Results 91 to 100 of about 56,165 (274)
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy
Disease Models & Mechanisms, 2018 Dystroglycan is a cell membrane protein that binds to the extracellular matrix in a variety of mammalian tissues. The α-subunit of dystroglycan (αDG) is heavily glycosylated, including a special O-mannosyl glycoepitope, relying upon this unique ...
Alec R. Nickolls, Carsten G. Bönnemann
doaj +1 more source
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]
, 2016 Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]
, 2015 Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti +22 more
core +1 more source
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
Characterization of a novel microRNA, miR-188, elevated in serum of muscular dystrophy dog model.
PLoS ONE, 2019 MicroRNAs (miRNAs) are non-coding small RNAs that regulate gene expression at the post-transcriptional level. Several miRNAs are exclusively expressed in skeletal muscle and participate in the regulation of muscle differentiation by interacting with ...
Hiroyuki Shibasaki +8 more
doaj +1 more source
Abnormal carbohydrate metabolism in a canine model for muscular dystrophy
Journal of Nutritional Science, 2017 The canine golden retriever muscular dystrophy (GRMD) model is the best animal model for studying Duchenne muscular dystrophy in humans. Considering the importance of glucose metabolism in the muscles, the existence of metabolic and endocrine alterations
Andressa R. Amaral +6 more
doaj +1 more source
iMetaOmics, EarlyView.Chloroplast Genome Analysis Suite (CGAS) is a comprehensive bioinformatics pipeline that streamline chloroplast genome analysis from raw sequencing reads to publication‐ready outputs. The suite integrates 14 specialized modules organized across three sequential phases.
Abdullah, Rushan Yan, Xiaoxuan Tian
wiley +1 more source
Muscle carbonic anhydrase III levels in normal and muscular dystrophia afflicted chickens
Acta Veterinaria Scandinavica, 2012 Background The levels and immunohistochemical localization of muscle carbonic anhydrase III (CA-III) in healthy chickens and in muscular dystrophia affected (DA) chickens show that the muscles of diseased animal undergo a progressive increase of enzyme ...
Nishita Toshiho +4 more
doaj +1 more source
Flavonoids and Omega3 Prevent Muscle and Cardiac Damage in Duchenne Muscular Dystrophy Animal Model. [PDF]
Cells, 2021 Tripodi L +5 more
europepmc +1 more source