Results 101 to 110 of about 169,015 (342)
Pseudohypertrophic Muscular Dystrophy [PDF]
The Journal of Nervous and Mental Disease, 1915 n ...
Shaw, J., Brink,
openaire +3 more sources
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
Cytoskeleton, EarlyView.ABSTRACT Of the three types of cytoskeleton known in animals—actin, microtubules, and intermediate filaments—only actin and microtubules exist in plants. Both play important roles in cellular shaping, organelle movement, organization of the endomembrane system, and cell signaling.
Norman R. Groves +3 more
wiley +1 more source
Scientific ReportsBecker muscular dystrophy (BMD) is characterised by fiber loss and expansion of fibrotic and adipose tissue. Several cells interact locally in what is known as the degenerative niche.
Patricia Piñol-Jurado +23 more
doaj +1 more source
Pericytes in Muscular Dystrophies
, 2019 The muscular dystrophies are an heterogeneous group of inherited myopathies characterised by the progressive wasting of skeletal muscle tissue. Pericytes have been shown to make muscle in vitro and to contribute to skeletal muscle regeneration in several animal models, although recent data has shown this to be controversial.
Moyle, Louise Anne +2 more
openaire +5 more sources
Considerations in Transition of Pediatric Neurology Patients to Adult Care
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Transition refers to the planned, coordinated movement of adolescents from the child‐ and family‐centered environment of pediatric care to the adult healthcare system. A well‐structured transition process is essential for ensuring adolescents with chronic health conditions continue to thrive in young adulthood.
Asif Doja +5 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2018 Muscular dystrophy-dystroglycanopathies (MDDGs) resulting from fukutin-related protein (FKRP) gene mutations are rare disorders that result in a wide spectrum of clinical severity based on the age of onset, the degree of myogenic atrophy, and/or ...
Charles Harvey Vannoy +2 more
doaj
Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice
Scientific ReportsDystroglycanopathy is characterized by reduced or lack of matriglycan, a cellular receptor for laminin as well as other extracellular matrix proteins. Recent studies have delineated the glycan chain structure of the matriglycan and the pathway with key ...
Marcela P. Cataldi, Qi L. Lu
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
Gel Electrophoretic Detection of Black Market ACE‐031
Drug Testing and Analysis, EarlyView.This article presents a study on black market ACE‐031 products and their detection by gel‐electrophoresis and Western blotting. Of the 14 tested products, only 12 contained an ACVR2B‐immunoreactive protein. However, mass spectrometry revealed that the products did not contain the ACVR2B‐Fc fusion protein ACE‐031 but instead the full‐length human ...
Christian Reichel +3 more
wiley +1 more source