journal of the American Academy of Orthopaedic Surgeons 10, no. 2 (March 2002): 138–51. http://dx.doi.org/10.5435/00124635-200203000-00009.

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20

Millichap, J. Gordon. "Duchenne Muscular Dystrophy." Pediatric Neurology Briefs 3, no. 5 (May 1, 1989): 40. http://dx.doi.org/10.15844/pedneurbriefs-3-5-11.

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21

Biggar, W. Douglas. "Duchenne Muscular Dystrophy." Pediatrics In Review 27, no. 3 (March 1, 2006): 83–88. http://dx.doi.org/10.1542/pir.27.3.83.

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22

Bushby, K. "Duchenne Muscular Dystrophy." Journal of Medical Genetics 31, no. 6 (June 1, 1994): 506. http://dx.doi.org/10.1136/jmg.31.6.506.

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23

Bundey, S. "Duchenne Muscular Dystrophy." Journal of Medical Genetics 25, no. 2 (February 1, 1988): 140. http://dx.doi.org/10.1136/jmg.25.2.140.

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Bundey, S. "Duchenne Muscular Dystrophy." Journal of Medical Genetics 26, no. 6 (June 1, 1989): 416. http://dx.doi.org/10.1136/jmg.26.6.416.

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25

Heckmatt, J. Z. "Duchenne Muscular Dystrophy." Archives of Disease in Childhood 64, no. 5 (May 1, 1989): 767. http://dx.doi.org/10.1136/adc.64.5.767.

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26

McDonald, Craig M., Richard T. Abresch, Gregory T. Carter, William M. Fowler, E. Ralph Johnson, David D. Kilmer, and Barbara J. Sigford. "Duchenne Muscular Dystrophy." American Journal of Physical Medicine & Rehabilitation 74, Supplement 1 (September 1995): S70—S92. http://dx.doi.org/10.1097/00002060-199509001-00003.

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27

Gomez-Merino, Elia, and John R. Bach. "Duchenne Muscular Dystrophy." American Journal of Physical Medicine & Rehabilitation 81, no. 6 (June 2002): 411–15. http://dx.doi.org/10.1097/00002060-200206000-00003.

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28

Harper, P. "Duchenne Muscular Dystrophy." Journal of Neurology, Neurosurgery & Psychiatry 50, no. 9 (September 1, 1987): 1249. http://dx.doi.org/10.1136/jnnp.50.9.1249.

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29

Scott, Oona M. "Duchenne Muscular Dystrophy." Physiotherapy 76, no. 3 (March 1990): 138. http://dx.doi.org/10.1016/s0031-9406(10)62140-2.

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30

Villanova, Marcello, Beatrice Brancalion, and Anokhi D. Mehta. "Duchenne Muscular Dystrophy." American Journal of Physical Medicine & Rehabilitation 93, no. 7 (July 2014): 595–99. http://dx.doi.org/10.1097/phm.0000000000000074.

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31

Shieh, Perry B. "Duchenne muscular dystrophy." Current Opinion in Neurology 28, no. 5 (October 2015): 542–46. http://dx.doi.org/10.1097/wco.0000000000000243.

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32

Roper, Helen P. "Duchenne muscular dystrophy." Neuromuscular Disorders 14, no. 5 (May 2004): 346–47. http://dx.doi.org/10.1016/j.nmd.2004.02.001.

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33

Davies, Kay E. "Duchenne muscular dystrophy." Trends in Genetics 3 (January 1987): 231–32. http://dx.doi.org/10.1016/0168-9525(87)90244-7.

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34

Topaloglu, Haluk. "Duchenne Muscular Dystrophy." European Journal of Paediatric Neurology 8, no. 5 (September 2004): 269. http://dx.doi.org/10.1016/j.ejpn.2004.05.004.

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35

Bolhuis, P. A. "Duchenne muscular dystrophy." Journal of the Neurological Sciences 80, no. 1 (August 1987): 118–19. http://dx.doi.org/10.1016/0022-510x(87)90230-9.

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36

Bolhuis, P. A. "Duchenne muscular dystrophy." Journal of the Neurological Sciences 90, no. 3 (May 1989): 348. http://dx.doi.org/10.1016/0022-510x(89)90125-1.

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37

Samson, Kurt. "DUCHENNE MUSCULAR DYSTROPHY." Neurology Today 3, no. 9 (September 2003): 1. http://dx.doi.org/10.1097/00132985-200309000-00001.

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38

Casademont, Jordi. "Duchenne Muscular Dystrophy." Clinical Neurophysiology 115, no. 10 (October 2004): 2426. http://dx.doi.org/10.1016/j.clinph.2004.05.006.

