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Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scales.
J Rehabil Med
January 2025
WHOFIC Academic Collaborating Center- Univesitat de Barcelona, Barcelona, Spain; August Pi i Sunyer Biomedical Research Institute (IDIBAPS) University of Barcelona, Barcelona, Spain; Physical and Rehabilitation Department, Hospital Clinic, ICEMEQ, Barcelona, Spain; Clinical and Experimental Respiratory Immunoallergy (IRCE), Clinic Foundation for Biomedical Research, Barcelona, Spain.
Introduction: Functioning is the reason to be of rehabilitation as it is essential to the lives of people who suffer from a disease. The International Classification of Functioning, Disability and Health (ICF) can help in designing a functioning profile of a patient, identifying needs for rehabilitation plans and measuring the results of an intervention.
Objective: To identify the outcome measurement instruments reported in clinical studies in muscular dystrophies (MDs) and provide an ICF content analysis.
Scientific and Technological Prospecting on Polymeric Particles Containing Extracellular Matrix Peptides for the Treatment of Duchenne Muscular Dystrophy.
Recent Adv Drug Deliv Formul
January 2025
Laboratory of Innovation in Science and Technology - LACITEC, Department of Biophysics and Physiology, Federal University of Piauí, Teresina, Piauí, PI, Brazil.
Duchenne muscular dystrophy is a neuromuscular disease with an overall incidence of between 1 in 5,000 newborn males. Carriers may manifest progressive muscle weakness, resulting from the progressive degeneration of skeletal muscles, generating cardiac and respiratory disorders. Considering the lack of effective treatments, different therapeutic approaches have been developed, such as protein synthesis and extracellular matrix derivatives that can be used to improve muscle regeneration, maintenance, or repair.
View Article and Find Full Text PDFBehavioral characterization of the mdx5cv, mdx52 and DMD-null mouse models of Duchenne muscular dystrophy.
Dis Model Mech
January 2025
Department of Human genetics, Leiden University Medical Center, Leiden, the Netherlands.
Duchenne muscular dystrophy is a severe neuromuscular disorder, caused by mutations in the DMD gene. Normally, the DMD gene gives rise to multiple dystrophin isoforms, of which multiple are expressed in the brain. The location of the mutation determines the number of dystrophin isoforms affected, and the absence thereof leads to behavioral and cognitive impairments.
View Article and Find Full Text PDFMuscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations.
Neuromuscul Disord
January 2025
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinical outcome measures. Muscle magnetic resonance imaging (MRI), ultrasound and dual energy X-ray absorptiometry (DEXA) have been used to measure disease severity, activity and progression.
View Article and Find Full Text PDFProgress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.
J Muscle Res Cell Motil
January 2025
Institute of Developmental and Regenerative Medicine, University of Oxford, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Dr, Headington, Oxford, OX3 7TY, UK.
Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin.
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