Oxygen treatment of sleep hypoxaemia in Duchenne muscular dystrophy. [PDF]
, 1989 Phil E M Smith +2 more
openalex +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 2, April 2025.ABSTRACT Background Quantitative muscle MRI commonly evaluates disease activity and muscle wasting in Duchenne muscular dystrophy (DMD). Disturbances in ion homeostasis contribute to DMD pathophysiology, but their relationships with disease progression is unclear. 23Na MRI may provide insights into the disease course and treatment response.
Teresa Gerhalter +8 more
wiley +1 more source
Genetic counselors' awareness and attitudes regarding gene therapies
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers lack knowledge regarding GTs, this has not been explored within the genetic counseling profession.
Chelsey Walsh +4 more
wiley +1 more source
The Peptide PROTAC Modality: A New Strategy for Drug Discovery
MedComm, Volume 6, Issue 4, April 2025.Peptide PROTAC is a bifunctional molecule generally composed of a target protein binding peptide (TBP), a linker peptide (LP), an E3 ligase binding peptide (EBP), and a delivery‐enhancing peptide (DEP), which can bind to the target protein (P) and E3 ligase (E3), inducing P to be labeled with ubiquitin (Ub) and subsequently recognized and degraded by ...
Youmin Zhu, Yu Dai, Yuncai Tian
wiley +1 more source
Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution [PDF]
, 1987 Motoki Sano +4 more
openalex +1 more source
Membrane Fluidity of Nonmuscle Cells in Duchenne Muscular Dystrophy: Effect on Lymphocyte Membranes of Incubation in Patient and Control Sera [PDF]
, 1987 Christoph Hübner +2 more
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Incidence of Radiologically Confirmed Fractures in Adults With Duchenne Muscular Dystrophy
Muscle &Nerve, Volume 71, Issue 4, Page 558-563, April 2025.ABSTRACT Introduction/Aims An increased risk of low trauma fractures is well documented in children and adolescents with duchenne muscular dystrophy (DMD). There is limited evidence regarding the fracture incidence of adults with DMD. The aim of this study was to examine radiologically confirmed fractures in adults with DMD and review bone health ...
Gavin Langlands +3 more
wiley +1 more source
Malignant Hyperthermia in Duchenne Muscular Dystrophy [PDF]
, 1983 A. Keith W. Brownell +6 more
openalex +1 more source
NMR in Biomedicine, Volume 38, Issue 4, April 2025.The apparent tissue potassium concentration (aTPC) measured by 39K MRI in fat‐replaced muscles of patients with neuromuscular disorders is impacted by the low concentration of potassium in fat. To assess the aTPC in remaining muscle tissue, we correct this impact using the intramuscular fat fraction (FF) measured by 1H MRI.
Lena V. Gast +9 more
wiley +1 more source
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. [PDF]
, 1989 Edward R.B. McCabe +8 more
openalex +1 more source