Results 1 to 10 of about 66,813 (317)

Duchenne muscular dystrophy [PDF]

Nature Reviews Disease Primers, 2021
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda, Eugenio Mercuri, Annemieke Aartsma-Rus   +4 more
semanticscholar   +7 more sources

Caregivers and multidisciplinary team members’ perspectives on shared decision making in Duchenne muscular dystrophy: A qualitative study [PDF]

Orphanet Journal of Rare Diseases
Background As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important.
Elise Schoefs, Thomas Desmet, Evelyn Lerinckx, Liesbeth De Waele, Sam Geuens, Conny Pelicaen, Luc Meeus, Steven Simoens, Chantal Van Audenhove, Mieke Mommen, Rosanne Janssens, Isabelle Huys   +11 more
doaj   +2 more sources

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD [PDF]

Frontiers in Pediatrics
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the ...
Pien M. M. Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Philippe Collin, Philippe Collin, Sylvia Klinkenberg, Sylvia Klinkenberg, Sylvia Klinkenberg, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen   +11 more
doaj   +2 more sources

Duchenne Muscular Dystrophy [PDF]

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 University School of Medicine, St. Louis, MO, the Departments of Neurology, Vanderbilt University, Nashville,
J Z Heckmatt
openalex   +4 more sources

The achievement of Duchenne. [PDF]

Proceedings of the Royal Society of Medicine, 1973
E. D. R. Campbell
openalex   +4 more sources

Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

Frontiers in Pharmacology, 2022
Digital health technologies are transforming the way health outcomes are captured and measured. Digital biomarkers may provide more objective measurements than traditional approaches as they encompass continuous and longitudinal data collection and use ...
Elisa Ferrer-Mallol, Clare Matthews, Madeline Stoodley, Alessandra Gaeta, Elinor George, Emily Reuben, Alex Johnson, Elin Haf Davies   +7 more
doaj   +1 more source

Tromboembolismo pulmonar em criança com Distrofia Muscular de Duchenne: relato de caso

Residência Pediátrica, 2023
OBJECTIVES: To describe a clinical case of pulmonary thromboembolism (PE) in a child with Duchenne muscular dystrophy. METHODS: A detailed description of the clinical picture and a review of the patients medical record were carried out, in addition to a
Daniel Raylander da Silva Rodrigues, Paulo Sucasas Costa, Patrícia Marques Fortes, Dégila da Costa Cruz, Flávia Medeiros Fonseca, Deborah Cristina Fogaça   +5 more
doaj   +1 more source

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli   +12 more
doaj   +1 more source

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractDuchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD.
Niki Armstrong, Rachel Schrader, Ryan Fischer, Norah Crossnohere   +3 more
openaire   +2 more sources

Protective role of γ ⁃ tocotrienol on muscle satellite cells of Duchenne muscular dystrophy in mice

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To investigate the damage of skeletal muscle satellite cells in Duchenne muscular dystrophy (DMD) and the protective effect of γ⁃tocotrienol (GT3) on muscle satellite cells in DMD knockout mice.
YANG Shuo , ZHAO Hui⁃wen, YANG Juan, ZENG Hui⁃hong, KUANG Bo⁃hai, SHAO Li⁃jian   +5 more
doaj   +1 more source