Results 81 to 90 of about 106,524 (297)
Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study
Annals of Clinical and Translational Neurology, 2020 The novel morpholino antisense oligonucleotide viltolarsen targets exon 53 of the dystrophin gene, and could be an effective treatment for patients with Duchenne muscular dystrophy (DMD).
H. Komaki +11 more
semanticscholar +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Einstein (São Paulo)Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco +3 more
doaj +1 more source
Performance of Upper Limb module for Duchenne muscular dystrophy
Developmental Medicine & Child Neurology, 2020 To report the differences between Performance of Upper Limb (PUL) versions 1.2 and 2.0, compare the measurement ability of the two versions, and compare their longitudinal performance in Duchenne muscular dystrophy.
A. Mayhew +8 more
semanticscholar +1 more source
Duchenne muscular dystrophy: current cell therapies
Therapeutic Advances in Neurological Disorders, 2015 Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy.
Dorota Sienkiewicz +4 more
doaj +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Optimization of CEST MRI Reporter Protein Design Using Cation‐Pi Networks
Chemistry – A European Journal, EarlyView.A novel engineering approach can produce reporter proteins for cell and viral therapy tracking with unique magnetic resonance imaging (MRI) signatures, detectable with chemical exchange saturation transfer (CEST). We discover how cation‐π interactions between amino acid groups can help us fine‐tune magnetic resonance properties for noninvasive ...
David E. Korenchan +8 more
wiley +1 more source
Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
core +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
Exosome-Mediated Benefits of Cell Therapy in Mouse and Human Models of Duchenne Muscular Dystrophy
Stem Cell Reports, 2018 Summary: Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle.
Mark A. Aminzadeh +15 more
doaj +1 more source