Results 11 to 20 of about 27,913 (221)

Basal Energetics and Phosphocreatine Recovery Kinetics in Ambulatory Boys With Duchenne Muscular Dystrophy. [PDF]

NMR Biomed
Basal energetics and phosphocreatine (PCr) recovery kinetics of the lower leg anterior compartment (primarily tibialis anterior; TA) were evaluated at rest and after dorsiflexion muscle contractions in ambulatory boys with Duchenne muscular dystrophy (DMD) and unaffected controls using 31P‐MRS.
Awale PP, Lopez C, Taivassalo T, Vandenborne K, Walter GA, Forbes SC.   +5 more
europepmc   +2 more sources

Theragnosis for Duchenne Muscular Dystrophy [PDF]

Frontiers in Pharmacology, 2021
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the ...
Leonela Luce, Leonela Luce, Micaela Carcione, Micaela Carcione, Chiara Mazzanti, Chiara Mazzanti, Paula I. Buonfiglio, Viviana Dalamón, Lilia Mesa, Alberto Dubrovsky, José Corderí, Florencia Giliberto, Florencia Giliberto   +12 more
openaire   +4 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

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

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

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

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy [PDF]

Korean Journal of Pediatrics, 2018
PurposeCardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications.
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang   +3 more
doaj   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source