Results 41 to 50 of about 2,668 (97)

Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy

Pediatric Neurology Briefs, 2007
The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and
J Gordon Millichap
doaj   +1 more source

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

PLoS ONE, 2016
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley   +6 more
doaj   +1 more source

Duchenne Muscular Dystrophy

Pediatric Neurology Briefs, 1989
The clinical progression and effects of therapy in 283 boys with Duchenne dystrophy and ten with Becker dystrophy followed for up to ten years in a collaborative study are reported from the Departments of Neurology and Biostatistics, Washington ...
J Gordon Millichap
doaj   +1 more source

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Skeletal Muscle, 2017
Background Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix ...
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson   +9 more
doaj   +1 more source

Survival in Duchenne muscular dystrophy.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2012
To determine the survival in a population of German patients with Duchenne muscular dystrophy.Information about 94 patients born between 1970 and 1980 was obtained by telephone interviews and questionnaires. In addition to age of death or actual age during the investigation, data concerning clinical course and medical interventions were collected.67 ...
Rall, Susanne, Grimm, Tiemo
openaire   +2 more sources

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Orphanet Journal of Rare Diseases, 2017
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis ...
Cara A. Timpani, Alan Hayes, Emma Rybalka   +2 more
doaj   +1 more source

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP^® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

International Journal of Neonatal Screening, 2019
Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the
Anne Timonen, Michele Lloyd-Puryear, David M. Hougaard, Liisa Meriö, Pauliina Mäkinen, Ville Laitala, Tuukka Pölönen, Kristin Skogstrand, Annie Kennedy, Sari Airenne, Hanna Polari, Teemu Korpimäki   +11 more
doaj   +1 more source

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

Российский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva, O. V. Babicheva, K. O. Barbuhatti   +2 more
doaj   +1 more source

Duchenne muscular dystrophy - disease characterization and emergent genetic therapy - literature review

Quality in Sport
Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and ...
Anna Teresa Michalska, Michał Świda, Cezary Kubuj, Grzegorz Adaśko, Urszula Mazur, Jakub Bazarewicz, Marcin Siwik, Daniel Dmowski, Paulina Ogonowska, Julia Waszak   +9 more
doaj   +1 more source