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Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
INCREASED EXPRESSION of ACETYLCHOLINE RECEPTORS in the DIAPHRAGM MUSCLE of MDX MICE
(Wiley-Blackwell, 2008-12-01)
The absence of dystrophin in Duchenne muscular dystrophy (DMD) and in the mutant mdx mouse causes muscle degeneration and disruption of the neuromuscular junction. Based on evidence from the denervation-like properties of ...
Interleukin-6 and neuregulin-1 as regulators of utrophin expression via the activation of NRG-1/ErbB signaling pathway in mdx cells
(Elsevier B.V., 2017)
© 2016 Elsevier B.V. Duchenne muscular dystrophy (DMD) is a neuromuscular disease originated by mutations in the dystrophin gene. A promising therapeutic approach deals with functional substitution of dystrophin by utrophin, ...
Fisioterapia respiratoria en pacientes con Distrofia Muscular de Duchenne
(Universidad Nacional de Chimborazo, 2021)
Animal models for genetic neuromuscular diseases
(HUMANA PRESS INC, 2008)
The neuromuscular disorders are a heterogeneous group of genetic diseases, caused by mutations in genes coding sarcolemmal, sarcomeric, and citosolic muscle proteins. Deficiencies or loss of function of these proteins leads ...
Burden of caregivers of patients with duchenne muscular dystrophy: relationship to functional capacity / Sobrecarga de cuidadores de pacientes com Distrofia Muscular de Duchenne: relação com a capacidade funcional
(Universidade Federal do Estado do Rio de Janeiro Escola de Enfermagem Alfredo Pinto Programa de Pós-Graduação em Enfermagem, 2021)