Results 31 to 40 of about 55,853 (286)
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]
, 2015 Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem +11 more
core +8 more sources
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]
, 2018 Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi +6 more
core +1 more source
Brain Function in Duchenne Muscular Dystrophy
Pediatric Neurology Briefs, 2002 The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD) and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.
J. Gordon Millichap
doaj +1 more source
Changes of the digestive tract of Golden Retriever dogs affected by muscular dystrophy [PDF]
, 2010 O modelo experimental canino Golden Retriever portador da Distrofia Muscular (GRMD) é o melhor substituto entre os modelos animais para estudar a Distrofia Muscular de Duchenne.
AMBRÓSIO, Carlos Eduardo +7 more
core +2 more sources
Gene Therapy in Large Animal Models of Muscular Dystrophy [PDF]
ILAR Journal, 2009 The muscular dystrophies are a group of genetically and phenotypically heterogeneously inherited diseases characterized by progressive muscle wasting, which can lead to premature death in severe forms such as Duchenne muscular dystrophy (DMD). In many cases they are caused by the absence of proteins that are critical components of the dystrophin ...
Zejing, Wang +3 more
openaire +2 more sources
Pesquisa Veterinária Brasileira, 2009 A distrofia muscular de Duchenne (DMD) é uma doença de origem genética, cuja principal manifestação clínica é enfraquecimento e atrofia progressiva dos músculos.
Flávio R. Alves +8 more
doaj +1 more source
Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]
, 2019 Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder +4 more
core +2 more sources
Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy [PDF]
BioMed Research International, 2015 In skeletal muscle, dystroglycan (DG) is the central component of the dystrophin-glycoprotein complex (DGC), a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC.
Sciandra Francesca +4 more
openaire +5 more sources
The use of genetically humanized animal models for personalized medicine approaches
Disease Models & Mechanisms, 2020 For many genetic diseases, researchers are developing personalized medicine approaches. These sometimes employ custom genetic interventions such as antisense-mediated exon skipping or genome editing, aiming to restore protein function in a mutation ...
Annemieke Aartsma-Rus +4 more
doaj +1 more source
Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy
Neurobiology of Disease, 2022 Dystrophinopaties, e.g., Duchenne muscular dystrophy (DMD), Becker muscular dystrophy and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized by progressive muscular degeneration, which however associate with a significant
Maria Egle De Stefano +2 more
doaj +1 more source