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Develo** DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skip** therapies
Introduction Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused
by mutations in the dystrophin (DMD) gene. Most patients die from respiratory failure or …
by mutations in the dystrophin (DMD) gene. Most patients die from respiratory failure or …
Sleep disordered breathing in Duchenne muscular dystrophy
This review aims to explain the inevitable imbalance between respiratory load, drive, and
muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that …
muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that …
Objective and subjective measures of sleep in men with Muscular Dystrophy
Purpose Despite poor sleep quality being recognised in Duchenne Muscular Dystrophy,
reports from milder forms of Muscular Dystrophy (MD), and accompanied associations with …
reports from milder forms of Muscular Dystrophy (MD), and accompanied associations with …
Nutritional practices in pediatric patients with neuromuscular disorders
Children with neuromuscular disorders (NMDs) may experience a spectrum of nutritional
issues with adverse health consequences. This review summarizes the current …
issues with adverse health consequences. This review summarizes the current …
Obesity Management in Youth with Duchenne Muscular Dystrophy: A Review of Metformin and Alternative Pharmacotherapies
V Goldman, A Ryabets-Lienhard, L Howard… - Childhood …, 2024 - liebertpub.com
Background: Individuals with Duchenne muscular dystrophy (DMD) have increased risk of
obesity from prolonged glucocorticoid use and progressive muscle weakness. Over 50 …
obesity from prolonged glucocorticoid use and progressive muscle weakness. Over 50 …
Sleep disorders in childhood neurogenetic disorders
LBM Dosier, BV Vaughn, Z Fan - Children, 2017 - mdpi.com
Genetic advances in the past three decades have transformed our understanding and
treatment of many human diseases including neurogenetic disorders. Most neurogenetic …
treatment of many human diseases including neurogenetic disorders. Most neurogenetic …
Resting energy expenditure in adults with Becker's muscular dystrophy
Purpose The purpose of this study was: 1) To compare Resting energy expenditure (REE) in
adult males with Becker's Muscular Dystrophy (BeMD, n= 21, 39±12 years) and healthy …
adult males with Becker's Muscular Dystrophy (BeMD, n= 21, 39±12 years) and healthy …
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the …
Abstract The French Society of Pediatric Neurology and the FILNEMUS network created a
working group on corticosteroid therapy in children with Duchenne muscular dystrophy in …
working group on corticosteroid therapy in children with Duchenne muscular dystrophy in …
Uncovering sleep in young males with Duchenne muscular dystrophy
Objectives Sleep health in rare disease is often overlooked due to the complex nature of the
disease. For males with Duchenne muscular dystrophy, sleep assessment is typically …
disease. For males with Duchenne muscular dystrophy, sleep assessment is typically …
Bioelectrical impedance vector analysis and phase angle in boys with Duchenne muscular dystrophy
KM Vermeulen, MMGD Lopes, EC Grilo… - Food & Nutrition …, 2019 - pmc.ncbi.nlm.nih.gov
Background Duchenne muscular dystrophy (DMD) is a disease characterized by
progressive loss of functional muscle mass followed by changes in body composition …
progressive loss of functional muscle mass followed by changes in body composition …