Results 11 to 20 of about 39,875 (271)

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

Therapeutics and Clinical Risk Management, 2017
David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery ...
Feder D, Koch ME, Palmieri B, Fonseca FLA, Carvalho AAS   +4 more
doaj   +1 more source

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

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +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

PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]

, 2007
The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C., Kobayashi, Y M, Chin, S, Kobayashi, Y. M., Seale, P., Seale, P, Spiegelman, B. M., Handschin, C, Campbell, K. P., Campbell, K P, Spiegelman, B M, Chin, S.   +11 more
core   +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

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source