Results 31 to 40 of about 235,784 (190)

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

open access: yesSAGE 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   +4 more
doaj   +1 more source

Duchenne muscular dystrophy: Symptoms, management and prognosis [PDF]

open access: yes, 2015
Samuel Alexandre Almeida Honório (Editor).A child with Duchenne Muscular Dystrophy (DMD) faces a childhood and adolescence with a disability that develops gradually. This book intends to expose the problems of children with DMD.
Honório, Samuel
core   +3 more sources

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

open access: yesJournal 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   +7 more
doaj   +1 more source

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

open access: yesPLoS 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   +16 more
doaj   +1 more source

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

open access: yesJournal 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   +6 more
doaj   +1 more source

Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype [PDF]

open access: yes, 2008
Includes bibliographical references (leaves 76-82).The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-
Donald, Kirsten Ann Mary
core   +1 more source

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

open access: yesKorean 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   +3 more
doaj   +1 more source

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

open access: yes, 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   +13 more
core   +1 more source

Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies [PDF]

open access: yes, 2010
Includes bibliographical references (leaves 97-115).Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date.
Esterhuizen, Alina
core   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

open access: yesBiomolecules, 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   +2 more
doaj   +1 more source

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