Articles with "duchenne muscular" as a keyword



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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

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Published in 2022 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2021.44178

Abstract: This nonrandomized controlled trial examines efficacy of vamorolone treatment for Duchenne muscular dystrophy among boys compared with glucocorticoid treatment. read more here.

Keywords: efficacy safety; duchenne muscular; safety vamorolone; muscular dystrophy ... See more keywords
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Alternative utrophin mRNAs contribute to phenotypic differences between dystrophin‐deficient mice and Duchenne muscular dystrophy

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Published in 2018 at "Febs Letters"

DOI: 10.1002/1873-3468.13099

Abstract: Duchenne muscular dystrophy (DMD) is a fatal disorder caused by absence of functional dystrophin protein. Compensation in dystrophin‐deficient (mdx) mice may be achieved by overexpression of its fetal paralogue, utrophin. Strategies to increase utrophin levels… read more here.

Keywords: mice; muscular dystrophy; dystrophin deficient; duchenne muscular ... See more keywords
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Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy

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Published in 2021 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51417

Abstract: To understand the natural disease upper limb progression over 3 years of ambulatory and non‐ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic… read more here.

Keywords: patients duchenne; muscular dystrophy; disease; upper limb ... See more keywords
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The association between cardiac involvement and long‐term clinical outcomes in patients with Duchenne muscular dystrophy

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Published in 2022 at "ESC Heart Failure"

DOI: 10.1002/ehf2.13970

Abstract: Despite advances in contemporary cardiopulmonary therapies, cardiomyopathy remains the leading cause of death in patients with Duchenne muscular dystrophy (DMD). Also, the long‐term clinical outcomes of patients with DMD and cardiomyopathy is unknown. This study… read more here.

Keywords: long term; clinical outcomes; duchenne muscular; patients duchenne ... See more keywords
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A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

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Published in 2018 at "Journal of Clinical Laboratory Analysis"

DOI: 10.1002/jcla.22445

Abstract: To offer 4‐year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD). read more here.

Keywords: prenatal diagnosis; analysis; muscular dystrophy; duchenne muscular ... See more keywords
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Early myopathy in Duchenne muscular dystrophy is associated with elevated mitochondrial H2O2 emission during impaired oxidative phosphorylation

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Published in 2019 at "Journal of Cachexia, Sarcopenia and Muscle"

DOI: 10.1002/jcsm.12405

Abstract: Muscle wasting and weakness in Duchenne muscular dystrophy (DMD) causes severe locomotor limitations and early death due in part to respiratory muscle failure. Given that current clinical practice focuses on treating secondary complications in this… read more here.

Keywords: elevated mitochondrial; muscular dystrophy; mitochondrial h2o2; h2o2 emission ... See more keywords
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Long‐term human IgG treatment improves heart and muscle function in a mouse model of Duchenne muscular dystrophy

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Published in 2020 at "Journal of Cachexia, Sarcopenia and Muscle"

DOI: 10.1002/jcsm.12569

Abstract: Abstract Background Duchenne muscular dystrophy (DMD) is a progressive muscle‐wasting disease caused by mutations in the dystrophin gene, which leads to structural instability of the dystrophin–glycoprotein‐complex with subsequent muscle degeneration. In addition, muscle inflammation has… read more here.

Keywords: igg; muscle; long term; treatment ... See more keywords
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23Na MRI depicts early changes in ion homeostasis in skeletal muscle tissue of patients with duchenne muscular dystrophy

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Published in 2019 at "Journal of Magnetic Resonance Imaging"

DOI: 10.1002/jmri.26681

Abstract: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disease leading to progressive muscle wasting. Since there is a need for MRI variables that serve as early sensitive indicators of response to treatment, several quantitative MRI… read more here.

Keywords: mri depicts; muscle; muscular dystrophy; 23na mri ... See more keywords
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Right Ventricular Function and T1‐Mapping in Boys With Duchenne Muscular Dystrophy

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Published in 2021 at "Journal of Magnetic Resonance Imaging"

DOI: 10.1002/jmri.27729

Abstract: Clinical management of boys with Duchenne muscular dystrophy (DMD) relies on in‐depth understanding of cardiac involvement, but right ventricular (RV) structural and functional remodeling remains understudied. read more here.

Keywords: ventricular function; boys duchenne; muscular dystrophy; right ventricular ... See more keywords
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Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients

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Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.622

Abstract: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X‐linked recessive mode of inheritance. Patients with DMD are usually characterized by… read more here.

Keywords: dmd; muscular dystrophy; dystrophy; application whole ... See more keywords
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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

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Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.862

Abstract: Variable disease phenotypes can be influenced by several factors such as allelic variation, environmental factors, genetic modifiers, and genotype–environment interaction. Herein to the best of our knowledge, this is the first report of the coexistence… read more here.

Keywords: korean family; disease phenotypes; differing disease; disease ... See more keywords