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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 ...
J Gordon Millichap
doaj   +4 more sources

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report [PDF]

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
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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
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Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in Genetics, 2023
Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez, Shirley Nieves-Rodriguez, Florian Barthélémy, Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Emilie D. Douine, Richard T. Wang, Richard T. Wang, Deirdre D. Scripture-Adams, Deirdre D. Scripture-Adams, Kevin N. Chesmore, Kevin N. Chesmore, Francesca Galasso, M. Carrie Miceli, M. Carrie Miceli, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson   +19 more
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Duchenne muscular dystrophy [PDF]

BMJ Case Reports, 2014
A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Rajeev Chauhan, Velu Nair, Vineet Behera, Manas Kumar Behera   +3 more
openaire   +5 more sources

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
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Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop, Mika T. Westerhausen, Florian Barthelemy, Thomas Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Miceli, Philip A. Doble, Jonathan Wanagat   +10 more
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Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Children, 2021
Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed ...
Eun-Woo Park, Ye-Jee Shim, Jung-Sook Ha, Jin-Hong Shin, Soyoung Lee, Jang-Hyuk Cho   +5 more
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Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers

The Egyptian Heart Journal, 2021
Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality.
Mahmoud Shehta, Mona Mostafa Rayan, Nagia Aly Fahmy, Ahmed Onsy, Islam Bastawy   +4 more
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Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels

Frontiers in Cell and Developmental Biology, 2022
In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy, Florian Barthélémy, Jeffrey W. Santoso, Laura Rabichow, Laura Rabichow, Rongcheng Jin, Isaiah Little, Isaiah Little, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Megan L. McCain, Megan L. McCain, M. Carrie Miceli, M. Carrie Miceli   +14 more
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