Results 121 to 130 of about 54,763 (333)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies
Skeletal Muscle, 2011 Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Because
Barresi Rita
doaj +1 more source
Exploring the Potential and Advancements of Circular RNA Therapeutics
Exploration, EarlyView.Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang +6 more
wiley +1 more source
Scientific ReportsMuscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
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Muscular dystrophies: key elements for everyday diagnosis and management
Cardiogenetics, 2013 Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino +2 more
doaj +1 more source
A CASE OF MUSCULAR DYSTROPHY [PDF]
The Journal of Nervous and Mental Disease, 1901 n ...
openaire +3 more sources
Mitochondrial dysfunction: Related diseases, influencing factors, and detection
Interdisciplinary Medicine, EarlyView.Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li +9 more
wiley +1 more source
The congenital muscular dystrophies
Annals of the Child Neurology SocietyBackground Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life.
Haluk Topaloğlu, Bita Poorshiri
doaj +1 more source