Results 11 to 20 of about 39,769 (244)

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Przymuszała M, Białobrzeska M, Dulak J, Florczyk-Soluch U.   +3 more
europepmc   +2 more sources

Quantitative MRI Findings and Their Relationship to Muscle Histopathology and Ambulatory Clinical Function in Duchenne Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Lu Y, Yin L, Liu C, Yuan Q, Xie Z, Liao J, Chen S, Gang Q, Zhao Y, Meng L, Zhang W, Xiao J, Wang Z, Yuan Y, Xie Z.   +14 more
europepmc   +2 more sources

Duchenne muscular dystrophy [PDF]

BMJ Case Reports, 2014
A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Vineet, Behera, Manas Kumar, Behera, Rajeev, Chauhan, Velu, Nair   +3 more
openaire   +2 more sources

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Obestatin Treatment Counteracts Muscle Wasting by Reactivation of Autophagy in Duchenne Muscular Dystrophy. [PDF]

MedComm (2020)
Obestatin signaling reactivates autophagy by NEDD4‐L activation under DMD conditions. Tyrosine switch on NEDD4‐L activates autoubiquitination that serves as a scaffold to recruit USP10 to form a deubiquitination complex, which stabilizes VPS34 to promote autophagy by activation of the Beclin1 complex. In parallel, NEDD4‐L favors AMPK exposure to CaMKKß
Santos-Zas I, Costas-Abalde S, Lodeiro AC, Fernández-Barreiro F, Cid-Díaz T, Leal-López S, González-Sánchez J, García-Lamela M, Debasa-Corral L, Mosteiro CS, Mamchaoui K, Mouly V, Casabiell X, Gallego R, Relova JL, Pazos Y, Camiña JP.   +16 more
europepmc   +2 more sources

Tadalafil Treatment Delays the Onset of Cardiomyopathy in Dystrophin‐Deficient Hearts

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundCardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has ...
David W. Hammers, Margaret M. Sleeper, Sean C. Forbes, Ai Shima, Glenn A. Walter, H. Lee Sweeney   +5 more
doaj   +1 more source

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

Journal of Rehabilitation Medicine, 2022
Objective: To evaluate the effects and safety of exercise training, and to determine the most effective exercise intervention for people with Duchenne muscular dystrophy.
Stian Hammer, Michel Toussaint, Maria Vollsæter, Marianne Nesbjørg Tvedt, Ola Drange Røksund, Gregory Reychler, Hans Lund, Tiina Andersen   +7 more
doaj   +1 more source

Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy–Associated Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2015
Background Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin‐associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Michelle S. Parvatiyar, Jamie L. Marshall, Reginald T. Nguyen, Maria C. Jordan, Vanitra A. Richardson, Kenneth P. Roos, Rachelle H. Crosbie‐Watson   +6 more
doaj   +1 more source

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? [PDF]

PLoS ONE, 2018
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children.
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri   +16 more
doaj   +1 more source