Results 111 to 120 of about 106,524 (297)
Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]
, 2015 Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia +10 more
core +2 more sources
State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna +4 more
wiley +1 more source
BMC Surgery, 2004 Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan +4 more
doaj
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]
, 1990 A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
G. J. B. van Ommen +6 more
core +1 more source
CRISPR Correction of Duchenne Muscular Dystrophy.
Annual Review of Medicine, 2019 The ability to efficiently modify the genome using CRISPR technology has rapidly revolutionized biology and genetics and will soon transform medicine.
Yi-Li Min, R. Bassel-Duby, E. Olson
semanticscholar +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips +9 more
wiley +1 more source
International Journal of Neonatal Screening, 2018 Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear +9 more
doaj +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Therapeutic oligonucleotides (TOs) represent an emerging modality, which offers a promising alternative treatment option, particularly for intracellular targets. The two types of TOs, antisense oligonucleotides (ASO) and small interfering RNAs (siRNAs), distribute highly into tissues, especially into the liver and the kidneys.
Felix Stader +5 more
wiley +1 more source
Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy
Pediatric Neurology Briefs, 2007 The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and
J Gordon Millichap
doaj +1 more source
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]
, 2015 Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh +49 more
core +4 more sources