Results 11 to 20 of about 52,464 (357)
The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
openaire +6 more sources
Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations [PDF]
International Journal of Endocrinology, 2012 Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán +2 more
doaj +4 more sources
Cardiac involvement in children with neuro-muscular disorders [PDF]
Нервно-мышечные болезни, 2015 Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies.
E. N. Arkhipova
doaj +3 more sources
A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies [PDF]
arXiv, 2019 The development of machine learning systems for the diagnosis of rare diseases is challenging mainly due the lack of data to study them. Despite this challenge, this paper proposes a system for the Computer Aided Diagnosis (CAD) of low-prevalence, congenital muscular dystrophies from confocal microscopy images.
Badosa, Carmen +4 more
arxiv +3 more sources
, 2021 Muscular Dystrophy - Research Update and Therapeutic Strategies is for students, researchers, and clinicians interested in muscular dystrophies who want to improve their knowledge of these complex genetic diseases. The book includes information about the
core +1 more source
Implications of notch signaling in duchenne muscular dystrophy
Frontiers in Physiology, 2022 This review focuses upon the implications of the Notch signaling pathway in muscular dystrophies, particularly Duchenne muscular dystrophy (DMD): a pervasive and catastrophic condition concerned with skeletal muscle degeneration.
Lily Den Hartog, Atsushi Asakura
doaj +1 more source
Extracellular Matrix Targeted MRI Probes
Analysis &Sensing, Volume 3, Issue 1, January 2023., 2023 Gadolinium based MRI probes targeted to ECM components, either proteins or enzymes, hold promise for accurate molecular characterization and staging of fibrotic diseases in vivo. Non‐covalent binding probes (1), reactive probes (2), and enzyme‐responsive probes (3) are discussed.
Giuseppe Digilio +3 more
wiley +1 more source
Role of Immunoglobulins in Muscular Dystrophies and Inflammatory Myopathies
Frontiers in Immunology, 2021 Muscular dystrophies and inflammatory myopathies are heterogeneous muscular disorders characterized by progressive muscle weakness and mass loss. Despite the high variability of etiology, inflammation and involvement of both innate and adaptive immune ...
Andrea Farini +4 more
doaj +1 more source
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 +4 more
openaire +3 more sources