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39

Bach, John R., Daniel Martinez, and Bilal Saulat. "Duchenne Muscular Dystrophy." American Journal of Physical Medicine & Rehabilitation 89, no. 8 (August 2010): 620–24. http://dx.doi.org/10.1097/phm.0b013e3181e72207.

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40

Spies, S., K. Schipper, F. Nollet, and T. A. Abma. "Duchenne muscular dystrophy." BMJ 341, sep07 1 (September 7, 2010): c4364. http://dx.doi.org/10.1136/bmj.c4364.

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41

Behera, V., M. K. Behera, R. Chauhan, and V. Nair. "Duchenne muscular dystrophy." Case Reports 2014, jun10 1 (June 10, 2014): bcr2014205296. http://dx.doi.org/10.1136/bcr-2014-205296.

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42

ISHIKAWA, Y., J. R. BACH;, and A. K. SIMONDS. "Duchenne muscular dystrophy." Thorax 54, no. 6 (June 1, 1999): 562. http://dx.doi.org/10.1136/thx.54.6.562c.

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43

Yiu, Eppie M., and Andrew J. Kornberg. "Duchenne muscular dystrophy." Journal of Paediatrics and Child Health 51, no. 8 (March 9, 2015): 759–64. http://dx.doi.org/10.1111/jpc.12868.

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44

Chamberlain, Jeffrey S. "Duchenne muscular dystrophy." Current Opinion in Genetics & Development 1, no. 1 (June 1991): 11–14. http://dx.doi.org/10.1016/0959-437x(91)80033-i.

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45

Iannaccone, Susan T., and Zohair Nanjiani. "Duchenne muscular dystrophy." Current Treatment Options in Neurology 3, no. 2 (March 2001): 105–17. http://dx.doi.org/10.1007/s11940-001-0045-2.

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46

Lankester, Benedict J. A., Michael R. Whitehouse, and Martin F. Gargan. "Duchenne muscular dystrophy." Current Orthopaedics 21, no. 4 (August 2007): 298–300. http://dx.doi.org/10.1016/j.cuor.2007.07.001.

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47

Rifai, Z. "Duchenne Muscular Dystrophy." Archives of Neurology 51, no. 9 (September 1, 1994): 846. http://dx.doi.org/10.1001/archneur.1994.00540210016003.

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48

Hyser, C. "Duchenne Muscular Dystrophy." Archives of Neurology 45, no. 4 (April 1, 1988): 369. http://dx.doi.org/10.1001/archneur.1988.00520280011003.

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49

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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Abstract:
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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50

Niranjan, Nandita, Satvik Mareedu, Yimin Tian, Kasun Kodippili, Nadezhda Fefelova, Antanina Voit, Lai-Hua Xie, Dongsheng Duan, and Gopal J. Babu. "Sarcolipin overexpression impairs myogenic differentiation in Duchenne muscular dystrophy." American Journal of Physiology-Cell Physiology 317, no. 4 (October 1, 2019): C813—C824. http://dx.doi.org/10.1152/ajpcell.00146.2019.

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Abstract:
Reduction in the expression of sarcolipin (SLN), an inhibitor of sarco(endo)plasmic reticulum (SR) Ca2+-ATPase (SERCA), ameliorates severe muscular dystrophy in mice. However, the mechanism by which SLN inhibition improves muscle structure remains unclear. Here, we describe the previously unknown function of SLN in muscle differentiation in Duchenne muscular dystrophy (DMD). Overexpression of SLN in C2C12 resulted in decreased SERCA pump activity, reduced SR Ca2+ load, and increased intracellular Ca2+ ([Formula: see text]) concentration. In addition, SLN overexpression resulted in altered expression of myogenic markers and poor myogenic differentiation. In dystrophin-deficient dog myoblasts and myotubes, SLN expression was significantly high and associated with defective [Formula: see text] cycling. The dystrophic dog myotubes were less branched and associated with decreased autophagy and increased expression of mitochondrial fusion and fission proteins. Reduction in SLN expression restored these changes and enhanced dystrophic dog myoblast fusion during differentiation. In summary, our data suggest that SLN upregulation is an intrinsic secondary change in dystrophin-deficient myoblasts and could account for the [Formula: see text] mishandling, which subsequently contributes to poor myogenic differentiation. Accordingly, reducing SLN expression can improve the [Formula: see text] cycling and differentiation of dystrophic myoblasts. These findings provide cellular-level supports for targeting SLN expression as a therapeutic strategy for DMD.
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